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)
  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) 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
ICD-10: E23.0
MeSH: D004393
OMIM: 262400 613038 262500 312000 262650 615925 618157 618160
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
  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
  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
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

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