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

Sources

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 ⁵⁶ ²⁹ ⁶

Cbas5 ⁵⁶ ¹² ⁷³

Congenital Bile Acid Synthesis Defect 5 ¹² ⁷³

Bile Acid Synthesis Defect, Congenital, Type 5 ³⁹

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: Neuronal diseases Liver diseases Gastrointestinal diseases Nephrological diseases Oral diseases Blood diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0111066

OMIM ⁵⁶ 616278

OMIM Phenotypic Series ⁵⁶ PS607765

MeSH ⁴³ D008107

MedGen ⁴¹ C4225390 CN228775

SNOMED-CT via HPO ⁶⁸ 16294009 166603001 166643006 more

Sources

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 : 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.

More information from OMIM: 616278 PS607765

Sources

Related Diseases for Bile Acid Synthesis Defect, Congenital, 5

Diseases in the Disorder of Bile Acid Synthesis 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
Congenital Bile Acid Synthesis Defect

Sources

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

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

³¹ (show all 7)

#	Description	HPO Source Accession
1	splenomegaly ³¹	HP:0001744
2	hepatomegaly ³¹	HP:0002240
3	elevated hepatic transaminase ³¹	HP:0002910
4	hepatic fibrosis ³¹	HP:0001395
5	jaundice ³¹	HP:0000952
6	hepatic failure ³¹	HP:0001399
7	iron deficiency anemia ³¹	HP:0001891

Symptoms via clinical synopsis from OMIM:

⁵⁶

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
fibrosis
liver failure

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

Clinical features from OMIM:

616278

Sources

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

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

Sources

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

Sources

Anatomical Context for Bile Acid Synthesis Defect, Congenital, 5

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

⁴⁰

Liver

Sources

Publications for Bile Acid Synthesis Defect, Congenital, 5

Articles related to Bile Acid Synthesis Defect, Congenital, 5:

#	Title	Authors	PMID	Year
1	A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3. ⁵⁶ ⁶	Ferdinandusse S...Valle D	25168382	2015

Sources

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	1058.2	Molecular basis known ⁵⁶ Pathogenic ⁶ Genetic Tests ²⁹ Unconfirmed association ⁵⁶ GeneCards inferred via : Variants (show sections)	25168382

Sources

Variations for Bile Acid Synthesis Defect, Congenital, 5

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

⁶ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	ABCD3	NM_002858.4(ABCD3):c.1903-573_*1108del	deletion	Pathogenic	187846		1:94982035-94983793	1:94516479-94518237

Sources

Expression for Bile Acid Synthesis Defect, Congenital, 5

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

Sources

Pathways for Bile Acid Synthesis Defect, Congenital, 5

Sources

GO Terms for Bile Acid Synthesis Defect, Congenital, 5

Sources

Sources for Bile Acid Synthesis Defect, Congenital, 5

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ 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 Disorder of Bile Acid Synthesis family:

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

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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

Articles related to 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