MCID: GRW007
MIFTS: 52

Growth Hormone Deficiency malady

Rare diseases, Endocrine diseases categories
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Summaries for Growth Hormone Deficiency

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NIH Rare Diseases:42 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 is related to isolated growth hormone deficiency and isolated growth hormone deficiency type 1b. 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:65 Growth hormone deficiency (GHD) is a medical condition, caused by problems arising in the pituitary... more...

Aliases & Classifications for Growth Hormone Deficiency

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Sources:
42NIH Rare Diseases, 44Novoseek, 62UMLS
See all sources

Growth Hormone Deficiency, Aliases & Descriptions:

Name: Growth Hormone Deficiency 42 44 62


Classifications:

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


Related Diseases for Growth Hormone Deficiency

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

(show top 50)    (show all 229)
idRelated DiseaseScoreTop Affiliating Genes
1isolated growth hormone deficiency32.1POU1F1, GH1
2isolated growth hormone deficiency type 1b31.4GHRHR, GH1
3acromegaly31.4IGF1, GH1
4turner syndrome31.3IGF1
5laron syndrome30.8GH1, IGF1
6precocious puberty30.8GH1, IGF1, POMC
7septo-optic dysplasia30.7GH1, HESX1, POU1F1
8prader-willi syndrome30.7GH1, GHSR, IGF1
9pituitary apoplexy30.7POMC
10hypoglycemia30.7IGF1, GHRH, GH1, POMC
11diabetes insipidus30.6GHRH, POMC
12cushing's syndrome30.5POMC, GH1
13empty sella syndrome30.4IGF1, GH1, POU1F1
14craniopharyngioma30.4GH1, POMC, IGF1
15diabetes mellitus30.3IGF1, POMC, GH1
16hyperprolactinemia30.2POMC, GHRH, GH1, IGF1
17amenorrhea30.2IGF1, POMC
18short stature30.2IGF1, POU1F1, GHSR, GH1, GHRHR, GHRH
19dwarfism30.1GHRH, IGF1, GH1, GHRHR, POU1F1
20obesity30.0GHSR, HESX1, IGF1, POMC, GHRH, GH1
21hypogonadism30.0POMC, GH1, IGF1, POU1F1
22anorexia nervosa29.9POMC, GH1, GHRH, IGF1
23pituitary hypoplasia29.9SOX3, GHRH, POU1F1, HESX1, GHRHR
24hypopituitarism29.8GH1, GHRH, HESX1, POU1F1, POMC, SOX3
25panhypopituitarism29.6HESX1, IGF1, POU1F1, POMC, GH1
26prolactinoma29.3GHSR, GH1, POU1F1, POMC, IGF1, GHRHR
27pituitary adenoma29.2POMC, GHRHR, GHSR, GH1, IGF1, GHRH
28adenoma29.2GHSR, GH1, GHRHR, GHRH, POU1F1, POMC
29hypothyroidism29.2POU1F1, POMC, IGF1, GHSR, GH1, GHRHR
30pituitary tumors28.9POMC, GHSR, GH1, GHRHR, IGF1, POU1F1
31isolated growth hormone deficiency type 1a10.7
32isolated growth hormone deficiency type 210.7
33isolated growth hormone deficiency type 310.7
34brain injury10.6
35traumatic brain injury10.5
36thyroiditis10.5
37mental retardation, x-linked, with isolated growth hormone deficiency10.5
38agammaglobulinemia10.5
39endotheliitis10.5
40leukemia10.5
41zollinger-ellison syndrome10.4GHRH
42atherosclerosis10.4
43pseudohypoparathyroidism10.4
44pituitary carcinoma10.4POMC
45acute lymphoblastic leukemia10.4
46fanconi's anemia10.4
47lymphocytic choriomeningitis10.4
48cerebritis10.4
49lymphoblastic leukemia10.4
50encephalopathy intracranial calcification growth hormone deficiency microcephaly retinal degeneration10.4

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:

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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:

32
Bone, Pituitary, Testes, Brain, Thyroid, Endothelial, Skeletal muscle, Skin, Heart, Liver, Bone marrow, 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:

36
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 983)
idTitleAuthorsYear
1
Decreased retinal nerve fiber layer thickness in patients with congenital isolated growth hormone deficiency. (24803154)
2014
2
Association between decreased klotho blood levels and organic growth hormone deficiency in children with growth impairment. (25198618)
2014
3
An unusual combination of klinefelter syndrome and growth hormone deficiency in a prepubertal child. (25241616)
2014
4
Uncertainties in endocrine substitution therapy for central endocrine insufficiencies: growth hormone deficiency. (25248603)
2014
5
Netherton syndrome associated with growth hormone deficiency. (24015757)
2014
6
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
7
Children with isolated growth hormone deficiency: Empty sella versus normal sella. (24019611)
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
Metabolic disorders in adult growth hormone deficiency: A study of 110 patients at a single institute in Japan. (16829702)
2006
22
Effect on adult height of pubertal growth hormone retesting and withdrawal of therapy in patients with previously diagnosed growth hormone deficiency. (16912138)
2006
23
Growth hormone deficiency and combined pituitary hormone deficiency: does the genotype matter? (16060904)
2005
24
Adiponectin, leptin, and erythrocyte sodium/lithium countertransport activity, but not resistin, are related to glucose metabolism in growth hormone-deficient adults. (15634721)
2005
25
Smith-Magenis syndrome and growth hormone deficiency. (15138811)
2004
26
Growth hormone deficiency (GHD): a new association in Peters' Plus Syndrome (PPS). (14735587)
2004
27
Childhood growth hormone deficiency (GHD) and idiopathic short stature (ISS): how far can a consensus go? (15116947)
2004
28
Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance. (12970262)
2003
29
Growth hormone deficiency in pituitary disease: relationship to depression, apathy and somatic complaints. (12153736)
2002
30
Amelogenesis imperfecta with growth hormone deficiency in a 12 year-old boy. (12014527)
2002
31
Plasma cholesteryl ester transfer protein and lipoprotein levels during treatment of growth hormone-deficient adult humans. (11485157)
2001
32
The "quality of life-assessment of growth hormone deficiency in adults" questionnaire: can it be used to assess quality of life in hypopituitarism? (11344182)
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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Expression patterns in normal tissues for genes affiliated with Growth Hormone Deficiency

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/GeneDecks:

(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/GeneDecks:

(show top 50)    (show all 75)
idCompoundScoreTop Affiliating Genes
1somatuline449.9IGF1, GH1
2hcrh449.8GHSR, POMC
3quinagolide449.8IGF1, GH1
4mk-067744 2810.8GHSR, IGF1
5oxandrolone44 1110.7IGF1, GH1
6betamethasone44 1110.7GH1, POMC
7naloxone44 28 50 1112.6POMC, GHRH, GH1
8pyridostigmine44 1110.6GH1, GHRH, IGF1
9pegvisomant44 1110.5GHRH, GH1, IGF1
10acipimox44 2810.5GHRH, IGF1, GH1
11pirenzepine44 28 1111.5GH1, GHRH, IGF1
12opiate449.5GH1, GHRH, POMC
13cortisone44 2410.4GH1, IGF1, POMC
14dehydroepiandrosterone sulfate449.4POMC, GH1, IGF1
15levodopa44 1110.3IGF1, GH1, GHRH
16metformin44 50 1111.3GH1, IGF1, POMC
17dhea449.3GH1, POMC, IGF1
18leuprolide acetate449.3IGF1, GH1
19androstenedione44 2410.3POMC, GH1, IGF1
20megestrol acetate449.2POMC, IGF1
21ptx1449.2POMC, POU1F1
22lanreotide44 2810.1GHSR, IGF1, GHRH, GH1
23naltrexone44 28 50 1112.1IGF1, POMC, GHRH, GH1
24clonidine44 50 28 1112.0IGF1, GHRH, GH1, POMC
25triiodothyronine449.0POMC, GHRH, GH1, IGF1
26thyroxine44 2410.0IGF1, POMC, GH1, GHRH
27hydrocortisone44 2 61 1112.0GH1, GHSR, POMC, IGF1
281,25 dihydroxy vitamin d3448.8IGF1, POU1F1, GH1
29adenylate448.8GHRH, POMC, GHSR, GH1, GHRHR
30ghrp448.8GHSR, IGF1, GHRHR, GHRH, GH1
31gnrh448.7IGF1, HESX1, GH1, GHRH, POMC
32vitamin d448.6GHRH, POU1F1, GH1, IGF1
33cycloheximide448.6GH1, GHRH, IGF1, POMC
34octreotide44 61 28 1111.6IGF1, GHRH, GH1, GHSR, POMC
35estradiol44 24 1110.6POMC, GHRH, GH1, IGF1, GHSR
36testosterone44 61 24 1111.5POMC, GHSR, GH1, GHRH, IGF1
37glutamine448.4POU1F1, IGF1, POMC, GH1
38hexarelin44 289.3GHSR, POMC, GHRH, GHRHR, GH1, IGF1
39bromocriptine44 28 1110.2IGF1, GH1, GHRH, POU1F1, POMC
40glucose448.2GHRH, GHRHR, GHSR, IGF1, GH1, POMC
41progesterone44 28 61 24 1112.1IGF1, GH1, POMC, GHRH, POU1F1
42forskolin44 50 1110.1POMC, GHRH, POU1F1, GHSR, GH1, GHRHR
43serine447.9GHSR, IGF1, POMC, GHRH, GH1, BTK
44dopamine44 28 24 1110.8IGF1, POU1F1, GHRH, GH1, GHSR, POMC
45steroid447.8GHRH, IGF1, GHSR, GH1, POU1F1, POMC
46estrogen447.7IGF1, GHSR, GH1, POMC, GHRH, POU1F1
47ribonucleic acid447.5POMC, GH1, IGF1, POU1F1, GHRH, GHRHR
48dexamethasone44 50 28 1110.4GHSR, IGF1, POMC, POU1F1, GH1, GHRHR
49acth447.4GHSR, POMC, GHRH, IGF1, POU1F1, GH1
50arginine446.9GHRHR, GHRH, POU1F1, POMC, GH1, BTK

GO Terms for genes affiliated with Growth Hormone Deficiency

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Cellular components related to Growth Hormone Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1secretory granuleGO:0301419.6GHRHR, POMC
2extracellular spaceGO:0056158.3GH1, GHRH, POMC, IGF1

Biological processes related to Growth Hormone Deficiency according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of growth hormone secretionGO:06012410.0GHRHR, GHRH
2cAMP-mediated signalingGO:0199339.9GHRHR, GHRH
3positive regulation of cAMP biosynthetic processGO:0308199.9GHRH, GHRHR
4adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:0071899.8GHRHR, GHRH
5response to foodGO:0320949.8GHRH, GHSR
6water homeostasisGO:0301049.8GHRHR, IGF1
7positive regulation of tyrosine phosphorylation of Stat5 proteinGO:0425239.7GH1, IGF1
8cell maturationGO:0484699.6BTK, GHRHR
9somatotropin secreting cell developmentGO:0601339.6GHRHR, POU1F1
10growth hormone secretionGO:0302529.6GHRH, GHRHR, GHSR
11determination of adult lifespanGO:0083409.6GHRHR, POU1F1
12positive regulation of peptidyl-tyrosine phosphorylationGO:0507319.6GH1, IGF1
13positive regulation of phosphatidylinositol 3-kinase signalingGO:0140689.5IGF1, GH1
14cellular response to insulin stimulusGO:0328699.4GHSR, GHRHR
15positive regulation of insulin-like growth factor receptor signaling pathwayGO:0435688.7GHSR, GH1, GHRHR, GHRH, IGF1
16positive regulation of cell proliferationGO:0082848.5IGF1, POU1F1, GHRH, GHRHR
17positive regulation of multicellular organism growthGO:0400188.5POU1F1, GHRH, GHRHR, GH1, GHSR

Molecular functions related to Growth Hormone Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1peptide hormone bindingGO:0170469.7GHSR, GHRHR
2growth hormone-releasing hormone receptor activityGO:0165209.6GHSR, GHRHR
3hormone activityGO:0051798.7GH1, 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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet