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Bullous diffuse cutaneous mastocytosis
1 associated gene
7 signs/symptoms
PROTEIN INTERACTIONS: 1
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
1 associated gene
No signs/symptoms info
Bullous diffuse cutaneous mastocytosis
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

KIT
(UniProt - OMIM)
 STAT1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
KIT
(0.79)
STAT1


Citations in the biomedical literature:


Bullous diffuse cutaneous mastocytosis
KIT
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1



Bullous diffuse cutaneous mastocytosis
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

Synonym(s):
- Bullous DCM
Synonym(s):
- MSMD due to partial STAT1 deficiency
- MSMD due to partial signal transducer and activator of transcription 1 deficiency
- Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency
Classification (Orphanet):
- Rare allergic disease
- Rare hematologic disease
- Rare oncologic disease
- Rare skin disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
External references:
No OMIM references
No MeSH references
Bullous diffuse cutaneous mastocytosis

Very frequent
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Mastocytosis
- Pruritus / itching
- Urticaria
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Occasional
- Collapse / sudden death / cardiac arrest / cardiorespiratory arrest


Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

(no data available)