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GENATLAS PHENOTYPE

last update : 13/07/2006

Symbol	RMS
Location	19p13.2
Name	Rabson-Mendenhall syndrome
Other name(s)	pineal hyperplasia, insulin-resistant diabetes mellitus and somatic abnormalities
Corresponding gene	INSR
Other symbol(s)	NIDDM14
Main clinical features	growth retardation, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, premature and dysplastic dentition, coarse facial features, paradoxical fasting hypoglycemia and post-prandial hyperglycemia, extreme hyperinsulinemia and pineal hyperplasia
Genetic determination	autosomal recessive
Function/system disorder	metabolism/carbohydrates
Type	disease

Gene product

Name	insulin receptor (INSR)

Remark(s)