Progressive Familial Intrahepatic Cholestasis Type 1(Byler disease) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Metabolic disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Metabolic disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | ATP8B1/5205 | ATPase phospholipid transporting 8B1 | 18q21.31 | Chr18, NC_000018.10 (57646426..57803315, complement) |
156890 nt | 32 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | ABCB4/5244 | ATP binding cassette subfamily B member 4 | 7q21.12 | Chr7, NC_000007.14 (87365896..87476027, complement) |
110132 nt | 34 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | NR1H4/9971 | nuclear receptor subfamily 1 group H member 4 | 12q23.1 | Chr12, NC_000012.12 (100473866..100564414) |
90549 nt | 14 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | LSR/51599 | lipolysis stimulated lipoprotein receptor | 19q13.12 | Chr19, NC_000019.10 (35249002..35267964) |
18963 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information Highlighted rows indicate variants are reported from India | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
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