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PROTEIN INTERACTIONS: 1
1 associated gene
7 signs/symptoms
Growth retardation-mild developmental delay-chronic hepatitis syndrome
Bullous diffuse cutaneous mastocytosis

SH2B3 KIT


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SH2B3
(0.89)
KIT



Citations in the biomedical literature:


Growth retardation-mild developmental delay-chronic hepatitis syndrome
SH2B3
Bullous diffuse cutaneous mastocytosis
KIT



Growth retardation-mild developmental delay-chronic hepatitis syndrome
Bullous diffuse cutaneous mastocytosis

Synonym(s):
(no synonyms)

Synonym(s):
- Bullous DCM

Classification (Orphanet):
- Rare genetic disease
- Rare hepatic disease
Classification (Orphanet):
- Rare allergic disease
- Rare hematologic disease
- Rare oncologic disease
- Rare skin disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic

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


Growth retardation-mild developmental delay-chronic hepatitis syndrome

(no data available)