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list of genetic disorders

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The following is a list of genetic disorders 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 abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.

Most common

File:Human karyotype with bands and sub-bands.png 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 autosomal chromosome pairs, both the female (XX) and male (XY) versions of the two sex chromosomes, as well as the mitochondrial genome (at bottom left). {{further|Karyotype}}]]

File:Duchenne-muscular-dystrophy.jpg

File:Carpenter Syndrome 1.jpg 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{{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}}

|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

Haemochromatosis type 1

| 6

| P

Hemophilia

| X

| P

Klinefelter syndrome

| X

| C

Neurofibromatosis

| 17q/22q/?

|

Phenylketonuria

| 12q

| P

Polycystic kidney disease

| 16 (PKD1) or 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

|

|

5q deletion syndrome

|5q

|D

|

|

5,10-methenyltetrahydrofolate synthetase deficiency

|MTHFS

|

|{{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 }}

|

7p22.1 microduplication syndrome

|7p22.1

|

|

|

17q12 microdeletion syndrome

|17q12

|

|{{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 }}{{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 }}

| data-sort-value="14000" | 1:14,000-62,500

17q12 microduplication syndrome

|17q12

|

|{{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 }}

|

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

|co-dominant,

|

| data-sort-value="2500" | 1:2,500-5,000

AAA syndrome (achalasia–addisonianism–alacrima syndrome)

|AAAS

|recessive

|{{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 }}

| data-sort-value="100000" | 1:1,000,000

Aarskog–Scott syndrome

|FGD1

|X-linked recessive

|

| data-sort-value="25000" | 1:25,000

ABCD syndrome

|EDNRB

| recessive

|

| data-sort-value="18000" | 1:18,000-20,000

Absence deformity of leg-cataract syndrome

|

|

|

|

Aceruloplasminemia

|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

AchondroplasiaFGFR3 (4p16.3)dominant

|

| data-sort-value="27,500" | 1:27,500

Acute intermittent porphyriaHMBSdominant and recessive forms

|

| data-sort-value="500" | 1:500-50,000

Adenylosuccinate lyase deficiencyADSL

| recessive

|

|

AdrenoleukodystrophyABCD1 (X)recessive

|

| data-sort-value="17000" | 1:17,000

Alagille syndromeJAG1, NOTCH2

| dominant

|{{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}}

| data-sort-value="30000" | 1:30,000-50,000

ADULT syndrome

|TP63

|dominant

|

|

Aicardi–Goutières syndromeTREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, IFIH1

| recessive |

|

| data-sort-value="19500000" | 1:19,500,000

Albinism|

| data-sort-value="18000" | 1:18,000-20,000

Alexander diseaseGFAPdominant |

|

| data-sort-value="15600000" | 1:15,600,000

Alfi's syndrome

|9p

|monosomy

|

|1:50,000

AlkaptonuriaHGDrecessive |

|

| data-sort-value="250000" | 1:250,000-1,000,000

Alport syndrome10q26.13 COL4A3, 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 dementiaC9orf72, SOD1, FUS, TARDBP, CHCHD10, MAPT

|

|

| data-sort-value="100000" | 1:100,000

Angel-shaped phalango-epiphyseal dysplasia

|GDF5

|dominant

|

|

Alström syndromeALMS1|

| data-sort-value="8600000" | 1:8,600,000

Alzheimer's diseasePSEN1, PSEN2, APP, 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 syndromeUBE3A|

| 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 syndromeVPS33B

|

|

| data-sort-value="78000000" | 1:78,000,000

Ataxia telangiectasiaATM|

| data-sort-value="40000" | 1:40,000-1,000,000

Axenfeld syndrome

|PITX2, FOXO1A, FOXC1, PAX6

|

|

| data-sort-value="200000" | 1:200,000

Bainbridge–Ropers syndrome

|ASXL3

|de novo

|

|

Beare–Stevenson cutis gyrata syndrome10q26, FGFR2|

| data-sort-value="390000000" | 1:390,000,000

Beckwith–Wiedemann syndrome

| IGF-2, CDKN1C, H19, KCNQ1OT1

|

|

| data-sort-value="15000" | 1:15,000

Benjamin syndrome|

| data-sort-value="20000000" | 1:20,000,000

biotinidase deficiencyBTD|

| data-sort-value="110000000" | 1:110,000,000

Björnstad syndrome

|BCS1L

|

|

| data-sort-value="260000000" | 1:260,000,000

Blepharophimosis intellectual disability syndromes

|

|

|

|

Bloom syndrome15q26.1|

| data-sort-value="480000" | 1:480,000

Birt–Hogg–Dubé syndrome17 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 syndromeNOTCH3P

|

| data-sort-value="156000000" | 1:156,000,000

Cat eye syndrome

|22

|

|

|1:74,000

|

CATSHL syndrome

|FGFR3

|dominant/recessive

|{{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}}

|

|

CRASIL syndrome

|HTRA1

|

|

| data-sort-value="156000000" | 1:156,000,000

Chronic granulomatous disorder|

| data-sort-value="200000" | 1:200,000

Campomelic dysplasiaX 17q24.3–q25.1C

|

| data-sort-value="40000" | 1:40,000-200,000

Camptodactyly-taurinuria syndrome

|

|dominant

|

|

Canavan diseaseASPA|

| data-sort-value="6400" | 1:6,400-13,500

Carpenter syndrome

|RAB23

|

|

| data-sort-value="1000000" | 1:1,000,000

CDKL5 deficiency disorder

| CDKL5

|

|{{cite web | url=https://ghr.nlm.nih.gov/condition/cdkl5-deficiency-disorder | title=CDKL5 deficiency disorder | website=MedlinePlus | access-date=7 June 2021 }}

| data-sort-value="40000" | 1:40,000-60,000

Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome (CEDNIK)SNAP29|

| data-sort-value="1000000" | <1:1,000,000{{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}}

Cleft palate short stature vertebral anomalies syndrome

|

|

|

|

Combined malonic and methylmalonic aciduria (CMAMMA)

|ACSF3

|recessive

|{{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}}{{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 }}

|1:30,000

Combined malonic and methylmalonic aciduria (CMAMMA)

|MLYCD

|recessive

|

|

Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome

|

|recessive

|

|

Cystic fibrosisCFTR (7q31.2)D or S

|{{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}}

| data-sort-value="100000" | 1:100,000

Charcot–Marie–Tooth diseasePMP22, MFN2

|

|

| data-sort-value="2500" | 1:2,500

CHARGE syndromeCHD7|

| data-sort-value="8500" | 1:8,500-10,000

Chédiak–Higashi syndromeLYSTrecessive

|

| data-sort-value="39000000" | 1:39,000,000

Chondrodysplasia, Grebe type

|GDF5

|autosomal recessive

|{{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 }}

|

Cleidocranial dysostosis

|RUNX2

|

|

| data-sort-value="7800" | 1:7,800

Cockayne syndromeERCC6, ERCC8

|

|

| data-sort-value="2600" | 1:2,600-3,900

Coffin–Lowry syndromeX RPS6KA3

|

|

| data-sort-value="40000" | 1:40,000-50,000

Cohen syndromeCOH1

|

|

| data-sort-value="7800000" | 1:7,800,000

Collagenopathy, types II and XICOL11A1, COL11A2, COL2A1

|

|

|

Congenital insensitivity to pain with anhidrosis (CIPA)

|NTRK1

|

|

|

Congenital muscular dystrophy

|multiple

|dominant or recessive

|{{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}}

|

Corneal dystrophy-perceptive deafness syndrome

|SLC4A11

|autosomal recessive

|{{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 }}

|

Cornelia de Lange syndrome (CDLS)

|HDAC8, SMC1A, NIPBL, SMA3, RAD21

|

|

|1:10,000-30,000

Cowden syndromePTEN

|

|

|1:200,000

CPO deficiency (coproporphyria)CPOX

|

|

|

Cranio-lenticulo-sutural dysplasia14q13–q21

|

|

|

Cri du chat5p15.2D

|{{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 }}{{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}}

| data-sort-value="50000" | 1:37,000-50,000

Crohn's disease16q12P

|

|

Crouzon syndromeFGFR2, 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 syndrome18qD

|

|

Dolichonychia

|

|

|

|

Down syndrome

|21

|C

|

|1:1,000-1,100
1:1,200 (U.S.)

DiGeorge syndrome22q11.2D

|

|1:4,000

Distal hereditary motor neuropathies, multiple typesHSPB8, HSPB1, HSPB3, GARS, REEP1, IGHMBP2, SLC5A7, DCTN1, TRPV4, SIGMAR1|

|

Distal muscular dystrophy

|Dysferlin, TIA1, GNE (gene), MYH7, Titin, MYOT, MATR3, unknown

|Dominant or recessive

|{{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}}

|

Duchenne muscular dystrophy

|Dystrophin

|X-linked recessive

|{{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}}

|

Dravet syndromeSCN1A, SCN2A|

|1:20,000-40,000

Ectrodactyly-polydactyly syndrome

|

|

|

|

Edwards syndrome

|18

|trisomy

|

|1:5,000

Ehlers–Danlos syndromeCOL1A1, COL1A2, COL3A1, COL5A1, COL5A2, TNXB, ADAMTS2, PLOD1, B4GALT7, DSE

|dominant

|

|1:5,000

Emanuel syndrome

|11, 22

|partial trisomy

|

|

Emery–Dreifuss syndrome

|EMD, LMNA, SYNE1, SYNE2, FHL1, TMEM43

|

|

|

Epidermolysis bullosa

|KRT5, KRT14, DSP, PKP1, JUP, PLEC1, DST, EXPH5, TGM5, LAMA3, LAMB3, LAMC2, COL17A1, ITGA6, ITGA4, ITGA3, COL7A1, FERMT1

|dominant or recessive

|{{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 }}{{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 }}

| data-sort-value="90000" | 11.08:1,000,000

Erythropoietic protoporphyria

|FECH

|

|

|1:75,000-200,000

Fanconi anemia (FA)

|FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ, FANCL, FANCM, FANCN, FANCP, FANCS, RAD51C, XPF

|

|

|1:130,000

Fabry diseaseGLA (Xq22.1)P

|

|1:117,000-476,000

Factor V Leiden thrombophilia|

|

Fatal familial insomnia

|PRNP

|dominant

|

|

Familial adenomatous polyposisAPC|

|1:10,000-15,000

Familial dysautonomiaIKBKAP

|

|

|

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, ELN, HEY2, TGFB3, TGFBR1, TGFBR2, FBN1, ACTA2, MYLK, SMAD3, PRKG1, MFAP5, TGFB2, SMAD4, MYH11

|dominant

|

|

Feingold syndrome

|MYCN

|

|

|

FG syndromeMED12

|

|

|

FBXW7 neurodevelopmental syndrome

|FBXW7

|

|

|

Fibular aplasia-ectrodactyly syndrome

|

|dominant

|

|

Fine-Lubinsky syndrome

|MAF

|recessive

|

|

Fragile X syndrome

|FMR1

|T

|

|1:4,000 males

1:8,000 females

Friedreich's ataxiaFXNT

|

|1:50,000 (U.S.)

G6PD deficiencyX-linked recessive

|{{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}}

|

GalactosemiaGALT, GALK1, GALE|

|

Gaucher diseaseGBA (1)|

|1:20,000

Gerstmann–Sträussler–Scheinker syndrome

|PRNP

|dominant

|

|

Gillespie syndrome

|PAX6

|

|

|

Glutaric aciduria, type I and type 2

|GCDH, ETFA, ETFB, ETFDH

|recessive

|

|

GRACILE syndrome

|BCS1L

|

|

|

GRIN2B-related neurodevelopmental disorder

|GRIN2B

|

|

|

Griscelli syndromeMYO5A, RAB27A, MLPH

|

|

|

Gustavson syndrome

|

|

|

|

Hailey–Hailey disease

|ATP2C1 (3)

|

|

|

Harlequin type ichthyosisABCA12|

|

Hemochromatosis type 1HFE (chromosome 6)recessive.1:200 (Northern Europe), 1:300 (Northern America)
Hemochromatosis type 2AHJV (or HFE2A) (chromosome 1)recessive

|

|

Hemochromatosis type 2BHAMP (or HFE2B) (chromosome 19)recessive

|

|

Haemochromatosis type 3TFR2 (or HFE3) (chromosome 7)recessive

|

|

Hemochromatosis type 4SLC40A1 (or HFE4) (chromosome 2)dominant

|

|

Hemochromatosis type 5FTH1 (chromosome 11)dominant

|

|

HemophiliaFVIII

|

|

|1:7,500 males (hemophilia A)

1:40,000 males (hemophilia B)

Hepatoerythropoietic porphyriaUROD

|

|

|

Hereditary coproporphyria3q12P

|

|

Hereditary hemorrhagic telangiectasia (Osler–Weber–Rendu syndrome)ENG, ACVRL1, MADH4|

| data-sort-value="5000" | 1:5,000 {{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 }}

Hereditary inclusion body myopathyGNE, MYHC2A, VCP, HNRPA2B1, HNRNPA1

|

|

|

Hereditary multiple exostosesEXT1, EXT2, 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 syndromeHPS1, HPS3, HPS4, HPS5, HPS6, HPS7, AP3B1

|

|

|1:500,000

Hereditary neuropathy with liability to pressure palsies (HNPP)PMP22|

|

Heterotaxy

|NODAL, NKX2-5, ZIC3, CCDC11, CFC1, SESN1

|

|

|

HomocystinuriaCBS (gene)

|recessive

|{{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}}

|

Huntington's disease

|chromosome 4 HTT gene

|autosomal dominant

|

| data-sort-value="10000" | 1:10,000 in US

Hunter syndrome

|IDS

|

|

|1:100,000-150,000 males

Hurler syndrome

|IDUA

|

|

|1:100,000

Hutchinson–Gilford progeria syndromeLMNA

|

|

|1:18,000,000

Hyperlysinemia

|AASS

|recessive

|

|

Hyperoxaluria, primaryAGXT, GRHPR, DHDPSL

|

|

|

Hyperphenylalaninemia12q

|

|

|

Hypoalphalipoproteinemia (Tangier disease)

|ABCA1

|

|

|

HypochondrogenesisCOL2A1

|

|

|

Hypochondroplasia

|FGFR3 (4p16.3)

|

|

|

Immunodeficiency–centromeric instability–facial anomalies syndrome (ICF syndrome)20q11.2|

|

Incontinentia pigmentiIKBKG (Xq28)P

|

|

Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

|MED17

|recessive

|

|

Ischiopatellar dysplasiaTBX4dominant

|

|

Isodicentric 1515q11–14Inv dup

|

| data-sort-value="30000" | 1:30,000 {{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}}

PRICKLE1-related progressive myoclonus epilepsy with ataxia

|PRICKLE1

|dominant or recessive

|

|

Jackson–Weiss syndromeFGFR2|

|

Jacobsen syndrome

|11

|

|

|1:100,000

Joubert syndromeINPP5E, TMEM216, AHI1, NPHP1, CEP290, TMEM67, RPGRIP1L, ARL13B, CC2D2A, OFD1, TMEM138, TCTN3, ZNF423, 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 dysplasiaCOL2A1|

|1:1,000,000

Kosaki overgrowth syndromePDGFRB|

|

Krabbe diseaseGALC|

|1:100,000

Kufor–Rakeb syndrome

|ATP13A2

|

|

|

LCAT deficiency

|LCAT

|

|

|

Lesch–Nyhan syndromeHPRT (X)|

|1:380,000

Li–Fraumeni syndromeTP53

|

|

|

Limb-Girdle Muscular Dystrophy

|Multiple

|dominant or recessive

|{{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}}{{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}}

|1:14,500-123,000

Lynch syndromeMSH2, MLH1, MSH6, PMS2, PMS1, TGFBR2, MLH3

|

|

|1:279

lipoprotein lipase deficiencyrecessive

|

|1:1,000,000

Malignant hyperthermia

|RYR1 (19q13.2)

| dominant

|

|1:5,000-100,000

Maple syrup urine disease

|BCKDHA, BCKDHB, DBT, DLD

|recessive

|

|

Marfan syndrome15qdominant

|

|1:5,000-10,000

Maroteaux–Lamy syndrome

|ARSB

|recessive

|

|1:43,261-1,505,160

McCune–Albright syndrome20 q13.2–13.3|

|1:100,000-1,000,000

McLeod syndromeXK (X)|

|0.5-1:100,000

MEDNIK syndromeAP1S1D

|{{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}}{{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 }}

|

Mediterranean fever, familialMEFV|

|

Menkes diseaseATP7A (Xq21.1)|

|1:100,000-250,000

Methemoglobinemia|

|

Methylmalonic acidemiaMMAA, MMAB, MMACHC, MMADHC, LMBRD1, MUT

|recessive

|

|1:48,000

Micro syndromeRAB3GAP (2q21.3)|

|

MicrocephalyASPM (1q31)P

|

|

Miller-Dieker syndrome

|17p13.3

|D

|

|1:100,000

Morquio syndromeGALNS, GLB1|

|1:200,000-300,000

Mowat–Wilson syndromeZEB2 (2)|

|

Muenke syndromeFGFR3|

|1:30,000

Multiple endocrine neoplasia type 1 (Wermer's syndrome)MEN1dominant

|

|

Multiple endocrine neoplasia type 2

|RET

|dominant

|

|

Muscular dystrophymultiple

|AR, AD, X-linked

|

|

Muscular dystrophy, Duchenne and Becker type|

|

Myostatin-related muscle hypertrophyMSTN

|

|

|

Myotonic dystrophyDMPK, CNBPdominant or T

|

|1:8,000

Natowicz syndrome

|HYAL1

|

|<1:1,000,000

|

Neurofibromatosis type I17q11.2|

|

Neurofibromatosis type IINF2 (22q12.2)|

|

Niemann–Pick diseaseSMPD1, NPA, NPB, NPC1, NPC2|

|1:250,000 (types A and B)

1:150,000 (type C)

Nonketotic hyperglycinemiaGLDC, AMT, GCSH

| recessive

|

|1:60,000

Nonsyndromic deafness|

|

Noonan syndromePTPN11, KRAS, SOS1, RAF1, NRAS, HRAS, BRAF, SHOC2, MAP2K1, MAP2K2, CBLdominant

|

|1:1,000

Norman–Roberts syndrome

|RELN

|recessive

|

|

Ogden syndrome

| X

| P

|

|

Omenn syndrome

|RAG1, RAG2

|recessive

|

|

Osteogenesis imperfectaCOL1A1, COL1A2, IFITM5

|dominant

|

|1:15,000-20,000

Ostravik-Lindemann-Solberg syndrome

|2p15

|autosomal recessive

|{{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}}

|

Pantothenate kinase-associated neurodegenerationPANK2 (20p13–p12.3)recessive

|

|1-3:1,000,000

Patau syndrome (Trisomy 13)13trisomy

|

|

PCC deficiency (propionic acidemia)PCrecessive

|

|1:250,000

Porphyria cutanea tarda (PCT)URODdominant

|

|1:10,000

Pendred syndromePDS (7)recessive

|

|

Peutz–Jeghers syndromeSTK11

|dominant

|

|1:25,000-300,000

Pfeiffer syndromeFGFR1, FGFR2dominant

|

|1:100,000

Phelan-McDermid syndrome

|22q13

|D

|

|

PhenylketonuriaPAHrecessive

|

|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 syndrome15paternal imprinting

|

|1:10,000-30,000

Primary ciliary dyskinesia (PCD)DNAI1, DNAH5, TXNDC3, DNAH11, DNAI2, KTU, RSPH4A, RSPH9, LRRC50

| recessive

|

|1:32,000

Primary pulmonary hypertension|

|

Protein C deficiencyPROC

| dominant

|{{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}}

|1:20,000

Protein S deficiencyPROS1

|dominant

|

|

Proximal 18q deletion syndrome

|18q

|D

|

|

Pseudo-Gaucher disease|

|

Pseudoxanthoma elasticumABCC6

|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 syndromeMECP2

|dominant, often de novo

|

|1:8,500 females

Roberts syndrome

|ESCO2

|recessive

|

|

Rubinstein–Taybi syndrome (RSTS)CREBBP

|dominant

|

|1:125,000-300,000

Sandhoff diseaseHEXBrecessive

|

|

Sanfilippo syndrome

|SGSH, NAGLU, HGSNAT, GNS

|

|

|1:70,000

Scheuermann's disease

|1q21-q22 or 7q22

|autosomal dominant

|

|1:45

Schwartz–Jampel syndromeHSPG2

|recessive

|

|

Sjogren-Larsson syndrome

|ALDH3A2

|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

|

|

|

Spondyloepiphyseal dysplasia congenita (SED)COL2A1

|dominant

|

|

Shprintzen–Goldberg syndromeFBN1dominant

|

|

Sickle cell anemia11p15P

|

|

Siderius X-linked intellectual disability syndromePHF8X-Linked Recessive

|

{{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}}

|

Sideroblastic anemia

|ABCB7, SLC25A38, GLRX5

|recessive

|

|

Sly syndrome

|GUSB

|recessive

|

|1:250,000

Smith–Lemli–Opitz syndromeDHCR7

|recessive

|

|1:20,000-60,000

Smith–Magenis syndrome17p11.2

| dominant

|

|1:15,000-25,000

Snyder–Robinson syndromeXp21.3-p22.12

| recessive

|

|<1:1,000,000

Spinal muscular atrophy5q

|

|

|1:10,000

Spinocerebellar ataxia (types 1–29)ATXN1, ATXN2, ATXN3, PLEKHG4, SPTBN2, CACNA1A, ATXN7, ATXN8OS, ATXN10, TTBK2, PPP2R2B, KCNC3, PRKCG, ITPR1, TBP, KCND3, FGF14

| dominant, recessive or T

|

|

Split hand split foot-nystagmus syndrome

|

|dominant

|

|

SSB syndrome (SADDAN)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, COL9A1dominant or recessive

|

|1:7,500-9,000 (U.S.)

Strudwick syndrome (spondyloepimetaphyseal dysplasia, Strudwick type)COL2A1dominant

|

|

Tay–Sachs diseaseHEXA (15)recessive

|

|

Tetrahydrobiopterin deficiencyGCH1, PCBD1, PTS, QDPR, MTHFR, DHFR

|recessive

|

|

Thanatophoric dysplasiaFGFR3dominant

|

|1:60,000

Thickened earlobes-conductive deafness syndrome

|

|

|

|

Treacher Collins syndrome5q32–q33.1 (TCOF1, POLR1C, or POLR1D)dominant

|

|1:50,000

Tuberous sclerosis complex (TSC)

|TSC1, TSC2

|dominant

|

|7-12:100,000

Turner syndromeXmonosomy

|

| data-sort-value="2000" | 1:2,000-2,500 live female births

Usher syndromeMYO7A, USH1C, CDH23, PCDH15, USH1G, USH2A, GPR98, DFNB31, CLRN1recessive

|

|3-6:100,000 (type I)

Variegate porphyriaPPOXdominant

|

|

Viljoen-Kallis-Voges syndrome

|

|recessive

|

|

von Hippel–Lindau diseaseVHL

|dominant

|

|1:36,000

von Willebrand diseaseVWFdominant

|

|1:10,000

Waardenburg syndromePAX3, MITF, WS2B, WS2C, SNAI2, EDNRB, EDN3, SOX10

| dominant

|

|1:42,000

Warkany syndrome 2

|8

|trisomy

|

|

Weissenbacher–Zweymüller syndromeCOL11A2recessive

|

|

Weyer's ulnar ray/oligodactyly syndrome

|

|recessive

|

|

Williams syndrome7q11.23dominant

|

| data-sort-value="10000" | 1:10,000

Wilson diseaseATP7Brecessive

|

|1:30,000

Woodhouse–Sakati syndrome

|C2ORF37 (2q22.3–q35)

recessive

|

|

Wolf–Hirschhorn syndrome4p16.3dominant, often de novo

|

|1:50,000

Xeroderma pigmentosum15 ERCC4recessive

|

|

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

| Xp11.2

D

|

{{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}}

| 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 (triple X syndrome)

|X

|C

|

|1:1,000 females

XXXX syndrome (48, XXXX)X|

|1:50,000 females

XXXXX syndrome (49,XXXXX)

|X

|

|

|1:85,000-250,000 females

XXXXY syndrome (49,XXXXY)

|X

|

|

|1:85,000-100,000 males

XYY syndrome (47,XYY)

|Y

|

|

|1:1,000 male births

XXYY syndrome (48,XXYY)

|X, Y

|

|

|1:18,000-40,000 males

XYYY syndrome (48,XYYY)

|Y

|

|

|

XXXY syndrome (48,XXXY)

|X

|

|

|1:50,000 males

XYYYY syndrome (49,XYYYY)

|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}}

*

Disorder

Genetic disorders

Genetic disorders

Genetic disorders