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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43NIH Rare Diseases, 65Wikipedia, 33MalaCards
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NIH Rare Diseases:43 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: Growth Hormone Deficiency is related to isolated growth hormone deficiency and acromegaly. 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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43NIH Rare Diseases, 45Novoseek
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Classifications:

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


Aliases & Descriptions:

growth hormone deficiency 43 45


Related Diseases for Growth Hormone Deficiency

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17GeneCards, 18GeneDecks
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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 221)
idRelated DiseaseScoreTop Affiliating Genes
1isolated growth hormone deficiency31.8POU1F1, GH1
2acromegaly31.1GH1, IGF1
3short stature31.1IGF1, POU1F1, HESX1, GHRH, GHRHR, GH1
4isolated growth hormone deficiency type 1b31.0GHRHR, GH1
5turner syndrome30.9IGF1
6hypoglycemia30.8GH1, GHRH, POMC, IGF1
7hypopituitarism30.7POU1F1, HESX1, GHRH, GH1, POMC, SOX3
8precocious puberty30.7GH1, POMC, IGF1
9septo-optic dysplasia30.7GH1, HESX1, POU1F1
10prader-willi syndrome30.6IGF1, GH1, GHSR
11obesity30.5GHSR, GH1, GHRH, HESX1, POMC, IGF1
12diabetes mellitus30.5IGF1, POMC, GH1
13dwarfism30.5IGF1, POU1F1, GHRH, GHRHR, GH1
14laron syndrome30.5GH1, IGF1
15empty sella syndrome30.5IGF1, POU1F1, GH1
16diabetes insipidus30.4POMC, GHRH
17hypogonadism30.3IGF1, POMC, POU1F1, GH1
18craniopharyngioma30.3GH1, POMC, IGF1
19hypothyroidism30.3GHSR, GH1, GHRHR, IGF1, POMC, POU1F1
20hyperprolactinemia30.3IGF1, POMC, GHRH, GH1
21pituitary apoplexy30.2POMC
22pituitary hypoplasia30.2SOX3, POU1F1, HESX1, GHRH, GHRHR
23cushing's syndrome30.2GH1, POMC
24pituitary adenoma30.1IGF1, POMC, POU1F1, GHRH, GHRHR, GH1
25adenoma30.1IGF1, POMC, POU1F1, GHRH, GHRHR, GH1
26panhypopituitarism30.1IGF1, POMC, POU1F1, HESX1, GH1
27amenorrhea30.1POMC, IGF1
28prolactinoma30.1IGF1, POMC, POU1F1, GHRHR, GH1, GHSR
29anorexia nervosa30.0GH1, GHRH, POMC, IGF1
30pituitary tumors29.8IGF1, POMC, POU1F1, GHRH, GHRHR, GH1
31isolated growth hormone deficiency type 1a10.7
32isolated growth hormone deficiency type 210.7
33isolated growth hormone deficiency type 310.6
34mental retardation, x-linked, with isolated growth hormone deficiency10.6
35brain injury10.5
36thyroiditis10.5
37traumatic brain injury10.5
38endotheliitis10.5
39agammaglobulinemia10.5
40leukemia10.4
41lymphocytic choriomeningitis10.4
42pseudohypoparathyroidism10.4
43fanconi's anemia10.4
44cerebritis10.4
45atherosclerosis10.4
46lymphoblastic leukemia10.4
47encephalopathy intracranial calcification growth hormone deficiency microcephaly retinal degeneration10.4
48mental retardation10.4
49blindness10.4
50celiac disease10.3

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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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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33MalaCards
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MalaCards organs/tissues related to Growth Hormone Deficiency:

33
Bone, Pituitary, Testes, Brain, Endothelial, Thyroid, Skeletal muscle, Skin, Liver, Heart, Bone marrow, Eye, Uterus, Breast, Nk cells, Kidney, Salivary gland, Hypothalamus, Spinal cord

Animal Models for Growth Hormone Deficiency or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Growth Hormone Deficiency:

37
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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52PubMed
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Articles related to Growth Hormone Deficiency:

(show top 50)    (show all 958)
idTitleAuthorsYear
1
Netherton syndrome associated with growth hormone deficiency. (24015757)
2014
2
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
3
Children with isolated growth hormone deficiency: Empty sella versus normal sella. (24019611)
2013
4
Growth hormone deficiency in a young patient with alopecia areata. (24326559)
2013
5
Genetic characterization of growth hormone 1 gene in patients with isolated growth hormone deficiency. (23565410)
2012
6
Measurement of oxidative stress and endothelial dysfunction in patients with hypopituitarism and severe deficiency adult growth hormone deficiency. (22228310)
2012
7
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
8
Early changes in body composition after cessation of growth hormone therapy in childhood-onset growth hormone deficiency. (21723762)
2011
9
Central corneal thickness in children with growth hormone deficiency. (19508460)
2010
10
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
11
Severe hyponatremia due to ACTH insufficiency in a 14 year-old girl with growth hormone deficiency. (20432824)
2010
12
Chronic cognitive sequelae after traumatic brain injury are not related to growth hormone deficiency in adults. (20050894)
2010
13
Rational approach to the diagnosis of severe growth hormone deficiency in the newborn. (20332247)
2010
14
Association of the exon 3 deleted/full-length GHR polymorphism with recombinant growth hormone dose in growth hormone-deficient adults. (19842933)
2009
15
Isolated growth hormone deficiency type II caused by a point mutation that alters both splice site strength and splicing enhancer function. (18554279)
2008
16
Effects of growth hormone treatment on arginine to asymmetric dimethylarginine ratio and endothelial function in patients with growth hormone deficiency. (19013291)
2008
17
Isolated growth hormone deficiency: clinical entity? (19020379)
2008
18
The exon 3-deleted/full-length growth hormone receptor polymorphism does not influence the effect of puberty or growth hormone therapy on glucose homeostasis in short non-growth hormone-deficient small-for-gestational-age children: results from a two-year controlled prospective study. (18445665)
2008
19
Hypokalemic periodic paralysis in a patient with acquired growth hormone deficiency. (17556873)
2007
20
Chiari I malformation and idiopathic growth hormone deficiency in siblings: report of three cases. (17534630)
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
Cost-utility of somatropin (rDNA origin) in the treatment of growth hormone deficiency in children. (16466607)
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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2BioGPS, 15Gene Expression Omnibus DataSets
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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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50PathCards, 38NCBI BioSystems Database, 55Reactome, 60Thomson Reuters, 53QIAGEN, 51PharmGKB, 30KEGG
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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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45Novoseek, 29IUPHAR, 11DrugBank, 51PharmGKB, 24HMDB, 3BitterDB, 61Tocris Bioscience
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Compounds related to Growth Hormone Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 75)
idCompoundScoreTop Affiliating Genes
1somatuline459.9IGF1, GH1
2hcrh459.8GHSR, POMC
3quinagolide459.8IGF1, GH1
4mk-067745 2910.8GHSR, IGF1
5oxandrolone45 1110.7IGF1, GH1
6betamethasone45 1110.7GH1, POMC
7naloxone45 29 51 1112.6POMC, GHRH, GH1
8pyridostigmine45 1110.6GH1, GHRH, IGF1
9pegvisomant45 1110.5GHRH, GH1, IGF1
10acipimox45 2910.5GHRH, IGF1, GH1
11pirenzepine45 29 1111.5GH1, GHRH, IGF1
12opiate459.5GH1, GHRH, POMC
13cortisone45 2410.4GH1, IGF1, POMC
14dehydroepiandrosterone sulfate459.4POMC, GH1, IGF1
15levodopa45 1110.3IGF1, GH1, GHRH
16metformin45 51 1111.3GH1, IGF1, POMC
17dhea459.3GH1, POMC, IGF1
18leuprolide acetate459.3IGF1, GH1
19androstenedione45 2410.3POMC, GH1, IGF1
20megestrol acetate459.2POMC, IGF1
21ptx1459.2POMC, POU1F1
22lanreotide45 2910.1GHSR, IGF1, GHRH, GH1
23naltrexone45 29 51 1112.1IGF1, POMC, GHRH, GH1
24clonidine45 51 29 1112.0IGF1, GHRH, GH1, POMC
25triiodothyronine459.0POMC, GHRH, GH1, IGF1
26thyroxine45 2410.0IGF1, POMC, GH1, GHRH
27hydrocortisone45 3 61 1112.0GH1, GHSR, POMC, IGF1
281,25 dihydroxy vitamin d3458.8IGF1, POU1F1, GH1
29adenylate458.8GHRH, POMC, GHSR, GH1, GHRHR
30ghrp458.8GHSR, IGF1, GHRHR, GHRH, GH1
31gnrh458.7IGF1, HESX1, GH1, GHRH, POMC
32vitamin d458.6GHRH, POU1F1, GH1, IGF1
33cycloheximide458.6GH1, GHRH, IGF1, POMC
34octreotide45 61 29 1111.6IGF1, GHRH, GH1, GHSR, POMC
35estradiol45 24 1110.6POMC, GHRH, GH1, IGF1, GHSR
36testosterone45 61 24 1111.5POMC, GHSR, GH1, GHRH, IGF1
37glutamine458.4POU1F1, IGF1, POMC, GH1
38hexarelin45 299.3GHSR, POMC, GHRH, GHRHR, GH1, IGF1
39bromocriptine45 29 1110.2IGF1, GH1, GHRH, POU1F1, POMC
40glucose458.2GHRH, GHRHR, GHSR, IGF1, GH1, POMC
41progesterone45 29 61 24 1112.1IGF1, GH1, POMC, GHRH, POU1F1
42forskolin45 51 1110.1POMC, GHRH, POU1F1, GHSR, GH1, GHRHR
43serine457.9GHSR, IGF1, POMC, GHRH, GH1, BTK
44dopamine45 29 24 1110.8IGF1, POU1F1, GHRH, GH1, GHSR, POMC
45steroid457.8GHRH, IGF1, GHSR, GH1, POU1F1, POMC
46estrogen457.7IGF1, GHSR, GH1, POMC, GHRH, POU1F1
47ribonucleic acid457.5POMC, GH1, IGF1, POU1F1, GHRH, GHRHR
48dexamethasone45 51 29 1110.4GHSR, IGF1, POMC, POU1F1, GH1, GHRHR
49acth457.4GHSR, POMC, GHRH, IGF1, POU1F1, GH1
50arginine456.9GHRHR, GHRH, POU1F1, POMC, GH1, BTK

GO Terms for genes affiliated with Growth Hormone Deficiency

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16Gene Ontology
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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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  • Antibodies
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Sources for Growth Hormone Deficiency

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet