MCID: ISL003
MIFTS: 39

Isolated Growth Hormone Deficiency malady

Endocrine diseases category

Summaries for Isolated Growth Hormone Deficiency

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21Genetics Home Reference, 32MalaCards
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Genetics Home Reference:21 Isolated growth hormone deficiency is a condition caused by a severe shortage or absence of growth hormone. Growth hormone is a protein that is necessary for the normal growth of the body's bones and tissues. Because they do not have enough of this hormone, people with isolated growth hormone deficiency commonly experience a failure to grow at the expected rate and have unusually short stature. This condition is usually apparent by early childhood.

MalaCards: Isolated Growth Hormone Deficiency, also known as isolated somatotropin deficiency, is related to isolated growth hormone deficiency type 1b and hypoglycemia. An important gene associated with Isolated Growth Hormone Deficiency is GHRHR (growth hormone releasing hormone receptor), and among its related pathways are Primary immunodeficiency and Prolactin receptor signaling. The compounds estrogen and pirenzepine have been mentioned in the context of this disorder. Affiliated tissues include pituitary and bone, and related mouse phenotypes are adipose tissue and reproductive system.

Aliases & Classifications for Isolated Growth Hormone Deficiency

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21Genetics Home Reference, 60UMLS, 44Novoseek
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Classifications:

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


Aliases & Descriptions:

isolated growth hormone deficiency 21
isolated somatotropin deficiency 21 60
isolated somatotropin deficiency disorder 21
isolated human growth hormone deficiency 21
dwarfism, growth hormone deficiency 21
growth hormone deficiency dwarfism 21
isolated hgh deficiency 21
isolated gh deficiency 21
dwarfism, pituitary 21
dwarfism pituitary 44
pituitary dwarfism 60


Related Diseases for Isolated Growth Hormone Deficiency

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17GeneCards, 18GeneDecks
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Diseases related to Isolated Growth Hormone Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 130)
idRelated DiseaseScoreTop Affiliating Genes
1isolated growth hormone deficiency type 1b30.8GHRHR, GH1
2hypoglycemia30.6IGF1, GH1, GHRH, POMC
3agammaglobulinemia30.6CD40LG, BTK, CD79A
4dwarfism30.5GHRH, GHRHR, IGF1, POU1F1, GH1
5laron syndrome30.4GH1, IGF1
6thyroiditis30.4POMC, CD79A
7acromegaly30.2GH1, IGF1
8hyperprolactinemia30.2IGF1, GH1, GHRH, POMC
9hypogonadism30.2GH1, IGF1, POU1F1, POMC
10anorexia nervosa30.2GHRH, GH1, IGF1, POMC
11pituitary hypoplasia30.2OTX2, POU1F1, GHRH, LHX4, HESX1, SOX3
12obesity30.2GHSR, POMC, GHRH, HESX1, GH1, IGF1
13panhypopituitarism30.2IGF1, LHX4, POU1F1, POMC, GH1, HESX1
14hypopituitarism30.2HESX1, POMC, POU1F1, IGF1, GH1, GHRH
15turner syndrome29.9IGF1
16diabetes insipidus29.9POMC, GHRH
17amenorrhea29.9IGF1, POMC
18hypothyroidism29.9GH1, POMC, POU1F1, GHRH, GHSR, IGF1
19mental retardation, x-linked, with isolated growth hormone deficiency10.6
20isolated growth hormone deficiency type 210.6
21isolated growth hormone deficiency type 310.5
22isolated gonadotropin-releasing hormone deficiency10.5
23isolated growth hormone deficiency type 1a10.5
24isolated growth hormone deficiency, type ib, ghrhr-related10.3
25partial isolated growth hormone deficiency10.3
26isolated growth hormone deficiency, type ib, gh1-related10.3
27isolated growth hormone deficiency due to defect in ghrf10.3
28leukemia10.2
29autosomal dominant chondrodysplasia punctata10.2
30deficiency anemia10.1
31cystic fibrosis10.1
32fanconi's anemia10.1
33mulibrey nanism10.1
34meningoencephalitis10.1
35complement deficiency10.1
36dermatomyositis10.1
37x-linked disease10.1
38mental retardation, x-linked, with growth hormone deficiency10.1
39agammaglobulinemia and isolated hormone deficiency10.1
40acute leukemia10.1
41pituitary dwarfism with large sella turcica10.1
42short bowel syndrome10.0GH1
43gastrinoma10.0GH1
44liver cirrhosis10.0GHRH
45adenocarcinoma10.0POU1F1
46optic nerve hypoplasia10.0PAX6
47rabson-mendenhall syndrome10.0IGF1
48rheumatic fever10.0POMC
49mental retardation10.0PAX6, SOX3
50gigantism10.0GH1, IGF1

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



Diseases related to isolated growth hormone deficiency

Clinical Features for Isolated Growth Hormone Deficiency

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Drugs & Therapeutics for Isolated Growth Hormone Deficiency

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Isolated Growth Hormone Deficiency

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Anatomical Context for Isolated Growth Hormone Deficiency

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32MalaCards
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MalaCards organs/tissues related to Isolated Growth Hormone Deficiency:

32
Pituitary, Bone

Animal Models for Isolated Growth Hormone Deficiency or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Isolated Growth Hormone Deficiency:

36 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.2POMC, IGF1, GH1, GHSR, GHRHR
2MP:00053898.2SOX3, GHRHR, GHRH, GH1, IGF1, POU1F1
3MP:00053908.0GHSR, PAX6, SLC20A1, CD40LG, IGF1, GHRHR
4MP:00107717.7SLC20A1, PAX6, CD40LG, BTK, POMC, IGF1
5MP:00053797.4GHRHR, IGF1, SOX3, LHX4, PAX6, CD40LG
6MP:00053787.3IGF1, GH1, POU1F1, POMC, BTK, SLC20A1
7MP:00053877.2PAX6, SLC20A1, CD79A, CD40LG, BTK, POMC
8MP:00053847.1CD79A, SLC20A1, OTX2, PAX6, CD40LG, BTK
9MP:00107687.0CD40LG, SLC20A1, IGF1, OTX2, PAX6, BTK
10MP:00036316.9GHRHR, GHRH, GH1, CD40LG, POU1F1, POMC
11MP:00053766.1POU1F1, IGF1, GH1, GHRH, POMC, BTK

Publications for Isolated Growth Hormone Deficiency

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Genetic Variations for Isolated Growth Hormone Deficiency

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Expression for genes affiliated with Isolated Growth Hormone Deficiency

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Isolated Growth Hormone Deficiency

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

Pathways for genes affiliated with Isolated Growth Hormone Deficiency

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29KEGG, 53Reactome, 12EMD Millipore, 51QIAGEN, 37NCBI BioSystems Database
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Pathways related to Isolated Growth Hormone Deficiency according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8CD79A, BTK
2
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9.8CSH1, GH2, GH1
39.7SOX3, PAX6, OTX2
4
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9.5GHRH, IGF1, GH2, GH1
5
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9.3GHRH, GH2, GH1, IGF1, BTK
6
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9.3BTK, GHRH, GH2, GH1, IGF1
7
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9.3IGF1, GH2, GH1, BTK, GHRH
8
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9.0GHRH, GHRHR, GH2, GH1, POMC, BTK
9
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9.0GH1, GH2, CD79A, BTK, IGF1
10
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8.8GH2, CD79A, GH1, IGF1, BTK, GHRH
11
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8.8GH1, IGF1, BTK, GHRH, CD79A, GH2
12
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8.8BTK, CD79A, IGF1, GHRH, GH1, GH2
13
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8.8GH1, POMC, GH2, GHRH, GHSR, GHRHR
14
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8.7GH2, PAX6, BTK, IGF1, GH1, GHRH
15
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8.7CD79A, CSH1, GH2, GH1, BTK, CD40LG
16
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8.4CSH1, GHRHR, GHSR, GHRH, GH2, GH1

Compounds for genes affiliated with Isolated Growth Hormone Deficiency

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44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB, 49PharmGKB, 2BitterDB, 59Tocris Bioscience
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Compounds related to Isolated Growth Hormone Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 69)
idCompoundScoreTop Affiliating Genes
1estrogen4410.4CD79A
2pirenzepine44 28 1112.4GH1, GHRH
3mk-067744 2811.3GHSR, IGF1
4somatuline4410.2GH1, IGF1
5hcrh4410.2GHSR, POMC
6norepinephrine44 11 2412.2POMC, GHRH
7quinagolide4410.2GH1, IGF1
8pyridostigmine44 1111.1GHRH, GH1, IGF1
9pegvisomant44 1111.1IGF1, GH1, GHRH
10acipimox44 2811.1IGF1, GH1, GHRH
11dehydroepiandrosterone sulfate4410.1GH1, POMC
12bromocriptine28 44 1112.0GHRH, POU1F1, POMC
13sulfolipid i4410.0CD40LG, CD79A
14oxandrolone44 1110.9IGF1, GH1
15lanreotide44 2810.9GHSR, GHRH, GH1, IGF1
16cortisone44 2410.9POMC, IGF1, GH1
17sandoglobulin449.9CD40LG, CD79A
18clomiphene citrate449.9GH1, IGF1, CD40LG
19naloxone44 49 28 1112.9POMC, GH1, GHRH
20salbutamol44 49 28 11 2413.9CD79A, GH1, GHRH
21ghrp449.8GHRHR, GHSR, GHRH, GH1, IGF1
22naltrexone44 49 28 1112.8GHRH, GH1, IGF1, POMC
23clonidine44 28 1111.8GHRH, GH1, IGF1, POMC
24triiodothyronine449.7GHRH, GH1, IGF1, POMC
25hydrocortisone44 2 59 1112.7GHSR, GH1, IGF1, POMC
26forskolin44 49 1111.6GHRHR, GHSR, GHRH, POU1F1, POMC
27octreotide44 59 28 1112.6POMC, IGF1, GH1, GHRH, GHSR
28ivig449.5CD79A, CD40LG, BTK
29gnrh449.5HESX1, GHRH, GH1, IGF1, POMC
30valproate449.5IGF1, CD40LG, CD79A
31metformin44 49 1111.5GH1, IGF1, POMC
32hexarelin44 2810.4POMC, IGF1, GH1, GHRH, GHSR, GHRHR
33estradiol44 11 2411.4GHSR, GHRH, GH1, IGF1, POMC
34vitamin d449.3CD79A, POU1F1, IGF1, GH1, GHRH
35adenylate449.2GHRHR, GHSR, GHRH, GH1, POMC, CD40LG
36acth449.1HESX1, GHSR, GHRH, GH1, IGF1, POU1F1
37vitamin b12449.0CD79A, CD40LG, IGF1
38thyroxine44 249.9GHRH, GH1, IGF1, POMC, CD40LG, CD79A
39ribonucleic acid448.9GHRHR, GHSR, GHRH, GH2, GH1, IGF1
40steroid448.8GHSR, GHRH, GH1, IGF1, POU1F1, POMC
41glucose448.8GHRHR, GHSR, GHRH, GH2, GH1, IGF1
42creatinine448.7CD79A, CD40LG, POMC, IGF1, GH1
43glutamate448.7GHRHR, GHRH, POU1F1, CD40LG, CD79A, PAX6
44alanine448.6SOX3, GH1, POU1F1, POMC, CD40LG, CD79A
45vegf448.5GH1, IGF1, POMC, CD40LG, CD79A, PAX6
46serine448.4GHSR, GHRH, GH1, IGF1, POMC, BTK
47testosterone44 59 11 2411.4GHSR, GHRH, GH2, GH1, IGF1, POMC
48dopamine44 28 11 2411.4GHSR, GHRH, GH1, IGF1, POU1F1, POMC
49dexamethasone44 49 28 1111.3GHRHR, GHSR, GHRH, GH1, IGF1, POU1F1
50arginine447.1IGF1, GH1, GHRH, GHSR, GHRHR, POU1F1

GO Terms for genes affiliated with Isolated Growth Hormone Deficiency

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16Gene Ontology
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Cellular components related to Isolated Growth Hormone Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:0055767.5POMC, IGF1, GH1, GH2, GHRH, ITGBL1

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1somatotropin secreting cell developmentGO:06013310.3POU1F1, GHRHR
2positive regulation of growth hormone secretionGO:06012410.2GHRH, GHRHR
3response to foodGO:03209410.2GHRH, GHSR
4water homeostasisGO:03010410.2GHRHR, IGF1
5growth hormone secretionGO:03025210.1GHRH, GHSR, GHRHR
6determination of adult lifespanGO:00834010.0POU1F1, GHRHR
7JAK-STAT cascade involved in growth hormone signaling pathwayGO:06039710.0CSH1, GH2, GH1
8positive regulation of tyrosine phosphorylation of Stat5 proteinGO:0425239.9IGF1, GH1
9organ morphogenesisGO:0098879.7LHX4, SOX3, PAX6
10positive regulation of multicellular organism growthGO:0400189.7GHRHR, GHSR, GHRH, GH1, POU1F1
11cell fate specificationGO:0017089.7OTX2, POU1F1
12positive regulation of insulin-like growth factor receptor signaling pathwayGO:0435689.6IGF1, GH1, GHRH, GHSR, GHRHR
13B cell differentiationGO:0301839.5CD79A, CD40LG, POU1F1
14B cell proliferationGO:0421009.5CD79A, CD40LG

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

idNameGO IDScoreTop Affiliating Genes
1growth hormone-releasing hormone receptor activityGO:01652010.1GHSR, GHRHR
2hormone activityGO:0051798.2POMC, IGF1, GH1, GH2, CSH1, CSHL1

Products for genes affiliated with Isolated Growth Hormone Deficiency

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Sources for Isolated 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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet