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recessive dystrophic epidermolysis bullosa
Summary
- Synonym
-
- RDEB, Hallopeau-Siemens type
- autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
- autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type
- Definition
- An epidermolysis bullosa dystrophica characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane; it has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding type VII collagen (COL7A1) on chromosome 3p21.
- Super Class
- autosomal recessive disease epidermolysis bullosa dystrophica
External Links
- Disease Ontology
- DOID:0060642
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 412 | STS | steroid sulfatase | |
| 847 | CAT | catalase | |
| 960 | CD44 | CD44 molecule (IN blood group) | |
| 1634 | DCN | decorin | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma |
Related Glycoprotein
