KEGG DISEASE: Growth hormone insensitivity with immunodeficiency

DISEASE: Growth hormone insensitivity with immunodeficiency

エントリ

H00931

名称

Growth hormone insensitivity with immunodeficiency

概要

Growth hormone insensitivity with immunodeficiency (GHISID) 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.

カテゴリ

内分泌代謝疾患

階層分類

ICD-11 による疾患分類 [BR:jp08403]
05 内分泌, 栄養, 代謝の疾患
  内分泌疾患
   下垂体ホルモン系の疾患
    5A61  下垂体機能低下症またはその他の明示された下垂体の疾患
     H00931  Growth hormone insensitivity with immunodeficiency
パスウェイに基づく疾患分類 [BR:jp08402]
シグナル伝達
  nt06518  JAK-STAT シグナリング
   H00931  Growth hormone insensitivity with immunodeficiency

パスウェイ

hsa04630

JAK-STAT signaling pathway

ネットワーク

nt06518 JAK-STAT signaling

病因遺伝子

(GHISID1/2) STAT5B [HSA:6777] [KO:K11224]

Laron syndrome is described in H00254.

リンク

ICD-11:

5A61.0

MeSH:

C537871

OMIM:

245590 618985

文献

PMID:17030597

著者

Bernasconi A, Marino R, Ribas A, Rossi J, Ciaccio M, Oleastro M, Ornani A, Paz R, Rivarola MA, Zelazko M, Belgorosky A

タイトル

Characterization of immunodeficiency in a patient with growth hormone insensitivity secondary to a novel STAT5b gene mutation.

雑誌

Pediatrics 118:e1584-92 (2006)
DOI:10.1542/peds.2005-2882

文献

PMID:17287404

著者

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

タイトル

Growth hormone secretion and immunological function of a male patient with a homozygous STAT5b mutation.

雑誌

Eur J Endocrinol 156:155-65 (2007)
DOI:10.1530/eje.1.02327

文献

PMID:29844444

著者

Klammt J, Neumann D, Gevers EF, Andrew SF, Schwartz ID, Rockstroh D, Colombo R, Sanchez MA, Vokurkova D, Kowalczyk J, Metherell LA, Rosenfeld RG, Pfaffle R, Dattani MT, Dauber A, Hwa V

タイトル

Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation.

雑誌

Nat Commun 9:2105 (2018)
DOI:10.1038/s41467-018-04521-0

LinkDB

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