Bullous diffuse cutaneous mastocytosis
General Information (adopted from Orphanet):
Synonyms, Signs: |
Bullous DCM |
Number of Symptoms | 7 |
OrphanetNr: | 280785 |
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:
|
(HPO:0010783) | Erythema | Very frequent [Orphanet] | 138 / 7739 | |||
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(HPO:0000989) | Pruritus | Very frequent [Orphanet] | 111 / 7739 | |||
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(HPO:0200037) | Skin vesicle | Very frequent [Orphanet] | 102 / 7739 | |||
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(HPO:0001025) | Urticaria | Very frequent [Orphanet] | 73 / 7739 | |||
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(HPO:0001000) | Abnormality of skin pigmentation | Very frequent [Orphanet] | 105 / 7739 | |||
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(HPO:0001695) | Cardiac arrest | Occasional [Orphanet] | 87 / 7739 | |||
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(HPO:0100495) | Mastocytosis | Very frequent [Orphanet] | 14 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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