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mal de Meleda
Summary
- Synonym
-
- Meleda disease
- keratosis palmoplantaris transgrediens of Siemens
- transgrediens palmoplantar keratoderma of Siemens
- Definition
- A palmoplantar keratosis characterized by autosomal recessive inheritance of symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet and ichthyotic changes elsewhere that has_material_basis_in homozygous mutation in the SLURP1 gene on chromosome 8q24.
- Super Class
- palmoplantar keratosis
External Links
- Disease Ontology
- DOID:0060862
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 142 | PARP1 | poly(ADP-ribose) polymerase 1 | |
| 537 | ATP6AP1 | ATPase H+ transporting accessory protein 1 | |
| 847 | CAT | catalase | |
| 1634 | DCN | decorin | |
| 1717 | DHCR7 | 7-dehydrocholesterol reductase | |
| 1892 | ECHS1 | enoyl-CoA hydratase, short chain 1 | |
| 4594 | MMUT | methylmalonyl-CoA mutase | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5336 | PLCG2 | phospholipase C gamma 2 | |
| 5373 | PMM2 | phosphomannomutase 2 |
Related Glycoprotein
