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Opsismodysplasia

1 OMIM reference -
1 associated gene
27 signs/symptoms

PROTEIN INTERACTIONS: 1

Hyperinsulinism due to INSR deficiency

1 OMIM reference -
1 associated gene
No signs/symptoms info

Opsismodysplasia

Hyperinsulinism due to INSR deficiency

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	INPPL1	(0.82)	INSR

Citations in the biomedical literature:

Opsismodysplasia		Hyperinsulinism due to INSR deficiency
	Synonym(s): (no synonyms)		Synonym(s): - Hyperinsulinemic hypoglycemia due to INSR deficiency - Hyperinsulinemic hypoglycemia due to insulin receptor deficiency

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - 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: 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: adolescence / young Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C537122		External references: 1 OMIM reference - No MeSH references

Opsismodysplasia
	Very frequent - Abnormal vertebral size / shape - Autosomal recessive inheritance - Delayed bone age - Depressed nasal bridge - Epiphyseal anomaly - Frontal bossing / prominent forehead - Lack / delayed ossification of spine / vertebrae - Large fontanelle / delayed fontanelle closure - Macrocephaly / macrocrania / megalocephaly / megacephaly - Metaphyseal anomaly - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Rhizomelic micromelia - Short hand / brachydactyly - Short stature / dwarfism / nanism - Short / small nose - Tapered fingers Frequent - Brachycephaly / flat occiput - Hypotonia - Repeat respiratory infections Occasional - Blue sclerae - Broad / bifid thumb - Hepatomegaly / liver enlargement (excluding storage disease) - Narrow rib cage / thorax - Pectus excavatum - Restricted joint mobility / joint stiffness / ankylosis - Splenomegaly
Hyperinsulinism due to INSR deficiency
(no data available)