ODCs

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1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
14 signs/symptoms

Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency

Growth delay due to insulin-like growth factor I resistance


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SH2B1	(0.63)	IGF1R

Citations in the biomedical literature:

Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency		Growth delay due to insulin-like growth factor I resistance
	Synonym(s): (no synonyms)		Synonym(s): - Resistance to IGF-1

	Classification (Orphanet): - Rare endocrine disease - Rare genetic disease		Classification (Orphanet): - Rare endocrine disease - Rare genetic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal dominant

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

Growth delay due to insulin-like growth factor I resistance
	Very frequent - Autosomal dominant inheritance - Autosomal recessive inheritance - Chromosomal or genetic anomaly - Intrauterine growth retardation - Short stature / dwarfism / nanism Frequent - Abnormally placed nipples - Broad nasal root - Everted lower lip - Intellectual deficit / mental / psychomotor retardation / learning disability - Microcephaly - Pectus excavatum - Philtrum flat / large / featureless / absent cupidon bows - Short hand / brachydactyly - Thin / retracted lips
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
(no data available)