MCID: CHL143
MIFTS: 21

Cholestasis, Progressive Familial Intrahepatic, 4

Categories: Genetic diseases, Rare diseases, Liver diseases, Metabolic diseases, Reproductive diseases, Gastrointestinal diseases, Endocrine diseases

Aliases & Classifications for Cholestasis, Progressive Familial Intrahepatic, 4

MalaCards integrated aliases for Cholestasis, Progressive Familial Intrahepatic, 4:

Name: Cholestasis, Progressive Familial Intrahepatic, 4 57 75
Pfic4 57 53 59 75
Cholestasis, Progressive Familial Intrahepatic 4 57 53 73
Progressive Familial Intrahepatic Cholestasis 4 53 29 6
3-Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency 53
Cholestasis, Intrahepatic, Familial, Progressive, Type 4 40
Progressive Familial Intrahepatic Cholestasis Type 4 59
Bile Acid Synthesis Defect, Congenital, 1 73
Tjp2 Deficit 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood
progressive disorder
most patients require liver transplant in childhood


HPO:

32
cholestasis, progressive familial intrahepatic, 4:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:



Summaries for Cholestasis, Progressive Familial Intrahepatic, 4

UniProtKB/Swiss-Prot : 75 Cholestasis, progressive familial intrahepatic, 4: A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood.

MalaCards based summary : Cholestasis, Progressive Familial Intrahepatic, 4, also known as pfic4, is related to bile acid synthesis defect, congenital, 1, and has symptoms including diarrhea and icterus. An important gene associated with Cholestasis, Progressive Familial Intrahepatic, 4 is TJP2 (Tight Junction Protein 2). Affiliated tissues include liver, and related phenotypes are hepatic failure and hepatocellular carcinoma

Description from OMIM: 615878

Related Diseases for Cholestasis, Progressive Familial Intrahepatic, 4

Diseases in the Intrahepatic Cholestasis family:

Cholestasis, Progressive Familial Intrahepatic, 1 Cholestasis, Benign Recurrent Intrahepatic, 1
Cholestasis, Progressive Familial Intrahepatic, 2 Cholestasis, Progressive Familial Intrahepatic, 3
Cholestasis, Benign Recurrent Intrahepatic, 2 Cholestasis, Progressive Familial Intrahepatic, 4
Cholestasis, Progressive Familial Intrahepatic, 5 Myo5b-Related Progressive Familial Intrahepatic Cholestasis

Diseases related to Cholestasis, Progressive Familial Intrahepatic, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 bile acid synthesis defect, congenital, 1 11.3

Symptoms & Phenotypes for Cholestasis, Progressive Familial Intrahepatic, 4

Symptoms via clinical synopsis from OMIM:

57
Abdomen Liver:
intrahepatic cholestasis
liver failure
portal hypertension
elongated tight junctions between adjacent hepatocytes and biliary canaliculi seen on biopsy

Laboratory Abnormalities:
normal or mildly increased serum gamma-glutamyltransferase (ggt)

Neoplasia:
hepatocellular carcinoma, childhood onset (reported in 2 patients)


Clinical features from OMIM:

615878

Human phenotypes related to Cholestasis, Progressive Familial Intrahepatic, 4:

32
# Description HPO Frequency HPO Source Accession
1 hepatic failure 32 HP:0001399
2 hepatocellular carcinoma 32 HP:0001402
3 intrahepatic cholestasis 32 HP:0001406
4 portal hypertension 32 HP:0001409

UMLS symptoms related to Cholestasis, Progressive Familial Intrahepatic, 4:


diarrhea, icterus

Drugs & Therapeutics for Cholestasis, Progressive Familial Intrahepatic, 4

Search Clinical Trials , NIH Clinical Center for Cholestasis, Progressive Familial Intrahepatic, 4

Genetic Tests for Cholestasis, Progressive Familial Intrahepatic, 4

Genetic tests related to Cholestasis, Progressive Familial Intrahepatic, 4:

# Genetic test Affiliating Genes
1 Progressive Familial Intrahepatic Cholestasis 4 29 TJP2

Anatomical Context for Cholestasis, Progressive Familial Intrahepatic, 4

MalaCards organs/tissues related to Cholestasis, Progressive Familial Intrahepatic, 4:

41
Liver

Publications for Cholestasis, Progressive Familial Intrahepatic, 4

Variations for Cholestasis, Progressive Familial Intrahepatic, 4

ClinVar genetic disease variations for Cholestasis, Progressive Familial Intrahepatic, 4:

6
(show all 31)
# Gene Variation Type Significance SNP ID Assembly Location
1 TJP2 NM_004817.3(TJP2): c.766_769delGCCT (p.Ala256Thrfs) deletion Pathogenic rs587777518 GRCh37 Chromosome 9, 71836226: 71836229
2 TJP2 NM_004817.3(TJP2): c.766_769delGCCT (p.Ala256Thrfs) deletion Pathogenic rs587777518 GRCh38 Chromosome 9, 69221310: 69221313
3 TJP2 NM_004817.3(TJP2): c.885delC (p.Ser296Alafs) deletion Pathogenic rs587777519 GRCh37 Chromosome 9, 71836345: 71836345
4 TJP2 NM_004817.3(TJP2): c.885delC (p.Ser296Alafs) deletion Pathogenic rs587777519 GRCh38 Chromosome 9, 69221429: 69221429
5 TJP2 NM_004817.3(TJP2): c.1361delC (p.Ala454Glyfs) deletion Pathogenic rs587777520 GRCh37 Chromosome 9, 71842938: 71842938
6 TJP2 NM_004817.3(TJP2): c.1361delC (p.Ala454Glyfs) deletion Pathogenic rs587777520 GRCh38 Chromosome 9, 69228022: 69228022
7 TJP2 NM_004817.3(TJP2): c.1992-2A> G single nucleotide variant Pathogenic rs587777521 GRCh37 Chromosome 9, 71851863: 71851863
8 TJP2 NM_004817.3(TJP2): c.1992-2A> G single nucleotide variant Pathogenic rs587777521 GRCh38 Chromosome 9, 69236947: 69236947
9 TJP2 NM_004817.3(TJP2): c.3408_3573del166 (p.Ser1136Argfs) deletion Pathogenic GRCh37 Chromosome 9, 71869125: 71869290
10 TJP2 NM_004817.3(TJP2): c.3408_3573del166 (p.Ser1136Argfs) deletion Pathogenic GRCh38 Chromosome 9, 69254209: 69254374
11 TJP2 NM_004817.3(TJP2): c.2668-1G> T single nucleotide variant Pathogenic rs864321695 GRCh37 Chromosome 9, 71862927: 71862927
12 TJP2 NM_004817.3(TJP2): c.2668-1G> T single nucleotide variant Pathogenic rs864321695 GRCh38 Chromosome 9, 69248011: 69248011
13 TJP2 NM_004817.3(TJP2): c.2438dupT (p.Asn814Glnfs) duplication Pathogenic rs864321696 GRCh37 Chromosome 9, 71854935: 71854935
14 TJP2 NM_004817.3(TJP2): c.2438dupT (p.Asn814Glnfs) duplication Pathogenic rs864321696 GRCh38 Chromosome 9, 69240019: 69240019
15 TJP2 NM_004817.3(TJP2): c.817delG (p.Ala273Profs) deletion Pathogenic rs864321697 GRCh37 Chromosome 9, 71836277: 71836277
16 TJP2 NM_004817.3(TJP2): c.817delG (p.Ala273Profs) deletion Pathogenic rs864321697 GRCh38 Chromosome 9, 69221361: 69221361
17 TJP2 NM_004817.3(TJP2): c.1697T> A (p.Leu566Ter) single nucleotide variant Pathogenic rs886042381 GRCh37 Chromosome 9, 71849380: 71849380
18 TJP2 NM_004817.3(TJP2): c.1697T> A (p.Leu566Ter) single nucleotide variant Pathogenic rs886042381 GRCh38 Chromosome 9, 69234464: 69234464
19 TJP2 NM_004817.3(TJP2): c.498dupG (p.Arg167Alafs) duplication Pathogenic rs886044313 GRCh37 Chromosome 9, 71835958: 71835958
20 TJP2 NM_004817.3(TJP2): c.498dupG (p.Arg167Alafs) duplication Pathogenic rs886044313 GRCh38 Chromosome 9, 69221042: 69221042
21 TJP2 NM_004817.3(TJP2): c.1243delT (p.Ser415Leufs) deletion Pathogenic rs1057518679 GRCh37 Chromosome 9, 71842713: 71842713
22 TJP2 NM_004817.3(TJP2): c.1243delT (p.Ser415Leufs) deletion Pathogenic rs1057518679 GRCh38 Chromosome 9, 69227797: 69227797
23 TJP2 NG_016342.1: g.(102053_104579)_(123841_130382)dup duplication Pathogenic GRCh38 Chromosome 9, 69218360: 69246689
24 TJP2 NG_016342.1: g.(102053_104579)_(123841_130382)dup duplication Pathogenic GRCh37 Chromosome 9, 71833276: 71861605
25 TJP2 NM_004817.3(TJP2): c.1210G> A (p.Asp404Asn) single nucleotide variant Likely pathogenic rs1060499649 GRCh38 Chromosome 9, 69226175: 69226175
26 TJP2 NM_004817.3(TJP2): c.1210G> A (p.Asp404Asn) single nucleotide variant Likely pathogenic rs1060499649 GRCh37 Chromosome 9, 71841091: 71841091
27 TJP2 NM_004817.3(TJP2): c.813_814delCG (p.Ala273Profs) deletion Pathogenic GRCh38 Chromosome 9, 69221357: 69221358
28 TJP2 NM_004817.3(TJP2): c.782delA (p.Tyr261Serfs) deletion Pathogenic rs771690686 GRCh37 Chromosome 9, 71836242: 71836242
29 TJP2 NM_004817.3(TJP2): c.782delA (p.Tyr261Serfs) deletion Pathogenic rs771690686 GRCh38 Chromosome 9, 69221326: 69221326
30 TJP2 NM_001170416.1(TJP2): c.108delC (p.Asn37Thrfs) deletion Pathogenic GRCh37 Chromosome 9, 71820185: 71820185
31 TJP2 NM_001170416.1(TJP2): c.108delC (p.Asn37Thrfs) deletion Pathogenic GRCh38 Chromosome 9, 69205269: 69205269

Expression for Cholestasis, Progressive Familial Intrahepatic, 4

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Pathways for Cholestasis, Progressive Familial Intrahepatic, 4

GO Terms for Cholestasis, Progressive Familial Intrahepatic, 4

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