FHCA
MCID: HYP279
MIFTS: 30

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 56 29 13 6 39 71
Familial Hypercholanemia 58 73 36
Fhca 56 73
Hereditary Hypercholanemia 58

Characteristics:

Orphanet epidemiological data:

58
familial hypercholanemia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 1 patient


HPO:

31
hypercholanemia, familial:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare hepatic diseases
Inborn errors of metabolism


External Ids:

OMIM 56 607748
KEGG 36 H01935
MeSH 43 D008286
UMLS via Orphanet 72 C1843139
Orphanet 58 ORPHA238475
MedGen 41 C1843139
UMLS 71 C1843139

Summaries for Hypercholanemia, Familial

KEGG : 36 Familial hypercholanemia is characterized by elevated serum bile acid concentrations, itching, and fat malabsorption. Mutations in EPHX1, TJP2, and BAAT may disrupt bile acid transport and circulation.

MalaCards based summary : Hypercholanemia, Familial, also known as familial hypercholanemia, is related to atp8b1 deficiency. 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 breast, and related phenotypes are failure to thrive and rickets

UniProtKB/Swiss-Prot : 73 Familial hypercholanemia: A disorder characterized by elevated serum bile acid concentrations, itching, and fat malabsorption.

More information from OMIM: 607748

Related Diseases for Hypercholanemia, Familial

Diseases related to Hypercholanemia, Familial via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 atp8b1 deficiency 10.1

Symptoms & Phenotypes for Hypercholanemia, Familial

Human phenotypes related to Hypercholanemia, Familial:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 rickets 31 HP:0002748
3 pruritus 31 HP:0000989
4 steatorrhea 31 HP:0002570
5 low levels of vitamin k 31 HP:0011892
6 increased serum bile acid concentration 31 HP:0012202

Symptoms via clinical synopsis from OMIM:

56
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:

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:

40
Liver, Breast

Publications for Hypercholanemia, Familial

Articles related to Hypercholanemia, Familial:

# Title Authors PMID Year
1
Inhibition of human m-epoxide hydrolase gene expression in a case of hypercholanemia. 6 56
12878321 2003
2
Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. 56 6
12704386 2003
3
Abnormal hepatic sinusoidal bile acid transport in an Amish kindred is not linked to FIC1 and is improved by ursodiol. 56
10889168 2000
4
Hepatic basolateral sodium-dependent-bile acid transporter expression in two unusual cases of hypercholanemia and in extrahepatic biliary atresia. 56
9141436 1997
5
Methylofuran is a prosthetic group of the formyltransferase/hydrolase complex and shuttles one-carbon units between two active sites. 61
31776258 2019
6
Association between Health Behaviors and a Family History of Cancer among Korean Women. 61
26511810 2016
7
Fetal placental inflammation is associated with poor neonatal growth of preterm infants: a case-control study. 61
23560517 2013
8
Induction of tumor cell death through targeting tubulin and evoking dysregulation of cell cycle regulatory proteins by multifunctional cinnamaldehydes. 61
23185555 2012
9
Generation of formate by the formyltransferase/hydrolase complex (Fhc) from Methylobacterium extorquens AM1. 61
12123819 2002
10
Serum steroid binding proteins and the bioavailability of estradiol in relation to breast diseases. 61
3863985 1985

Variations for Hypercholanemia, Familial

ClinVar genetic disease variations for Hypercholanemia, Familial:

6 (show top 50) (show all 88) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TJP2 NM_004817.4(TJP2):c.143T>C (p.Val48Ala)SNV Pathogenic 2907 rs121918299 9:71831283-71831283 9:69216367-69216367
2 BAAT NM_001701.4(BAAT):c.226A>G (p.Met76Val)SNV Pathogenic 6720 rs28937579 9:104133461-104133461 9:101371179-101371179
3 EPHX1 EPHX1, -4238T-ASNV Pathogenic 16606
4 EPHX1 EPHX1, 2557C-GSNV Pathogenic 16607
5 TJP2 NM_004817.4(TJP2):c.1056+2T>CSNV Likely pathogenic 489223 rs1278244243 9:71840325-71840325 9:69225409-69225409
6 EPHX1 NM_000120.4(EPHX1):c.823A>G (p.Thr275Ala)SNV Uncertain significance 561152 rs35073925 1:226027630-226027630 1:225839929-225839929
7 BAAT NM_001701.4(BAAT):c.1186G>T (p.Glu396Ter)SNV Uncertain significance 632531 rs371796700 9:104124781-104124781 9:101362499-101362499
8 BAAT NM_001701.4(BAAT):c.*1597C>ASNV Uncertain significance 913431 9:104123113-104123113 9:101360831-101360831
9 BAAT NM_001701.4(BAAT):c.*1864G>TSNV Uncertain significance 912310 9:104122846-104122846 9:101360564-101360564
10 BAAT NM_001701.4(BAAT):c.*1828C>TSNV Uncertain significance 912311 9:104122882-104122882 9:101360600-101360600
11 BAAT NM_001701.4(BAAT):c.*1712G>CSNV Uncertain significance 912312 9:104122998-104122998 9:101360716-101360716
12 BAAT NM_001701.4(BAAT):c.*1557C>ASNV Uncertain significance 913432 9:104123153-104123153 9:101360871-101360871
13 BAAT NM_001701.4(BAAT):c.*1528C>ASNV Uncertain significance 913433 9:104123182-104123182 9:101360900-101360900
14 BAAT NM_001701.4(BAAT):c.*1422A>GSNV Uncertain significance 913434 9:104123288-104123288 9:101361006-101361006
15 BAAT NM_001701.4(BAAT):c.*1341A>GSNV Uncertain significance 913811 9:104123369-104123369 9:101361087-101361087
16 BAAT NM_001701.4(BAAT):c.*1307T>ASNV Uncertain significance 913812 9:104123403-104123403 9:101361121-101361121
17 BAAT NM_001701.4(BAAT):c.*1130A>GSNV Uncertain significance 913813 9:104123580-104123580 9:101361298-101361298
18 BAAT NM_001701.4(BAAT):c.*1041A>GSNV Uncertain significance 915070 9:104123669-104123669 9:101361387-101361387
19 BAAT NM_001701.4(BAAT):c.*936T>CSNV Uncertain significance 915071 9:104123774-104123774 9:101361492-101361492
20 BAAT NM_001701.4(BAAT):c.*831A>GSNV Uncertain significance 912350 9:104123879-104123879 9:101361597-101361597
21 BAAT NM_001701.4(BAAT):c.*668A>GSNV Uncertain significance 912351 9:104124042-104124042 9:101361760-101361760
22 BAAT NM_001701.4(BAAT):c.*660G>TSNV Uncertain significance 912352 9:104124050-104124050 9:101361768-101361768
23 TJP2 NM_004817.4(TJP2):c.1258C>T (p.Arg420Cys)SNV Uncertain significance 178543 rs199761505 9:71842728-71842728 9:69227812-69227812
24 BAAT NM_001701.4(BAAT):c.761C>T (p.Thr254Met)SNV Uncertain significance 191236 rs768526453 9:104125206-104125206 9:101362924-101362924
25 BAAT NM_001701.4(BAAT):c.1039C>T (p.His347Tyr)SNV Uncertain significance 913864 9:104124928-104124928 9:101362646-101362646
26 BAAT NM_001701.4(BAAT):c.561C>T (p.Ala187=)SNV Uncertain significance 915107 9:104130510-104130510 9:101368228-101368228
27 BAAT NM_001701.4(BAAT):c.558C>T (p.Phe186=)SNV Uncertain significance 915108 9:104130513-104130513 9:101368231-101368231
28 BAAT NM_001701.4(BAAT):c.390G>T (p.Arg130Ser)SNV Uncertain significance 912408 9:104133297-104133297 9:101371015-101371015
29 BAAT NM_001701.4(BAAT):c.147C>T (p.His49=)SNV Uncertain significance 912409 9:104133540-104133540 9:101371258-101371258
30 BAAT NM_001701.4(BAAT):c.126C>A (p.Asp42Glu)SNV Uncertain significance 912410 9:104133561-104133561 9:101371279-101371279
31 BAAT NM_001701.4(BAAT):c.22C>G (p.Pro8Ala)SNV Uncertain significance 913526 9:104133665-104133665 9:101371383-101371383
32 BAAT NM_001701.4(BAAT):c.17C>T (p.Ala6Val)SNV Uncertain significance 913527 9:104133670-104133670 9:101371388-101371388
33 BAAT NM_001701.4(BAAT):c.-92C>TSNV Uncertain significance 913528 9:104147169-104147169 9:101384887-101384887
34 BAAT NM_001701.4(BAAT):c.-176C>TSNV Uncertain significance 913529 9:104147253-104147253 9:101384971-101384971
35 BAAT NM_001701.4(BAAT):c.*573G>TSNV Uncertain significance 912354 9:104124137-104124137 9:101361855-101361855
36 BAAT NM_001701.4(BAAT):c.*538T>CSNV Uncertain significance 913483 9:104124172-104124172 9:101361890-101361890
37 BAAT NM_001701.4(BAAT):c.*426A>GSNV Uncertain significance 913484 9:104124284-104124284 9:101362002-101362002
38 BAAT NM_001701.4(BAAT):c.*365T>CSNV Uncertain significance 913485 9:104124345-104124345 9:101362063-101362063
39 BAAT NM_001701.4(BAAT):c.*224A>TSNV Uncertain significance 913487 9:104124486-104124486 9:101362204-101362204
40 BAAT NM_001701.4(BAAT):c.*95C>TSNV Uncertain significance 913862 9:104124615-104124615 9:101362333-101362333
41 BAAT NM_001701.4(BAAT):c.*1139T>GSNV Uncertain significance 364260 rs188189145 9:104123571-104123571 9:101361289-101361289
42 BAAT NM_001701.4(BAAT):c.*1136A>GSNV Uncertain significance 364261 rs886063282 9:104123574-104123574 9:101361292-101361292
43 BAAT NM_001701.4(BAAT):c.-59-14C>ASNV Uncertain significance 364283 rs777417694 9:104133759-104133759 9:101371477-101371477
44 BAAT NM_001701.4(BAAT):c.-209C>TSNV Uncertain significance 364287 rs565859257 9:104147286-104147286 9:101385004-101385004
45 BAAT NM_001701.4(BAAT):c.*1890C>ASNV Uncertain significance 364247 rs886063280 9:104122820-104122820 9:101360538-101360538
46 BAAT NM_001701.4(BAAT):c.*1575T>GSNV Uncertain significance 364252 rs886063281 9:104123135-104123135 9:101360853-101360853
47 BAAT NM_001701.4(BAAT):c.*1030T>ASNV Uncertain significance 364264 rs543786788 9:104123680-104123680 9:101361398-101361398
48 BAAT NM_001701.4(BAAT):c.1135G>A (p.Asp379Asn)SNV Uncertain significance 364276 rs765307307 9:104124832-104124832 9:101362550-101362550
49 BAAT NM_001701.4(BAAT):c.780C>T (p.Thr260=)SNV Uncertain significance 364278 rs886063283 9:104125187-104125187 9:101362905-101362905
50 BAAT NM_001701.4(BAAT):c.*1218A>GSNV Uncertain significance 364256 rs550241219 9:104123492-104123492 9:101361210-101361210

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

73
# Symbol AA change Variation ID SNP ID
1 BAAT p.Met76Val VAR_023737 rs28937579
2 TJP2 p.Val48Ala VAR_016004 rs121918299

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:

36
# 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 10.58 EPHX1 BAAT

GO Terms for Hypercholanemia, Familial

Sources for Hypercholanemia, Familial

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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