MCID: CHL091
MIFTS: 22

Cholestasis, Progressive Familial Intrahepatic, 5

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

Aliases & Classifications for Cholestasis, Progressive Familial Intrahepatic, 5

MalaCards integrated aliases for Cholestasis, Progressive Familial Intrahepatic, 5:

Name: Cholestasis, Progressive Familial Intrahepatic, 5 57 75 29 6
Pfic5 57 59 75
Cholestasis, Intrahepatic, Familial, Progressive, Type 5 40
Progressive Familial Intrahepatic Cholestasis Type 5 59
Nr1h4 Deficiency 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
rapid progression
two unrelated families have been reported (last curated july 2016)
onset at birth or in the neonatal period
fatal unless liver transplant is performed


HPO:

32
cholestasis, progressive familial intrahepatic, 5:
Onset and clinical course rapidly progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cholestasis, Progressive Familial Intrahepatic, 5

OMIM : 57 Progressive familial intrahepatic cholestasis-5 (PFIC5) is an autosomal recessive severe liver disorder characterized by onset of intralobular cholestasis in the neonatal period. The disease is rapidly progressive, leading to liver failure and death if liver transplant is not performed. Other features include abnormal liver enzymes, low to normal gamma-glutamyl transferase (GGT) activity, increased alpha-fetoprotein, and a vitamin K-independent coagulopathy (summary by Gomez-Ospina et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of PFIC, see PFIC1 (211600). (617049)

MalaCards based summary : Cholestasis, Progressive Familial Intrahepatic, 5, is also known as pfic5. An important gene associated with Cholestasis, Progressive Familial Intrahepatic, 5 is NR1H4 (Nuclear Receptor Subfamily 1 Group H Member 4). Affiliated tissues include liver, and related phenotypes are jaundice and edema

UniProtKB/Swiss-Prot : 75 Cholestasis, progressive familial intrahepatic, 5: A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. PFIC5 is an autosomal recessive, severe form characterized by onset of intralobular cholestasis in the neonatal period.

Related Diseases for Cholestasis, Progressive Familial Intrahepatic, 5

Symptoms & Phenotypes for Cholestasis, Progressive Familial Intrahepatic, 5

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

Abdomen Liver:
cirrhosis
liver failure
fibrosis
ductal reaction seen on liver biopsy
intralobular cholestasis
more
Hematology:
prolonged prothrombin time
vitamin k-independent coagulopathy
increased inr
decreased levels of factor v and vii

Laboratory Abnormalities:
hypoglycemia
hyperammonemia
abnormal liver enzymes
increased alpha-fetoprotein
ggt is not increased

Skin Nails Hair Skin:
jaundice

Prenatal Manifestations Amniotic Fluid:
hydrops (1 patient)


Clinical features from OMIM:

617049

Human phenotypes related to Cholestasis, Progressive Familial Intrahepatic, 5:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 jaundice 32 HP:0000952
2 edema 32 occasional (7.5%) HP:0000969
3 cirrhosis 32 HP:0001394
4 hepatic failure 32 HP:0001399
5 failure to thrive 32 HP:0001508
6 hypoglycemia 32 HP:0001943
7 hyperammonemia 32 HP:0001987
8 elevated hepatic transaminases 32 HP:0002910
9 prolonged prothrombin time 32 HP:0008151

Drugs & Therapeutics for Cholestasis, Progressive Familial Intrahepatic, 5

Search Clinical Trials , NIH Clinical Center for Cholestasis, Progressive Familial Intrahepatic, 5

Genetic Tests for Cholestasis, Progressive Familial Intrahepatic, 5

Genetic tests related to Cholestasis, Progressive Familial Intrahepatic, 5:

# Genetic test Affiliating Genes
1 Cholestasis, Progressive Familial Intrahepatic, 5 29 NR1H4

Anatomical Context for Cholestasis, Progressive Familial Intrahepatic, 5

MalaCards organs/tissues related to Cholestasis, Progressive Familial Intrahepatic, 5:

41
Liver

Publications for Cholestasis, Progressive Familial Intrahepatic, 5

Variations for Cholestasis, Progressive Familial Intrahepatic, 5

ClinVar genetic disease variations for Cholestasis, Progressive Familial Intrahepatic, 5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NR1H4 NM_005123.3(NR1H4): c.419_420insAAA (p.Tyr139_Asn140insLys) insertion Pathogenic rs879255644 GRCh37 Chromosome 12, 100904895: 100904896
2 NR1H4 NM_005123.3(NR1H4): c.419_420insAAA (p.Tyr139_Asn140insLys) insertion Pathogenic rs879255644 GRCh38 Chromosome 12, 100511117: 100511118
3 NR1H4 NM_005123.3(NR1H4): c.526C> T (p.Arg176Ter) single nucleotide variant Pathogenic rs113090017 GRCh37 Chromosome 12, 100926316: 100926316
4 NR1H4 NM_005123.3(NR1H4): c.526C> T (p.Arg176Ter) single nucleotide variant Pathogenic rs113090017 GRCh38 Chromosome 12, 100532538: 100532538
5 NR1H4 NR1H4, 31.7-KB DEL deletion Pathogenic

Expression for Cholestasis, Progressive Familial Intrahepatic, 5

Search GEO for disease gene expression data for Cholestasis, Progressive Familial Intrahepatic, 5.

Pathways for Cholestasis, Progressive Familial Intrahepatic, 5

GO Terms for Cholestasis, Progressive Familial Intrahepatic, 5

Sources for Cholestasis, Progressive Familial Intrahepatic, 5

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17 ExPASy
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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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