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 (IGF1RES) 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 and metabolic disease
Brite
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 other specified disorders of pituitary gland
     H01274  Growth delay due to insulin-like growth factor I resistance
Pathway-based classification of diseases [BR:br08402]
 Endocrine system
  nt06324  GHRH-GH-IGF signaling
   H01274  Growth delay due to insulin-like growth factor I resistance
Pathway
hsa01522  Endocrine resistance
hsa04730  Long-term depression
hsa04114  Oocyte meiosis
hsa04914  Progesterone-mediated oocyte maturation
Network
nt06324 GHRH-GH-IGF signaling
Gene
IGF1R [HSA:3480] [KO:K05087]
Other DBs
ICD-11: 5A61.0
ICD-10: E34.3
MeSH: C564816
OMIM: 270450
Reference
PMID:14657428 (IGF1R)
  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
PMID:15928254 (IGF1R)
  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
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