KEGG   DISEASE: Growth hormone deficiencyHelp
Entry
H00254                      Disease                                

Name
Growth hormone deficiency;
Pituitary dwarfism
  Subgroup
Isolated growth hormone deficiency (IGHD) [DS:H02035]
Combined pituitary hormone deficiency (CPHD) [DS:H02036]
Laron syndrome (PD2) [DS:H02037]
X-linked panhypopituitarism (PHPX) [DS:H02038]
Kowarski syndrome [DS:H02039]
  Supergrp
Male hypogonadism [DS:H02027]
Description
Growth hormone deficiency, formerly known as Pituitary dwarfism, is a heterogeneous condition characterized by growth retardation with short statue and normal body proportions caused by growth hormone deficiency.
Category
Endocrine and metabolic disease
Brite
Human diseases [BR:br08402]
 Endocrine and metabolic diseases
  Hypothalamus and pituitary gland diseases
   H00254  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
     H00254  Growth hormone deficiency
BRITE hierarchy
Gene
(IGHD1A/1B/2) GH1 [HSA:2688] [KO:K05438]
(IGHD1B) GHRHR [HSA:2692] [KO:K04584]
(IGHD3) BTK [HSA:695] [KO:K07370]
(CPHD1) POU1F1 [HSA:5449] [KO:K09363]
(CPHD2) PROP1 [HSA:5626] [KO:K09327]
(CPHD3) LHX3 [HSA:8022] [KO:K09374]
(CPHD4) LHX4 [HSA:89884] [KO:K09374]
(CPHD5) HESX1 [HSA:8820] [KO:K09354]
(CPHD6) OTX2 [HSA:5015] [KO:K18490]
(PD2) GHR [HSA:2690] [KO:K05080]
(PHPX) SOX3 [HSA:6658] [KO:K09267]
Drug
Somatropin [DR:D02691]
Mecasermin [DR:D03297]
Other DBs
ICD-11: 5A61.0 5A61.3
ICD-10: E23.0
MeSH: D004393
OMIM: 262400 613038 262500 312000 262650
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
Mullis PE
  Title
Genetics of growth hormone deficiency.
  Journal
Endocrinol Metab Clin North Am 36:17-36 (2007)
DOI:10.1016/j.ecl.2006.11.010
Reference
  Authors
Hayashi Y, Kamijo T, Ogawa M, Seo H
  Title
Familial isolated growth hormone deficiency: genetics and pathophysiology.
  Journal
Endocr J 49:265-72 (2002)
DOI:10.1507/endocrj.49.265
Reference
PMID:9799079
  Authors
Procter AM, Phillips JA 3rd, Cooper DN
  Title
The molecular genetics of growth hormone deficiency.
  Journal
Hum Genet 103:255-72 (1998)
DOI:10.1007/s004390050815
Reference
PMID:7868072
  Authors
Perez Jurado LA, Argente J
  Title
Molecular basis of familial growth hormone deficiency.
  Journal
Horm Res 42:189-97 (1994)
DOI:10.1159/000184192
Reference
  Authors
Steuerman R, Shevah O, Laron Z
  Title
Congenital IGF1 deficiency tends to confer protection against post-natal development of malignancies.
  Journal
Eur J Endocrinol 164:485-9 (2011)
DOI:10.1530/EJE-10-0859
Reference
  Authors
Turton JP, Reynaud R, Mehta A, Torpiano J, Saveanu A, Woods KS, Tiulpakov A, Zdravkovic V, Hamilton J, Attard-Montalto S, Parascandalo R, Vella C, Clayton PE, Shalet S, Barton J, Brue T, Dattani MT
  Title
Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency.
  Journal
J Clin Endocrinol Metab 90:4762-70 (2005)
DOI:10.1210/jc.2005-0570

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