FHCA
MCID: HYP279
MIFTS: 22

Hypercholanemia, Familial (FHCA)

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

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:



External Ids:

OMIM 58 607748
KEGG 38 H01935
MeSH 45 D008286
UMLS via Orphanet 75 C1843139
Orphanet 60 ORPHA238475
MedGen 43 C1843139
UMLS 74 C1843139

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

Related Diseases for Hypercholanemia, Familial

Symptoms & Phenotypes for Hypercholanemia, Familial

Human phenotypes related to Hypercholanemia, Familial:

33 (show all 6)
# Description HPO Frequency 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

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 30 BAAT EPHX1 TJP2

Anatomical Context for Hypercholanemia, Familial

MalaCards organs/tissues related to Hypercholanemia, Familial:

42
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:

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
# 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 GRCh37 Chromosome 1, 226027630: 226027630
8 EPHX1 NM_000120.3(EPHX1): c.823A> G (p.Thr275Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 225839929: 225839929

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:

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 10.48 BAAT EPHX1

GO Terms for Hypercholanemia, Familial

Sources for Hypercholanemia, Familial

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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