Aggressive systemic mastocytosis

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 45
OrphanetNr: 98850
OMIM Id:
ICD-10: C96.2
UMLs: C1112486
MeSH:
MedDRA: 10056453
Snomed: 397008008
397358005

Prevalence, inheritance and age of onset:

Prevalence: 0.2 of 100 000 [Orphanet]
Inheritance: Not applicable
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
 (HPO:0000217) Xerostomia Occasional [Orphanet] 35 / 7739
2
 (HPO:0001357) Plagiocephaly Very frequent [Orphanet] 106 / 7739
3
 (HPO:0100851) Abnormal emotion/affect behavior Frequent [Orphanet] 85 / 7739
4
 (HPO:0002653) Bone pain Very frequent [Orphanet] 75 / 7739
5
 (HPO:0005059) Arthralgia/arthritis Frequent [Orphanet] 141 / 7739
6
 (HPO:0010622) Neoplasm of the skeletal system Frequent [Orphanet] 30 / 7739
7
 (HPO:0002659) Increased susceptibility to fractures Occasional [Orphanet] 110 / 7739
8
 (HPO:0011001) Increased bone mineral density Occasional [Orphanet] 78 / 7739
9
 (HPO:0004349) Reduced bone mineral density Frequent [Orphanet] 165 / 7739
10
 (HPO:0002240) Hepatomegaly Very frequent [Orphanet] 467 / 7739
11
 (HPO:0002039) Anorexia Occasional [Orphanet] 62 / 7739
12
 (HPO:0002592) Gastric ulcer Frequent [Orphanet] 39 / 7739
13
 (HPO:0002027) Abdominal pain Very frequent [Orphanet] 184 / 7739
14
 (HPO:0002014) Diarrhea Frequent [Orphanet] 225 / 7739
15
 (HPO:0001744) Splenomegaly Very frequent [Orphanet] 337 / 7739
16
 (HPO:0002024) Malabsorption Frequent [Orphanet] 142 / 7739
17
 (HPO:0002017) Nausea and vomiting Very frequent [Orphanet] 134 / 7739
18
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
19
 (HPO:0001025) Urticaria Very frequent [Orphanet] 73 / 7739
20
 (HPO:0001000) Abnormality of skin pigmentation Frequent [Orphanet] 105 / 7739
21
 (HPO:0010783) Erythema Frequent [Orphanet] 138 / 7739
22
 (HPO:0001031) Subcutaneous lipoma Very frequent [Orphanet] 112 / 7739
23
 (HPO:0100585) Telangiectasia of the skin Occasional [Orphanet] 66 / 7739
24
 (HPO:0000989) Pruritus Frequent [Orphanet] 111 / 7739
25
 (HPO:0002615) Hypotension Frequent [Orphanet] 52 / 7739
26
 (HPO:0001695) Cardiac arrest Frequent [Orphanet] 87 / 7739
27
 (HPO:0011675) Arrhythmia Frequent [Orphanet] 226 / 7739
28
 (HPO:0001879) Abnormality of eosinophils Very frequent [Orphanet] 20 / 7739
29
 (HPO:0001909) Leukemia Occasional [Orphanet] 46 / 7739
30
 (HPO:0001903) Anemia Frequent [Orphanet] 289 / 7739
31
 (HPO:0002488) Acute leukemia Occasional [Orphanet] 29 / 7739
32
 (HPO:0005561) Abnormality of bone marrow cell morphology Very frequent [Orphanet] 11 / 7739
33
 (HPO:0100495) Mastocytosis Very frequent [Orphanet] 14 / 7739
34
 (HPO:0002665) Lymphoma Occasional [Orphanet] 60 / 7739
35
 (HPO:0001882) Leukopenia Frequent [Orphanet] 51 / 7739
36
 (HPO:0001876) Pancytopenia Occasional [Orphanet] 89 / 7739
37
 (HPO:0002093) Respiratory insufficiency Occasional [Orphanet] 410 / 7739
38
 (HPO:0002099) Asthma Occasional [Orphanet] 62 / 7739
39
 (HPO:0002113) Pulmonary infiltrates Occasional [Orphanet] 36 / 7739
40
 (HPO:0100242) Sarcoma Occasional [Orphanet] 27 / 7739
41
 (HPO:0100326) Immunologic hypersensitivity Very frequent [Orphanet] 28 / 7739
42
 (HPO:0002716) Lymphadenopathy Occasional [Orphanet] 129 / 7739
43
 (HPO:0001324) Muscle weakness Very frequent [Orphanet] 859 / 7739
44
 (HPO:0030350) Erythematous papule Very frequent [Orphanet] 123 / 7739
45
 (MedDRA:10025421) Macule Very frequent [Orphanet] 55 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: