Fabry Disease(Angiokeratoma corporis diffusum) Explore Disorder's Alias
An X-linked recessive, X-linked dominant mode(s) within the Metabolic disorders/Lysosomal storage disorders category
Candidate Gene Information
An X-linked recessive, X-linked dominant mode(s) within the Metabolic disorders/Lysosomal storage 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 | GLA/2717 | galactosidase alpha | Xq22.1 | ChrX, NC_000023.11 (101397803..101407925, complement) |
10123 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative Human Phenotype Ontology NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |