Bile Acid Synthesis Defect, Congenital, 5 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Bile Acid Synthesis Defect, Congenital, 5

MalaCards integrated aliases for Bile Acid Synthesis Defect, Congenital, 5:

Name: Bile Acid Synthesis Defect, Congenital, 5 ⁵⁷ ²⁹ ⁶

Cbas5 ⁵⁷ ¹² ⁷⁵

Congenital Bile Acid Synthesis Defect 5 ¹² ⁷⁵

Bile Acid Synthesis Defect, Congenital, Type 5 ⁴⁰

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
progressive disorder
one patient has been reported (last curated march 2015)

HPO:

³²

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 616278

Disease Ontology ¹² DOID:0111066

MedGen ⁴² C4225390 CN228775

MeSH ⁴⁴ D008107

SNOMED-CT via HPO ⁶⁹ 258211005 18165001 62484002 more

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Summaries for Bile Acid Synthesis Defect, Congenital, 5

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, 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 : ⁷⁵ 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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Related Diseases for Bile Acid Synthesis Defect, Congenital, 5

Diseases in the Congenital Bile Acid Synthesis Defect family:

Bile Acid Synthesis Defect, Congenital, 4	Bile Acid Synthesis Defect, Congenital, 2
Bile Acid Synthesis Defect, Congenital, 1	Bile Acid Synthesis Defect, Congenital, 3
Bile Acid Synthesis Defect, Congenital, 5	Bile Acid Synthesis Defect, Congenital, 6

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Symptoms & Phenotypes for Bile Acid Synthesis Defect, Congenital, 5

Symptoms via clinical synopsis from OMIM:

⁵⁷

Abdomen Spleen:
splenomegaly

Skin Nails Hair Skin:
jaundice

Laboratory Abnormalities:
abnormal liver enzymes
increased plasma bile acid intermediates (dhca and thca)
increased plasma very long-chain fatty acids
increased pristanic acid in fibroblasts
fibroblasts show reduced numbers of enlarged peroxisomes

Abdomen Liver:
hepatomegaly
liver failure
fibrosis

Hematology:
iron-deficiency anemia
coagulation defects secondary to liver failure

Clinical features from OMIM:

616278

Human phenotypes related to Bile Acid Synthesis Defect, Congenital, 5:

³² (show all 7)

#	Description	HPO Source Accession
1	splenomegaly ³²	HP:0001744
2	hepatomegaly ³²	HP:0002240
3	hepatic fibrosis ³²	HP:0001395
4	jaundice ³²	HP:0000952
5	iron deficiency anemia ³²	HP:0001891
6	hepatic failure ³²	HP:0001399
7	elevated hepatic transaminase ³²	HP:0002910

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Drugs & Therapeutics for Bile Acid Synthesis Defect, Congenital, 5

Search Clinical Trials , NIH Clinical Center for Bile Acid Synthesis Defect, Congenital, 5

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Genetic Tests for Bile Acid Synthesis Defect, Congenital, 5

Genetic tests related to Bile Acid Synthesis Defect, Congenital, 5:

#	Genetic test	Affiliating Genes
1	Bile Acid Synthesis Defect, Congenital, 5 ²⁹	ABCD3

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Anatomical Context for Bile Acid Synthesis Defect, Congenital, 5

MalaCards organs/tissues related to Bile Acid Synthesis Defect, Congenital, 5:

⁴¹

Liver

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Publications for Bile Acid Synthesis Defect, Congenital, 5

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Genes for Bile Acid Synthesis Defect, Congenital, 5

Genes related to Bile Acid Synthesis Defect, Congenital, 5 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ABCD3	ATP Binding Cassette Subfamily D Member 3	Protein Coding	1050	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ Unconfirmed association ⁵⁷	25168382

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Variations for Bile Acid Synthesis Defect, Congenital, 5

ClinVar genetic disease variations for Bile Acid Synthesis Defect, Congenital, 5:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	ABCD3	NM_002858.3(ABCD3): c.1903-573_*1108del	deletion	Pathogenic		GRCh38	Chromosome 1, 94516479: 94518237
2	ABCD3	NM_002858.3(ABCD3): c.1903-573_*1108del	deletion	Pathogenic		GRCh37	Chromosome 1, 94982035: 94983793

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Expression for Bile Acid Synthesis Defect, Congenital, 5

Search GEO for disease gene expression data for Bile Acid Synthesis Defect, Congenital, 5.

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Pathways for Bile Acid Synthesis Defect, Congenital, 5

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GO Terms for Bile Acid Synthesis Defect, Congenital, 5

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Sources for Bile Acid Synthesis Defect, Congenital, 5

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⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Bile Acid Synthesis Defect, Congenital, 5 (CBAS5)

Aliases & Classifications for Bile Acid Synthesis Defect, Congenital, 5

MalaCards integrated aliases for Bile Acid Synthesis Defect, Congenital, 5:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Bile Acid Synthesis Defect, Congenital, 5

Related Diseases for Bile Acid Synthesis Defect, Congenital, 5

Diseases in the Congenital Bile Acid Synthesis Defect family:

Symptoms & Phenotypes for Bile Acid Synthesis Defect, Congenital, 5

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Bile Acid Synthesis Defect, Congenital, 5:

Drugs & Therapeutics for Bile Acid Synthesis Defect, Congenital, 5

Genetic Tests for Bile Acid Synthesis Defect, Congenital, 5

Genetic tests related to Bile Acid Synthesis Defect, Congenital, 5:

Anatomical Context for Bile Acid Synthesis Defect, Congenital, 5

MalaCards organs/tissues related to Bile Acid Synthesis Defect, Congenital, 5:

Publications for Bile Acid Synthesis Defect, Congenital, 5

Genes for Bile Acid Synthesis Defect, Congenital, 5

Genes related to Bile Acid Synthesis Defect, Congenital, 5 (1 elite genes):

Variations for Bile Acid Synthesis Defect, Congenital, 5

ClinVar genetic disease variations for Bile Acid Synthesis Defect, Congenital, 5:

Expression for Bile Acid Synthesis Defect, Congenital, 5

Pathways for Bile Acid Synthesis Defect, Congenital, 5

GO Terms for Bile Acid Synthesis Defect, Congenital, 5

Sources for Bile Acid Synthesis Defect, Congenital, 5