KEGG   DISEASE: Growth hormone deficiency
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]
Growth hormone deficiency, isolated partial (GHDP)
Growth hormone insensitivity, partial (GHIP)
  Supergrp
Hypopituitarism [DS:H01700]
Description
Growth hormone deficiency, formerly known as Pituitary dwarfism, is a heterogeneous condition characterized by growth retardation with short stature and normal body proportions caused by growth hormone deficiency.
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
     H00254  Growth hormone deficiency
Pathway-based classification of diseases [BR:br08402]
 Immune system
  nt06537  TCR/BCR signaling
   H00254  Growth hormone deficiency
 Endocrine system
  nt06324  GHRH-GH-IGF signaling
   H00254  Growth hormone deficiency
Pathway
hsa04662  B cell receptor signaling pathway
hsa04935  Growth hormone synthesis, secretion and action
hsa04080  Neuroactive ligand-receptor interaction
Network
nt06324 GHRH-GH-IGF signaling
nt06537 TCR/BCR signaling
Gene
(IGHD1A/1B/2) GH1 [HSA:2688] [KO:K05438]
(IGHD3) BTK [HSA:695] [KO:K07370]
(IGHD4) GHRHR [HSA:2692] [KO:K04584]
(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]
(CPHD7/IGHD5) RNPC3 [HSA:55599] [KO:K13157]
(CPHD8) ROBO1 [HSA:6091] [KO:K06753]
(PD2/GHIP) GHR [HSA:2690] [KO:K05080]
(PHPX) SOX3 [HSA:6658] [KO:K09267]
(GHDP) GHSR [HSA:2693] [KO:K04284]
Drug
Somatropin [DR:D02691]
Somapacitan [DR:D11194]
Somatrogon [DR:D10990]
Lonapegsomatropin [DR:D11486]
Other DBs
ICD-11: 5A61.0 5A61.3
MeSH: D004393
OMIM: 615925 604271
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
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:12201208
  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:17965963
  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
PMID:17336732
  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
PMID:8488849 (GHR)
  Authors
Berg MA, Argente J, Chernausek S, Gracia R, Guevara-Aguirre J, Hopp M, Perez-Jurado L, Rosenbloom A, Toledo SP, Francke U
  Title
Diverse growth hormone receptor gene mutations in Laron syndrome.
  Journal
Am J Hum Genet 52:998-1005 (1993)
Reference
PMID:12428212 (SOX3)
  Authors
Laumonnier F, Ronce N, Hamel BC, Thomas P, Lespinasse J, Raynaud M, Paringaux C, Van Bokhoven H, Kalscheuer V, Fryns JP, Chelly J, Moraine C, Briault S
  Title
Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency.
  Journal
Am J Hum Genet 71:1450-5 (2002)
DOI:10.1086/344661
Reference
PMID:16511605 (GHSR)
  Authors
Pantel J, Legendre M, Cabrol S, Hilal L, Hajaji Y, Morisset S, Nivot S, Vie-Luton MP, Grouselle D, de Kerdanet M, Kadiri A, Epelbaum J, Le Bouc Y, Amselem S
  Title
Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature.
  Journal
J Clin Invest 116:760-8 (2006)
DOI:10.1172/JCI25303
Reference
PMID:7565946 (GHIP)
  Authors
Goddard AD, Covello R, Luoh SM, Clackson T, Attie KM, Gesundheit N, Rundle AC, Wells JA, Carlsson LM
  Title
Mutations of the growth hormone receptor in children with idiopathic short stature. The Growth Hormone Insensitivity Study Group.
  Journal
N Engl J Med 333:1093-8 (1995)
DOI:10.1056/NEJM199510263331701

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