Selected list of genetic disorders

A curated list of genetic disorders that are, despite being classified as rare conditions, are more commonly encountered, and therefore deemed especially significant within the field of medical genetics. This list includes conditions, where a certain body of scientific knowledge is available, and those for which genetic testing and consultations are readily available.

Disorder Chromosome or gene Prevalence
1p36 deletion syndrome 1 1:7,500
1q21.1 deletion syndrome 1q21.1  
2q37 deletion syndrome 2q37  
5q deletion syndrome 5q  
5,10-methenyltetrahydrofolate synthetase deficiency MTHFS  
7p22.1 microduplication syndrome 7p22.1  
17q12 microdeletion syndrome 17q12 1:14,000-62,500
17q12 microduplication syndrome 17q12  
18p deletion syndrome 18p 1:50,000
21-hydroxylase deficiency 6p21.3 1:15,000
Alpha 1-antitrypsin deficiency 14q32 1:2,500-5,000
AAA syndrome (achalasia–addisonianism–alacrima syndrome) AAAS 1:1,000,000
Aarskog–Scott syndrome FGD1 1:25,000
ABCD syndrome EDNRB 1:18,000-20,000
Absence deformity of leg-cataract syndrome    
Aceruloplasminemia CP (3p26.3) 1:2,000,000
Acheiropodia LMBR1  
Achondrogenesis type II COL2A1 (12q13.11) 1:40,000-60,000
Achondroplasia FGFR3 (4p16.3) 1:27,500
Acute intermittent porphyria HMBS 1:500-50,000
Adenylosuccinate lyase deficiency ADSL  
Adrenoleukodystrophy ABCD1 (X) 1:17,000
Alagille syndrome JAG1, NOTCH2 1:30,000-50,000
ADULT syndrome TP63  
Aicardi–Goutières syndrome TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, IFIH1 1:19,500,000
Albinism   1:18,000-20,000
Alexander disease GFAP 1:15,600,000
Alfi's syndrome 9p 1:50,000
Alkaptonuria HGD 1:250,000-1,000,000
Alport syndrome 10q26.13 COL4A3, COL4A4, and COL4A5" 1:5,000-10,000
Alternating hemiplegia of childhood ATP1A3 1:1,000,000
Aortic arch anomaly - peculiar facies - intellectual disability    
Amish lethal microcephaly SLC25A19  
Amyotrophic lateral sclerosis – Frontotemporal dementia C9orf72, SOD1, FUS, TARDBP, CHCHD10, MAPT 1:100,000
Angel-shaped phalango-epiphyseal dysplasia GDF5  
Alström syndrome ALMS1 1:8,600,000
Amelogenesis imperfecta   1:14,000
Aminolevulinic acid dehydratase deficiency porphyria ALAD 1:780,000,000
Androgen insensitivity syndrome   1:20,000-50,000
Angelman syndrome UBE3A 1:12,000-20,000
Aphalangy-syndactyly-microcephaly syndrome    
Apert syndrome FGFR2 1:65,000-80,000
Arthrogryposis–renal dysfunction–cholestasis syndrome VPS33B 1:78,000,000
Ataxia telangiectasia ATM 1:40,000-1,000,000
Axenfeld syndrome PITX2, FOXO1A, FOXC1, PAX6 1:200,000
Bainbridge–Ropers syndrome ASXL3  
Beare–Stevenson cutis gyrata syndrome 10q26, FGFR2" 1:390,000,000
Beckwith–Wiedemann syndrome IGF-2, CDKN1C, H19, KCNQ1OT1 1:15,000
Benjamin syndrome   1:20,000,000
biotinidase deficiency BTD 1:110,000,000
Björnstad syndrome BCS1L 1:260,000,000
Blepharophimosis intellectual disability syndromes    
Bloom syndrome 15q26.1 1:480,000
Birt–Hogg–Dubé syndrome 17 FLCN 1:19,500,000
Brody myopathy ATP2A1 1:10,000,000
Brunner syndrome MAOA 1:500,000,000
CADASIL syndrome NOTCH3 1:156,000,000
Cat eye syndrome 22 1:74,000
CRASIL syndrome HTRA1 1:156,000,000
Chronic granulomatous disorder   1:200,000
Campomelic dysplasia X 17q24.3–q25.1 1:40,000-200,000
Camptodactyly-taurinuria syndrome    
Canavan disease ASPA 1:6,400-13,500
Carpenter Syndrome RAB23 1:1,000,000
CDKL5 deficiency disorder CDKL5 1:40,000-60,000
Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome (CEDNIK) SNAP29 <1:1,000,000
Cleft palate short stature vertebral anomalies syndrome    
Combined malonic and methylmalonic aciduria (CMAMMA) ACSF3 1:30,000
Combined malonic and methylmalonic aciduria (CMAMMA) MLYCD  
Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome    
Cystic fibrosis CFTR (7q31.2) 1:100,000
Charcot–Marie–Tooth disease "PMP22, MFN2" 1:2,500
CHARGE syndrome CHD7 1:8,500-10,000
Chédiak–Higashi syndrome LYST 1:39,000,000
Chondrodysplasia, Grebe type GDF5  
Cleidocranial dysostosis RUNX2 1:7,800
Cockayne syndrome ERCC6, ERCC8 1:2,600-3,900
Coffin–Lowry syndrome X RPS6KA3 1:40,000-50,000
Cohen syndrome COH1 1:7,800,000
Collagenopathy, types II and XI COL11A1, COL11A2, COL2A1  
Congenital insensitivity to pain with anhidrosis (CIPA) NTRK1  
Congenital Muscular Dystrophy multiple  
Corneal dystrophy-perceptive deafness syndrome SLC4A11  
Cornelia de Lange syndrome (CDLS) HDAC8, SMC1A, NIPBL, SMA3, RAD21 1:10,000-30,000
Cowden syndrome PTEN 1:200,000
CPO deficiency (coproporphyria) CPOX  
Cranio-lenticulo-sutural dysplasia 14q13–q21  
Cri du chat 5p15.2 1:37,000-50,000
Crohn's disease 16q12  
Crouzon syndrome FGFR2, FGFR3 1.6:100,000
Crouzonodermoskeletal syndrome (Crouzon syndrome with acanthosis nigricans) FGFR3 1:1,000,000
Currarino syndrome HLXB9 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 18q  
Dolichonychia    
Down Syndrome 21
DiGeorge syndrome 22q11.2 1:4,000
Distal hereditary motor neuropathies, multiple types HSPB8, HSPB1, HSPB3, GARS, REEP1, IGHMBP2, SLC5A7, DCTN1, TRPV4, SIGMAR1  
Distal muscular dystrophy Dysferlin, TIA1, MYH7, Titin, MYOT, MATR3,  
Duchenne muscular dystrophy Dystrophin  
Dravet syndrome SCN1A, SCN2A 1:20,000-40,000
Ectrodactyly-polydactyly syndrome    
Edwards Syndrome 18 1:5,000
Ehlers–Danlos syndrome COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, TNXB, ADAMTS2, PLOD1, B4GALT7, DSE 1:5,000
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 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 disease GLA (Xq22.1) 1:117,000-476,000
Factor V Leiden thrombophilia    
Fatal familial insomnia PRNP  
Familial adenomatous polyposis APC 1:10,000-15,000
Familial dysautonomia IKBKAP  
Familial Creutzfeld–Jakob Disease PRNP  
Familial episodic pain syndrome TRPA1, SCN10A, SCN11A  
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  
Feingold syndrome MYCN  
FG syndrome MED12  
FBXW7 neurodevelopmental syndrome FBXW7  
Fibular aplasia-ectrodactyly syndrome    
Fine-Lubinsky syndrome MAF  
Fragile X syndrome FMR1
Friedreich's ataxia FXN 1:50,000 (U.S.)"
G6PD deficiency    
Galactosemia GALT, GALK1, GALE  
Gaucher disease GBA (1) 1:20,000
Gerstmann–Sträussler–Scheinker syndrome PRNP  
Gillespie syndrome PAX6  
Glutaric aciduria, type I and type 2 GCDH, ETFA, ETFB, ETFDH  
GRACILE syndrome BCS1L  
GRIN2B-related neurodevelopmental disorder GRIN2B  
Griscelli syndrome MYO5A, RAB27A, MLPH  
Gustavson syndrome    
Hailey–Hailey disease ATP2C1 (3)  
Harlequin type ichthyosis ABCA12  
Hemochromatosis type 1 HFE (chromosome 6) 1:200 (Northern Europe), 1:300 (Northern America)"
Hemochromatosis type 2A HJV (or HFE2A) (chromosome 1)  
Hemochromatosis type 2B HAMP (or HFE2B) (chromosome 19)  
Haemochromatosis type 3 TFR2 (or HFE3) (chromosome 7)  
Hemochromatosis type 4 SLC40A1 (or HFE4) (chromosome 2)  
Hemochromatosis type 5 FTH1 (chromosome 11)  
Hemophilia FVIII
Hepatoerythropoietic porphyria UROD  
Hereditary coproporphyria 3q12  
Hereditary hemorrhagic telangiectasia (Osler–Weber–Rendu syndrome) ENG, ACVRL1, MADH4 1:5,000
Hereditary inclusion body myopathy GNE, MYHC2A, VCP, HNRPA2B1, HNRNPA1  
Hereditary multiple exostoses EXT1, EXT2, EXT3 1:50,000
Hereditary spastic paraplegia (infantile-onset ascending hereditary spastic paralysis) AP4M1, AP4S1, AP4B1, AP4E1 "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, ZIC3, CCDC11, CFC1, SESN1  
Homocystinuria CBS (gene)  
Huntington's disease chromosome 4 HTT gene 1:10,000 in US"
Hunter syndrome IDS 1:100,000-150,000 males"
Hurler syndrome IDUA 1:100,000
Hutchinson–Gilford progeria syndrome LMNA 1:18,000,000
Hyperlysinemia AASS  
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)  
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly MED17  
Ischiopatellar dysplasia TBX4  
Isodicentric 15 15q11–14 1:30,000
PRICKLE1-related progressive myoclonus epilepsy with ataxia PRICKLE1  
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, AMRC9  
Juvenile-onset dystonia ACTB, IMPDH2  
Juvenile primary lateral sclerosis (JPLS) ALS2  
Keloid disorder    
KIF1A-Associated Neurological Disorder KIF1A (2q37.3)  
Kleefstra syndrome 9q34  
Kniest dysplasia COL2A1 1:1,000,000
Kosaki overgrowth syndrome PDGFRB  
Krabbe disease GALC 1:100,000
Kufor–Rakeb syndrome ATP13A2  
LCAT deficiency LCAT  
Lesch–Nyhan syndrome HPRT (X) 1:380,000
Li–Fraumeni syndrome TP53  
Limb-Girdle Muscular Dystrophy Multiple 1:14,500-123,000
Lynch syndrome MSH2, MLH1, MSH6, PMS2, PMS1, TGFBR2, MLH3 1:279
lipoprotein lipase deficiency   1:1,000,000
Malignant hyperthermia RYR1 (19q13.2) 1:5,000-100,000
Maple syrup urine disease "BCKDHA, BCKDHB, DBT, DLD"  
Marfan Syndrome 15q 1:5,000-10,000
Maroteaux–Lamy syndrome ARSB 1:43,261-1,505,160
McCune–Albright syndrome 20 q13.2–13.3 1:100,000-1,000,000
McLeod syndrome XK (X) "0.5-1:100,000
MEDNIK syndrome AP1S1  
"Mediterranean fever, familial" MEFV  
Menkes disease ATP7A (Xq21.1) 1:100,000-250,000
Methemoglobinemia    
Methylmalonic acidemia MMAA, MMAB, MMACHC, MMADHC, LMBRD1, MUT 1:48,000
Micro syndrome RAB3GAP (2q21.3)  
Microcephaly ASPM (1q31)  
Miller-Dieker syndrome 17p13.3 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  
Multiple endocrine neoplasia type 2 RET  
Muscular dystrophy multiple  
Muscular dystrophy, Duchenne and Becker type    
Myostatin-related muscle hypertrophy MSTN  
Myotonic dystrophy Type I and Type II DMPK, CNBP 1:8,000
Natowicz syndrome HYAL1 "<1:1,000,000
Neurofibromatosis type I NF1 (17q11.2)  
Neurofibromatosis type II NF2 (22q12.2)  
Niemann–Pick disease SMPD1, NPA, NPB, NPC1, NPC2
Nonketotic hyperglycinemia GLDC, AMT, GCSH 1:60,000
Nonsyndromic deafness    
Noonan syndrome PTPN11, KRAS, SOS1, RAF1, NRAS, HRAS, BRAF, SHOC2, MAP2K1, MAP2K2, CBL 1:1,000
Norman–Roberts syndrome RELN  
Ogden syndrome X  
Omenn syndrome RAG1, RAG2  
Osteogenesis imperfecta "COL1A1, COL1A2, IFITM5" 1:15,000-20,000
Ostravik-Lindemann-Solberg syndrome 2p15  
Pantothenate kinase-associated neurodegeneration PANK2 (20p13–p12.3) 1-3:1,000,000
Patau syndrome (Trisomy 13) 13  
PCC deficiency (propionic acidemia) PC 1:250,000
Porphyria cutanea tarda (PCT) UROD 1:10,000
Pendred syndrome PDS (7)  
Peutz–Jeghers syndrome STK11 1:25,000-300,000
Pfeiffer syndrome FGFR1, FGFR2 1:100,000
Phelan-McDermid syndrome 22q13  
Phenylketonuria PAH 1:12,000
Pipecolic acidemia AASDHPPT  
Pitt–Hopkins syndrome TCF4 (18) 1:11,000-41,000
Polycystic kidney disease PKD1 (16) or PKD2 (4)  
Polycystic ovary syndrome (PCOS)    
Porphyria   1-100:50,000
Prader–Willi syndrome 15 1:10,000-30,000
Primary ciliary dyskinesia (PCD) DNAI1, DNAH5, TXNDC3, DNAH11, DNAI2, KTU, RSPH4A, RSPH9, LRRC50 1:32,000
Primary pulmonary hypertension    
Protein C deficiency PROC 1:20,000
Protein S deficiency PROS1  
Proximal 18q deletion syndrome 18q  
Pseudo-Gaucher disease    
Pseudoxanthoma elasticum ABCC6 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 1:4,000
Rett syndrome MECP2 1:8,500 females"
Roberts syndrome ESCO2  
Rubinstein–Taybi syndrome (RSTS) CREBBP 1:125,000-300,000
Sandhoff disease HEXB  
Sanfilippo syndrome SGSH, NAGLU, HGSNAT, GNS 1:70,000
Scheuermann's disease 1q21-q22 or 7q22
Schwartz–Jampel syndrome HSPG2  
Sjogren-Larsson syndrome ALDH3A2  
Skin fragility-woolly hair-palmoplantar keratoderma syndrome DSP  
Spondyloepiphyseal dysplasia congenita (SED) COL2A1  
Shprintzen–Goldberg syndrome FBN1  
Sickle cell anemia 11p15  
Siderius X-linked mental retardation syndrome PHF8  
Sideroblastic anemia ABCB7, SLC25A38, GLRX5  
Sly syndrome GUSB 1:250,000
Smith–Lemli–Opitz syndrome DHCR7 1:20,000-60,000
Smith–Magenis syndrome 17p11.2 1:15,000-25,000
Snyder–Robinson syndrome Xp21.3-p22.12 "<1:1,000,000
Spinal muscular atrophy 5q 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  
Split hand split foot-nystagmus syndrome    
SSB syndrome (SADDAN) FGFR3  
Stargardt disease (macular degeneration) ABCA4, CNGB3, ELOVL4, PROM1 1-1.28:10,000
Stickler syndrome (multiple forms) COL11A1, COL11A2, COL2A1, COL9A1 1:7,500-9,000 (U.S.)"
Strudwick syndrome (spondyloepimetaphyseal dysplasia, Strudwick type) COL2A1  
Tay–Sachs disease HEXA (15)  
Tetrahydrobiopterin deficiency GCH1, PCBD1, PTS, QDPR, MTHFR, DHFR  
Thanatophoric dysplasia FGFR3 1:60,000
Thickened earlobes-conductive deafness syndrome    
Treacher Collins syndrome 5q32–q33.1 (TCOF1, POLR1C, or POLR1D) 1:50,000
Tuberous sclerosis complex (TSC) TSC1, TSC2 7-12:100,000
Turner syndrome X 1:2,000-2,500 live female births"
Usher syndrome MYO7A, USH1C, CDH23, PCDH15, USH1G, USH2A, GPR98, DFNB31, CLRN1
Variegate porphyria PPOX  
Viljoen-Kallis-Voges syndrome    
von Hippel–Lindau disease VHL 1:36,000
von Willebrand disease VWF 1:10,000
Waardenburg syndrome PAX3, MITF, WS2B, WS2C, SNAI2, EDNRB, EDN3, SOX10 1:42,000
Warkany syndrome 2 8  
Weissenbacher–Zweymüller syndrome COL11A2  
Weyer's ulnar ray/oligodactyly syndrome    
Williams syndrome 7q11.23 1:10,000
Wilson disease ATP7B 1:30,000
Woodhouse–Sakati syndrome C2ORF37 (2q22.3–q35)  
Wolf–Hirschhorn syndrome 4p16.3 1:50,000
Xeroderma pigmentosum 15 ERCC4  
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 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 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