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erythrokeratodermia variabilis et progressiva 1
Summary
- Definition
- An erythrokeratodermia variabilis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in GJB3 on 1p34.3.
- Super Class
- autosomal dominant disease autosomal recessive disease erythrokeratodermia variabilis
External Links
- Disease Ontology
- DOID:0111195
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q06136 | 3-ketodihydrosphingosine reductase | |
| Q9GZR5 | Very long chain fatty acid elongase 4 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001034 | Hypermelanotic macule |
| HP:0000501 | Glaucoma |
| HP:0002230 | Generalized hirsutism |
| HP:0030680 | Abnormal cardiovascular system morphology |
| HP:0001182 | Tapered finger |
| HP:0000819 | Diabetes mellitus |
| HP:0005588 | Patchy palmoplantar hyperkeratosis |
| HP:0000365 | Hearing impairment |
| HP:0001597 | Abnormality of the nail |
| HP:0008069 | Neoplasm of the skin |
