ODCs

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1 OMIM reference -
1 associated gene
14 signs/symptoms

PROTEIN INTERACTIONS: 1

3 OMIM references -
3 associated genes
No signs/symptoms info

Growth delay due to insulin-like growth factor I resistance

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	IGF1R	(0.63)	HNRNPA2B1

Citations in the biomedical literature:

Growth delay due to insulin-like growth factor I resistance		Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
	Synonym(s): - Resistance to IGF-1		Synonym(s): - IBMPFD - Limb-girdle muscular dystrophy with Paget disease of bone - Pagetoid amyotrophic lateral sclerosis - Pagetoid neuroskeletal syndrome

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

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Diseases of the nervous system -

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

	External references: 1 OMIM reference - No MeSH references		External references: 3 OMIM references - 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
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
(no data available)