Cytoscape Web
Click node...

Tangier disease
1 OMIM reference -
1 associated gene
24 connected diseases
No signs/symptoms info
Disease Type of connection
Apolipoprotein A-I deficiency
Romano-Ward syndrome
FADD-related immunodeficiency
Familial renal amyloidosis due to Apolipoprotein AI variant
Oculootodental syndrome
Primary systemic amyloidosis
Xeroderma pigmentosum complementation group C
X-linked non-syndromic intellectual deficit
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Congenital communicating hydrocephalus
Congenital non-bullous ichthyosiform erythroderma
Harlequin ichthyosis
Hereditary sensory and autonomic neuropathy type 1
Lamellar ichthyosis
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Hypohidrotic ectodermal dysplasia with immunodeficiency
Incontinentia pigmenti
Joubert syndrome with renal defect
Retinitis pigmentosa
Spinocerebellar ataxia type 10
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Williams syndrome
Synonym(s):
- Defective adenosine triphosphate-binding cassette transporter A1
Classification (Orphanet):
- Inborn errors of metabolism
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: D013631
Gene symbol UniProt reference OMIM reference
ABCA1 O95477600046
No signs/symptoms info available.