KEGG   DISEASE: Kowarski syndrome
Entry
H02039                      Disease                                
Name
Kowarski syndrome
  Supergrp
Growth hormone deficiency [DS:H00254]
Hypopituitarism [DS:H01700]
Description
Kowarski syndrome is short stature associated with bioinactive growth hormone (GH). It is clinically characterized by normal or slightly increased GH secretion, pathologically low IGF-I levels, and normal catch-up growth on GH-replacement therapy. Missense mutations in the GH1 gene leading to Kowarski syndrome have been reported.
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
     H02039  Kowarski syndrome
Pathway
hsa04935  Growth hormone synthesis, secretion and action
hsa04060  Cytokine-cytokine receptor interaction
hsa04151  PI3K-Akt signaling pathway
hsa04080  Neuroactive ligand-receptor interaction
hsa04630  JAK-STAT signaling pathway
Gene
GH1 [HSA:2688] [KO:K05438]
Other DBs
ICD-11: 5A61.0
MeSH: C537505
OMIM: 262650
Reference
PMID:15713716
  Authors
Besson A, Salemi S, Deladoey J, Vuissoz JM, Eble A, Bidlingmaier M, Burgi S, Honegger U, Fluck C, Mullis PE
  Title
Short stature caused by a biologically inactive mutant growth hormone (GH-C53S).
  Journal
J Clin Endocrinol Metab 90:2493-9 (2005)
DOI:10.1210/jc.2004-1838
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