Insulin receptor (INSR) is the gene responsible for a series of insulin resistance diseases, including hyperinsulinemic hypoglycemia, familial 5 [Online Mendelian Inheritance in Man (OMIM)#609968], Donohue syndrome [(DS), also called leprechaunism; OMIM#246200] and Rabson-Mendenhall syndrome [(RMS); OMIM#262190].
Impaired growth in Rabson-Mendenhall syndrome: lack of effect of growth hormone and insulin-like growth factor-I.
Mutation of the insulin receptor gene is responsible for Rabson-Mendenhall syndrome (RMS) which is an autosomal recessive disorder.
Clinical course of genetic diseases of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30-year prospective.
is another phenotype of this condition.
Such extreme insulin resistance is seen in patients with Donohue syndrome (or leprechaunism [104, 105]) and Rabson-Mendenhall syndrome .
Moran et al., "Clinical course of genetic diseases of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30-year prospective," Medicine, vol.
Differential diagnosis in the infant include: short syndrome, neonatal progeroid syndrome, neurometabolic lysosomal storage disorder (Gaucher type 2, Krabbe disease), Russell diencephalic syndrome; in older children, Dunningan lipodistrophy, Rabson-Mendenhall syndrome
, insulin-dependent diabetes mellitus; and in adults, Barraquer-Simons syndrome, AIDS, partial lipodistrophy and Lawrence syndrome (9).
Rabson-Mendenhall syndrome (RMS) is an intermediate form of insulin resistance syndrome since the function of insulin receptor is only moderately reduced.
Two novel insulin receptor gene mutations in a patient with Rabson-Mendenhall syndrome: the first Korean case confirmed by biochemical, and molecular evidence.
Rabson-Mendenhall syndrome. Pediatr Dermatol 2002;19:267-270.
(RMS) is an autosomal recessive disorder resulting in severe insulin resistance due to defects in signaling through the insulin receptor.