FHCA
MCID: HYP279
MIFTS: 31

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 57 29 13 6 39 71
Familial Hypercholanemia 58 73 36
Fhca 57 73
Hereditary Hypercholanemia 58

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Mar-2021)
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® 57 607748
KEGG 36 H01935
MeSH 44 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 cystic fibrosis and atp8b1 deficiency. An important gene associated with Hypercholanemia, Familial is TJP2 (Tight Junction Protein 2), 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 cystic fibrosis 10.0
2 atp8b1 deficiency 10.0
3 cholestasis, progressive familial intrahepatic, 4 9.4 TJP2 BAAT

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 steatorrhea 31 HP:0002570
4 pruritus 31 HP:0000989
5 low levels of vitamin k 31 HP:0011892
6 increased serum bile acid concentration 31 HP:0012202

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Abdomen Liver:
hypercholanemia

Laboratory Abnormalities:
elevated serum bile acids (hypercholanemia)

Clinical features from OMIM®:

607748 (Updated 05-Mar-2021)

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. 57 6
12878321 2003
2
Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. 6 57
12704386 2003
3
Abnormal hepatic sinusoidal bile acid transport in an Amish kindred is not linked to FIC1 and is improved by ursodiol. 57
10889168 2000
4
Hepatic basolateral sodium-dependent-bile acid transporter expression in two unusual cases of hypercholanemia and in extrahepatic biliary atresia. 57
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 90)
# 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-A SNV Pathogenic 16606
4 EPHX1 EPHX1, 2557C-G SNV Pathogenic 16607
5 TJP2 NM_004817.4(TJP2):c.1056+2T>C SNV Likely pathogenic 489223 rs1278244243 9:71840325-71840325 9:69225409-69225409
6 TJP2 NM_004817.4(TJP2):c.3371C>T (p.Thr1124Met) SNV Likely pathogenic 367235 rs376663560 9:71867780-71867780 9:69252864-69252864
7 TJP2 NM_004817.4(TJP2):c.185C>T (p.Thr62Met) SNV Likely pathogenic 165403 rs138241615 9:71831325-71831325 9:69216409-69216409
8 TJP2 NM_004817.4(TJP2):c.1258C>T (p.Arg420Cys) SNV Uncertain significance 178543 rs199761505 9:71842728-71842728 9:69227812-69227812
9 BAAT NM_001701.4(BAAT):c.*95C>T SNV Uncertain significance 913862 9:104124615-104124615 9:101362333-101362333
10 BAAT NM_001701.4(BAAT):c.761C>T (p.Thr254Met) SNV Uncertain significance 191236 rs768526453 9:104125206-104125206 9:101362924-101362924
11 EPHX1 NM_000120.4(EPHX1):c.823A>G (p.Thr275Ala) SNV Uncertain significance 561152 rs35073925 1:226027630-226027630 1:225839929-225839929
12 BAAT NM_001701.4(BAAT):c.1186G>T (p.Glu396Ter) SNV Uncertain significance 632531 rs371796700 9:104124781-104124781 9:101362499-101362499
13 BAAT NM_001701.4(BAAT):c.*1139T>G SNV Uncertain significance 364260 rs188189145 9:104123571-104123571 9:101361289-101361289
14 BAAT NM_001701.4(BAAT):c.473G>T (p.Gly158Val) SNV Uncertain significance 364279 rs746409843 9:104130598-104130598 9:101368316-101368316
15 BAAT NM_001701.4(BAAT):c.264A>G (p.Leu88=) SNV Uncertain significance 364281 rs886063284 9:104133423-104133423 9:101371141-101371141
16 BAAT NM_001701.4(BAAT):c.-59-14C>A SNV Uncertain significance 364283 rs777417694 9:104133759-104133759 9:101371477-101371477
17 BAAT NM_001701.4(BAAT):c.*1575T>G SNV Uncertain significance 364252 rs886063281 9:104123135-104123135 9:101360853-101360853
18 BAAT NM_001701.4(BAAT):c.*1136A>G SNV Uncertain significance 364261 rs886063282 9:104123574-104123574 9:101361292-101361292
19 BAAT NM_001701.4(BAAT):c.178C>T (p.Leu60=) SNV Uncertain significance 364282 rs374248798 9:104133509-104133509 9:101371227-101371227
20 BAAT NM_001701.4(BAAT):c.*1030T>A SNV Uncertain significance 364264 rs543786788 9:104123680-104123680 9:101361398-101361398
21 BAAT NM_001701.4(BAAT):c.-209C>T SNV Uncertain significance 364287 rs565859257 9:104147286-104147286 9:101385004-101385004
22 BAAT NM_001701.4(BAAT):c.*199A>T SNV Uncertain significance 364273 rs151035029 9:104124511-104124511 9:101362229-101362229
23 BAAT NM_001701.4(BAAT):c.780C>T (p.Thr260=) SNV Uncertain significance 364278 rs886063283 9:104125187-104125187 9:101362905-101362905
24 BAAT NM_001701.4(BAAT):c.-208C>T SNV Uncertain significance 364286 rs886063286 9:104147285-104147285 9:101385003-101385003
25 BAAT NM_001701.4(BAAT):c.*1890C>A SNV Uncertain significance 364247 rs886063280 9:104122820-104122820 9:101360538-101360538
26 BAAT NM_001701.4(BAAT):c.1135G>A (p.Asp379Asn) SNV Uncertain significance 364276 rs765307307 9:104124832-104124832 9:101362550-101362550
27 BAAT NM_001701.4(BAAT):c.*1218A>G SNV Uncertain significance 364256 rs550241219 9:104123492-104123492 9:101361210-101361210
28 BAAT NM_001701.4(BAAT):c.-183T>A SNV Uncertain significance 364285 rs886063285 9:104147260-104147260 9:101384978-101384978
29 BAAT NM_001701.4(BAAT):c.*1864G>T SNV Uncertain significance 912310 9:104122846-104122846 9:101360564-101360564
30 BAAT NM_001701.4(BAAT):c.*1828C>T SNV Uncertain significance 912311 9:104122882-104122882 9:101360600-101360600
31 BAAT NM_001701.4(BAAT):c.*1712G>C SNV Uncertain significance 912312 9:104122998-104122998 9:101360716-101360716
32 BAAT NM_001701.4(BAAT):c.*831A>G SNV Uncertain significance 912350 9:104123879-104123879 9:101361597-101361597
33 BAAT NM_001701.4(BAAT):c.*668A>G SNV Uncertain significance 912351 9:104124042-104124042 9:101361760-101361760
34 BAAT NM_001701.4(BAAT):c.*660G>T SNV Uncertain significance 912352 9:104124050-104124050 9:101361768-101361768
35 BAAT NM_001701.4(BAAT):c.*573G>T SNV Uncertain significance 912354 9:104124137-104124137 9:101361855-101361855
36 BAAT NM_001701.4(BAAT):c.390G>T (p.Arg130Ser) SNV Uncertain significance 912408 9:104133297-104133297 9:101371015-101371015
37 BAAT NM_001701.4(BAAT):c.147C>T (p.His49=) SNV Uncertain significance 912409 9:104133540-104133540 9:101371258-101371258
38 BAAT NM_001701.4(BAAT):c.126C>A (p.Asp42Glu) SNV Uncertain significance 912410 9:104133561-104133561 9:101371279-101371279
39 BAAT NM_001701.4(BAAT):c.*1597C>A SNV Uncertain significance 913431 9:104123113-104123113 9:101360831-101360831
40 BAAT NM_001701.4(BAAT):c.*1557C>A SNV Uncertain significance 913432 9:104123153-104123153 9:101360871-101360871
41 BAAT NM_001701.4(BAAT):c.*1528C>A SNV Uncertain significance 913433 9:104123182-104123182 9:101360900-101360900
42 BAAT NM_001701.4(BAAT):c.*1422A>G SNV Uncertain significance 913434 9:104123288-104123288 9:101361006-101361006
43 BAAT NM_001701.4(BAAT):c.*538T>C SNV Uncertain significance 913483 9:104124172-104124172 9:101361890-101361890
44 BAAT NM_001701.4(BAAT):c.*426A>G SNV Uncertain significance 913484 9:104124284-104124284 9:101362002-101362002
45 BAAT NM_001701.4(BAAT):c.*365T>C SNV Uncertain significance 913485 9:104124345-104124345 9:101362063-101362063
46 BAAT NM_001701.4(BAAT):c.*224A>T SNV Uncertain significance 913487 9:104124486-104124486 9:101362204-101362204
47 BAAT NM_001701.4(BAAT):c.22C>G (p.Pro8Ala) SNV Uncertain significance 913526 9:104133665-104133665 9:101371383-101371383
48 BAAT NM_001701.4(BAAT):c.17C>T (p.Ala6Val) SNV Uncertain significance 913527 9:104133670-104133670 9:101371388-101371388
49 BAAT NM_001701.4(BAAT):c.-92C>T SNV Uncertain significance 913528 9:104147169-104147169 9:101384887-101384887
50 BAAT NM_001701.4(BAAT):c.-176C>T SNV Uncertain significance 913529 9:104147253-104147253 9:101384971-101384971

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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