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CBAS5
MCID: BLC016
MIFTS: 29
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Bile Acid Synthesis Defect, Congenital, 5 (CBAS5)
Categories:
Blood diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases
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MalaCards integrated aliases for Bile Acid Synthesis Defect, Congenital, 5:
Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
onset in infancy progressive disorder one patient has been reported (last curated march 2015) HPO:31
bile acid synthesis defect, congenital, 5:
Inheritance autosomal recessive inheritance Onset and clinical course infantile onset progressive Classifications:
MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases Anatomical: Liver diseases Neuronal diseases Gastrointestinal diseases Nephrological diseases Oral diseases Blood diseases |
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Disease Ontology :
12
A congenital bile acid synthesis defect characterized by hepatomegaly, liver fibrosis and failure, splenomegaly, and elevated plasma levels of bile acid intermediates that has material basis in homozygous mutation in the ABCD3 gene on chromosome 1p21.
MalaCards based summary : Bile Acid Synthesis Defect, Congenital, 5, also known as congenital bile acid synthesis defect 5, is related to signet ring basal cell carcinoma and urachal adenocarcinoma. An important gene associated with Bile Acid Synthesis Defect, Congenital, 5 is ABCD3 (ATP Binding Cassette Subfamily D Member 3), and among its related pathways/superpathways is Cell surface interactions at the vascular wall. Affiliated tissues include liver, and related phenotypes are splenomegaly and hepatomegaly UniProtKB/Swiss-Prot : 73 Congenital bile acid synthesis defect 5: An autosomal recessive disorder characterized by hepatosplenomegaly, hepatic fibrosis, progressive liver failure, and accumulation of peroxisomal C27-bile acid intermediates in plasma. |
Human phenotypes related to Bile Acid Synthesis Defect, Congenital, 5:31 (show all 7)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:616278 |
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MalaCards organs/tissues related to Bile Acid Synthesis Defect, Congenital, 5:40
Liver
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Articles related to Bile Acid Synthesis Defect, Congenital, 5:
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Genes related to Bile Acid Synthesis Defect, Congenital, 5 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Bile Acid Synthesis Defect, Congenital, 5:6
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Search
GEO
for disease gene expression data for Bile Acid Synthesis Defect, Congenital, 5.
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Biological processes related to Bile Acid Synthesis Defect, Congenital, 5 according to GeneCards Suite gene sharing:
Molecular functions related to Bile Acid Synthesis Defect, Congenital, 5 according to GeneCards Suite gene sharing:
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