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CBAS5
MCID: BLC016
MIFTS: 21
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Bile Acid Synthesis Defect, Congenital, 5 (CBAS5)
Categories:
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:58
Inheritance:
autosomal recessive
Miscellaneous:
onset in infancy progressive disorder one patient has been reported (last curated march 2015) HPO:33
bile acid synthesis defect, congenital, 5:
Onset and clinical course infantile onset progressive Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases Anatomical: Neuronal diseases Liver diseases Nephrological diseases Gastrointestinal diseases Oral diseases |
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Disease Ontology
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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, is also known as cbas5. An important gene associated with Bile Acid Synthesis Defect, Congenital, 5 is ABCD3 (ATP Binding Cassette Subfamily D Member 3). Affiliated tissues include liver, and related phenotypes are splenomegaly and hepatomegaly UniProtKB/Swiss-Prot : 76 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.
Description from OMIM:
616278
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Diseases in the Congenital Bile Acid Synthesis Defect family: |
Human phenotypes related to Bile Acid Synthesis Defect, Congenital, 5:33 (show all 7)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:616278 |
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MalaCards organs/tissues related to Bile Acid Synthesis Defect, Congenital, 5:42
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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