KEGG   DISEASE: Rabson-Mendenhall syndromeHelp
Entry
H00942                      Disease                                

Name
Rabson-Mendenhall syndrome
Description
Rabson-Mendenhall syndrome (RMS) is a rare disorder involving severe insulin resistance due to mutations in the insulin receptor (INSR) gene. Obligatory symptoms are extreme hyperinsulinemia and profound insulin-resistance diabetes. Additional characteristics of RMS can include acanthosis nigricans, polycystic ovarian disease, hirsutism, precocity, pineal hyperplasia, and thick nails.
Category
Endocrine disease
Brite
Human diseases [BR:br08402]
 Endocrine and metabolic diseases
  Diabetes
   H00942  Rabson-Mendenhall syndrome
Human diseases in ICD-10 classification [BR:br08403]
 4. Endocrine, nutritional and metabolic diseases (E00-E90)
  E10-E14  Diabetes mellitus
   E13  Other specified diabetes mellitus
    H00942  Rabson-Mendenhall syndrome
BRITE hierarchy
Pathway
Adherens junction
Insulin signaling pathway
Type II diabetes mellitus
Aldosterone-regulated sodium reabsorption
Gene
INSR [HSA:3643] [KO:K04527]
Comment
For leprechaunism, a disorder with INSR mutations,  see H00719.
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
PMID:21869538 (description, gene)
  Authors
Jiang S, Fang Q, Zhang F, Wan H, Zhang R, Wang C, Bao Y, Zhang L, Ma X, Lu J, Gao F, Xiang K, Jia W
  Title
Functional characterization of insulin receptor gene mutations contributing to Rabson-Mendenhall syndrome - phenotypic heterogeneity of insulin receptor gene mutations.
  Journal
Endocr J 58:931-40 (2011)
DOI:10.1507/endocrj.EJ11-0032
Reference
PMID:15232309 (description, gene)
  Authors
Musso C, Cochran E, Moran SA, Skarulis MC, Oral EA, Taylor S, Gorden P
  Title
Clinical course of genetic diseases of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30-year prospective.
  Journal
Medicine (Baltimore) 83:209-22 (2004)
DOI:10.1097/01.md.0000133625.73570.54
Reference
PMID:18717867 (description)
  Authors
Parveen BA, Sindhuja R
  Title
Rabson-Mendenhall syndrome.
  Journal
Int J Dermatol 47:839-41 (2008)
DOI:10.1111/j.1365-4632.2008.03591.x

» Japanese version

DBGET integrated database retrieval system