Mastocytosis

General Information (adopted from Orphanet):

Synonyms, Signs: MASTOCYTOSIS URTICARIA PIGMENTOSA, INCLUDED
Number of Symptoms 32
OrphanetNr: 98292
OMIM Id: 154800
ICD-10: C96.2
D47.0
Q82.2
UMLs: C0024899
C0334664
MeSH: D008415
MedDRA: 10026891
Snomed: 127581004
397007003
414653009

Prevalence, inheritance and age of onset:

Prevalence: 9 of 100 000 [Orphanet]
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Tumor of hematopoietic and lymphoid tissues
 -Rare hematologic disease
 -Rare oncologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002039) Anorexia Occasional [Orphanet] 62 / 7739
2
 (HPO:0002014) Diarrhea Frequent [Orphanet] 225 / 7739
3
 (HPO:0002017) Nausea and vomiting Frequent [Orphanet] 134 / 7739
4
 (HPO:0002239) Gastrointestinal hemorrhage Occasional [Orphanet] 97 / 7739
5
 (HPO:0002099) Asthma Occasional [Orphanet] 62 / 7739
6
 (HPO:0002093) Respiratory insufficiency 410 / 7739
7
 (HPO:0003072) Hypercalcemia Occasional [Orphanet] 36 / 7739
8
 (HPO:0011675) Arrhythmia Occasional [Orphanet] 226 / 7739
9
 (HPO:0002615) Hypotension Occasional [Orphanet] 52 / 7739
10
 (HPO:0100665) Angioedema Occasional [Orphanet] 14 / 7739
11
 (HPO:0100326) Immunologic hypersensitivity Occasional [Orphanet] 28 / 7739
12
 (HPO:0001909) Leukemia Occasional [Orphanet] 46 / 7739
13
 (HPO:0002488) Acute leukemia Occasional [Orphanet] 29 / 7739
14
 (HPO:0100495) Mastocytosis Very frequent [Orphanet] 14 / 7739
15
 (HPO:0001324) Muscle weakness Occasional [Orphanet] 859 / 7739
16
 (HPO:0004349) Reduced bone mineral density Occasional [Orphanet] 165 / 7739
17
 (HPO:0002659) Increased susceptibility to fractures Occasional [Orphanet] 110 / 7739
18
 (HPO:0002240) Hepatomegaly Occasional [Orphanet] 467 / 7739
19
 (HPO:0001744) Splenomegaly Occasional [Orphanet] 337 / 7739
20
 ([DEL]MedDRA:10011224) Cough Occasional [Orphanet] 70 / 7739
21
 (HPO:0001000) Abnormality of skin pigmentation Very frequent [Orphanet] 105 / 7739
22
 (MedDRA:10025421) Macule Very frequent [Orphanet] 55 / 7739
23
 (HPO:0000989) Pruritus Very frequent [Orphanet] 111 / 7739
24
 (HPO:0001025) Urticaria Very frequent [Orphanet] 73 / 7739
25
 (HPO:0007583) Telangiectasia macularis eruptiva perstans 2 / 7739
26
 (HPO:0100585) Telangiectasia of the skin Occasional [Orphanet] 66 / 7739
27
 (HPO:0200037) Skin vesicle Frequent [Orphanet] 102 / 7739
28
 (HPO:0100242) Sarcoma Occasional [Orphanet] 27 / 7739
29
 (MedDRA:10046752) Urticaria pigmentosa 3 / 7739
30
 (OMIM) Bullous mastocytosis 2 / 7739
31
 (OMIM) Cutaneous mastocytosis 3 / 7739
32
 (OMIM) Hyperpigmented macules or papules showing erythema or edema on trauma 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM The cutaneous manifestation is termed urticaria pigmentosa. Generalized involvement, which may be fatal, is sometimes observed. Burgoon et al. (1968) observed the disorder in father and daughter. Selmanowitz et al. (1970) described cutaneous mastocytosis in 8 females in ...
Molecular genetics OMIM Rosbotham et al. (1999) identified 3 sibs with urticaria pigmentosa. They pointed out that sporadic nonfamilial cases of urticaria pigmentosa had been related to mutations in the KIT gene (164920). Using 7 microsatellite repeat markers spanning an 8-cM ...