MCID: GRW007
MIFTS: 46

Growth Hormone Deficiency malady

Rare diseases, Endocrine diseases categories

Aliases & Classifications for Growth Hormone Deficiency

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Sources:
41NIH Rare Diseases, 43Novoseek, 60UMLS
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Growth Hormone Deficiency, Aliases & Descriptions:

Name: Growth Hormone Deficiency 41 43
 
Somatotropin Deficiency 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Endocrine diseases


Summaries for Growth Hormone Deficiency

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NIH Rare Diseases:41 Growth hormone deficiency is characterized by abnormally short height due to lack (or shortage) of growth hormone. it can be congenital (present at birth) or acquired. most of the time, no single clear cause can be identified. most cases are identified in children. although it is uncommon, growth hormone deficiency may also be diagnosed in adults. too little growth hormone can cause short stature in children, and changes in muscle mass, cholesterol levels, and bone strength in adults. in adolescents, puberty may be delayed or absent. treatment involves growth hormone injections. last updated: 9/28/2011

MalaCards based summary: Growth Hormone Deficiency, also known as somatotropin deficiency, is related to isolated growth hormone deficiency and growth hormone deficiency, isolated, type ib. An important gene associated with Growth Hormone Deficiency is GH1 (growth hormone 1), and among its related pathways are Endochondral Ossification and G alpha (s) signalling events. The compounds somatuline and hcrh have been mentioned in the context of this disorder. Affiliated tissues include bone, pituitary and testes, and related mouse phenotypes are adipose tissue and reproductive system.

Wikipedia:63 Growth hormone deficiency (GHD) is a medical condition, caused by problems arising in the pituitary... more...

Related Diseases for Growth Hormone Deficiency

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Diseases related to Growth Hormone Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 243)
idRelated DiseaseScoreTop Affiliating Genes
1isolated growth hormone deficiency32.1POU1F1, GH1
2growth hormone deficiency, isolated, type ib31.5GHRHR, GH1
3turner syndrome31.3IGF1
4precocious puberty30.8GH1, POMC, IGF1
5prader-willi syndrome30.7IGF1, GH1, GHSR
6pituitary apoplexy30.7POMC
7hypoglycemia30.7GH1, GHRH, POMC, IGF1
8septooptic dysplasia30.6GH1, HESX1, POU1F1
9diabetes insipidus30.6POMC, GHRH
10cushing's syndrome30.5GH1, POMC
11empty sella syndrome30.4IGF1, POU1F1, GH1
12craniopharyngioma30.4GH1, POMC, IGF1
13acromegaly30.3IGF1, POMC, GHRH, GHRHR, GH1, GHSR
14amenorrhea30.2POMC, IGF1
15hyperprolactinemia30.2IGF1, POMC, GHRH, GH1
16obesity30.0GHSR, GH1, GHRH, HESX1, POMC, IGF1
17dwarfism30.0IGF1, POU1F1, GHRH, GHRHR, GH1
18hypogonadism30.0IGF1, POMC, POU1F1, GH1
19anorexia nervosa29.9GH1, GHRH, POMC, IGF1
20pituitary hypoplasia29.8SOX3, POU1F1, HESX1, GHRH, GHRHR
21hypopituitarism29.8POU1F1, HESX1, GHRH, GH1, POMC, SOX3
22prolactinoma29.3IGF1, POMC, POU1F1, GHRHR, GH1, GHSR
23pituitary adenoma29.2IGF1, POMC, POU1F1, GHRH, GHRHR, GH1
24adenoma29.2IGF1, POMC, POU1F1, GHRH, GHRHR, GH1
25hypothyroidism29.2GHSR, GH1, GHRHR, IGF1, POMC, POU1F1
26pituitary tumors28.8IGF1, POMC, POU1F1, GHRH, GHRHR, GH1
27insulin-like growth factor i10.9
28agammaglobulinemia and isolated hormone deficiency10.8
29growth hormone deficiency, isolated, type ia10.8
30growth hormone deficiency, isolated, type ii10.7
31brain injury10.6
32traumatic brain injury10.5
33thyroiditis10.5
34endotheliitis10.5
35agammaglobulinemia10.5
36mental retardation, x-linked, with isolated growth hormone deficiency10.5
37leukemia10.5
38pseudohypoparathyroidism10.5
39encephalopathy intracranial calcification growth hormone deficiency microcephaly retinal degeneration10.5
40zollinger-ellison syndrome10.4GHRH
41atherosclerosis10.4
42lymphocytic choriomeningitis10.4
43pituitary carcinoma10.4POMC
44growth hormone deficiency, isolated partial10.4
45silver-russell syndrome10.4
46cerebritis10.4
47lymphoblastic leukemia10.4
48mental retardation10.4
49blindness10.4
50x-linked intellectual disability with isolated growth hormone deficiency10.4

Graphical network of the top 20 diseases related to Growth Hormone Deficiency:



Diseases related to growth hormone deficiency

Symptoms for Growth Hormone Deficiency

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Drugs & Therapeutics for Growth Hormone Deficiency

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Drug clinical trials:

Search ClinicalTrials for Growth Hormone Deficiency

Search NIH Clinical Center for Growth Hormone Deficiency

Genetic Tests for Growth Hormone Deficiency

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Anatomical Context for Growth Hormone Deficiency

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MalaCards organs/tissues related to Growth Hormone Deficiency:

31
Bone, Pituitary, Testes, Brain, Thyroid, Endothelial, Skeletal muscle, Skin, Bone marrow, Heart, Liver, Eye, Kidney, Salivary gland, Breast, Uterus, Nk cells, Hypothalamus, Spinal cord

Animal Models for Growth Hormone Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Growth Hormone Deficiency:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.3IGF1, POMC, GHRHR, GH1, GHSR
2MP:00053897.6IGF1, SOX3, POU1F1, GHRH, GHRHR, GH1
3MP:00107687.3BTK, HESX1, POU1F1, POMC, SOX3, IGF1
4MP:00053877.0IGF1, POMC, POU1F1, GHRH, GHRHR, BTK
5MP:00053796.9GH1, IGF1, SOX3, POMC, POU1F1, HESX1
6MP:00036316.8IGF1, SOX3, POMC, POU1F1, HESX1, GHRH
7MP:00053786.3IGF1, SOX3, POMC, POU1F1, GHRH, GHRHR
8MP:00053766.3IGF1, SOX3, POMC, POU1F1, GHRH, GHRHR

Publications for Growth Hormone Deficiency

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Articles related to Growth Hormone Deficiency:

(show top 50)    (show all 1007)
idTitleAuthorsYear
1
Natural History of Growth Hormone Deficiency in a Pediatric Cohort. (25676059)
2015
2
Decreased retinal nerve fiber layer thickness in patients with congenital isolated growth hormone deficiency. (24803154)
2014
3
Association between decreased klotho blood levels and organic growth hormone deficiency in children with growth impairment. (25198618)
2014
4
An unusual combination of klinefelter syndrome and growth hormone deficiency in a prepubertal child. (25241616)
2014
5
Uncertainties in endocrine substitution therapy for central endocrine insufficiencies: growth hormone deficiency. (25248603)
2014
6
Netherton syndrome associated with growth hormone deficiency. (24015757)
2014
7
Evaluation of left ventricular mass and function, lipid profile, and insulin resistance in Egyptian children with growth hormone deficiency: A single-center prospective case-control study. (24083170)
2013
8
Growth hormone deficiency in a young patient with alopecia areata. (24326559)
2013
9
Genetic characterization of growth hormone 1 gene in patients with isolated growth hormone deficiency. (23565410)
2012
10
Measurement of oxidative stress and endothelial dysfunction in patients with hypopituitarism and severe deficiency adult growth hormone deficiency. (22228310)
2012
11
A polymorphism in the leptin receptor gene at position 223 is associated with growth hormone replacement therapy responsiveness in idiopathic short stature and growth hormone deficiency patients. (23009903)
2012
12
Early changes in body composition after cessation of growth hormone therapy in childhood-onset growth hormone deficiency. (21723762)
2011
13
Central corneal thickness in children with growth hormone deficiency. (19508460)
2010
14
Genetic polymorphisms in the locus control region and promoter of GH1 are related to serum IGF-I levels and height in patients with isolated growth hormone deficiency and healthy controls. (20190537)
2010
15
Severe hyponatremia due to ACTH insufficiency in a 14 year-old girl with growth hormone deficiency. (20432824)
2010
16
Association of the exon 3 deleted/full-length GHR polymorphism with recombinant growth hormone dose in growth hormone-deficient adults. (19842933)
2009
17
Isolated growth hormone deficiency type II caused by a point mutation that alters both splice site strength and splicing enhancer function. (18554279)
2008
18
Effects of growth hormone treatment on arginine to asymmetric dimethylarginine ratio and endothelial function in patients with growth hormone deficiency. (19013291)
2008
19
Isolated growth hormone deficiency: clinical entity? (19020379)
2008
20
Hypokalemic periodic paralysis in a patient with acquired growth hormone deficiency. (17556873)
2007
21
Chiari I malformation and idiopathic growth hormone deficiency in siblings: report of three cases. (17534630)
2007
22
Metabolic disorders in adult growth hormone deficiency: A study of 110 patients at a single institute in Japan. (16829702)
2006
23
Effect on adult height of pubertal growth hormone retesting and withdrawal of therapy in patients with previously diagnosed growth hormone deficiency. (16912138)
2006
24
Growth hormone deficiency and combined pituitary hormone deficiency: does the genotype matter? (16060904)
2005
25
Adiponectin, leptin, and erythrocyte sodium/lithium countertransport activity, but not resistin, are related to glucose metabolism in growth hormone-deficient adults. (15634721)
2005
26
Smith-Magenis syndrome and growth hormone deficiency. (15138811)
2004
27
Growth hormone deficiency (GHD): a new association in Peters' Plus Syndrome (PPS). (14735587)
2004
28
Childhood growth hormone deficiency (GHD) and idiopathic short stature (ISS): how far can a consensus go? (15116947)
2004
29
Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance. (12970262)
2003
30
Growth hormone deficiency in pituitary disease: relationship to depression, apathy and somatic complaints. (12153736)
2002
31
Amelogenesis imperfecta with growth hormone deficiency in a 12 year-old boy. (12014527)
2002
32
Plasma cholesteryl ester transfer protein and lipoprotein levels during treatment of growth hormone-deficient adult humans. (11485157)
2001
33
A novel and de novo splice-donor site mutation in intron 3 of the GH-1 gene in a patient with isolated growth hormone deficiency. (11914025)
2001
34
Isolated growth hormone deficiency in children and adolescents. (11529396)
2001
35
Hajdu-Cheney syndrome with growth hormone deficiency and neuropathy. (10968485)
2000
36
Alterations of haemostatic and fibrinolytic markers in adult patients with growth hormone deficiency and with acromegaly. (11083070)
2000
37
Serum lipid and leptin concentrations in hypopituitary patients with growth hormone deficiency. (10849585)
2000
38
The use of insulin-like growth factor 1 reference values for the diagnosis of growth hormone deficiency in prepubertal children. (10848878)
2000
39
Serum IGF-I and IGFBP-3 concentrations do not accurately predict growth hormone deficiency in children with brain tumours. (10469014)
1999
40
Growth hormone deficiency and its treatment in adults]. (9531734)
1998
41
Growth failure in Prader-Willi syndrome is secondary to growth hormone deficiency. (9568805)
1998
42
Growth hormone increases serum 1,25-dihydroxyvitamin D levels and decreases 24,25-dihydroxyvitamin D levels in children with growth hormone deficiency. (9037126)
1997
43
Congenital microgastria, growth hormone deficiency and diabetes insipidus. (9007489)
1997
44
Cockayne syndrome: a case with hyperinsulinemia and growth hormone deficiency. (8068222)
1994
45
Comparison between insulin-like growth factor-I (IGF-I) and IGF binding protein-3 (IGFBP-3) measurement in the diagnosis of growth hormone deficiency. (7524925)
1993
46
Effects of growth hormone and IGF-I on glomerular ultrafiltration in growth hormone-deficient rats. (8265813)
1993
47
Growth hormone deficiency (hGH) in 1 case of terminal renal insufficiency treated with chronic hemodialysis]. (2127454)
1990
48
The effects of treatment combining an agonist of gonadotropin-releasing hormone with growth hormone in pubertal patients with isolated growth hormone deficiency. (2524948)
1989
49
The catecholamine response to hypoglycemia in children with isolated growth hormone deficiency syndromes and multiple pituitary hormone defects. (3540823)
1986
50
Effect of hGH on head circumference and IQ in isolated growth hormone deficiency. (7249999)
1981

Variations for Growth Hormone Deficiency

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Expression for genes affiliated with Growth Hormone Deficiency

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Search GEO for disease gene expression data for Growth Hormone Deficiency.

Pathways for genes affiliated with Growth Hormone Deficiency

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Pathways related to Growth Hormone Deficiency according to GeneCards Suite gene sharing:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6GH1, IGF1
29.2POMC, GHRH, GHRHR
3
Show member pathways
9.2GHRHR, GHRH, POMC
4
Show member pathways
9.1GH1, GHRH, IGF1
5
Show member pathways
9.1GH1, GHRH, IGF1
6
Show member pathways
9.0IGF1, GH1, BTK
7
Show member pathways
9.0GH1, POMC, IGF1
8
Show member pathways
8.6BTK, GH1, GHRH, IGF1
9
Show member pathways
8.6BTK, GH1, GHRH, IGF1
10
Show member pathways
8.6IGF1, GHRH, GH1, BTK
11
Show member pathways
8.6IGF1, GHRH, GH1, BTK
12
Show member pathways
8.6IGF1, GHRH, GH1, BTK
13
Show member pathways
8.6IGF1, GHRH, GH1, BTK
14
Show member pathways
8.5POMC, GHRH, GHRHR, GH1, GHSR
15
Show member pathways
8.4BTK, GH1, GHRHR, GHRH, POMC
16
Show member pathways
8.3IGF1, SOX3, GHRH, GH1, BTK
17
Show member pathways
7.8IGF1, POMC, GHRH, GHRHR, GH1, GHSR

Compounds for genes affiliated with Growth Hormone Deficiency

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Compounds related to Growth Hormone Deficiency according to GeneCards Suite gene sharing:

(show top 50)    (show all 75)
idCompoundScoreTop Affiliating Genes
1somatuline439.9IGF1, GH1
2hcrh439.8POMC, GHSR
3quinagolide439.8GH1, IGF1
4mk-067743 2810.8GHSR, IGF1
5oxandrolone43 1210.7IGF1, GH1
6betamethasone43 1210.7GH1, POMC
7naloxone43 28 49 1212.6POMC, GHRH, GH1
8pyridostigmine43 1210.6GH1, GHRH, IGF1
9pegvisomant43 1210.5IGF1, GHRH, GH1
10acipimox43 2810.5GH1, GHRH, IGF1
11pirenzepine43 28 1211.5GH1, GHRH, IGF1
12opiate439.5GH1, GHRH, POMC
13cortisone43 2410.4GH1, POMC, IGF1
14dehydroepiandrosterone sulfate439.4GH1, POMC, IGF1
15levodopa43 1210.3GH1, GHRH, IGF1
16metformin43 49 1211.3IGF1, POMC, GH1
17dhea439.3IGF1, POMC, GH1
18leuprolide acetate439.3GH1, IGF1
19androstenedione43 2410.3IGF1, POMC, GH1
20megestrol acetate439.2POMC, IGF1
21ptx1439.2POU1F1, POMC
22lanreotide43 2810.1GHSR, GH1, GHRH, IGF1
23naltrexone43 28 49 1212.1IGF1, POMC, GHRH, GH1
24clonidine43 49 28 1212.0GH1, GHRH, POMC, IGF1
25triiodothyronine439.0IGF1, POMC, GHRH, GH1
26thyroxine43 2410.0IGF1, POMC, GHRH, GH1
27hydrocortisone43 2 59 1212.0IGF1, POMC, GH1, GHSR
281,25 dihydroxy vitamin d3438.8IGF1, POU1F1, GH1
29adenylate438.8POMC, GHRH, GHRHR, GH1, GHSR
30ghrp438.8IGF1, GHRH, GHRHR, GH1, GHSR
31gnrh438.7IGF1, POMC, HESX1, GHRH, GH1
32vitamin d438.6GH1, GHRH, POU1F1, IGF1
33cycloheximide438.6IGF1, POMC, GHRH, GH1
34octreotide43 59 28 1211.6IGF1, POMC, GHRH, GH1, GHSR
35estradiol43 24 1210.6IGF1, POMC, GHRH, GH1, GHSR
36testosterone43 59 24 1211.5GHSR, GH1, GHRH, POMC, IGF1
37glutamine438.4GH1, POU1F1, POMC, IGF1
38hexarelin43 289.3GHSR, GH1, GHRHR, GHRH, POMC, IGF1
39bromocriptine43 28 1210.2IGF1, POMC, POU1F1, GHRH, GH1
40glucose438.2IGF1, POMC, GHRH, GHRHR, GH1, GHSR
41progesterone43 28 59 24 1212.1IGF1, POMC, POU1F1, GHRH, GH1
42forskolin43 49 1210.1POMC, POU1F1, GHRH, GHRHR, GH1, GHSR
43serine437.9IGF1, POMC, GHRH, GH1, GHSR, BTK
44dopamine43 28 24 1210.8IGF1, POMC, POU1F1, GHRH, GH1, GHSR
45steroid437.8IGF1, POMC, POU1F1, GHRH, GH1, GHSR
46estrogen437.7IGF1, POMC, POU1F1, GHRH, GH1, GHSR
47ribonucleic acid437.5IGF1, POMC, POU1F1, GHRH, GHRHR, GH1
48dexamethasone43 49 28 1210.4IGF1, POMC, POU1F1, GHRH, GHRHR, GH1
49acth437.4IGF1, POMC, POU1F1, HESX1, GHRH, GH1
50arginine436.9IGF1, POMC, POU1F1, GHRH, GHRHR, GH1

GO Terms for genes affiliated with Growth Hormone Deficiency

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Cellular components related to Growth Hormone Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1secretory granuleGO:00301419.6GHRHR, POMC
2extracellular spaceGO:00056158.3GH1, GHRH, POMC, IGF1

Biological processes related to Growth Hormone Deficiency according to GeneCards Suite gene sharing:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of growth hormone secretionGO:006012410.0GHRHR, GHRH
2cAMP-mediated signalingGO:00199339.9GHRHR, GHRH
3positive regulation of cAMP biosynthetic processGO:00308199.9GHRH, GHRHR
4adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:00071899.8GHRHR, GHRH
5response to foodGO:00320949.8GHRH, GHSR
6water homeostasisGO:00301049.8GHRHR, IGF1
7positive regulation of tyrosine phosphorylation of Stat5 proteinGO:00425239.7GH1, IGF1
8cell maturationGO:00484699.6BTK, GHRHR
9somatotropin secreting cell developmentGO:00601339.6GHRHR, POU1F1
10growth hormone secretionGO:00302529.6GHRH, GHRHR, GHSR
11determination of adult lifespanGO:00083409.6GHRHR, POU1F1
12positive regulation of peptidyl-tyrosine phosphorylationGO:00507319.6GH1, IGF1
13positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.5IGF1, GH1
14cellular response to insulin stimulusGO:00328699.4GHSR, GHRHR
15positive regulation of insulin-like growth factor receptor signaling pathwayGO:00435688.7GHSR, GH1, GHRHR, GHRH, IGF1
16positive regulation of cell proliferationGO:00082848.5IGF1, POU1F1, GHRH, GHRHR
17positive regulation of multicellular organism growthGO:00400188.5POU1F1, GHRH, GHRHR, GH1, GHSR

Molecular functions related to Growth Hormone Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1peptide hormone bindingGO:00170469.7GHSR, GHRHR
2growth hormone-releasing hormone receptor activityGO:00165209.6GHSR, GHRHR
3hormone activityGO:00051798.7GH1, POMC, IGF1

Products for genes affiliated with Growth Hormone Deficiency

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Sources for Growth Hormone Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet