Phytanic Acid Storage Disease(Refsum 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 | PHYH/5264 | phytanoyl-CoA 2-hydroxylase | 10p13 | Chr10, NC_000010.11 (13277799..13300064, complement) |
22266 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | PEX7/5191 | peroxisomal biogenesis factor 7 | 6q23.3 | Chr6, NC_000006.12 (136822592..136913934) |
91343 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: GARD GTR MalaCards NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |