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 ⁵⁷ ²⁹ ¹³ ⁶ ⁴⁰ ⁷³

Familial Hypercholanemia ⁵⁹ ⁷⁵ ³⁷

Fhca ⁵⁷ ⁷⁵

Hereditary Hypercholanemia ⁵⁹

Characteristics:

Orphanet epidemiological data:

⁵⁹

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

HPO:

³²

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: ⁵⁹

Rare hepatic diseases

Inborn errors of metabolism

External Ids:

OMIM ⁵⁷ 607748

Orphanet ⁵⁹ ORPHA238475

UMLS via Orphanet ⁷⁴ C1843139

MedGen ⁴² C1843139

MeSH ⁴⁴ D008286

KEGG ³⁷ H01935

SNOMED-CT via HPO ⁶⁹ 258211005 279333002 418290006 more

UMLS ⁷³ C1843139

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Summaries for Hypercholanemia, Familial

UniProtKB/Swiss-Prot : ⁷⁵ 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

Clinical features from OMIM:

607748

Human phenotypes related to Hypercholanemia, Familial:

³² (show all 6)

#	Description	HPO Source Accession
1	failure to thrive ³²	HP:0001508
2	rickets ³²	HP:0002748
3	pruritus ³²	HP:0000989
4	vitamin k deficiency ³²	HP:0011892
5	steatorrhea ³²	HP:0002570
6	increased serum bile acid concentration ³²	HP:0012202

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

²⁶

#	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 ²⁹	BAAT EPHX1 TJP2

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Anatomical Context for Hypercholanemia, Familial

MalaCards organs/tissues related to Hypercholanemia, Familial:

⁴¹

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 V.E.H....Bull L.N.	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 ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Variants (show sections)	12704386
2	TJP2	Tight Junction Protein 2	Protein Coding	1667.23	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Variants (show sections)	12704386
3	EPHX1	Epoxide Hydrolase 1	Protein Coding	1400	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ Unconfirmed association ⁵⁷	12878321

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Variations for Hypercholanemia, Familial

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

⁷⁵

#	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

#	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	EPHX1	NM_000120.3(EPHX1): c.823A> G (p.Thr275Ala)	single nucleotide variant	Uncertain significance	rs35073925	GRCh37	Chromosome 1, 226027630: 226027630
8	EPHX1	NM_000120.3(EPHX1): c.823A> G (p.Thr275Ala)	single nucleotide variant	Uncertain significance	rs35073925	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:

³⁷

#	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 ³⁷	10.47	BAAT EPHX1

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GO Terms for Hypercholanemia, Familial

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Sources for Hypercholanemia, Familial

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³⁷ KEGG

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⁵⁵ Novoseek

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⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

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⁶⁸ SNOMED-CT

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⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Hypercholanemia, Familial (FHCA)

Aliases & Classifications for Hypercholanemia, Familial

MalaCards integrated aliases for Hypercholanemia, Familial:

Characteristics:

Orphanet epidemiological data:

HPO:

Classifications:

External Ids:

Summaries for Hypercholanemia, Familial

Related Diseases for Hypercholanemia, Familial

Symptoms & Phenotypes for Hypercholanemia, Familial

Clinical features from OMIM:

Human phenotypes related to Hypercholanemia, Familial:

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