ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
14 signs/symptoms

Carpenter syndrome

Growth delay due to insulin-like growth factor I resistance

MEGF8	(UniProt - OMIM)		IGF1R	(UniProt - OMIM)
RAB23	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MEGF8	(0.63)	IGF1R

Citations in the biomedical literature:

Carpenter syndrome		Growth delay due to insulin-like growth factor I resistance
	Synonym(s): - ACPS 2 - Acrocephalopolysyndactyly type 2		Synonym(s): - Resistance to IGF-1

	Classification (Orphanet): - Rare bone disease - 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: 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: unknown Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal dominant

	External references: 2 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
Carpenter syndrome
(no data available)