MCID: CHL091
MIFTS: 22

Cholestasis, Progressive Familial Intrahepatic, 5

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

Aliases & Classifications for Cholestasis, Progressive Familial Intrahepatic, 5

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

Name: Cholestasis, Progressive Familial Intrahepatic, 5 53 71 28
Pfic5 53 55 71
Progressive Familial Intrahepatic Cholestasis Type 5 55
Nr1h4 Deficiency 55

Characteristics:

OMIM:

53
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:

31
cholestasis, progressive familial intrahepatic, 5:
Onset and clinical course rapidly progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cholestasis, Progressive Familial Intrahepatic, 5

OMIM : 53 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, and has symptoms including edema, failure to thrive and hypoglycemia. An important gene associated with Cholestasis, Progressive Familial Intrahepatic, 5 is NR1H4 (Nuclear Receptor Subfamily 1 Group H Member 4). Affiliated tissues include liver.

UniProtKB/Swiss-Prot : 71 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:

53
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:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 edema 31 occasional (7.5%) HP:0000969
2 failure to thrive 31 HP:0001508
3 hypoglycemia 31 HP:0001943
4 elevated hepatic transaminases 31 HP:0002910
5 cirrhosis 31 HP:0001394
6 jaundice 31 HP:0000952
7 hepatic failure 31 HP:0001399
8 hyperammonemia 31 HP:0001987
9 prolonged prothrombin time 31 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 28 NR1H4

Anatomical Context for Cholestasis, Progressive Familial Intrahepatic, 5

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

38
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.526C> T (p.Arg176Ter) single nucleotide variant Pathogenic rs113090017 GRCh37 Chromosome 12, 100926316: 100926316
3 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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