Acute Intermittent Porphyria(Acute Porphyria) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Metabolic disorders category
Candidate Gene Information
An Autosomal dominant 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 | HMBS/3145 | hydroxymethylbilane synthase | 11q23.3 | Chr11, NC_000011.10 (119084881..119093549) |
8669 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | ABCB6/10058 | ATP binding cassette subfamily B member 6 (LAN blood group) | 2q35 | Chr2, NC_000002.12 (219209772..219218958, complement) |
9187 nt | 19 | 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 NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |