KEGG DISEASE: Growth hormone deficiency

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

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

» Japanese version

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Network (5)   
   KEGG NETWORK (2)   
   KEGG VARIANT (3)   
Disease (8)   
   OMIM (8)   
Drug (5)   
   KEGG DRUG (5)   
Gene (27)   
   KEGG ORTHOLOGY (13)   
   KEGG GENES (14)   
Literature (8)   
   PubMed (8)   
All databases (53)   

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