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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Distal 16p11.2 microdeletion syndrome
Hyperinsulinism due to INSR deficiency

SH2B1 INSR


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SH2B1
(0.9)
INSR



Citations in the biomedical literature:


Distal 16p11.2 microdeletion syndrome
SH2B1
Hyperinsulinism due to INSR deficiency
INSR



Distal 16p11.2 microdeletion syndrome
Hyperinsulinism due to INSR deficiency

Synonym(s):
- Distal del(16)(p11.2)
- Distal monosomy 16p11.2

Synonym(s):
- Hyperinsulinemic hypoglycemia due to INSR deficiency
- Hyperinsulinemic hypoglycemia due to insulin receptor deficiency

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.