Hypercholanemia, Familial disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Hypercholanemia, Familial

MalaCards integrated aliases for Hypercholanemia, Familial:

Name: Hypercholanemia, Familial ⁵⁸ ³⁰ ¹³ ⁶ ⁴¹ ⁷⁴

Familial Hypercholanemia ⁶⁰ ⁷⁶ ³⁸

Fhca ⁵⁸ ⁷⁶

Hereditary Hypercholanemia ⁶⁰

Characteristics:

Orphanet epidemiological data:

⁶⁰

familial hypercholanemia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

⁵⁸

Inheritance:
autosomal recessive

Miscellaneous:
based on report of 1 patient

HPO:

³³

hypercholanemia, familial:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases
Anatomical: Liver diseases

See all MalaCards categories (disease lists)

Orphanet: ⁶⁰

Rare hepatic diseases

Inborn errors of metabolism

External Ids:

OMIM ⁵⁸ 607748

KEGG ³⁸ H01935

MeSH ⁴⁵ D008286

UMLS via Orphanet ⁷⁵ C1843139

Orphanet ⁶⁰ ORPHA238475

MedGen ⁴³ C1843139

SNOMED-CT via HPO ⁷⁰ 165509000 258211005 27868004 more

UMLS ⁷⁴ C1843139

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Summaries for Hypercholanemia, Familial

UniProtKB/Swiss-Prot : ⁷⁶ Familial hypercholanemia: A disorder characterized by elevated serum bile acid concentrations, itching, and fat malabsorption.

MalaCards based summary : Hypercholanemia, Familial, is also known as familial hypercholanemia. An important gene associated with Hypercholanemia, Familial is BAAT (Bile Acid-CoA:Amino Acid N-Acyltransferase), and among its related pathways/superpathways is Bile secretion. Affiliated tissues include liver, and related phenotypes are failure to thrive and rickets

Description from OMIM: 607748

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Related Diseases for Hypercholanemia, Familial

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Symptoms & Phenotypes for Hypercholanemia, Familial

Human phenotypes related to Hypercholanemia, Familial:

³³ (show all 6)

#	Description	HPO Source Accession
1	failure to thrive ³³	HP:0001508
2	rickets ³³	HP:0002748
3	pruritus ³³	HP:0000989
4	vitamin k deficiency ³³	HP:0011892
5	steatorrhea ³³	HP:0002570
6	increased serum bile acid concentration ³³	HP:0012202

Symptoms via clinical synopsis from OMIM:

⁵⁸

Abdomen Liver:
hypercholanemia

Laboratory Abnormalities:
elevated serum bile acids (hypercholanemia)

Clinical features from OMIM:

607748

GenomeRNAi Phenotypes related to Hypercholanemia, Familial according to GeneCards Suite gene sharing:

²⁷

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased Hepatitis C virus replication	GR00180-A-1	8.8	BAAT TJP2
2	Decreased Hepatitis C virus replication	GR00180-A-2	8.8	BAAT

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Drugs & Therapeutics for Hypercholanemia, Familial

Search Clinical Trials , NIH Clinical Center for Hypercholanemia, Familial

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Genetic Tests for Hypercholanemia, Familial

Genetic tests related to Hypercholanemia, Familial:

#	Genetic test	Affiliating Genes
1	Hypercholanemia, Familial ³⁰	BAAT EPHX1 TJP2

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Anatomical Context for Hypercholanemia, Familial

MalaCards organs/tissues related to Hypercholanemia, Familial:

⁴²

Liver

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Publications for Hypercholanemia, Familial

Articles related to Hypercholanemia, Familial:

#	Title	Authors	Year
1	Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. ( 12704386 )	Carlton VE...Bull LN	2003
2	Inhibition of human m-epoxide hydrolase gene expression in a case of hypercholanemia. ( 12878321 )	Zhu QS...Levy D	2003

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Genes for Hypercholanemia, Familial

Genes related to Hypercholanemia, Familial (3 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	BAAT	Bile Acid-CoA:Amino Acid N-Acyltransferase	Protein Coding	1667.23	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Variants (show sections)	12704386
2	TJP2	Tight Junction Protein 2	Protein Coding	1667.23	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Variants (show sections)	12704386
3	EPHX1	Epoxide Hydrolase 1	Protein Coding	1400	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Genetic Tests ³⁰ Unconfirmed association ⁵⁸	12878321

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Variations for Hypercholanemia, Familial

UniProtKB/Swiss-Prot genetic disease variations for Hypercholanemia, Familial:

⁷⁶

#	Symbol	AA change	Variation ID	SNP ID
1	BAAT	p.Met76Val	VAR_023737	rs28937579
2	TJP2	p.Val48Ala	VAR_016004	rs121918299

ClinVar genetic disease variations for Hypercholanemia, Familial:

⁶ (show all 12)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	TJP2	NM_004817.3(TJP2): c.143T> C (p.Val48Ala)	single nucleotide variant	Pathogenic	rs121918299	GRCh37	Chromosome 9, 71831283: 71831283
2	TJP2	NM_004817.3(TJP2): c.143T> C (p.Val48Ala)	single nucleotide variant	Pathogenic	rs121918299	GRCh38	Chromosome 9, 69216367: 69216367
3	BAAT	NM_001701.3(BAAT): c.226A> G (p.Met76Val)	single nucleotide variant	Pathogenic	rs28937579	GRCh37	Chromosome 9, 104133461: 104133461
4	BAAT	NM_001701.3(BAAT): c.226A> G (p.Met76Val)	single nucleotide variant	Pathogenic	rs28937579	GRCh38	Chromosome 9, 101371179: 101371179
5	EPHX1	EPHX1, -4238T-A	single nucleotide variant	Pathogenic
6	EPHX1	EPHX1, 2557C-G	single nucleotide variant	Pathogenic
7	TJP2	NM_004817.4(TJP2): c.1258C> T (p.Arg420Cys)	single nucleotide variant	Uncertain significance	rs199761505	GRCh38	Chromosome 9, 69227812: 69227812
8	TJP2	NM_004817.4(TJP2): c.1258C> T (p.Arg420Cys)	single nucleotide variant	Uncertain significance	rs199761505	GRCh37	Chromosome 9, 71842728: 71842728
9	TJP2	NM_004817.4(TJP2): c.1056+2T> C	single nucleotide variant	Likely pathogenic	rs1278244243	GRCh37	Chromosome 9, 71840325: 71840325
10	TJP2	NM_004817.4(TJP2): c.1056+2T> C	single nucleotide variant	Likely pathogenic	rs1278244243	GRCh38	Chromosome 9, 69225409: 69225409
11	EPHX1	NM_000120.3(EPHX1): c.823A> G (p.Thr275Ala)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 1, 226027630: 226027630
12	EPHX1	NM_000120.3(EPHX1): c.823A> G (p.Thr275Ala)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 1, 225839929: 225839929

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Expression for Hypercholanemia, Familial

Search GEO for disease gene expression data for Hypercholanemia, Familial.

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Pathways for Hypercholanemia, Familial

Pathways related to Hypercholanemia, Familial according to KEGG:

³⁸

#	Name	Kegg Source Accession
1	Bile secretion	hsa04976

Pathways related to Hypercholanemia, Familial according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Bile secretion ³⁸	10.48	BAAT EPHX1

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GO Terms for Hypercholanemia, Familial

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⁷² TGDB

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⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Hypercholanemia, Familial (FHCA)

Aliases & Classifications for Hypercholanemia, Familial

MalaCards integrated aliases for Hypercholanemia, Familial:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Hypercholanemia, Familial

Related Diseases for Hypercholanemia, Familial

Symptoms & Phenotypes for Hypercholanemia, Familial

Human phenotypes related to Hypercholanemia, Familial:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

GenomeRNAi Phenotypes related to Hypercholanemia, Familial according to GeneCards Suite gene sharing:

Drugs & Therapeutics for Hypercholanemia, Familial

Genetic Tests for Hypercholanemia, Familial

Genetic tests related to Hypercholanemia, Familial:

Anatomical Context for Hypercholanemia, Familial

MalaCards organs/tissues related to Hypercholanemia, Familial:

Publications for Hypercholanemia, Familial

Articles related to Hypercholanemia, Familial:

Genes for Hypercholanemia, Familial

Genes related to Hypercholanemia, Familial (3 elite genes):

Variations for Hypercholanemia, Familial

UniProtKB/Swiss-Prot genetic disease variations for Hypercholanemia, Familial:

ClinVar genetic disease variations for Hypercholanemia, Familial:

Expression for Hypercholanemia, Familial

Pathways for Hypercholanemia, Familial

Pathways related to Hypercholanemia, Familial according to KEGG:

Pathways related to Hypercholanemia, Familial according to GeneCards Suite gene sharing:

GO Terms for Hypercholanemia, Familial

Sources for Hypercholanemia, Familial