| Disorder name |
Mutation type |
Chromosome |
| 1p36 deletion syndrome |
D |
1p36 |
| 18p deletion syndrome |
D |
18p |
| 21-hydroxylase deficiency |
|
6p21.3 |
47,XXX
see triple X syndrome |
C |
X |
47,XXY
see Klinefelter syndrome |
C |
X |
5-ALA dehydratase-deficient porphyria
see ALA dehydratase deficiency |
|
|
AAT
see alpha 1-antitrypsin deficiency |
|
14q32 |
| aceruloplasminemia |
|
3p26.3 |
| Achondrogenesis type II |
|
12q13.11 |
| achondroplasia | substitution | 4p16.3 |
Acrocephaly
see Apert syndrome |
|
10q26.13 |
| acute intermittent porphyria | | |
| adenylosuccinate lyase deficiency | | |
| Adrenoleukodystrophy | | |
| Alagille syndrome | | |
| Albinism | | |
| Alexander disease | | |
| alkaptonuria | | |
ALS
see amyotrophic lateral sclerosis | | |
| Alström syndrome | | |
| Alzheimer's disease | | |
| Amelogenesis imperfecta | | |
| androgen insensitivity syndrome | | |
| Anemia | | |
| Angelman syndrome | | |
| ataxia telangiectasia | | |
B variant of the Hexosaminidase GM2 gangliosidosis
see Sandhoff disease | | |
| Beare-Stevenson cutis gyrata syndrome | | 10q26 |
| Benjamin syndrome | | |
| biotinidase deficiency | | |
| Birth Defects |
|
|
| Bloom syndrome | | 15q26.1 |
| Birt–Hogg–Dubé syndrome | | 17 |
Broad Thumb-Hallux syndrome
see Rubinstein-Taybi syndrome | | |
| CADASIL syndrome | P | 3 |
| CGD Chronic granulomatous disorder | | |
| Campomelic dysplasia | C | 17q24.3-q25.1 |
| Canavan disease | | |
| Cancer | | |
Caylor cardiofacial syndrome
see 22q11.2 deletion syndrome | D | 22q |
CF
see cystic fibrosis[1] | D (most common);
or substitution | CFTR (7q31.2) |
| Charcot–Marie–Tooth disease | | |
| CHARGE syndrome |
|
|
Chondrodystrophy with dysplasia
see otospondylomegaepiphyseal dysplasia | | |
| Cockayne syndrome | | |
| Coffin–Lowry syndrome | | |
| collagenopathy, types II and XI | | |
| Cowden syndrome | | |
CPO deficiency
see hereditary coproporphyria | | |
| Cri du chat | D | 5p |
| Crohn's disease, | P | 16q12 |
| Crouzon syndrome | | FGFR2 (10q25.3-q26) |
Crouzon syndrome with acanthosis nigricans
see Crouzonodermoskeletal syndrome | | |
cutis gyrata syndrome of Beare-Stevenson
see Beare-Stevenson cutis gyrata syndrome | | |
Genetic hypercalciuria
see Dent's disease | | Xp11.22 |
de Grouchy syndrome 1
see De Grouchy syndrome | D | 18p |
| Di George's syndrome | D | 22q |
| distal hereditary motor neuropathy | | |
| Ehlers–Danlos syndrome | | |
Erythroblastic anemia
see beta-thalassemia | | |
FA
see fanconi anemia | | |
| Fabry disease | P | Xq22.1 |
| factor V Leiden thrombophilia | | |
| familial adenomatous polyposis | | |
| familial dysautonomia | | |
| FG syndrome | | |
| Friedreich's ataxia | | |
| G6PD deficiency | | |
| galactosemia | | |
| Gaucher disease | | |
Glioma, retinal
see retinoblastoma | | |
Glycine encephalopathy
see Nonketotic hyperglycinemia | | |
Haemochromatosis
see hemochromatosis | | |
| Harlequin type ichthyosis | | |
| hemophilia | | |
| hepatoerythropoietic porphyria | | |
| Hereditary coproporphyria | P | 3q12 |
| Hereditary hemorrhagic telangiectasia (HHT) |
|
|
Hereditary Inclusion Body Myopathy
see skeletal muscle regeneration | | |
| Hereditary multiple exostoses | | |
Hereditary spastic paraplegia
see infantile-onset ascending hereditary spastic paralysis | | |
Hereditary spinal ataxia
see Friedreich's ataxia | | |
HNPP
see hereditary neuropathy with liability to pressure palsies | | |
| homocystinuria | | |
| Huntington's disease | T | 4p16.3 |
Hutchinson–Gilford progeria syndrome
see progeria | | |
| hyperoxaluria, primary | | |
| hyperphenylalaninemia | | |
| Hypochondrogenesis |
|
|
| Hypochondroplasia |
|
4p16.3 |
ICF syndrome
see Immunodeficiency, centromere instability and facial anomalies syndrome | | 20q11.2 |
| Incontinentia pigmenti | P | Xq28 |
| infantile-onset ascending hereditary spastic paralysis | | |
Isodicentric 15
see isodicentric 15 | Inv dup | 15q11-14 |
| Jackson–Weiss syndrome | | |
| Joubert syndrome | | |
JPLS
see Juvenile Primary Lateral Sclerosis | | ALS2 |
| Keloid disorder | | |
| Kniest dysplasia | | |
| Krabbe disease | | |
| Lesch-Nyhan syndrome | | |
| Li-Fraumeni syndrome | | |
| lipoprotein lipase deficiency, familial | | |
| Marfan syndrome | | 15 |
| McCune–Albright syndrome | | 20 q13.2-13.3 |
| McLeod syndrome | | X |
| MEDNIK[2][3] | D | AP1S1 |
| Mediterranean fever, familial | | |
| Menkes disease | | |
Mental retardation with osteocartilaginous abnormalities
see Coffin–Lowry syndrome | | |
| Methemoglobinemia | | |
| methylmalonic acidemia | | |
| Micro syndrome | | 2q21.3 |
| Microcephaly | P | 1q31 (ASPM) |
| Mowat-Wilson syndrome | | |
| Mucopolysaccharidosis (MPS I) | | |
| Muenke syndrome | | |
| Muscular dystrophy | | |
| Muscular dystrophy, Duchenne and Becker type | | |
| myotonic dystrophy | | |
| Neurofibromatosis type I | | 17q11.2 |
| Neurofibromatosis type II | | |
Niemann-Pick
see Niemann–Pick disease | NPA, NPB, NPC1, NPC2,
Sphingomyelin phosphodiesterase 1 | SMPD1 |
Nonketotic hyperglycinemia
see Glycine encephalopathy | | |
| nonsyndromic deafness | | |
| Noonan syndrome | | |
| Ogden syndrome |
P |
X |
| osteogenesis imperfecta | | |
| pantothenate kinase-associated neurodegeneration | | |
| Patau Syndrome (Trisomy 13) | | |
PCC deficiency
see propionic acidemia | | |
PCT
see porphyria cutanea tarda | | |
| Pendred syndrome | | |
| Peutz-Jeghers syndrome | | |
| Pfeiffer syndrome | | |
| phenylketonuria | | |
| Polycystic kidney disease |
P |
16 (PKD1) or 4 (PKD2) |
| porphyria | | |
| Prader-Willi syndrome | | |
| Primary ciliary dyskinesia (PCD) | | |
| primary pulmonary hypertension | | |
| protein C deficiency | | |
| protein S deficiency | | |
protoporphyria
see erythropoietic protoporphyria | | |
| Prion disease |
|
|
| pseudo-Gaucher disease | | |
| pseudoxanthoma elasticum | | |
| Rett syndrome | | |
RSTS
see Rubinstein-Taybi syndrome | | |
| Schwartz–Jampel syndrome | | |
SED congenita
see spondyloepiphyseal dysplasia congenita | | |
| sickle cell anemia | P | 11p15 |
Siderius X-linked mental retardation syndrome
caused by mutations in the PHF8 gene | PD | Xp11.22 |
| Smith-Lemli-Opitz syndrome | | |
| Smith Magenis Syndrome | | |
| spinal muscular atrophy | | |
| spinocerebellar ataxia | | |
SSB syndrome
see SADDAN | | |
| Stickler syndrome | | |
Strudwick syndrome
see spondyloepimetaphyseal dysplasia, Strudwick type | | |
| Tay-Sachs disease | | |
| tetrahydrobiopterin deficiency | | |
| thanatophoric dysplasia | | |
| Treacher Collins syndrome | | 5q32-q33.1 |
Trisomy 21
see Down syndrome | | |
| Tuberous Sclerosis Complex (TSC)
see Tuberous sclerosis |
|
TSC1, TSC2 |
Turner's syndrome
see Turner syndrome | | X |
| Usher syndrome | | |
| variegate porphyria | | |
| von Hippel-Lindau disease | | |
| Waardenburg syndrome | | |
| Weissenbacher-Zweymüller syndrome | | |
| Williams Syndrome | | |
| Wilson disease | | |
| Wolf–Hirschhorn syndrome | D | 4p |
| Xeroderma pigmentosum | ERCC4 | 15 |
X-linked mental retardation and macroorchidism
see fragile X syndrome | | X |
X-linked spinal-bulbar muscle atrophy
see spinal and bulbar muscular atrophy | | X |
X-SCID
see X-linked severe combined immunodeficiency | | X |
XLSA
see X-linked sideroblastic anemia | | X |
XXXX syndrome
see 48, XXXX | | X |
XXXXX syndrome
see 49, XXXXX | | X |
XYY syndrome
see 47,XYY syndrome | | X |