ODCs

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1 OMIM reference -
1 associated gene
27 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
9 signs/symptoms

Rabson-Mendenhall syndrome

Insulin-resistance syndrome type A

INSR

Citations in the biomedical literature:

Rabson-Mendenhall syndrome		Insulin-resistance syndrome type A

	Classification (Orphanet): - Rare endocrine disease - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare endocrine disease - Rare genetic disease - Rare infertility

	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: childhood Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: D056731		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Hirsutism / hypertrichosis / Increased body hair

Rabson-Mendenhall syndrome		Insulin-resistance syndrome type A
	Very frequent - Acanthosis nigricans - Acromegaly - Anomalies of teeth and dentition - Anomalies of the abdominal wall - Autosomal dominant inheritance - Coarse face - Diabetes mellitus - Dysplastic / thick / grooved fingernails - Female pseudohermaphrodism / virilisation / clitoridomegaly - Intrauterine growth retardation - 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 - Short hand / brachydactyly - Short stature / dwarfism / nanism - Thick skin / pachydermia / orange skin - Thyroid anomalies Occasional - Abnormal / polycystic ovaries - Megaureter / hydronephrosis / pyeloureteral junction syndrome		Very frequent - Advanced bone age - Autosomal recessive inheritance - Diffuse / generalised skin hyperpigmentation / melanoderma - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Insulin-independent / type 2 diabetes - Late puberty / hypogonadism / hypogenitalism - Subcutaneous nodules / lipomas / tumefaction / swelling - Tall stature / gigantism / growth acceleration