Systemic mastocytosis

General Information (adopted from Orphanet):

Synonyms, Signs: Mast cell disease
Number of Symptoms 33
OrphanetNr: 2467
OMIM Id:
ICD-10: C96.2
UMLs: C0221013
MeSH: D034721
MedDRA: 10042949
Snomed: 397016004

Prevalence, inheritance and age of onset:

Prevalence: 3.3 of 100 000 [Orphanet]
Inheritance: Not applicable
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Mastocytosis
 -Rare hematologic disease
 -Rare oncologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002315) Headache Very frequent [Orphanet] 175 / 7739
2
 (HPO:0011001) Increased bone mineral density Frequent [Orphanet] 78 / 7739
3
 (HPO:0002797) Osteolysis Occasional [Orphanet] 68 / 7739
4
 (HPO:0002659) Increased susceptibility to fractures Occasional [Orphanet] 110 / 7739
5
 (HPO:0002653) Bone pain Occasional [Orphanet] 75 / 7739
6
 (HPO:0005059) Arthralgia/arthritis Occasional [Orphanet] 141 / 7739
7
 (HPO:0004349) Reduced bone mineral density Frequent [Orphanet] 165 / 7739
8
 (HPO:0002027) Abdominal pain Very frequent [Orphanet] 184 / 7739
9
 (HPO:0001409) Portal hypertension Occasional [Orphanet] 39 / 7739
10
 (HPO:0002240) Hepatomegaly Occasional [Orphanet] 467 / 7739
11
 (HPO:0001541) Ascites Occasional [Orphanet] 94 / 7739
12
 (HPO:0002024) Malabsorption Very frequent [Orphanet] 142 / 7739
13
 (HPO:0001744) Splenomegaly Occasional [Orphanet] 337 / 7739
14
 (HPO:0002017) Nausea and vomiting Very frequent [Orphanet] 134 / 7739
15
 (HPO:0001394) Cirrhosis Occasional [Orphanet] 102 / 7739
16
 (HPO:0002592) Gastric ulcer Occasional [Orphanet] 39 / 7739
17
 (HPO:0001025) Urticaria Very frequent [Orphanet] 73 / 7739
18
 (HPO:0000988) Skin rash Frequent [Orphanet] 98 / 7739
19
 (HPO:0001695) Cardiac arrest Occasional [Orphanet] 87 / 7739
20
 (HPO:0011675) Arrhythmia Occasional [Orphanet] 226 / 7739
21
 (HPO:0002488) Acute leukemia Occasional [Orphanet] 29 / 7739
22
 (HPO:0100495) Mastocytosis Very frequent [Orphanet] 14 / 7739
23
 (HPO:0001871) Abnormality of blood and blood-forming tissues Very frequent [Orphanet] 37 / 7739
24
 (HPO:0001909) Leukemia Occasional [Orphanet] 46 / 7739
25
 (HPO:0001879) Abnormality of eosinophils Very frequent [Orphanet] 20 / 7739
26
 (HPO:0001876) Pancytopenia Occasional [Orphanet] 89 / 7739
27
 (HPO:0001882) Leukopenia Frequent [Orphanet] 51 / 7739
28
 (HPO:0001873) Thrombocytopenia Frequent [Orphanet] 224 / 7739
29
 (HPO:0001903) Anemia Frequent [Orphanet] 289 / 7739
30
 (HPO:0002099) Asthma Occasional [Orphanet] 62 / 7739
31
 (HPO:0002716) Lymphadenopathy Occasional [Orphanet] 129 / 7739
32
 (HPO:0100326) Immunologic hypersensitivity Very frequent [Orphanet] 28 / 7739
33
 (HPO:0003326) Myalgia Occasional [Orphanet] 143 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: