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Growth retardation-mild developmental delay-chronic hepatitis syndrome
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
1 associated gene
4 signs/symptoms
Growth retardation-mild developmental delay-chronic hepatitis syndrome
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease

SH2B3
(UniProt - OMIM)
 KIT
(UniProt - OMIM)

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
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
KIT



Growth retardation-mild developmental delay-chronic hepatitis syndrome
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease

Classification (Orphanet):
- Rare genetic disease
- Rare hepatic disease
Classification (Orphanet):
- Rare hematologic disease
- Rare oncologic disease
Classification (ICD10):
(no data available)
Classification (ICD10):
- Neoplasms -
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: 1-9 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: sporadic
External references:
No OMIM references
No MeSH references
External references:
No OMIM references
No MeSH references
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease

Very frequent
- Acute leukemia
- Eosinophils anomalies / hypereosinophilia
- Mastocytosis
- Myeloproliferative syndrome / chronic leukemia



Growth retardation-mild developmental delay-chronic hepatitis syndrome

(no data available)