KEGG   DISEASE: Growth delay due to insulin-like growth factor I resistance
Entry
H01274                      Disease                                

Name
Growth delay due to insulin-like growth factor I resistance;
IGF-I resistance
Description
Growth delay due to IGF-I resistance is characterised by variable prenatal and postnatal growth retardation and elevated serum IGF-I levels. It has been described that the defects in the IGF-IR gene cause postnatal growth failure.
Category
Endocrine disease
Brite
Human diseases [BR:br08402]
 Endocrine and metabolic diseases
  Hypothalamus and pituitary gland diseases
   H01274  Growth delay due to insulin-like growth factor I resistance
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Endocrine diseases
   Disorders of the pituitary hormone system
    5A61  Hypofunction or certain specified disorders of pituitary gland
     H01274  Growth delay due to insulin-like growth factor I resistance
Pathway
hsa04114  Oocyte meiosis
hsa04510  Focal adhesion
hsa04520  Adherens junction
hsa04730  Long-term depression
hsa04914  Progesterone-mediated oocyte maturation
Network
  Element
N00914  Mutation-inactivated IGF1R to RAS-ERK signaling pathway
Gene
IGF1R [HSA:3480] [KO:K05087]
Other DBs
ICD-11: 5A61.0
ICD-10: E34.3
MeSH: C564816
OMIM: 270450
Reference
  Authors
Abuzzahab MJ, Schneider A, Goddard A, Grigorescu F, Lautier C, Keller E, Kiess W, Klammt J, Kratzsch J, Osgood D, Pfaffle R, Raile K, Seidel B, Smith RJ, Chernausek SD
  Title
IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation.
  Journal
N Engl J Med 349:2211-22 (2003)
DOI:10.1056/NEJMoa010107
Reference
  Authors
Kawashima Y, Kanzaki S, Yang F, Kinoshita T, Hanaki K, Nagaishi J, Ohtsuka Y, Hisatome I, Ninomoya H, Nanba E, Fukushima T, Takahashi S
  Title
Mutation at cleavage site of insulin-like growth factor receptor in a short-stature child born with intrauterine growth retardation.
  Journal
J Clin Endocrinol Metab 90:4679-87 (2005)
DOI:10.1210/jc.2004-1947
LinkDB

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