KEGG   DISEASE: Rabson-Mendenhall syndrome
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 and metabolic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Endocrine diseases
   Other disorders of glucose regulation or pancreatic internal secretion
    5A44  Insulin-resistance syndromes
     H00942  Rabson-Mendenhall syndrome
Pathway-based classification of diseases [BR:br08402]
 Endocrine system
  nt06325  Hormone/cytokine signaling
   H00942  Rabson-Mendenhall syndrome
Pathway
hsa04931  Insulin resistance
hsa04910  Insulin signaling pathway
hsa04923  Regulation of lipolysis in adipocytes
Network
nt06325 Hormone/cytokine signaling
Gene
INSR [HSA:3643] [KO:K04527]
Comment
For leprechaunism, a disorder with INSR mutations, see H00719.
Other DBs
ICD-11: 5A44
ICD-10: E13
MeSH: D056731
OMIM: 262190
Reference
PMID:18717867
  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
Reference
PMID:21869538 (INSR)
  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

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Drug (1)   
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Gene (2)   
   KEGG ORTHOLOGY (1)   
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Literature (2)   
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