Diffuse cutaneous mastocytosis
General Information (adopted from Orphanet):
Synonyms, Signs: |
DCM Diffuse cutaneous maculopapulous mastocytosis |
Number of Symptoms | 15 |
OrphanetNr: | 79456 |
OMIM Id: |
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ICD-10: |
Q82.2 |
UMLs: |
C0024901 |
MeSH: |
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MedDRA: |
10012812 |
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: |
Cutaneous mastocytosis
-Rare allergic disease -Rare hematologic disease -Rare oncologic disease -Rare skin disease |
Symptom Information:
|
(HPO:0002024) | Malabsorption | Occasional [Orphanet] | 142 / 7739 | |||
|
(HPO:0002239) | Gastrointestinal hemorrhage | Occasional [Orphanet] | 97 / 7739 | |||
|
(HPO:0002240) | Hepatomegaly | Occasional [Orphanet] | 467 / 7739 | |||
|
(HPO:0200037) | Skin vesicle | Very frequent [Orphanet] | 102 / 7739 | |||
|
(HPO:0000989) | Pruritus | Frequent [Orphanet] | 111 / 7739 | |||
|
(HPO:0001072) | Thickened skin | Frequent [Orphanet] | 87 / 7739 | |||
|
(HPO:0001000) | Abnormality of skin pigmentation | Frequent [Orphanet] | 105 / 7739 | |||
|
(HPO:0010783) | Erythema | Very frequent [Orphanet] | 138 / 7739 | |||
|
(HPO:0001933) | Subcutaneous hemorrhage | Frequent [Orphanet] | 50 / 7739 | |||
|
(HPO:0001025) | Urticaria | Frequent [Orphanet] | 73 / 7739 | |||
|
(HPO:0002615) | Hypotension | Frequent [Orphanet] | 52 / 7739 | |||
|
(HPO:0001909) | Leukemia | Occasional [Orphanet] | 46 / 7739 | |||
|
(HPO:0100495) | Mastocytosis | Very frequent [Orphanet] | 14 / 7739 | |||
|
(HPO:0100326) | Immunologic hypersensitivity | Occasional [Orphanet] | 28 / 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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