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MIRAGE
primary localized cutaneous amyloidosis 3
Summary
- Synonym
-
- Amyloidosis cutis dyschromica
- Definition
- A primary cutaneous amyloidosis that is characterized by deposits of keratinocyte-derived amyloid in the skin and that has_material_basis_in homozygous or compound heterozygous mutation in the GPNMB gene on chromosome 7p15. Onset occurs before puberty and involves macular or reticulate hyperpigmentation admixed with symmetrically distributed guttate hypopigmented and hyperpigmented lesions.
- Super Class
- primary cutaneous amyloidosis
External Links
- Disease Ontology
- DOID:0080932
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q14956 | Transmembrane glycoprotein NMB |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003621 | Juvenile onset |
| HP:0000989 | Pruritus |
| HP:0011463 | Childhood onset |
| HP:0001034 | Hypermelanotic macule |
| HP:0000992 | Cutaneous photosensitivity |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0007440 | Generalized hyperpigmentation |
| HP:0000958 | Dry skin |
