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progressive familial intrahepatic cholestasis 1
Summary
- Synonym
-
- FIC1 deficiency
- PFIC1
- Definition
- A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21.
- Super Class
- autosomal recessive disease progressive familial intrahepatic cholestasis
External Links
- Disease Ontology
- DOID:0070226
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- GARD
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 28 | ABO | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | |
| 2678 | GGT1 | gamma-glutamyltransferase 1 | |
| 4669 | NAGLU | N-acetyl-alpha-glucosaminidase | |
| 10724 | OGA | O-GlcNAcase | |
| 80270 | HSD3B7 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60502 | Protein O-GlcNAcase | |
| P16442 | Histo-blood group ABO system transferase | |
| P19440 | Glutathione hydrolase 1 proenzyme | |
| P54802 | Alpha-N-acetylglucosaminidase |
