MCID: CHL091
MIFTS: 24

Cholestasis, Progressive Familial Intrahepatic, 5

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

Aliases & Classifications for Cholestasis, Progressive Familial Intrahepatic, 5

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

Name: Cholestasis, Progressive Familial Intrahepatic, 5 54 71 29
Pfic5 56 71
Progressive Familial Intrahepatic Cholestasis Type 5 56
Cholestasis, Progressive Familial Intrahepatic 5 24
Nr1h4 Deficiency 56

Characteristics:

OMIM:

54
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


Classifications:



External Ids:

OMIM 54 617049
Orphanet 56 ORPHA480476
MedGen 40 CN237812
MeSH 42 D002780

Summaries for Cholestasis, Progressive Familial Intrahepatic, 5

OMIM : 54
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). The drugs Cholestyramine Resin and Hypolipidemic Agents have been mentioned in the context of this disorder. 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:

54

Growth- Other:
failure to thrive

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

Hematology:
prolonged prothrombin time
vitamin k-independent coagulopathy
increased inr
decreased levels of factor v and vii

Skin Nails & Hair- Skin:
jaundice

Abdomen- Liver:
fibrosis
liver failure
cirrhosis
ductal reaction seen on liver biopsy
intralobular cholestasis
more
Prenatal Manifestations- Amniotic Fluid:
hydrops (1 patient)


Clinical features from OMIM:

617049

Drugs & Therapeutics for Cholestasis, Progressive Familial Intrahepatic, 5

Drugs for Cholestasis, Progressive Familial Intrahepatic, 5 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Cholestyramine Resin Phase 1
2 Hypolipidemic Agents Phase 1
3 Anticholesteremic Agents Phase 1
4 Lipid Regulating Agents Phase 1
5 Antimetabolites Phase 1
6 Cola Nutraceutical Phase 1
7 Alpha 1-Antitrypsin
8 Protein C Inhibitor
9 Liver Extracts
10 Bile Acids and Salts

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Second-line Therapy of Unresectable Cholangiocarcinoma by RADIOEMBOLIZATION Terminated NCT01383746 Phase 1, Phase 2
2 A Safety and Pharmakokinetic Study of A4250 Alone or in Combination With A3384 Completed NCT02963077 Phase 1 A4250;CRC (A3384);Questran;Placebo
3 Evaluating the Genetic Causes and Progression of Cholestatic Liver Diseases (LOGIC) Recruiting NCT00571272

Search 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:

id Genetic test Affiliating Genes
1 Cholestasis, Progressive Familial Intrahepatic, 5 29
2 Cholestasis, Progressive Familial Intrahepatic 5 24 NR1H4

Anatomical Context for Cholestasis, Progressive Familial Intrahepatic, 5

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

39
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
id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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