Editing List of genetic disorders

{{Short description|None}}

The following is a '''list of [[genetic disorder]]s''' and if known, type of [[mutation]] and for the [[chromosome]] involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an [[mutation|abnormality]] in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in [[human]]s. 

==Most common==
[[File:Human karyotype with bands and sub-bands.png|thumb|300px|Human [[karyotype]] with annotated bands and sub-bands as used for the [[nomenclature of chromosome abnormalities]]. It shows dark and white regions as seen on [[G banding]]. Each row is vertically aligned at [[centromere]] level. It shows 22 [[Homologous chromosome|homologous]] [[autosomal]] chromosome pairs, both the female (XX) and male (XY) versions of the two [[sex chromosome]]s, as well as the [[human mitochondrial genetics|mitochondrial genome]] (at bottom left). {{further|Karyotype}}]]
[[File:Duchenne-muscular-dystrophy.jpg|thumb|Duchenne muscular dystrophy]]
* P – [[Point mutation]], or any insertion/deletion entirely inside one [[gene]]
* D – [[Deletion (genetics)|Deletion]] of a gene or genes
* Dup - [[Gene duplication|Duplication]] of a gene or genes
* C – Whole chromosome extra, missing, or both (see [[chromosome abnormality]])
* T – [[Trinucleotide repeat disorder]]s: gene is extended in length
[[File:Carpenter Syndrome 1.jpg|thumb|[[Craniosynostosis]] can be found in several disorders, like [[Carpenter Syndrome]]]]
{| class="wikitable"
! Disorder
! Chromosome
! Mutation
|-
| [[Angelman syndrome]]
| 15q
| DCP
|- 
| [[Canavan disease]]
| 17p
|
|-
| [[Charcot–Marie–Tooth disease]]
|17p12<ref>{{Cite web|url=https://www.omim.org/entry/118220?search=charcot-marie-tooth%20disease&highlight=%22charcot%20marie%20tooth%22%20charcotmarietooth%20disease|title = OMIM Entry - # 118220 - CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A}}</ref>
|Dup
|- 
| [[Color blindness]]
| X
| P
|- 
| [[Cri du chat syndrome]]
| 5
| D
|-
| [[Cystic fibrosis]]
| 7q
| P
|- 
| [[DiGeorge syndrome]]
| 22q
| D
|-
| [[Down syndrome]]
| 21
| C
|- 
| [[Duchenne muscular dystrophy]]
| Xp
| D
|-
|[[Familial hypercholesterolemia]]
|19
|P
|- 
| [[hereditary haemochromatosis|Haemochromatosis type 1]]
| 6
| P
|-
| [[Hemophilia]]
| X
| P
|- 
| [[Klinefelter syndrome]]
| X
| C
|- 
| [[Neurofibromatosis]]
| 17q/22q/?
|
|- 
| [[Phenylketonuria]]
| 12q
| P
|- 
| [[Polycystic kidney disease]]
| [[chromosome 16|16]] ([[PKD1]]) or [[chromosome 4|4]] ([[PKD2]])
| P
|- 
| [[Prader–Willi syndrome]]
| 15q
|DCP
|-
|[[Scheuermann's disease]]
|1q21-q22 or 7q22
|
|- 
| [[Sickle cell disease]]
| 11p
| P
|- 
| [[Spinal muscular atrophy]]
| 5q
| DP
|- 
| [[Tay–Sachs disease]]
| 15q
| P
|- 
| [[Turner syndrome]]
| X
| C
|}

==Full genetic disorders list==
{| class="wikitable sortable"
!Disorder
!Chromosome or gene
!Type
!Reference
!Prevalence
|-
| [[1p36 deletion syndrome]]
| 1
| D
|
| data-sort-value="7500" | 1:7,500
|-
|[[1q21.1 deletion syndrome]]
|1q21.1
|D
|
|
|-
|[[2q37 deletion syndrome]]
|2q37
|D
|
|
|-
|[[Chromosome 5q deletion syndrome|5q deletion syndrome]]
|5q
|D
|
|
|-
|[[5,10-methenyltetrahydrofolate synthetase deficiency]]
|[[5-formyltetrahydrofolate cyclo-ligase|MTHFS]]
|
|<ref>{{cite journal | vauthors = Rodan LH, Qi W, Ducker GS, Demirbas D, Laine R, Yang E, Walker MA, Eichler F, Rabinowitz JD, Anselm I, Berry GT | display-authors = 6 | title = 5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination | journal = Molecular Genetics and Metabolism | volume = 125 | issue = 1–2 | pages = 118–126 | date = September 2018 | pmid = 30031689 | pmc = 6557438 | doi = 10.1016/j.ymgme.2018.06.006 }}</ref>
|
|-
|[[7p22.1 microduplication syndrome]]
|7p22.1
|
|
|
|-
|[[17q12 microdeletion syndrome]]
|17q12
|
|<ref>{{cite book | vauthors = Mitchel MW, Moreno-De-Luca D, Myers SM, Levy RV, Turner S, Ledbetter DH, Martin CL | chapter =17q12 Recurrent Deletion Syndrome |date=1993|url=http://www.ncbi.nlm.nih.gov/books/NBK401562/| title =GeneReviews® |place=Seattle (WA)|publisher=University of Washington, Seattle|pmid=27929632|access-date=2021-02-16 | veditors = Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A }}</ref><ref>{{cite journal | vauthors = Roehlen N, Hilger H, Stock F, Gläser B, Guhl J, Schmitt-Graeff A, Seufert J, Laubner K | display-authors = 6 | title = 17q12 Deletion Syndrome as a Rare Cause for Diabetes Mellitus Type MODY5 | journal = The Journal of Clinical Endocrinology and Metabolism | volume = 103 | issue = 10 | pages = 3601–3610 | date = October 2018 | pmid = 30032214 | doi = 10.1210/jc.2018-00955 | doi-access = free }}</ref>
| data-sort-value="14000" | 1:14,000-62,500

|-
|[[17q12 microduplication syndrome]]
|17q12
|
|<ref>{{cite journal | vauthors = Wan S, Zheng Y, Dang Y, Song T, Chen B, Zhang J | title = Prenatal diagnosis of 17q12 microdeletion and microduplication syndrome in fetuses with congenital renal abnormalities | journal = Molecular Cytogenetics | volume = 12 | issue = 1 | pages = 19 | date = 2019-05-17 | pmid = 31131025 | pmc = 6525371 | doi = 10.1186/s13039-019-0431-7 | doi-access = free }}</ref>
|
|-
| [[18p-|18p deletion syndrome]]
| 18p
| D
|
| data-sort-value="50000" | 1:50,000
|-
| [[21-hydroxylase deficiency]]
| 6p21.3
| recessive
|
| data-sort-value="15000" | 1:15,000
|-
| [[Alpha 1-antitrypsin deficiency]]
|14q32
|[[Autosomal co-dominant|co-dominant]],
|
| data-sort-value="2500" | 1:2,500-5,000
|-
|[[Triple-A syndrome|AAA syndrome]] (achalasia–addisonianism–alacrima syndrome)
|[[AAAS (gene)|AAAS]]
|recessive
|<ref>{{cite web | vauthors = Ferry Jr RJ | url=https://emedicine.medscape.com/article/919360-overview#:~:text=Allgrove%20syndrome%2C%20or%20AAA%20syndrome,of%201%20per%201%2C000%2C000%20individuals. | title=Allgrove (AAA) Syndrome | website=Medscape | access-date=15 June 2020 }}</ref>
| data-sort-value="100000" | 1:1,000,000
|-
|[[Aarskog–Scott syndrome]]
|[[FGD1]]
|X-linked recessive
|
| data-sort-value="25000" | 1:25,000
|-
|[[ABCD syndrome]]
|[[Endothelin B receptor|EDNRB]]
| recessive
|
| data-sort-value="18000" | 1:18,000-20,000
|-
|[[Absence deformity of leg-cataract syndrome]]
|
|
|
|
|-
| [[Aceruloplasminemia]]
|[[CP (gene)|CP]] (3p26.3)
| recessive
|
| data-sort-value="2000000" | 1:2,000,000
|-
|[[Acheiropodia]]
|[[LMBR1]]
|recessive
|
|
|-
| [[Achondrogenesis type II]]
|[[COL2A1]] (12q13.11)
|dominant
|
| data-sort-value="40000" | 1:40,000-60,000
|-
| [[Achondroplasia]] ||[[FGFR3]] (4p16.3)|| dominant
|
| data-sort-value="27,500" | 1:27,500
|-
| [[Acute intermittent porphyria]] ||[[HMBS (gene)|HMBS]]|| dominant and recessive forms
|
| data-sort-value="500" | 1:500-50,000
|-
| [[Adenylosuccinate lyase deficiency]] || [[ADSL (gene)|ADSL]]
| recessive
|
|
|-
| [[Adrenoleukodystrophy]] ||[[ABCD1]] (X)|| recessive
|
| data-sort-value="17000" | 1:17,000
|-
| [[Alagille syndrome]] ||[[JAG1]], [[Notch 2|NOTCH2]]
| dominant
|<ref>{{Cite web|url=https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=253&Disease_Disease_Search_diseaseGroup=alagille-syndrome&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Alagille-syndrome&title=Alagille%20syndrome&search=Disease_Search_Simple|title=Orphanet: Alagille syndrome |website=www.orpha.net|language=en|access-date=2019-04-16}}</ref>
| data-sort-value="30000" | 1:30,000-50,000
|-
|[[ADULT syndrome]]
|[[TP63]]
|dominant
|
|
|-
|[[Aicardi–Goutières syndrome]]|| [[TREX1]], [[RNASEH2A]], [[RNASEH2B]], [[RNASEH2C]], [[SAMHD1]], [[ADAR]], [[IFIH1]]
| recessive |
|
| data-sort-value="19500000" | 1:19,500,000
|-
| [[Albinism in humans|Albinism]] || ||
|
| data-sort-value="18000" | 1:18,000-20,000
|-
| [[Alexander disease]] ||[[GFAP (gene)|GFAP]]|| dominant |
|
| data-sort-value="15600000" | 1:15,600,000
|-
|[[Monosomy 9p|Alfi's syndrome]]
|9p
|monosomy
|
|1:50,000
|-
| [[Alkaptonuria]] ||[[HGD (gene)|HGD]]|| recessive |
|
| data-sort-value="250000" | 1:250,000-1,000,000
|-
| [[Alport syndrome]] ||10q26.13 [[COL4A3|''COL''4A3]], ''[[COL4A4]]'', and ''[[COL4A5]]''||
|
| data-sort-value="5000" | 1:5,000-10,000
|-
|[[Alternating hemiplegia of childhood]]
|[[ATP1A3]]
|
|
| data-sort-value="1000000" | 1:1,000,000
|-
|[[Aortic arch anomaly - peculiar facies - intellectual disability]]
|
|dominant
|
|
|-
|[[Amish lethal microcephaly]]
|[[SLC25A19]]
|recessive
|
|
|-
| [[Amyotrophic lateral sclerosis]] – [[Frontotemporal dementia]]||[[C9orf72]], [[SOD1]], [[FUS (gene)|FUS]], [[TARDBP]], [[CHCHD10]], [[Tau protein|MAPT]]
|
|
| data-sort-value="100000" | 1:100,000
|-
|[[Angel-shaped phalango-epiphyseal dysplasia]]
|[[GDF5]]
|dominant
|
|
|-
| [[Alström syndrome]] ||[[ALMS1]]||
|
| data-sort-value="8600000" | 1:8,600,000
|-
| [[Alzheimer's disease]] ||[[PSEN1]], [[PSEN2]], [[Amyloid precursor protein|APP]], [[Apolipoprotein E|APOEε4]]
|
|
| data-sort-value="177" | 1:177
|-
| [[Amelogenesis imperfecta]] || ||
|
| data-sort-value="14000" | 1:14,000
|-
|[[Aminolevulinic acid dehydratase deficiency porphyria]]
|[[ALAD]]
|
|
| data-sort-value="780000000" | 1:780,000,000
|-
| [[Androgen insensitivity syndrome]] || ||
|
| data-sort-value="20000" | 1:20,000-50,000
|-
| [[Angelman syndrome]] ||[[UBE3A]]||
|
| data-sort-value="12000" | 1:12,000-20,000
|-
|[[Aphalangy-syndactyly-microcephaly syndrome]]
|
|dominant
|
|
|-
|[[Apert syndrome]]
|[[FGFR2]]
|
|
| data-sort-value="65000" | 1:65,000-80,000
|-
| [[Arthrogryposis–renal dysfunction–cholestasis syndrome]] ||[[VPS33B]]
|
|
| data-sort-value="78000000" | 1:78,000,000
|-
| [[Ataxia telangiectasia]] ||[[ATM (gene)|ATM]]||
|
| data-sort-value="40000" | 1:40,000-1,000,000
|-
|[[Axenfeld syndrome]]
|[[PITX2]], [[FOXO1]]A, [[FOXC1]], [[PAX6]]
|
|
| data-sort-value="200000" | 1:200,000
|-
|[[Bainbridge–Ropers syndrome]]
|[[ASXL3]] 
|de novo
|
|
|-
| [[Beare–Stevenson cutis gyrata syndrome]] || 10q26, [[FGFR2]]||
|
| data-sort-value="390000000" | 1:390,000,000
|-
|[[Beckwith–Wiedemann syndrome]]
| [[IGF-2]], [[CDKN1C]], [[H19 (gene)|H19]], [[KCNQ1OT1]]
|
|
| data-sort-value="15000" | 1:15,000
|-
| [[Benjamin syndrome]] || ||
|
| data-sort-value="20000000" | 1:20,000,000
|-
| [[biotinidase deficiency]] ||[[BTD]]||
|
| data-sort-value="110000000" | 1:110,000,000
|-
|[[Björnstad syndrome]]
|[[BCS1L]]
|
|
| data-sort-value="260000000" | 1:260,000,000
|-
|[[Blepharophimosis intellectual disability syndromes]]
|
|
|
|
|-
| [[Bloom syndrome]] || 15q26.1||
|
| data-sort-value="480000" | 1:480,000
|-
| [[Birt–Hogg–Dubé syndrome]] || 17 [[FLCN]]||
|
| data-sort-value="19500000" | 1:19,500,000
|-
|[[Brody myopathy]]
|[[ATP2A1]]
|
|
| data-sort-value="10000000" | 1:10,000,000
|-
|[[Brunner syndrome]]
|[[MAOA]]
|
|
| data-sort-value="500000000" | 1:500,000,000
|-
| [[CADASIL syndrome]] || [[Notch 3|NOTCH3]]|| P
|
| data-sort-value="156000000" | 1:156,000,000
|-
|[[Cat eye syndrome]]
|22
|
|
|1:74,000
|
|-
|[[Camptodactyly, tall stature, and hearing loss syndrome|CATSHL syndrome]]
|[[FGFR3]]
|dominant/recessive
|<ref name="k060">{{cite web |date=2024-08-11 |title=Online Mendelian Inheritance in Man (OMIM) |url=https://omim.org/entry/610474 |access-date=2024-08-11 |website=OMIM}}</ref>
|
|
|-
|[[Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy|CRASIL syndrome]]
|[[HTRA1]]
|
|
| data-sort-value="156000000" | 1:156,000,000
|-
| [[Chronic granulomatous disorder]] || ||
|
| data-sort-value="200000" | 1:200,000
|-
| [[Campomelic dysplasia]] || X 17q24.3–q25.1|| C
|
| data-sort-value="40000" | 1:40,000-200,000
|-
|[[Camptodactyly-taurinuria syndrome]]
|
|dominant
|
|
|-
| [[Canavan disease]] ||[[ASPA (gene)|ASPA]]||
|
| data-sort-value="6400" | 1:6,400-13,500
|-
|[[Carpenter syndrome]]
|[[RAB23]]
|
|
| data-sort-value="1000000" | 1:1,000,000
|-
| [[CDKL5 deficiency disorder]]
| [[CDKL5]]
|
|<ref name="deficiency">{{cite web | url=https://ghr.nlm.nih.gov/condition/cdkl5-deficiency-disorder | title=CDKL5 deficiency disorder | website=MedlinePlus | access-date=7 June 2021 }}</ref> 
| data-sort-value="40000" | 1:40,000-60,000<ref name="deficiency" />
|-
| [[Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome]] (CEDNIK) ||[[SNAP29]]||
|
| data-sort-value="1000000" | <1:1,000,000<ref>{{cite web|url=https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66631|title=Orphanet: CEDNIK syndrome|access-date=8 May 2021}}</ref>
|-
|[[Cleft palate short stature vertebral anomalies syndrome]]
|
|
|
|
|-
|[[Combined malonic and methylmalonic aciduria]] (CMAMMA)
|[[ACSF3]]
|recessive
|<ref name=":0">{{Cite journal |last1=NIH Intramural Sequencing Center Group |last2=Sloan |first2=Jennifer L |last3=Johnston |first3=Jennifer J |last4=Manoli |first4=Irini |last5=Chandler |first5=Randy J |last6=Krause |first6=Caitlin |last7=Carrillo-Carrasco |first7=Nuria |last8=Chandrasekaran |first8=Suma D |last9=Sysol |first9=Justin R |last10=O'Brien |first10=Kevin |last11=Hauser |first11=Natalie S |last12=Sapp |first12=Julie C |last13=Dorward |first13=Heidi M |last14=Huizing |first14=Marjan |last15=Barshop |first15=Bruce A |date=2011 |title=Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria |journal=Nature Genetics |language=en |volume=43 |issue=9 |pages=883–886 |doi=10.1038/ng.908 |issn=1061-4036 |pmc=3163731 |pmid=21841779}}</ref><ref>{{Cite journal |last1=Alfares |first1=A. |last2=Nunez |first2=L. D. |last3=Al-Thihli |first3=K. |last4=Mitchell |first4=J. |last5=Melancon |first5=S. |last6=Anastasio |first6=N. |last7=Ha |first7=K. C. H. |last8=Majewski |first8=J. |last9=Rosenblatt |first9=D. S. |last10=Braverman |first10=N. |date=2011 |title=Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype |journal=Journal of Medical Genetics |language=en |volume=48 |issue=9 |pages=602–605 |doi=10.1136/jmedgenet-2011-100230 |pmid=21785126 |s2cid=19352176 |issn=0022-2593|doi-access=free }}</ref>
|1:30,000<ref name=":0" />
|-
|[[Combined malonic and methylmalonic aciduria]] (CMAMMA)
|[[MLYCD]]
|recessive
|
|
|-
|[[Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome]]
|
|recessive
|
|
|-
| [[Cystic fibrosis]] || [[Cystic fibrosis transmembrane conductance regulator|CFTR]] (7q31.2)|| D or S
|<ref name="FBR">{{cite web|url=https://www.cdc.gov/genomics/gtesting/ACCE/FBR/|title=FBR Model for Genetic Tests{{!}}ACCE{{!}}Genetic Testing{{!}}Genomics{{!}}CDC|website=www.cdc.gov|access-date=2017-10-24}}</ref>

| data-sort-value="100000" | 1:100,000
|-
| [[Charcot–Marie–Tooth disease]] || [[Peripheral myelin protein 22|PMP22]], [[MFN2]]
|
|
| data-sort-value="2500" | 1:2,500
|-
|[[CHARGE syndrome]] ||[[CHD7]]||
|
| data-sort-value="8500" | 1:8,500-10,000
|-
| [[Chédiak–Higashi syndrome]] ||[[LYST]]||recessive
|
| data-sort-value="39000000" | 1:39,000,000
|-
|[[Chondrodysplasia, Grebe type]]
|[[GDF5]]
|autosomal recessive
|<ref>{{cite journal | vauthors = Langer LO, Cervenka J, Camargo M | title = A severe autosomal recessive acromesomelic dysplasia, the Hunter-Thompson type, and comparison with the Grebe type | journal = Human Genetics | volume = 81 | issue = 4 | pages = 323–8 | date = March 1989 | pmid = 2703235 | doi = 10.1007/BF00283684 | s2cid = 27942659 }}</ref>
|
|-
|[[Cleidocranial dysostosis]]
|[[RUNX2]]
|
|
| data-sort-value="7800" | 1:7,800
|-
| [[Cockayne syndrome]] || [[ERCC6]], [[ERCC8 (gene)|ERCC8]]
|
|
| data-sort-value="2600" | 1:2,600-3,900
|-
| [[Coffin–Lowry syndrome]] || X [[RPS6KA3]]
|
|
| data-sort-value="40000" | 1:40,000-50,000
|-
| [[Cohen syndrome]] ||[[COH1]]
|
|
| data-sort-value="7800000" | 1:7,800,000
|-
| [[Collagenopathy, types II and XI]] || [[COL11A1]], [[COL11A2]], [[Col2A1|COL2A1]]
|
|
|
|-
|[[Congenital insensitivity to pain with anhidrosis]] (CIPA)
|[[NTRK1]]
|
|
|
|-
|[[Congenital muscular dystrophy]]
|multiple
|dominant or recessive
|<ref>{{Cite web|url=https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=12865&Disease_Disease_Search_diseaseGroup=congenital-muscular-dystrophy&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Congenital-muscular-dystrophy&title=Congenital%20muscular%20dystrophy&search=Disease_Search_Simple|title=Orphanet: Congenital muscular dystrophy |website=www.orpha.net|language=en|access-date=2019-04-16}}</ref>
|
|-
|[[Corneal dystrophy-perceptive deafness syndrome]]
|[[SLC4A11]]
|autosomal recessive
|<ref>{{Cite web |title=Corneal dystrophy and perceptive deafness - About the Disease - Genetic and Rare Diseases Information Center |url=https://rarediseases.info.nih.gov/diseases/1529/corneal-dystrophy-and-perceptive-deafness |access-date=2022-08-03 |website=rarediseases.info.nih.gov |language=en |archive-date=2022-08-03 |archive-url=https://web.archive.org/web/20220803120917/https://rarediseases.info.nih.gov/diseases/1529/corneal-dystrophy-and-perceptive-deafness/ |url-status=dead }}</ref>
|
|-
|[[Cornelia de Lange syndrome]] (CDLS)
|[[HDAC8]], [[SMC1A]], [[NIPBL]], [[SMA3]], [[RAD21]]
|
|
|1:10,000-30,000
|-
|[[Cowden syndrome]]||[[PTEN (gene)|PTEN]]
|
|
|1:200,000
|-
| CPO deficiency ([[hereditary coproporphyria|coproporphyria]]) ||[[CPOX (gene)|CPOX]]
|
|
|
|-
| [[Cranio-lenticulo-sutural dysplasia]]||14q13–q21
|
|
|
|-
| [[Cri du chat]]|| 5p15.2 || D
|<ref>{{cite web | url=https://www.findresources.co.uk/the-syndromes/cri-du-chat/history | title=History and Prevalence of Cri du Chat Syndrome | website=findresources | access-date=15 June 2020 }}</ref><ref>{{Cite web|url=https://www.omim.org/entry/123450?search=Cri%20du%20chat%20syndrome&highlight=%28syndrome%7Csyndromic%29%20chat%20cri%20du|title = OMIM Entry - # 123450 - Cri-Du-Chat Syndrome}}</ref>
| data-sort-value="50000" | 1:37,000-50,000
|-
| [[Crohn's disease]]|| 16q12|| P
|
|
|-
| [[Crouzon syndrome]]||[[FGFR2]], [[FGFR3]]||
|
|1.6:100,000
|-
| [[Crouzonodermoskeletal syndrome]] (Crouzon syndrome with acanthosis nigricans) ||[[FGFR3]]
|
|
|1:1,000,000
|-
|[[Currarino syndrome]]
|[[HLXB9]]
|dominant
|
|1:100,000
|-
|[[Darier's disease]]
|[[ATP2A2]]
|
|
|1:30,000-100,000
|-
| [[Dent's disease]] (Genetic hypercalciuria) || Xp11.22 [[CLCN5]], [[OCRL]]||
|
|
|-
|[[Denys–Drash syndrome]]
|[[WT1]]
|
|
|
|-
| De Grouchy syndrome |[[De Grouchy syndrome]]|| 18q|| D
|
|
|-
|[[Dolichonychia]]
|
|
|
|
|-
|[[Down syndrome]]
|21
|C
|
|1:1,000-1,100<br />1:1,200 ([[U.S.]])
|-
|[[DiGeorge syndrome]]|| 22q11.2|| D
|
|1:4,000
|-
|[[Distal hereditary motor neuropathy|Distal hereditary motor neuropathies]], multiple types ||[[HSPB8]], [[HSPB1 (gene)|HSPB1]], [[HSPB3]], [[GARS (gene)|GARS]], [[REEP1]], [[IGHMBP2]], [[SLC5A7]], [[DCTN1]], [[TRPV4]], [[SIGMAR1]]||
|
|
|-
|[[Distal muscular dystrophy]]
|[[Dysferlin]], [[TIA1]], [[GNE (gene)]], [[MYH7]], [[Titin]], [[MYOT]], [[MATR3]], unknown
|Dominant or recessive
|<ref>{{Cite news|url=https://www.mda.org/disease/distal-myopathies/types|title=Distal Myopathies - Types of Distal MD|date=2015-12-18|website=Muscular Dystrophy Association|language=en|access-date=2019-04-16}}</ref>
|
|-
|[[Duchenne muscular dystrophy]]
|[[Dystrophin]]
|X-linked recessive
|<ref>{{Cite web|url=https://omim.org/entry/310200?search=duchenne%20muscular%20dystrophy&highlight=duchenne%20%22duchenne%20muscular%20dystrophy%22%20muscular%20dystrophy|title=OMIM Entry - # 310200 - MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD|website=omim.org|language=en-us|access-date=2019-04-16}}</ref>
|
|-
|[[Dravet syndrome]]||[[SCN1A]], [[SCN2A]]||
|
|1:20,000-40,000
|-
|[[Ectrodactyly-polydactyly syndrome]]
|
|
|
|
|-
|[[Edwards syndrome]]
|18
|trisomy
|
|1:5,000
|-
| [[Ehlers–Danlos syndrome]]||[[COL1A1]], [[COL1A2]], [[COL3A1]], [[COL5A1]], [[COL5A2]], [[TNXB]], [[ADAMTS2]], [[PLOD1]], [[B4GALT7]], [[DSE (gene)|DSE]]
|dominant
|
|1:5,000
|-
|[[Emanuel syndrome]]
|11, 22
|partial trisomy
|
|
|-
|[[Emery–Dreifuss syndrome]]
|[[EMD (gene)|EMD]], [[LMNA]], [[SYNE1]], [[SYNE2]], [[FHL1]], [[TMEM43]]
|
|
|
|-
|[[Epidermolysis bullosa]]
|[[KRT5]], [[KRT14]], [[DSP (gene)|DSP]], [[PKP1]], [[JUP (gene)|JUP]], [[PLEC1]], [[DST (gene)|DST]], [[EXPH5]], [[TGM5]], [[LAMA3]], [[LAMB3]], [[LAMC2]], [[COL17A1]], [[ITGA6]], [[ITGA4]], [[ITGA3]], [[COL7A1]], [[FERMT1]]
|dominant or recessive
|<ref>{{cite journal | vauthors = Uitto J, Has C, Vahidnezhad H, Youssefian L, Bruckner-Tuderman L | title = Molecular pathology of the basement membrane zone in heritable blistering diseases:: The paradigm of epidermolysis bullosa | journal = Matrix Biology | volume = 57-58 | pages = 76–85 | date = January 2017 | pmid = 27496350 | doi = 10.1016/j.matbio.2016.07.009 }}</ref><ref>{{cite journal | vauthors = Fine JD | title = Epidemiology of Inherited Epidermolysis Bullosa Based on Incidence and Prevalence Estimates From the National Epidermolysis Bullosa Registry | journal = JAMA Dermatology | volume = 152 | issue = 11 | pages = 1231–1238 | date = November 2016 | pmid = 27463098 | doi = 10.1001/jamadermatol.2016.2473 | doi-access = free }}</ref>
| data-sort-value="90000" | 11.08:1,000,000
|-
|[[Erythropoietic protoporphyria]]
|[[FECH (gene)|FECH]]
|
|
|1:75,000-200,000
|-
|[[Fanconi anemia]] (FA)
|[[FANCA]], [[FANCB]], [[FANCC]], [[FANCD1]], [[FANCD2]], [[FANCE]], [[FANCF]], [[FANCG]], [[FANCI]], [[FANCJ]], [[FANCL]], [[FANCM]], [[FANCN]], [[FANCP]], [[BRCA1|FANCS]], [[RAD51C]], [[ERCC4|XPF]]
|
|
|1:130,000
|-
| [[Fabry disease]]||[[GLA (gene)|GLA]] (Xq22.1)|| P
|
|1:117,000-476,000
|-
| [[Factor V Leiden thrombophilia]]|| ||
|
|
|-
|[[Fatal insomnia|Fatal familial insomnia]]
|[[PRNP]]
|dominant
|
|
|-
| [[Familial adenomatous polyposis]]||[[APC gene|APC]]||
|
|1:10,000-15,000
|-
| [[Familial dysautonomia]]||[[IKBKAP]]
|
|
|
|-
|[[Creutzfeldt–Jakob disease|Familial Creutzfeld–Jakob disease]]
|[[PRNP]]
|dominant
|
|
|-
|[[Familial episodic pain syndrome]]
|[[TRPA1]], [[SCN10A]], [[SCN11A]]
|dominant
|
|
|-
|[[Familial thoracic aortic aneurysm and aortic dissection]]
|[[FOXE3]], [[SMAD2]], [[LOX]], [[MAT2A]], [[National Liberation Army (Colombia)|ELN]], [[HEY2]], [[TGFB3]], [[TGFBR1]], [[TGFBR2]], [[FBN1]], [[ACTA2]], [[MYLK]], [[SMAD3]], [[PRKG1]], [[MFAP5]], [[TGFB2]], [[SMAD4]], [[MYH11]]
|dominant
|
|
|-
|[[Feingold syndrome]]
|[[MYCN]]
|
|
|
|-
| [[FG syndrome]]||[[MED12]]
|
|
|
|-
|[[FBXW7 neurodevelopmental syndrome]] 
|[[FBXW7]] 
|
|
|
|-
|[[Fibular aplasia-ectrodactyly syndrome]]
|
|dominant
|
|
|-
|[[Fine-Lubinsky syndrome]]
|[[MAF (gene)|MAF]]
|recessive
|
|
|-
|[[Fragile X syndrome]]
|[[FMR1]]
|T
|
|1:4,000 males
1:8,000 females
|-
|[[Friedreich's ataxia]]||[[FXN]]||T
|
|1:50,000 (U.S.)
|-
| [[G6PD deficiency]]|| ||X-linked recessive
|<ref>{{Cite web|url=https://www.msdmanuals.com/professional/hematology-and-oncology/anemias-caused-by-hemolysis/glucose-6-phosphate-dehydrogenase-g6pd-deficiency|title=Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency|website=msdmanuals.com|language=en-us|access-date=2024-11-11}}</ref>
|
|-
| [[Galactosemia]]||[[GALT (gene)|GALT]], [[GALK1]], [[GALE]]||
|
|
|-
|[[Gaucher disease]]||[[GBA (gene)|GBA]] (1)||
|
|1:20,000
|-
|[[Gerstmann–Sträussler–Scheinker syndrome]]
|[[PRNP]]
|dominant
|
|
|-
|[[Gillespie syndrome]]
|[[PAX6]]
|
|
|
|-
|Glutaric aciduria, [[Glutaric aciduria type 1|type I]] and [[Glutaric acidemia type 2|type 2]]
|[[GCDH]], [[ETFA]], [[ETFB]], [[ETFDH]]
|recessive
|
|
|-
|[[GRACILE syndrome]]
|[[BCS1L]]
|
|
|
|-
|[[GRIN2B-related neurodevelopmental disorder]]
|[[GRIN2B]] 
|
|
|
|-
|[[Griscelli syndrome]]||[[MYO5A]], [[RAB27A]], [[MLPH]]
|
|
|
|-
|[[Gustavson syndrome]]
|
|
|
|
|-
|[[Hailey–Hailey disease]]
|[[ATP2C1]] (3)
|
|
|
|-
| [[Harlequin type ichthyosis]]||[[ABCA12]]||
|
|
|-
|[[Hereditary haemochromatosis|Hemochromatosis type 1]]||[[HFE (gene)|HFE]] (chromosome 6)|| recessive||.||1:200 ([[Northern Europe]]), 1:300 ([[Northern America]])
|- 
|[[Juvenile hemochromatosis|Hemochromatosis type 2A]]||[[Hemojuvelin|HJV]] (or HFE2A) (chromosome 1)|| recessive 
|
|
|- 
|[[Juvenile hemochromatosis|Hemochromatosis type 2B]]||[[Hepcidin|HAMP]] (or HFE2B) (chromosome 19)|| recessive
|
|
|-
|[[Haemochromatosis type 3]]||[[Transferrin receptor 2|TFR2]] (or HFE3) (chromosome 7)|| recessive
|
|
|-
|[[Hemochromatosis type 4]]||[[Ferroportin|SLC40A1]] (or HFE4) (chromosome 2)|| dominant
|
|
|-
|[[Iron overload|Hemochromatosis]] type 5||[[FTH1]] (chromosome 11)|| dominant
|
|
|-
| [[Hemophilia]]||[[Factor VIII|FVIII]]
|
|
|1:7,500 males (hemophilia A)
1:40,000 males (hemophilia B)
|-
| [[Hepatoerythropoietic porphyria]]||[[UROD]]
|
|
|
|-
| [[Hereditary coproporphyria]]|| 3q12|| P
|
|
|-
| [[Hereditary hemorrhagic telangiectasia]] (Osler–Weber–Rendu syndrome) ||[[ENG (gene)|ENG]], [[ACVRL1]], [[MADH4 gene|MADH4]]||
|
| data-sort-value="5000" | 1:5,000 <ref>{{cite journal | vauthors = Faughnan ME, Mager JJ, Hetts SW, Palda VA, Lang-Robertson K, Buscarini E, Deslandres E, Kasthuri RS, Lausman A, Poetker D, Ratjen F, Chesnutt MS, Clancy M, Whitehead KJ, Al-Samkari H, Chakinala M, Conrad M, Cortes D, Crocione C, Darling J, de Gussem E, Derksen C, Dupuis-Girod S, Foy P, Geisthoff U, Gossage JR, Hammill A, Heimdal K, Henderson K, Iyer VN, Kjeldsen AD, Komiyama M, Korenblatt K, McDonald J, McMahon J, McWilliams J, Meek ME, Mei-Zahav M, Olitsky S, Palmer S, Pantalone R, Piccirillo JF, Plahn B, Porteous ME, Post MC, Radovanovic I, Rochon PJ, Rodriguez-Lopez J, Sabba C, Serra M, Shovlin C, Sprecher D, White AJ, Winship I, Zarrabeitia R | display-authors = 6 | title = Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia | journal = Annals of Internal Medicine | volume = 173 | issue = 12 | pages = 989–1001 | date = December 2020 | pmid = 32894695 | doi = 10.7326/M20-1443 | s2cid = 221542952 }}</ref>
|-
| [[Hereditary inclusion body myopathy]]||[[GNE (gene)|GNE]], [[MYH2|MYHC2A]], [[VCP (gene)|VCP]], [[HNRPA2B1]], [[HNRNPA1]]
|
|
|
|-
| [[Hereditary multiple exostoses]]||[[EXT1]], [[EXT2 (gene)|EXT2]], [[EXT3 (gene)|EXT3]]||
|
|1:50,000
|-
| [[Hereditary spastic paraplegia]] (infantile-onset ascending hereditary spastic paralysis) ||[[AP4M1]], [[AP4S1]], [[AP4B1]], [[AP4E1]]
|
autosomal dominant, autosomal recessive or X-linked recessive
|
|2-6:100,000
|-
| [[Hermansky–Pudlak syndrome]]||[[HPS1]], [[HPS3]], [[HPS4]], [[HPS5]], [[HPS6]], [[HPS7]], [[AP3B1]]
|
|
|1:500,000
|-
| [[Hereditary neuropathy with liability to pressure palsies]] (HNPP) ||[[PMP22]]||
|
|
|-
|[[Heterotaxy]]
|[[NODAL]], [[NKX2-5 (gene)|NKX2-5]], [[ZIC3]], [[CCDC11]], [[CFC1]], [[SESN1]]
|
|
|
|-
| [[Homocystinuria]]||[[CBS (gene)]]
|recessive
|<ref>{{cite web|url=https://omim.org/entry/236200|title=OMIM Entry – # 236200 – Homocystinuria Due to Cystathionine Beta-Synthase Deficiency|website=omim.org|access-date=2018-03-01}}</ref>
|
|-
|[[Huntington's disease]]
|[[Huntingtin|chromosome 4 HTT gene]]
|[[autosomal dominant]] 
|
| data-sort-value="10000" | 1:10,000 in US 
|-
|[[Hunter syndrome]]
|[[IDS (gene)|IDS]]
|
|
|1:100,000-150,000 males
|-
|[[Hurler syndrome]]
|IDUA
|
|
|1:100,000
|-
|[[Progeria|Hutchinson–Gilford progeria syndrome]]||[[LMNA]]
|
|
|1:18,000,000
|-
|[[Hyperlysinemia]]
|[[AASS (gene)|AASS]]
|recessive
|
|
|-
| [[Hyperoxaluria, primary]]||[[AGXT]], [[GRHPR]], [[DHDPSL]]
|
|
|
|-
| [[Hyperphenylalaninemia]]||12q
|
|
|
|-
|[[Hypoalphalipoproteinemia]] (Tangier disease)
|[[ABCA1]]
|
|
|
|-
| [[Hypochondrogenesis]]||[[COL2A1]]
|
|
|
|-
| [[Hypochondroplasia]]
|[[FGFR3]] (4p16.3)
|
|
|
|-
| [[Immunodeficiency–centromeric instability–facial anomalies syndrome]] (ICF syndrome) || 20q11.2||
|
|
|-
| [[Incontinentia pigmenti]]||[[IKBKG]] (Xq28)|| P
|
|
|-
|[[Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly]]
|[[MED17]]
|recessive
|
|
|-
| [[Ischiopatellar dysplasia]]||[[TBX4]]|| dominant
|
|
|-
| [[Isodicentric 15]]|| 15q11–14|| Inv dup
|
| data-sort-value="30000" | 1:30,000 <ref>{{Cite journal|url=https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.1576|doi = 10.1002/ajmg.1576|title = Chromosome imbalances associated with epilepsy|year = 2001|last1 = Schinzel|first1 = Albert|last2 = Niedrist|first2 = Dunja|journal = American Journal of Medical Genetics|volume = 106|issue = 2|pages = 119–124|pmid = 11579431}}</ref>
|-
|[[PRICKLE1-related progressive myoclonus epilepsy with ataxia]]
|[[PRICKLE1]]
|dominant or recessive
|
|
|-
| [[Jackson–Weiss syndrome]]||[[FGFR2]]||
|
|
|-
|[[Jacobsen syndrome]]
|11
|
|
|1:100,000
|-
| [[Joubert syndrome]]||[[INPP5E]], [[TMEM216]], [[AHI1]], [[NPHP1]], [[CEP290]], [[TMEM67]], [[RPGRIP1L]], [[ARL13B]], [[CC2D2A]], [[OFD1]], [[TMEM138]], [[TCTN3]], [[ZNF423]], [[ARMC9|AMRC9]]
|
|
|
|-
|[[Juvenile-onset dystonia]]
|[[ACTB]], [[IMPDH2]]
|dominant
|
|
|-
| [[Juvenile primary lateral sclerosis]] (JPLS) ||[[ALS2]]||
|
|
|-
| [[Keloid disorder]]|| ||
|
|
|-
|[https://www.kif1a.org KIF1A-Associated neurological disorder]
|KIF1A (2q37.3)
|Dominant negative
|
|
|-
|[[Kleefstra syndrome]]
|9q34
|D
|
|
|-
| [[Kniest dysplasia]]||[[COL2A1]]||
|
|1:1,000,000
|-
| [[Kosaki overgrowth syndrome]]||[[PDGFRB]]||
|
|
|-
| [[Krabbe disease]]||[[GALC]]||
|
|1:100,000
|-
|[[Kufor–Rakeb syndrome]]
|[[ATP13A2]]
|
|
|
|-
|[[LCAT deficiency]]
|[[LCAT (gene)|LCAT]]
|
|
|
|-
|[[Lesch–Nyhan syndrome]]||[[Hprt|HPRT]] (X) ||
|
|1:380,000
|-
|[[Li–Fraumeni syndrome]]||[[TP53]]
|
|
|
|-
|[[Limb-girdle muscular dystrophy|Limb-Girdle Muscular Dystrophy]]
|Multiple
|dominant or recessive
|<ref>{{Cite web|url=https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=14951&Disease_Disease_Search_diseaseGroup=limb-girdle-muscular-dystrophy&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Autosomal-recessive-limb-girdle-muscular-dystrophy&title=Autosomal%20recessive%20limb-girdle%20muscular%20dystrophy&search=Disease_Search_Simple|title=Orphanet: Autosomal recessive limb girdle muscular dystrophy |website=www.orpha.net|language=en|access-date=2019-04-16}}</ref><ref>{{Cite web|url=https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=14950&Disease_Disease_Search_diseaseGroup=limb-girdle-muscular-dystrophy&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Autosomal-dominant-limb-girdle-muscular-dystrophy&title=Autosomal%20dominant%20limb-girdle%20muscular%20dystrophy&search=Disease_Search_Simple|title=Orphanet: Autosomal dominant limb girdle muscular dystrophy |website=www.orpha.net|language=en|access-date=2019-04-16}}</ref>
|1:14,500-123,000
|-
|[[Lynch syndrome]]||[[MSH2]], [[MLH1]], [[MSH6]], [[PMS2]], [[PMS1]], [[TGFBR2]], [[MLH3]]
|
|
|1:279
|-
|[[Lipoprotein lipase deficiency, familial|lipoprotein lipase deficiency]]|| ||recessive
|
|1:1,000,000
|-
| [[Malignant hyperthermia]]
|[[RYR1]] (19q13.2)
| dominant
|
|1:5,000-100,000
|-
|[[Maple syrup urine disease]]
|[[BCKDHA]], [[BCKDHB]], [[DBT (gene)|DBT]], [[Dihydrolipoamide dehydrogenase|DLD]]
|recessive
|
|
|-
| [[Marfan syndrome]]|| 15q ||dominant
|
|1:5,000-10,000
|-
|[[Maroteaux–Lamy syndrome]]
|[[ARSB]]
|recessive
|
|1:43,261-1,505,160
|-
| [[McCune–Albright syndrome]]|| 20 q13.2–13.3||
|
|1:100,000-1,000,000
|-
|[[McLeod syndrome]]||[[XK (protein)|XK]] (X)||
|
|0.5-1:100,000
|-
| [[MEDNIK syndrome]]||[[AP1S1]]|| D
|<ref>{{cite web|url=http://www.eurekalert.org/pub_releases/2008-12/plos-an120308.php|title='MEDNIK': A novel genetic syndrome|website=EurekAlert!|language=en|access-date=2017-10-24}}</ref><ref>{{cite web | title = Hereditary disorder found in Que. families | date = 4 December 2008 | work = CTV News | url = https://www.ctvnews.ca/hereditary-disorder-found-in-que-families-1.348608 | archive-url = https://web.archive.org/web/20081207001939/http://www.ctv.ca/servlet/ArticleNews/story/CTVNews/20081204/Mutated_Gene_081204/20081204?hub=Health | archive-date=2008-12-07 }}</ref>
|
|-
| [[Mediterranean fever, familial]]||[[MEFV]]||
|
|
|-
| [[Menkes disease]]||[[ATP7A]] (Xq21.1) ||
|
|1:100,000-250,000
|-
|[[Methemoglobinemia#beta-globin type|Methemoglobinemia]]|| ||
|
|
|-
| [[Methylmalonic acidemia]]||[[MMAA]], [[MMAB]], [[MMACHC]], [[MMADHC]], [[LMBRD1]], [[MUT (gene)|MUT]]
|recessive
|
|1:48,000
|-
| [[Micro syndrome]]||[[RAB3GAP]] (2q21.3) ||
|
|
|-
| [[Microcephaly]]||[[ASPM (Gene)|ASPM]] (1q31) || P
|
|
|-
|[[Miller-Dieker syndrome]]
|17p13.3 
|D
|
|1:100,000
|-
|[[Morquio syndrome]]||[[GALNS]], [[GLB1]]||
|
|1:200,000-300,000
|-
| [[Mowat–Wilson syndrome]]||[[ZEB2]] (2) ||
|
|
|-
| [[Muenke syndrome]]||[[FGFR3]]||
|
|1:30,000
|-
| [[Multiple endocrine neoplasia type 1]] (Wermer's syndrome) ||[[MEN1]]||dominant
|
|
|-
|[[Multiple endocrine neoplasia type 2]]
|[[RET (gene)|RET]]
|dominant
|
|
|-
|[[Muscular dystrophy]]||multiple
|AR, AD, X-linked
|
|
|-
| [[Muscular dystrophy, Duchenne and Becker type]]|| ||
|
|
|-
| [[Myostatin-related muscle hypertrophy]]||[[MSTN]]
|
|
|
|-
| [[Myotonic dystrophy]]||[[DMPK (gene)|DMPK]], [[CNBP]]||dominant or T
|
|1:8,000
|-
|[[Hyaluronidase deficiency|Natowicz syndrome]]
|[[HYAL1]]||
|
|<1:1,000,000
|
|-
| [[Neurofibromatosis type I]]|| 17q11.2 ||
|
|
|-
| [[Neurofibromatosis type II]]|| [[Merlin (protein)|NF2]] (22q12.2) ||
|
|
|-
| [[Niemann–Pick disease]]||[[SMPD1]], [[Niemann–Pick disease#Classification|NPA]], [[Niemann–Pick disease#Classification|NPB]], [[NPC1]], [[NPC2]]||
|
|1:250,000 (types A and B)
1:150,000 (type C)
|-
|[[Nonketotic hyperglycinemia]]||[[GLDC]], [[Aminomethyltransferase|AMT]], [[GCSH]]
| recessive
|
|1:60,000
|-
| [[Nonsyndromic deafness]]|| ||
|
|
|-
| [[Noonan syndrome]]||[[PTPN11]], [[KRAS]], [[SOS1]], [[RAF1]], [[NRAS (gene)|NRAS]], [[HRAS]], [[BRAF (gene)|BRAF]], [[SHOC2]], [[MAP2K1]], [[MAP2K2]], [[CBL (gene)|CBL]]||dominant
|
|1:1,000
|-
|[[Norman–Roberts syndrome]]
|[[RELN]]
|recessive
|
|
|-
|[[Ogden syndrome]]
| X
| P
|
|
|-
|[[Omenn syndrome]]
|[[RAG1]], [[RAG2]]
|recessive
|
|
|-
| [[Osteogenesis imperfecta]]||[[COL1A1]], [[COL1A2]], [[IFITM5]]
|dominant
|
|1:15,000-20,000
|-
|[[Ostravik-Lindemann-Solberg syndrome]]
|2p15
|autosomal recessive
|<ref>{{Cite web |title=OMIM Entry - # 217085 - CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY; CHDTHP |url=https://omim.org/entry/217085 |access-date=2022-05-11 |website=omim.org |language=en-us}}</ref>
|
|-
| [[Pantothenate kinase-associated neurodegeneration]]||[[PANK2 (gene)|PANK2]] (20p13–p12.3) ||recessive
|
|1-3:1,000,000
|-
| [[Patau syndrome]] (Trisomy 13) || 13 ||trisomy
|
|
|-
|[[Pyruvate carboxylase deficiency|PCC deficiency]] (propionic acidemia) ||[[PC (gene)|PC]]|| recessive
|
|1:250,000
|-
| [[Porphyria cutanea tarda]] (PCT) ||[[UROD]]||dominant
|
|1:10,000
|-
| [[Pendred syndrome]]||PDS (7) ||recessive
|
|
|-
| [[Peutz–Jeghers syndrome]]||[[STK11]]
|dominant
|
|1:25,000-300,000
|-
| [[Pfeiffer syndrome]]||[[FGFR1]], [[FGFR2]]||dominant
|
|1:100,000
|-
|[[Phelan-McDermid syndrome]]
|22q13 
|D
|
|
|-
| [[Phenylketonuria]]||[[PAH (gene)|PAH]]|| recessive
|
|1:12,000
|-
|[[Pipecolic acidemia]]
|[[AASDHPPT]]
|recessive
|
|
|-
|[[Pitt–Hopkins syndrome]]
|[[TCF4]] (18)
|dominant, de novo
|
|1:11,000-41,000
|-
| [[Polycystic kidney disease]]
|[[PKD1]] (16) or [[PKD2]] (4)
| P
|
|
|-
| [[Polycystic ovary syndrome]] (PCOS) || ||
|
|
|-
| [[Porphyria]]|| ||
|
|1-100:50,000
|-
| [[Prader–Willi syndrome]]||15||paternal imprinting
|
|1:10,000-30,000
|-
| [[Primary ciliary dyskinesia]] (PCD) ||[[DNAI1]], [[DNAH5]], [[TXNDC3]], [[DNAH11]], [[DNAI2]], [[C14orf104|KTU]], [[RSPH4A]], [[RSPH9]], [[LRRC50]]
| recessive
|
|1:32,000
|-
| [[Primary pulmonary hypertension]]|| ||
|
|
|-
| [[Protein C deficiency]]||[[Protein C|PROC]]
| dominant
|<ref>{{cite web|url=https://omim.org/entry/176860|title=OMIM Entry – # 176860 – Thrombophilia Due to Protein C Deficiency, Autosomal Dominant; THPH3|website=omim.org|access-date=2018-03-01}}</ref>
|1:20,000
|-
| [[Protein S deficiency]]||[[PROS1]]
|dominant
|
|
|-
|[[Proximal 18q-|Proximal 18q deletion syndrome]]
|18q
|D
|
|
|-
| [[Pseudo-Gaucher disease]]|| ||
|
|
|-
| [[Pseudoxanthoma elasticum]]||[[ABCC6]]
|recessive
|
|1:25,000
|-
|[[Retinitis pigmentosa]]
|RP1, RP2, RPGR, PRPH2, IMPDH1, PRPF31, CRB1, PRPF8, TULP1, CA4, HPRPF3, ABCA4, EYS, CERKL, FSCN2, TOPORS, SNRNP200, PRCD, NR2E3, MERTK, USH2A, PROM1, KLHL7, CNGB1, TTC8, ARL6, DHDDS, BEST1, LRAT, SPARA7, CRX
|dominant or recessive
|
|1:4,000
|-
| [[Rett syndrome]]||[[MECP2]]
|dominant, often de novo
|
|1:8,500 females
|-
|[[Roberts syndrome]]
|[[ESCO2]]
|recessive
|
|
|-
| [[Rubinstein–Taybi syndrome]] (RSTS) ||[[CREB-binding protein|CREBBP]]
|dominant
|
|1:125,000-300,000
|-
| [[Sandhoff disease]]||[[HEXB]]|| recessive
|
|
|-
|[[Sanfilippo syndrome]]
|[[SGSH]], [[NAGLU]], [[HGSNAT]], [[GNS gene|GNS]]
|
|
|1:70,000
|-
|[[Scheuermann's disease]]
|1q21-q22 or 7q22
|autosomal dominant
|
|1:45
|-
| [[Schwartz–Jampel syndrome]]||[[HSPG2]]
|recessive
|
|
|-
|[[Sjogren-Larsson syndrome]]
|[[ALDH3A2]]
|[[Autosomal-recessive disease|Autosomal-recessive]]
|[https://ghr.nlm.nih.gov/condition/sjogren-larsson-syndrome], [https://onlinelibrary.wiley.com/doi/abs/10.1002/%28SICI%291098-1004%281998%2912%3A6%3C377%3A%3AAID-HUMU3%3E3.0.CO%3B2-I],[https://www.socialstyrelsen.se/ovanligadiagnoser/sjogren-larssonssyndrom] {{Webarchive|url=https://web.archive.org/web/20180123214402/http://www.socialstyrelsen.se/ovanligadiagnoser/sjogren-larssonssyndrom |date=2018-01-23 }}
|
|-
|[[Skin fragility-woolly hair-palmoplantar keratoderma syndrome]]
|[[DSP (gene)|DSP]]
|
|
|
|-
| [[Spondyloepiphyseal dysplasia congenita]] (SED) ||[[COL2A1]]
|dominant
|
|
|-
| [[Shprintzen–Goldberg syndrome]]||[[FBN1]]|| dominant
|
|
|-
| [[Sickle cell anemia]]|| 11p15|| P
|
|
|-
| [[Siderius X-linked mental retardation syndrome|Siderius X-linked intellectual disability syndrome]]||[[PHF8]]|| X-Linked Recessive
|
<ref>{{Cite web|url=https://omim.org/entry/300263|title=OMIM Entry - # 300263 - SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME; MRXSSD|website=omim.org|access-date=2019-04-16}}</ref>
|
|-
|[[Sideroblastic anemia]]
|[[ABCB7]], [[SLC25A38]], [[GLRX5]]
|recessive
|
|
|-
|[[Sly syndrome]]
|[[GUSB]]
|recessive
|
|1:250,000
|-
|[[Smith–Lemli–Opitz syndrome]]||[[DHCR7]]
|recessive
|
|1:20,000-60,000
|-
| [[Smith–Magenis syndrome]]||17p11.2
| dominant
|
|1:15,000-25,000
|-
| [[Snyder–Robinson syndrome]]||Xp21.3-p22.12
| recessive
|
|<1:1,000,000
|-
| [[Spinal muscular atrophy]]||5q
|
|
|1:10,000
|-
|[[Spinocerebellar ataxia]] (types 1–29) ||[[Ataxin 1|ATXN1]], [[ATXN2]], [[ATXN3]], [[PLEKHG4]], [[SPTBN2]], [[CACNA1A]], [[ATXN7]], [[ATXN8OS]], [[ATXN10]], [[TTBK2]], [[PPP2R2B]], [[KCNC3]], [[PRKCG]], [[ITPR1]], [[TATA binding protein|TBP]], [[KCND3]], [[FGF14]]
| dominant, recessive or T
|
|
|-
|[[Split hand split foot-nystagmus syndrome]]
|
|dominant
|
|
|-
| SSB syndrome ([[SADDAN]]) ||[[Fibroblast growth factor receptor 3|FGFR3]]
| dominant
|
|
|-
|[[Stargardt disease]] (macular degeneration)
|[[ABCA4]], [[CNGB3]], [[ELOVL4]], [[PROM1]]
|dominant or recessive
|
|1-1.28:10,000
|-
| [[Stickler syndrome]] (multiple forms) ||[[COL11A1]], [[COL11A2]], [[COL2A1]], [[COL9A1]]||dominant or recessive
|
|1:7,500-9,000 (U.S.)
|-
| Strudwick syndrome ([[spondyloepimetaphyseal dysplasia, Strudwick type]]) ||[[Col2A1|COL2A1]]||dominant
|
|
|-
|[[Tay–Sachs disease]]||[[HEXA]] (15) || recessive
|
|
|-
| [[Tetrahydrobiopterin deficiency]]||[[GTP cyclohydrolase I|GCH1]], [[PCBD1]], [[PTS (gene)|PTS]], [[QDPR]], [[MTHFR]], [[DHFR]]
|recessive
|
|
|-
| [[Thanatophoric dysplasia]]||[[FGFR3]]||dominant
|
|1:60,000
|-
|[[Thickened earlobes-conductive deafness syndrome]]
|
|
|
|
|-
| [[Treacher Collins syndrome]]|| 5q32–q33.1 ([[TCOF1]], [[POLR1C]], or [[POLR1D]])|| dominant
|
|1:50,000
|-
|[[Tuberous sclerosis|Tuberous sclerosis complex]] (TSC)
|[[TSC1]], [[TSC2]]
|dominant
|
|7-12:100,000
|-
| [[Turner syndrome]]|| X|| monosomy
|
| data-sort-value="2000" | 1:2,000-2,500 live female births
|-
| [[Usher syndrome]]||MYO7A, USH1C, CDH23, PCDH15, USH1G, USH2A, GPR98, DFNB31, CLRN1 ||recessive
|
|3-6:100,000 (type I)
|-
| [[Variegate porphyria]]||[[PPOX]]||dominant
|
|
|-
|[[Viljoen-Kallis-Voges syndrome]]
|
|recessive
|
|
|-
| [[von Hippel–Lindau disease]]||[[von Hippel–Lindau tumor suppressor|VHL]]
|dominant
|
|1:36,000
|-
| [[von Willebrand disease]]||[[Von Willebrand factor|VWF]]||dominant
|
|1:10,000
|-
| [[Waardenburg syndrome]]||[[PAX3]], [[Mitf|MITF]], [[WS2B]], [[WS2C]], [[SNAI2]], [[EDNRB]], [[EDN3]], [[SOX10]]
| dominant
|
|1:42,000
|-
|[[Trisomy 8|Warkany syndrome 2]]
|8
|trisomy
|
|
|-
| [[Weissenbacher–Zweymüller syndrome]]||[[COL11A2]]||recessive
|
|
|-
|[[Weyer's ulnar ray/oligodactyly syndrome]]
|
|recessive
|
|
|-
| [[Williams syndrome]]||7q11.23|| dominant
|
| data-sort-value="10000" | 1:10,000
|-
|[[Wilson disease]]||[[ATP7B]]||recessive
|
|1:30,000
|-
|[[Woodhouse–Sakati syndrome]]
|[[C2ORF37]] (2q22.3–q35) ||recessive
|
|
|-
| [[Wolf–Hirschhorn syndrome]]|| 4p16.3|| dominant, often de novo
|
|1:50,000
|-
| [[Xeroderma pigmentosum]]|| 15 [[ERCC4]]||recessive
|
|
|-
| X-linked intellectual disability and macroorchidism (fragile X syndrome) || X||
|
|
|-
| X-linked spinal-bulbar muscle atrophy ([[spinal and bulbar muscular atrophy]]) || X||
|
|
|-
|[[Xp11.2 duplication]] syndrome<!-- this unnamed syndrome is different than the Xp11.22-related disease above
Edit: Updated to duplication syndrome, will attach OMIM source-->
| Xp11.2|| D
|
<ref>{{Cite web|url=https://omim.org/entry/300705?search=xp11.22&highlight=xp1122%20xp11|title=OMIM Entry - # 300705 - CHROMOSOME Xp11.22 DUPLICATION SYNDROME|website=omim.org|access-date=2019-04-16}}</ref>
| data-sort-value="1000000" | 1:1,000,000
|-
|[[X-linked severe combined immunodeficiency]] (X-SCID) || X||
|
|
|-
|[[X-linked sideroblastic anemia]] (XLSA) ||[[ALAS2]] (X)||
|
|
|-
|47,XXX (<small>[[triple X syndrome]])</small>
|X
|C
|
|1:1,000 females
|-
|XXXX syndrome (<small>[[48, XXXX]])</small>|| X||
|
|1:50,000 females
|-
|XXXXX syndrome (<small>[[49,XXXXX]])</small> 
|X
|
|
|1:85,000-250,000 females
|-
|XXXXY syndrome (<small>[[49,XXXXY]])</small>
|X
|
|
|1:85,000-100,000 males
|-
|XYY syndrome (<small>[[47,XYY syndrome|47,XYY]])</small>
|Y
|
|
|1:1,000 male births
|-
|XXYY syndrome (<small>[[48,XXYY]])</small>
|X, Y
|
|
|1:18,000-40,000 males
|-
|XYYY syndrome (<small>[[48,XYYY]])</small>
|Y
|
|
|
|-
|XXXY syndrome (<small>[[XXXY syndrome|48,XXXY]])</small>
|X
|
|
|1:50,000 males
|-
|XYYYY syndrome (<small>[[49,XYYYY]])</small>
|Y
|
|
|1:1,000,000 males
|-
|[[Zellweger syndrome]]
|[[PEX1]], [[PEX2]], [[PEX3]], [[PEX5]], [[PEX6]], [[PEX10]], [[PEX12]], [[PEX13]], [[PEX14]], [[PEX16]], [[PEX19]], [[PEX26]]
|recessive
|
|
|}

== References ==
{{reflist}}

== Further reading ==
* {{cite web|title=Specific Genetic Disorders|url=https://www.genome.gov/10001204/specific-genetic-disorders/|website=National Human Genome Research Institute (NHGRI)|publisher=genome.gov|access-date=15 November 2017}}
* {{cite web|title=Congenital and Genetic Diseases {{!}} Genetic and Rare Diseases Information Center (GARD) – an NCATS Program|url=https://rarediseases.info.nih.gov/diseases/diseases-by-category/5/congenital-and-genetic-diseases|website=rarediseases.info.nih.gov|publisher=NIH.gov|access-date=15 November 2017|language=en}}
* {{cite web|title=Color Vision deficiency {{!}} Genetics Home Reference|url=https://ghr.nlm.nih.gov/condition/color-vision-deficiency|website=ghr.nlm.nih.gov}}

{{Medicine|state=collapsed}}

[[Category:Genetic diseases and disorders|*]]
[[Category:Genetics-related lists|Disorder]]
[[Category:Lists of diseases|Genetic disorders]]
[[Category:Disability-related lists|Genetic disorders]]
[[Category:Medical lists|Genetic disorders]]