KEGG   DISEASE: Growth hormone insensitivity with immunodeficiencyHelp
Entry
H00931                      Disease                                

Name
Growth hormone insensitivity with immunodeficiency
Description
Growth hormone insensitivity with immunodeficiency is a combined phenotype of growth hormone insensitivity that resembles Laron syndrome and immunodeficiency. Homozygous inactivating mutation in the STAT5b, a component of the GH signaling pathway, leads to a complete absence of protein expression.
Category
Musculoskeletal disease; Primary immunodeficiency
Brite
Human diseases [BR:br08402]
 Immune system diseases
  Primary immunodeficiency
   H00931  Growth hormone insensitivity with immunodeficiency
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
     H00931  Growth hormone insensitivity with immunodeficiency
BRITE hierarchy
Pathway
hsa04012  ErbB signaling pathway
hsa04062  Chemokine signaling pathway
hsa04630  JAK-STAT signaling pathway
Gene
STAT5B [HSA:6777] [KO:K11224]
Comment
Laron syndrome is described in H00254.
Other DBs
ICD-11: 5A61.0
ICD-10: D82.8 E34.3
MeSH: C537871
OMIM: 245590
Reference
  Authors
Bernasconi A, Marino R, Ribas A, Rossi J, Ciaccio M, Oleastro M, Ornani A, Paz R, Rivarola MA, Zelazko M, Belgorosky A
  Title
Characterization of immunodeficiency in a patient with growth hormone insensitivity secondary to a novel STAT5b gene mutation.
  Journal
Pediatrics 118:e1584-92 (2006)
DOI:10.1542/peds.2005-2882
Reference
  Authors
Walenkamp MJ, Vidarsdottir S, Pereira AM, Karperien M, van Doorn J, van Duyvenvoorde HA, Breuning MH, Roelfsema F, Kruithof MF, van Dissel J, Janssen R, Wit JM, Romijn JA
  Title
Growth hormone secretion and immunological function of a male patient with a homozygous STAT5b mutation.
  Journal
Eur J Endocrinol 156:155-65 (2007)
DOI:10.1530/eje.1.02327
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