List of genetic disorders

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The following is a list of genetic disorders and if known, type of mutation and the chromosome involved. The list of human genes includes genes not listed here, which also affect predisposition toward certain diseases.

Most common disorders[edit]

Disorder Mutation Chromosome
22q11.2 deletion syndrome D 22q
Angelman syndrome DCP 15
Canavan disease 17p
Charcot–Marie–Tooth disease
Color blindness P X
Cri du chat D 5
Cystic fibrosis P 7q
Down syndrome C 21
Duchenne muscular dystrophy D Xp
Haemochromatosis P 6
Haemophilia P X
Klinefelter syndrome C X
Neurofibromatosis 17q/22q/?
Phenylketonuria P 12q
Polycystic kidney disease P 16 (PKD1) or 4 (PKD2)
Prader–Willi syndrome DC 15
Sickle-cell disease P 11p
Spinal muscular atrophy DP 5q
Tay–Sachs disease P 15
Turner syndrome C X

Full list[edit]

Sortable table
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

See also[edit]

References[edit]

  1. ^ http://www.cdc.gov/genomics/gtesting/ACCE/FBR/
  2. ^ http://www.ctv.ca/servlet/ArticleNews/story/CTVNews/20081204/Mutated_Gene_081204/20081204?hub=Health
  3. ^ http://www.eurekalert.org/pub_releases/2008-12/plos-an120308.php