Dowling-Degos Disease(Reticular pigment anomaly of flexures) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Skin disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Skin 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 | KRT5/3852 | keratin 5 | 12q13.13 | Chr12, NC_000012.12 (52514575..52520394, complement) |
5820 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | POFUT1/23509 | protein O-fucosyltransferase 1 | 20q11.21 | Chr20, NC_000020.11 (32207880..32238658) |
30779 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | POGLUT1/56983 | protein O-glucosyltransferase 1 | 3q13.33 | Chr3, NC_000003.12 (119468963..119494708) |
25746 nt | 13 | 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 |