Indolent systemic mastocytosis

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 12
OrphanetNr: 98848
OMIM Id:
ICD-10: D47.0
UMLs: C0272203
MeSH:
MedDRA: 10056452
Snomed: 397356009
70910003

Prevalence, inheritance and age of onset:

Prevalence: 3.8 of 100 000 [Orphanet]
Inheritance: Not applicable
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Systemic mastocytosis
 -Rare hematologic disease
 -Rare oncologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0100851) Abnormal emotion/affect behavior Frequent [Orphanet] 85 / 7739
2
 (HPO:0002315) Headache Very frequent [Orphanet] 175 / 7739
3
 (HPO:0004349) Reduced bone mineral density Occasional [Orphanet] 165 / 7739
4
 (HPO:0002017) Nausea and vomiting Very frequent [Orphanet] 134 / 7739
5
 (HPO:0002592) Gastric ulcer Occasional [Orphanet] 39 / 7739
6
 (HPO:0002027) Abdominal pain Very frequent [Orphanet] 184 / 7739
7
 (HPO:0002014) Diarrhea Very frequent [Orphanet] 225 / 7739
8
 (HPO:0001000) Abnormality of skin pigmentation Very frequent [Orphanet] 105 / 7739
9
 (HPO:0000989) Pruritus Very frequent [Orphanet] 111 / 7739
10
 (HPO:0001025) Urticaria Very frequent [Orphanet] 73 / 7739
11
 (HPO:0001695) Cardiac arrest Very frequent [Orphanet] 87 / 7739
12
 (HPO:0100495) Mastocytosis Very frequent [Orphanet] 14 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: