KEGG   DISEASE: Isolated growth hormone deficiency
Entry
H02035                      Disease                                

Name
Isolated growth hormone deficiency
  Supergrp
Growth hormone deficiency [DS:H00254]
Hypopituitarism [DS:H01700]
Description
Isolated growth hormone deficiency (IGHD) is conditions associated with childhood growth failure due to lack of growth hormone (GH) action, and not necessarily associated with other pituitary hormone deficiencies or with an organic lesion. About 5-30% of patients are found to have affected first-degree relatives, suggesting genetic causes. IGHD has been classified into three types. IGHD type 1, characterized by autosomal recessive transmission, is further separated into subtypes 1A and 1B. The phenotype of IGHD type 1B is milder than that of IGHD type 1A. IGHD type 2 is inherited in an autosomal dominant pattern. IGHD type 3 is an X-linked recessive disorder with a highly variable phenotype. Some individuals have an associated agammaglobulinemia.
Category
Endocrine disease
Brite
Human diseases [BR:br08402]
 Endocrine and metabolic diseases
  Hypothalamus and pituitary gland diseases
   H02035  Isolated growth hormone deficiency
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
     H02035  Isolated growth hormone deficiency
Network
  Element
N00908  Mutation-inactivated GH to GH-Jak-STAT signaling pathway
N00911  Mutation-inactivated GHRHR to GHRHR-PKA-GH signaling pathway
Gene
(IGHD1A/1B/2) GH1 [HSA:2688] [KO:K05438]
(IGHD1B) GHRHR [HSA:2692] [KO:K04584]
(IGHD3) BTK [HSA:695] [KO:K07370]
Other DBs
ICD-11: 5A61.0
ICD-10: E23.0
MeSH: D004393
OMIM: 262400 612781 173100 307200
Reference
  Authors
Hernandez LM, Lee PD, Camacho-Hubner C
  Title
Isolated growth hormone deficiency.
  Journal
Pituitary 10:351-7 (2007)
DOI:10.1007/s11102-007-0073-3
Reference
  Authors
Hess O, Hujeirat Y, Wajnrajch MP, Allon-Shalev S, Zadik Z, Lavi I, Tenenbaum-Rakover Y
  Title
Variable phenotypes in familial isolated growth hormone deficiency caused by a G6664A mutation in the GH-1 gene.
  Journal
J Clin Endocrinol Metab 92:4387-93 (2007)
DOI:10.1210/jc.2007-0684
Reference
PMID:8013627
  Authors
Duriez B, Duquesnoy P, Dastot F, Bougneres P, Amselem S, Goossens M
  Title
An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency.
  Journal
FEBS Lett 346:165-70 (1994)
DOI:10.1016/0014-5793(94)00457-9
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