Pseudoxanthomatous diffuse cutaneous mastocytosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Infiltrative small vesicular DCM Pseudoxanthomatous DCM Infiltrative small vesicular diffuse cutaneous mastocytosis |
| Number of Symptoms | 3 |
| OrphanetNr: | 280794 |
| OMIM Id: |
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| ICD-10: |
Q82.2 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Diffuse cutaneous mastocytosis
-Rare allergic disease -Rare hematologic disease -Rare oncologic disease -Rare skin disease |
Symptom Information:
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(HPO:0200037) | Skin vesicle | Very frequent [Orphanet] | 102 / 7739 | |||
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(HPO:0100495) | Mastocytosis | Very frequent [Orphanet] | 14 / 7739 | |||
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(OMIM) | Stiff skin | Very frequent [Orphanet] | 31 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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