Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities

Alternative Names

  • Rabson-Mendenhall Syndrome
  • Mendenhall Syndrome

Associated Genes

Insulin Receptor
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Diabetes mellitus

OMIM Number

262190

Mode of Inheritance

Autosomal recessive

Gene Map Locus

19p13.2

Description

Rabson-Mendenhall Syndrome is rare syndrome of extreme insulin resistance.  It is characterized by severe insulin resistance leading to postprandial hyperglycemia and fasting hypoglycemia.  The onset of the disease is very early, with affected patients experiencing intrauterine and postnatal growth retardation.  They suffer from pineal hyperplasia, impaired linear growth, fat and muscle tissue hypoplasia, abnormal dentition, and ectodermal tissue overgrowth. 

Diagnosis of the condition is based on the findings of fasting hypoglycemia, postprandial hyperglycemia, and hyperinsulinemia.  Differential diagnoses include the more severe Donohue Syndrome and the clinically less severe type A insulin resistance diabetes mellitus with acanthosis nigricans (Iran Type A).  Treatment is usually with high doses of insulin and/or recombinant IGF1.  Most patients tend to die before reaching their 30s due to diabetic ketoacidosis.  

Molecular Genetics

Rabson-Mendenhall Syndrome is transmitted as an autosomal recessive trait.  Mutations in the INSR gene are causal for this condition.  The INSR gene codes for the human insulin receptor, which is a critical component in the insulin receptor signaling pathway.  This pathway has many regulatory roles in numerous cellular contexts, such as proliferation, differentiation, growth, and survival.  INSR mutations resulting in Rabson-Mendenhall Syndrome have been shown to affect the number of mature receptors present on a cell, the affinity of these receptors for binding of insulin, and/or tyrosine kinase activity.  

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
262190.1.1United Arab EmiratesMaleYes Short stature; Coarse facial features; ...NM_000208.4:c.421C>THomozygousAutosomal, RecessiveBastaki et al. 2016
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