MCID: HRD143
MIFTS: 4

Hereditary Hypercarotenemia and Vitamin a Deficiency

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Hereditary Hypercarotenemia and Vitamin a Deficiency

MalaCards integrated aliases for Hereditary Hypercarotenemia and Vitamin a Deficiency:

Name: Hereditary Hypercarotenemia and Vitamin a Deficiency 59

Characteristics:

Orphanet epidemiological data:

59
hereditary hypercarotenemia and vitamin a deficiency
Inheritance: Autosomal dominant;

Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

Orphanet 59 ORPHA199285
ICD10 via Orphanet 34 E50.8

Summaries for Hereditary Hypercarotenemia and Vitamin a Deficiency

MalaCards based summary : Hereditary Hypercarotenemia and Vitamin a Deficiency An important gene associated with Hereditary Hypercarotenemia and Vitamin a Deficiency is BCO1 (Beta-Carotene Oxygenase 1).

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Symptoms & Phenotypes for Hereditary Hypercarotenemia and Vitamin a Deficiency

Drugs & Therapeutics for Hereditary Hypercarotenemia and Vitamin a Deficiency

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Variations for Hereditary Hypercarotenemia and Vitamin a Deficiency

Expression for Hereditary Hypercarotenemia and Vitamin a Deficiency

Search GEO for disease gene expression data for Hereditary Hypercarotenemia and Vitamin a Deficiency.

Pathways for Hereditary Hypercarotenemia and Vitamin a Deficiency

GO Terms for Hereditary Hypercarotenemia and Vitamin a Deficiency

Sources for Hereditary Hypercarotenemia and Vitamin a Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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