Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Rabson-Mendenhall syndrome is an autosomal recessive disorder caused by a loss-of-function mutation of the insulin receptor. An insulin resistent diabetes mellitus ensues further characterized by hyperinsulinemia and various somatic abnormalities. There are striking similarities between Rabson-Mendenhall and Donohue syndromes. The latter being published shortly before.
The disorder was first described by Rabson and Mendenhall in 1956. The found a family of 3 affected children who later died of ketoacidosis.[Error: Macro 'ref' doesn't exist]
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West RJ et al. (1975) Familial insulin-resistant diabetes, multiple somatic anomalies, and pineal hyperplasia.
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Taylor SI et al. (1983) Decreased insulin binding to cultured cells from a patient with the Rabson-Mendenhall syndrome: dichotomy between studies with cultured lymphocytes and cultured fibroblasts.
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Barnes ND et al. (1974) Insulin resistance, skin changes, and virilization: a recessively inherited syndrome possibly due to pineal gland dysfunction.
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Moncada VY et al. (1986) Insulin-receptor biosynthesis in cultured lymphocytes from an insulin-resistant patient (Rabson-Mendenhall syndrome). Evidence for defect before insertion of receptor into plasma membrane.
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Accili D et al. (1989) A mutation in the insulin receptor gene that impairs transport of the receptor to the plasma membrane and causes insulin-resistant diabetes.
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RABSON SM et al. (1956) Familial hypertrophy of pineal body, hyperplasia of adrenal cortex and diabetes mellitus; report of 3 cases.
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Orphanet article Orphanet ID 769
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OMIM.ORG article Omim 262190
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Wikipedia article Wikipedia EN (Rabson–Mendenhall_syndrome)
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