MCID: HYP279
MIFTS: 21

Hypercholanemia, Familial

Categories: Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases

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:



External Ids:

OMIM 57 607748
Orphanet 59 ORPHA238475
UMLS via Orphanet 74 C1843139
MedGen 42 C1843139
MeSH 44 D008286
KEGG 37 H01935
UMLS 73 C1843139

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 pruritus and failure to thrive

Description from OMIM: 607748

Related Diseases for Hypercholanemia, Familial

Symptoms & Phenotypes for Hypercholanemia, Familial

Clinical features from OMIM:

607748

Human phenotypes related to Hypercholanemia, Familial:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 pruritus 32 HP:0000989
2 failure to thrive 32 HP:0001508
3 steatorrhea 32 HP:0002570
4 rickets 32 HP:0002748
5 vitamin k deficiency 32 HP:0011892
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

Drugs & Therapeutics for Hypercholanemia, Familial

Search Clinical Trials , NIH Clinical Center for Hypercholanemia, Familial

Genetic Tests for Hypercholanemia, Familial

Genetic tests related to Hypercholanemia, Familial:

# Genetic test Affiliating Genes
1 Hypercholanemia, Familial 29 BAAT EPHX1 TJP2

Anatomical Context for Hypercholanemia, Familial

MalaCards organs/tissues related to Hypercholanemia, Familial:

41
Liver

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 )
2003

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

Expression for Hypercholanemia, Familial

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

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 10.47 BAAT EPHX1

GO Terms for Hypercholanemia, Familial

Sources for Hypercholanemia, Familial

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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