MCID: HRD143
MIFTS: 6

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 58

Characteristics:

Orphanet epidemiological data:

58
hereditary hypercarotenemia and vitamin a deficiency
Inheritance: Autosomal dominant;

Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

ICD10 via Orphanet 33 E50.8
Orphanet 58 ORPHA199285

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).

Related Diseases for Hereditary Hypercarotenemia and Vitamin a Deficiency

Symptoms & Phenotypes for Hereditary Hypercarotenemia and Vitamin a Deficiency

Drugs & Therapeutics for Hereditary Hypercarotenemia and Vitamin a Deficiency

Search Clinical Trials , NIH Clinical Center for Hereditary Hypercarotenemia and Vitamin a Deficiency

Genetic Tests for Hereditary Hypercarotenemia and Vitamin a Deficiency

Anatomical Context for Hereditary Hypercarotenemia and Vitamin a Deficiency

Publications for Hereditary Hypercarotenemia and Vitamin a Deficiency

Articles related to Hereditary Hypercarotenemia and Vitamin a Deficiency:

# Title Authors PMID Year
1
Loss-of-function mutation in carotenoid 15,15'-monooxygenase identified in a patient with hypercarotenemia and hypovitaminosis A. 6
17951468 2007
2
Familial hypercarotinaemia and hypovitaminosis A. 6
5453458 1970

Variations for Hereditary Hypercarotenemia and Vitamin a Deficiency

ClinVar genetic disease variations for Hereditary Hypercarotenemia and Vitamin a Deficiency:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BCO1 NM_017429.3(BCO1):c.509C>T (p.Thr170Met) SNV Pathogenic 4772 rs119478057 GRCh37: 16:81298282-81298282
GRCh38: 16:81264677-81264677

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....