ODCs

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1 OMIM reference -
1 associated gene
27 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4

1 OMIM reference -
1 associated gene
14 signs/symptoms

Rabson-Mendenhall syndrome

Growth delay due to insulin-like growth factor I resistance


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	INSR	(0.52)	IGF1R

Citations in the biomedical literature:

Rabson-Mendenhall syndrome		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 - Rare skin 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: unknown 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: 1 OMIM reference - 1 MeSH reference: D056731		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance - Intrauterine growth retardation - Short hand / brachydactyly - Short stature / dwarfism / nanism

Rabson-Mendenhall syndrome		Growth delay due to insulin-like growth factor I resistance
	Very frequent - Acanthosis nigricans - Acromegaly - Anomalies of teeth and dentition - Anomalies of the abdominal wall - Coarse face - Diabetes mellitus - Dysplastic / thick / grooved fingernails - Female pseudohermaphrodism / virilisation / clitoridomegaly - Hirsutism / hypertrichosis / Increased body hair - Lanugo - Macropenis / megapenis / large penis - Premature eruption of teeth / natal teeth - Prognathism / prognathia Frequent - Coarse / thick hair - Dry / squaly skin / exfoliation - Peripheral neuropathy - Precocious puberty - Premature ageing - Proteinuria - Thick skin / pachydermia / orange skin - Thyroid anomalies Occasional - Abnormal / polycystic ovaries - Megaureter / hydronephrosis / pyeloureteral junction syndrome		Very frequent - Autosomal recessive inheritance - Chromosomal or genetic anomaly 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 - Thin / retracted lips