ODCs

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Growth delay due to insulin-like growth factor I resistance

1 OMIM reference -
1 associated gene
14 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4

SHORT syndrome

1 OMIM reference -
1 associated gene
40 signs/symptoms

Growth delay due to insulin-like growth factor I resistance

SHORT syndrome

IGF1R

(UniProt - OMIM)

PIK3R1

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	IGF1R	(0.86)	PIK3R1

Citations in the biomedical literature:

Growth delay due to insulin-like growth factor I resistance		SHORT syndrome
	Synonym(s): - Resistance to IGF-1		Synonym(s): - Aarskog-Ose-Pande syndrome - Lipodystrophy - Rieger anomaly - diabetes - Rieger anomaly - partial lipodystrophy

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

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

	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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537327


COMMON SIGNS	- Autosomal dominant inheritance - Broad nasal root - Short hand / brachydactyly - Short stature / dwarfism / nanism

Growth delay due to insulin-like growth factor I resistance		SHORT syndrome
	Very frequent - Autosomal recessive inheritance - Chromosomal or genetic anomaly - Intrauterine growth retardation Frequent - Abnormally placed nipples - Everted lower lip - Intellectual deficit / mental / psychomotor retardation / learning disability - Microcephaly - Pectus excavatum - Philtrum flat / large / featureless / absent cupidon bows - Thin / retracted lips		Very frequent - Aniridia / iris hypoplasia - Anterior chamber anomaly - Deepset eyes / enophthalmos - Hyperextensible joints / articular hyperlaxity - Inguinal / inguinoscrotal / crural hernia - Sensorineural deafness / hearing loss Frequent - Abnormal fat distribution / lipodystrophy - Anomalies of teeth and dentition - Complete / partial microdontia - Diabetes mellitus - Enamel anomaly - Face / facial anomalies - Glaucoma - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Insulin resistance - Megalocornea - Mid-facial hypoplasia / short / small midface - Pupillary anomalies / mydriasis / myosis / tonic pupil - Rippled skin - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Weight loss / loss of appetite / break in weight curve / general health alteration Occasional - Clinodactyly of fifth finger - Corneal clouding / opacity / vascularisation - Embryotoxon - Flat cheek bones / malar hypoplasia - Frontal bossing / prominent forehead - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hypertelorism - Iridocorneal dysgenesis / iridogoniodysgenesis - Micrognathia / retrognathia / micrognathism / retrognathism - Myotonia - Prominent supraorbital ridge - Telecanthus / canthal dystopy - Triangular face - Upper limb polydactyly / hexadactyly - Urinary / renal lithiasis / kidney stones / nephritic colic