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cholestasis, progressive familial intrahepatic, 5 | RareConnect | RareConnect.io

/progressive familial intrahepatic cholestasis

/cholestasis, progressive familial intrahepatic, 5

cholestasis, progressive familial intrahepatic, 5

Rare Disease

MONDO:0014884

Also Known As

NR1H4 deficiencyNR1H4 progressive familial intrahepatic cholestasisPFIC5cholestasis, progressive familial intrahepatic, 5cholestasis, progressive familial intrahepatic, 5; PFIC5cholestasis, progressive familial intrahepatic, type 5progressive familial intrahepatic cholestasis caused by mutation in NR1H4

Definition

Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the NR1H4 gene.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:617049 ↗

Orphanet

Orphanet:480476 ↗

GARD

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