KEGG   DISEASE: H00719Help
Entry
H00719                      Disease                                

Name
Leprechaunism;
Donohue syndrome
Description
Leprechaunism (Donohue syndrome) is an autosomal recessive disorder of insulin-resistance characterized by intrauterine and postnatal growth retardation, acanthosis nigricans, lipoatrophy, and genitomegaly. The disease is known as leprechaunism because infants with the disease show an elf-like face and short stature.
Category
Developmental disorder; Endocrine disease
Brite
Human diseases [BR:br08402]
 Other congenital disorders
  Congenital disorders of development
   H00719  Leprechaunism
Human diseases in ICD-10 classification [BR:br08403]
 4. Endocrine, nutritional and metabolic diseases (E00-E90)
  E10-E14  Diabetes mellitus
   E11  Non-insulin-dependent diabetes mellitus
    H00719  Leprechaunism
  E20-E35  Disorders of other endocrine glands
   E34  Other endocrine disorders
    H00719  Leprechaunism
BRITE hierarchy
Pathway
Adherens junction
Insulin signaling pathway  
Type II diabetes mellitus  
Aldosterone-regulated sodium reabsorption
Gene
INSR [HSA:3643] [KO:K04527]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
PMID:9128805 (description)
  Authors
Kosztolanyi G
  Title
Leprechaunism/Donohue syndrome/insulin receptor gene mutations: a syndrome delineation story from clinicopathological description to molecular understanding.
  Journal
Eur J Pediatr 156:253-5 (1997)
Reference
PMID:9703342 (description, gene)
  Authors
Whitehead JP, Soos MA, Jackson R, Tasic V, Kocova M, O'Rahilly S
  Title
Multiple molecular mechanisms of insulin receptor dysfunction in a patient with Donohue syndrome.
  Journal
Diabetes 47:1362-4 (1998)

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