List of genetic disorders
The following is a list of genetic disorders and if known, type of mutation and the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in these genes that causes the disease.
Most common disorders
- P – Point mutation, or any insertion/deletion entirely inside one gene
- D – Deletion of a gene or genes
- C – Whole chromosome extra, missing, or both
- T – Trinucleotide repeat disorders: gene is extended in length
Full genetic disorders list
| Disorder | Chromosome or gene | Type | Reference | Prevalence |
| 1p36 deletion syndrome | 1p36 | D | 1:7,500 | |
| 18p deletion syndrome | 18p | D | 1:50,000 | |
| 21-hydroxylase deficiency | 6p21.3 | recessive | 1:15,000 | |
| Alpha 1-antitrypsin deficiency | 14q32 | co-dominant, | 1:2,500-5,000 | |
| AAA syndrome | AAAS | recessive | ||
| Aarskog–Scott syndrome | FGD1 | X-linked recessive | 1:25,000 | |
| ABCD syndrome | EDNRB | recessive | 1:18,000-20,000 | |
| Aceruloplasminemia | CP | recessive | 1:2,000,000 | |
| Acheiropodia | LMBR1 | recessive | ||
| Achondrogenesis type II | COL2A1 | dominant | 1:40,000-60,000 | |
| achondroplasia | FGFR3 | dominant | 1:2,000 | |
| Acute intermittent porphyria | HMBS | dominant and recessive forms | 1:500-50,000 | |
| adenylosuccinate lyase deficiency | ADSL | recessive | 1:7,800,0000 | |
| Adrenoleukodystrophy | ABCD1 | recessive | 1:17,000 | |
| Alagille syndrome | JAG1, NOTCH2 | dominant | 1:30,000-50,000 | |
| ADULT syndrome | TP63 | dominant | ||
| 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 | ||
| 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 | ||
| Amyotrophic lateral sclerosis – Frontotemporal dementia | C9orf72, SOD1, FUS, TARDBP, CHCHD10, MAPT | 1:100,000 | ||
| Alström syndrome | ALMS1 | 1:8,600,000 | ||
| Alzheimer's disease | PSEN1, PSEN2, APP, APOEε4 | 1:177 | ||
| 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 | ||
| 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 | ||
| 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 | ||
| 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 | P | 1:156,000,000 | |
| CRASIL syndrome | HTRA1 | 1:156,000,000 | ||
| Chronic granulomatous disorder | 1:200,000 | |||
| Campomelic dysplasia | X 17q24.3–q25.1 | C | 1:40,000-200,000 | |
| Canavan disease | ASPA | 1:6,400-13,500 | ||
| Carpenter Syndrome | RAB23 | 1:1,000,000 |