Cutaneous mastocytosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 37 |
| OrphanetNr: | 66646 |
| OMIM Id: |
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| ICD-10: |
Q82.2 |
| UMLs: |
C1136033 |
| MeSH: |
D034701 |
| MedDRA: |
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| Snomed: |
397012002 |
Prevalence, inheritance and age of onset:
| Prevalence: | 0.75 of 100 000 [Orphanet] |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Mastocytosis
-Rare hematologic disease -Rare oncologic disease Rare urticaria -Rare allergic disease -Rare skin disease |
Symptom Information:
|
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(HPO:0011037) | Decreased urine output | Occasional [Orphanet] | 47 / 7739 | |||
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(HPO:0002315) | Headache | Occasional [Orphanet] | 175 / 7739 | |||
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(HPO:0100851) | Abnormal emotion/affect behavior | Occasional [Orphanet] | 85 / 7739 | |||
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(HPO:0004349) | Reduced bone mineral density | Occasional [Orphanet] | 165 / 7739 | |||
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(HPO:0011001) | Increased bone mineral density | Occasional [Orphanet] | 78 / 7739 | |||
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(HPO:0002659) | Increased susceptibility to fractures | Occasional [Orphanet] | 110 / 7739 | |||
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(HPO:0002014) | Diarrhea | Occasional [Orphanet] | 225 / 7739 | |||
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(HPO:0002239) | Gastrointestinal hemorrhage | Occasional [Orphanet] | 97 / 7739 | |||
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(HPO:0002240) | Hepatomegaly | Occasional [Orphanet] | 467 / 7739 | |||
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(HPO:0002017) | Nausea and vomiting | Occasional [Orphanet] | 134 / 7739 | |||
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(HPO:0002024) | Malabsorption | Occasional [Orphanet] | 142 / 7739 | |||
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(HPO:0002027) | Abdominal pain | Frequent [Orphanet] | 184 / 7739 | |||
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(HPO:0001744) | Splenomegaly | Occasional [Orphanet] | 337 / 7739 | |||
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(HPO:0000989) | Pruritus | Very frequent [Orphanet] | 111 / 7739 | |||
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(HPO:0001025) | Urticaria | Very frequent [Orphanet] | 73 / 7739 | |||
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(HPO:0001031) | Subcutaneous lipoma | Very frequent [Orphanet] | 112 / 7739 | |||
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(HPO:0100665) | Angioedema | Occasional [Orphanet] | 14 / 7739 | |||
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(HPO:0200037) | Skin vesicle | Frequent [Orphanet] | 102 / 7739 | |||
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(HPO:0100585) | Telangiectasia of the skin | Occasional [Orphanet] | 66 / 7739 | |||
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(HPO:0010783) | Erythema | Very frequent [Orphanet] | 138 / 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:0011675) | Arrhythmia | Occasional [Orphanet] | 226 / 7739 | |||
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(HPO:0001677) | Coronary artery disease | Occasional [Orphanet] | 58 / 7739 | |||
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(HPO:0002615) | Hypotension | Occasional [Orphanet] | 52 / 7739 | |||
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(HPO:0100495) | Mastocytosis | Very frequent [Orphanet] | 14 / 7739 | |||
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(HPO:0001909) | Leukemia | Occasional [Orphanet] | 46 / 7739 | |||
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(HPO:0003072) | Hypercalcemia | Occasional [Orphanet] | 36 / 7739 | |||
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(HPO:0002099) | Asthma | Occasional [Orphanet] | 62 / 7739 | |||
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(HPO:0002093) | Respiratory insufficiency | Occasional [Orphanet] | 410 / 7739 | |||
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(HPO:0100242) | Sarcoma | Occasional [Orphanet] | 27 / 7739 | |||
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(HPO:0100326) | Immunologic hypersensitivity | Occasional [Orphanet] | 28 / 7739 | |||
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(HPO:0001324) | Muscle weakness | Occasional [Orphanet] | 859 / 7739 | |||
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(MedDRA:10025421) | Macule | Very frequent [Orphanet] | 55 / 7739 | |||
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(HPO:0030350) | Erythematous papule | Very frequent [Orphanet] | 123 / 7739 | |||
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([DEL]MedDRA:10011224) | Cough | Occasional [Orphanet] | 70 / 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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