MCID: PTT012

Pituitary Hormone Deficiency malady

Summaries for Pituitary Hormone Deficiency

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22MalaCards
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MalaCards: Pituitary Hormone Deficiency, also known as hypopituitarism, is related to combined pituitary hormone deficiency and hypopituitarism. An important gene associated with Pituitary Hormone Deficiency is PROP1 (PROP paired-like homeobox 1), and among its related pathways are Glucocorticoid Pathway (HPA Axis), Pharmacodynamics and Transcription Receptor-mediated HIF regulation. The compounds quinagolide and acth 1-24 have been mentioned in the context of this disorder. Affiliated tissues include thyroid, adrenal gland and pituitary, and related mouse phenotypes are hearing/vestibular/ear and endocrine/exocrine gland.

Aliases & Descriptions for Pituitary Hormone Deficiency

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43UMLS, 7diseasecard
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pituitary hormone deficiency 7
hypopituitarism 43

Related Diseases for Pituitary Hormone Deficiency

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13GeneCards, 14GeneDecks
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Diseases related to pituitary hormone deficiency by text searches and GeneDecks gene sharing:

(show top 50)    (show all 306)
idRelated DiseaseScoreTop Affiliating Genes
1combined pituitary hormone deficiency32.0RBM28, PBX1, LHX3, LHX4, INS, IGFBP3
2hypopituitarism30.8PBX1, LHX3, LHX4, INS, IGFBP3, IGF1
3septooptic dysplasia29.6HESX1, SOD1
4borjeson-forssman-lehmann syndrome28.3LHX3, LHX4, PHF6, HESX1, PROP1, SOX3
5sheehan syndrome28.2INS, IGF1, CRH, PRL, POMC
6adrenal hypoplasia28.0NR0B1, NR5A1, POMC
7traumatic brain injury27.7INS, IGF1, GH1, CRH, PRL, SOD1
8brain injury27.6INS, IGF1, GH1, CRH, PRL, SOD1
9pituitary hypoplasia27.6PBX1, LHX3, LHX4, GH1, OTX2, HESX1
10anophthalmia27.5LHX4, INS, OTX2, HESX1, PRL, SOD1
11adrenocorticotropic hormone deficiency27.3CRH, POMC
12acid-labile subunit27.1IGFBP3, IGF1, GH1
13turner syndrome27.0IGFBP3, IGF1, GH1
14lymphocytic hypophysitis27.0IGF1, PRL, POMC
15panhypopituitarism26.8LHX3, LHX4, IGF1, GH1, HESX1, TSHB
16hemorrhagic fever with renal syndrome26.8INS, IGF1, PRL
17pituitary apoplexy26.6INS, GH1, PRL, POMC
18empty sella syndrome26.5INS, IGFBP3, PRL, POMC
19headache26.2INS, IGF1, PRL, SOD1
20growth hormone deficiency25.6PBX1, LHX3, LHX4, INS, IGFBP3, IGF1
2121-hydroxylase deficiency25.4NR0B1, NR5A1, CRH, POMC
22hyperprolactinemia25.2INS, IGFBP3, IGF1, GH1, CRH, PRL
23klinefelter's syndrome24.6INS, NR0B1, NR5A1, PRL, PROP1, POMC
24myotonic dystrophy24.5INS, IGFBP3, IGF1, GH1, CRH, PRL
25acromegaly24.4PBX1, INS, IGFBP3, IGF1, GH1, CRH
26anorexia nervosa24.0PBX1, INS, IGFBP3, IGF1, GH1, CRH
27hypothyroidism23.7PBX1, LHX3, LHX4, INS, IGFBP3, IGF1
28obesity22.7PBX1, INS, IGFBP3, IGF1, GH1, NR0B1
29pituitary adenoma22.1PBX1, INS, IGFBP3, IGF1, GH1, NR0B1
30adenoma22.0PBX1, INS, IGFBP3, IGF1, GH1, NR0B1
31thyroiditis21.9PBX1, LHX3, INS, IGFBP3, IGF1, GH1
32neonatal thyrotoxicosis13.6LHX3, PROP1
33growth hormone deficient dwarfism13.6GH1, POU1F1
34tsh producing pituitary tumor13.5GH1, PRL
35chromophobe adenoma13.5GH1, PRL
36mccune albright syndrome13.5GH1, PRL
37laron dwarfism13.4IGF1, GH1
38prolactin producing pituitary tumor13.4PRL, POMC
39insulin-like growth factor i deficiency13.3IGF1, GH1
40marasmus13.3IGFBP3, GH1
41obstructive hydrocephalus13.3IGF1, PRL
42sexual disorder13.3INS, PRL
43robinow syndrome13.3IGF1, GH1
44fetal adenoma13.3GH1, PRL
45adrenal gland hyperfunction13.3INS, PRL
46hypothalamic disease13.3GH1, CRH, PRL
47neurogenic diabetes insipidus13.2PRL, POMC
48diffuse idiopathic skeletal hyperostosis13.2IGFBP3, IGF1
49congenital hypothyroidism13.2IGF1, TSHB, POU1F1
50cushing's syndrome13.2GH1, CRH, POMC

Graphical network of the top 20 diseases related to pituitary hormone deficiency:



Graphical network of diseases related to pituitary hormone deficiency

Clinical Features for Pituitary Hormone Deficiency

Drugs & Therapeutics for Pituitary Hormone Deficiency

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT
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Approved drugs:

Search CenterWatch for pituitary hormone deficiency

Drug clinical trials:

Search ClinicalTrials for pituitary hormone deficiency

Search NIH Clinical Center for pituitary hormone deficiency

Search CenterWatch for pituitary hormone deficiency

Genetic Tests for Pituitary Hormone Deficiency

Anatomical Context for Pituitary Hormone Deficiency

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22MalaCards
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MalaCards organs/tissues related to pituitary hormone deficiency:

22
Thyroid, Adrenal gland, Pituitary

Phenotypes for genes affiliated with Pituitary Hormone Deficiency

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25MGI
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MGI Mouse Phenotypes related to pituitary hormone deficiency:

25
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1hearing/vestibular/ear phenotypeMP:00053778.8HESX1, OTX2, IGF1, LHX3, PBX1, SOD1
2endocrine/exocrine gland phenotypeMP:00053798.5OTX2, LHX3, LHX4, NR5A1, HESX1, PROP1
3respiratory system phenotypeMP:00053887.9PROP1, HESX1, CRH, OTX2, TBCE, IGF1
4growth/size phenotypeMP:00053787.3INS, GH1, NR5A1, CRH, PROP1, SOX3
5mortality/agingMP:00107687.3OTX2, PBX1, POU1F1, SOX3, PROP1, NR5A1
6behavior/neurological phenotypeMP:00053867.2POMC, PROP1, PBX1, TBCE, OTX2, NR5A1
7nervous system phenotypeMP:00036316.3CRH, HESX1, PRL, PROP1, SOX3, POU1F1
8reproductive system phenotypeMP:00053896.1LHX3, INS, IGF1, GH1, OTX2, NR0B1
9homeostasis/metabolism phenotypeMP:00053765.0NR5A1, CRH, PRL, PROP1, SOD1, SOX3

Publications for genes affiliated with Pituitary Hormone Deficiency

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35PubMed
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Articles related to pituitary hormone deficiency:

(show top 50)    (show all 90)
idTitleAuthorsYearAffiliating Genes
1A large deletion of PROP1 gene in patients with combi ned pituitary hormone deficiency from two unrelated Chinese pedigrees. (20395664)Zhang H.... Shi D.2010PROP1
2A novel mutation (V101A) of the LHX4 gene in a Japane se patient with combined pituitary hormone deficiency. (19856252)Tajima T.... Fujieda K.2010LHX4
3ANE syndrome caused by mutated RBM28 gene: a novel et iology of combined pituitary hormone deficiency. (20231366)Spiegel R.... Tenenbaum-Rakover Y.2010RBM28
4Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD). (19128366)Kelberman D.... Dattani M.T.2009PROP1
5A novel recessive splicing mutation in the POU1F1 gen e causing combined pituitary hormone deficiency. (19498317)Carlomagno Y.... Giordano M.2009GH1, POU1F1
6Sex steroid replacement for induction of puberty in multiple pituitary hormone deficiency. (19337185)Walvoord E.2009PRL
7A novel germline mutation, IVS4+1G>A, of the POU1F1 gene underlying combined pituitary hormone deficiency. (18059085)Snabboon T.... Shotelersuk V.2008PRL, TSHB, GH1
8Three novel missense mutations within the LHX4 gene are associated with variable pituitary hormone deficiencies. (18073311)Pfaeffle R.W.... Rhodes S.J.2008LHX4
9A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency. (18728160)Diaczok D.... Radovick S.2008OTX2, LHX3, PROP1
10Prevalence of GH and other anterior pituitary hormone deficiencies in adults with nonsecreting pituitary microadenomas and normal serum IGF-1 levels. (18221393)Yuen K.C.... Friedman T.C.2008IGF1
11Molecular analysis of PROP1, PIT1, HESX1, LHX3, and LHX4 shows high frequency of PROP1 mutations in patients with familial forms of combined pituitary hormone deficiency. (18157385)Vieira T.C.... Abucham J.2007LHX3, PROP1, POU1F1
12A novel missense mutation (P366T) of the LHX4 gene causes severe combined pituitary hormone deficiency with pituitary hypoplasia, ectopic posterior lobe and a poorly developed sella turcica. (17527005)Tajima T.... Fujieda K.2007PBX1, GH1, LHX4
13Long-term follow-up of combined pituitary hormone deficiency in two siblings with a Prophet of Pit-1 gene mutation. (17162714)Georgopoulos N.A.... Panidis D.2006PRL, PROP1, POU1F1
14Clinical case seminar: a novel LHX3 mutation presenting as combined pituitary hormonal deficiency. (16394081)Bhangoo A.P.... Rhodes S.J.2006IGF1, IGFBP3, PRL
15Identification and functional analysis of the novel S179R POU1F1 mutation associated with combined pituitary hormone deficiency. (16968807)Miyata I.... Brue T.2006PRL, TSHB, GH1
16Waxing and waning of a pituitary mass in a young woman with combined pituitary hormone deficiency (CPHD) due to a PROP-1 mutation. (16703408)Nascif S.O.... Abucham J.2006PROP1
17The natural history of the R120C PROP1 mutation reveals a wide phenotypic variability in two untreated adult brothers with combined pituitary hormone deficiency. (17526949)Vieira T.C.... Abucham J.2006PROP1
18Genetic screening of combined pituitary hormone deficiency: experience in 195 patients. (16735499)Reynaud R.... Barlier A.2006LHX3, PROP1, POU1F1
19Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency. (15928241)Turton J.P.... Dattani M.T.2005PRL, GH1, POU1F1
20Mutation analysis of POUF-1, PROP-1 and HESX-1 show low frequency of mutations in children with sporadic forms of combined pituitary hormone deficiency and septo-optic dysplasia. (15670191)Rainbow L.A.... Kirk J.M.2005SOD1, PROP1, POU1F1
21Three novel mutations in POU1F1 in Israeli patients with combined pituitary hormone deficiency. (15844473)Gat-Yablonski G.... Phillip M.2005PRL, POU1F1
22A novel PROP1 gene mutation (157delA) in Japanese siblings with combined anterior pituitary hormone deficiency. (15521968)Tatsumi K.I.... Amino N.2004PROP1
23The de novo Q167K mutation in the POU1F1 gene leads to combined pituitary hormone deficiency in an Italian patient. (12904605)Malvagia S.... Zammarchi E.2003PRL, GH1, POU1F1
24Familial combined pituitary hormone deficiency due to a novel mutation R99Q in the hot spot region of Prophet of Pit-1 presenting as constitutional growth delay. (12519826)Vieira T.C.... Abucham J.2003PROP1, POU1F1
25New N-terminal located mutation (Q4ter) within the POU1F1-gene (PIT-1) causes recessive combined pituitary hormone deficiency and variable phenotype. (12932747)Salemi S.... Mullis P.E.2003POU1F1
26PROP-1 gene mutation (R120C) causing combined pituitary hormone deficiencies with variable clinical course in eight siblings of one Jewish Moroccan family. (14614227)Lazar L.... Phillip M.2003PROP1
27Growth without growth hormone: growth pattern and final height of five patients with idiopathic combined pituitary hormone deficiency. (12807508)Lazar L.... Phillip M.2003IGF1, GH1
28A novel mutation in PIT-1: phenotypic variability in familial combined pituitary hormone deficiencies. (11924936)Gat-Yablonski G.... Phillip M.2002POU1F1
29Adrenal hypoplasia congenita with multiple pituitary hormone deficiency without documented mutation in DAX1 or SF1 gene. (12083815)Shalitin S.... Weintrob N.2002NR5A1, NR0B1
30Familial combined pituitary hormone deficiency caused by PROP-1 gene mutation. Growth patterns and MRI studies in untreated subjects. (12006708)Crone J.... Frisch H.2002PROP1, POU1F1
31Adrenocorticotrope deficiency with clinical evidence for late onset in combined pituitary hormone deficiency caused by a homozygous 301-302delAG mutation of the PROP1 gene. (12812307)Lamesch C.... Paschke R.2002POMC, PRL, GH1
32LHX3 transcription factor mutations associated with combined pituitary hormone deficiency impair the activation of pituitary target genes. (11255008)Sloop K.W.... Rhodes S.J.2001LHX3
33Insufficient adrenarche in patients with combined pituitary hormone deficiency caused by a PROP-1 gene defect. (11592567)Voutetakis A.... Dacou-Voutetakis C.2001CRH, PROP1
34Combined pituitary hormone deficiency and pituitary hypoplasia due to a mutation of the Pit-1 gene. (10792348)Frisch H.... PfAoffle R.2000POU1F1
35Central hypocortisolism as part of combined pituitary hormone deficiency due to mutations of PROP-1 gene. (11022176)Asteria C.... Beck-Peccoz P.2000POMC, PRL, INS
36MR imaging of the pituitary gland in children and young adults with congenital combined pituitary hormone deficiency associated with PROP1 mutations. (10658742)Fofanova O.... Yamashita S.2000PROP1, POU1F1
37Cloning, characterization, and physical mapping of the canine Prop-1 gene (PROP1): exclusion as a candidate for combined pituitary hormone deficiency in German shepherd dogs. (10773688)Lantinga-van Leeuwen I.S.... van Oost B.A.2000PROP1, POU1F1
38Molecular analysis of LHX3 and PROP-1 in pituitary hormone deficiency patients with posterior pituitary ectopia. (10946868)Sloop K.W.... Rhodes S.J.2000LHX3, PROP1
39'Hot spot' in the PROP1 gene responsible for combined pituitary hormone deficiency. (10323394)Deladoey J.... Mullis P.E.1999PROP1
40Combined pituitary hormone deficiency in an inbred Brazilian kindred associated with a mutation in the PROP-1 gene. (10329025)Nogueira C.R.... Kopp P.1999PROP1
41Combined pituitary hormone deficiency: role of Pit-1 and Prop-1. (10626543)Pfaffle R.W.... Kentrup H.1999PRL, PROP1, POU1F1
42Mutations in PROP1 cause familial combined pituitary hormone deficiency. (9462743)Wu W.... Rosenfeld M.G.1998PROP1, POU1F1
43Compound heterozygous deletion of the PROP-1 gene in children with combined pituitary hormone deficiency. (9661653)Fofanova O.... Yamashita S.1998PRL, PROP1, POU1F1
44Rarity of PIT1 involvement in children from Russia with combined pituitary hormone deficiency. (9632165)Fofanova O.V.... Yamashita S.1998PRL, POU1F1
45A mutational hot spot in the Prop-1 gene in Russian children with combined pituitary hormone deficiency. (11081182)Fofanova O.V.... Yamashita S.1998PRL, PROP1
46Congenital multiple anterior pituitary hormone deficiencies. An approach of pituitary ontogenesis (9686002)Brue T.... Enjalbert A.1997NR5A1, POU1F1
47A new mutation of the gene encoding the transcription factor Pit-1 is responsible for combined pituitary hormone deficiency. (8768831)Pellegrini-Bouiller I.... Enjalbert A.1996PRL, TSHB, GH1
48A novel E250X mutation of the PIT1 gene in a patient with combined pituitary hormone deficiency. (7670563)Irie Y.... Amino N.1995POU1F1
49A 'hot spot' in the Pit-1 gene responsible for combined pituitary hormone deficiency: clinical and molecular correlates. (7852536)Cohen L.E.... Radovick S.1995PRL, TSHB, GH1
50Evaluation of adult idiopathic growth hormone deficiency with other pituitary hormones deficiency (2171885)Gao T.S.... Gao S.M.1990POMC

Expression for genes affiliated with Pituitary Hormone Deficiency

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1BioGPS
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Expression patterns in normal tissues for genes affiliated with Pituitary Hormone Deficiency

Pathways for genes affiliated with Pituitary Hormone Deficiency

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34PharmGKB, 10EMD Millipore, 41Thomson Reuters
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Compounds for genes affiliated with Pituitary Hormone Deficiency

Sources:
32Novoseek , 9DrugBank, 34PharmGKB, 18HMDB, 42Tocris Bioscience
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Compounds related to pituitary hormone deficiency according to GeneDecks:

(show top 50)    (show all 92)
idCompoundScoreTop Affiliating Genes
1quinagolide32 9.9IGF1, GH1, PRL
2acth 1-2432 9.9PRL, CRH, POMC
311 deoxycortisol32 9.7PRL, POMC, CRH
4fenfluramine32 9 9 11.7POMC, PRL, IGFBP3, CRH
5mecasermin32 9 9 11.6INS, IGFBP3, IGF1
6naloxone32 34 9 9 12.6POMC, CRH, PRL, GH1
7lanreotide32 9.6IGFBP3, IGF1, GH1, PRL
8cabergoline32 9 9 11.6GH1, PRL, IGF1, IGFBP3
917-hydroxyprogesterone32 18 10.6POMC, PRL, CRH, PBX1
10carbamazepine32 34 9 9 12.5CRH, PRL, POMC, IGFBP3
11oxandrolone32 9 9 11.5IGF1, IGFBP3, GH1, INS
12pyridostigmine32 9 9 11.4IGFBP3, IGF1, PRL, CRH, GH1
13ptx132 9.4POMC, POU1F1, NR5A1
14megestrol acetate32 9.4POMC, IGF1, IGFBP3
155-hydroxytryptophan32 9.4PRL, GH1, CRH
16opiate32 9.4CRH, PRL, POMC, GH1
17ghrp32 9.3IGF1, IGFBP3, GH1, PRL, PBX1
18l-nmma32 9.3CRH, IGF1, SOD1, GH1
19clonidine32 9 9 11.3IGFBP3, PRL, POMC, GH1, IGF1
20cortisone32 18 10.2INS, GH1, POMC, CRH, IGF1
21creatinine32 9.2GH1, CRH, POMC, IGFBP3, IGF1
22bromocriptine32 9 9 11.2POU1F1, POMC, PRL, IGF1, IGFBP3, GH1
23triiodothyronine32 9.1IGF1, POMC, TSHB, IGFBP3, PRL, GH1
24naltrexone32 34 9 9 12.1IGF1, POMC, GH1, CRH, IGFBP3, PRL
25metformin32 34 9 9 12.1INS, IGF1, GH1, POMC
26clomiphene citrate32 9.0PRL, GH1, IGF1, CRH, IGFBP3, INS
27epinephrine32 9 18 9 11.9CRH, GH1, POMC, IGFBP3, INS, PRL
28corticosterone32 18 9.9PRL, CRH, GH1, NR5A1, POMC
29estradiol32 9 18 9 11.8PRL, POMC, PBX1, NR5A1, CRH
30hexarelin32 8.8CRH, POMC, PRL, PBX1, IGFBP3, IGF1
31norepinephrine32 9 18 9 11.7IGFBP3, POMC, CRH, INS, PRL, GH1
32estrone32 9 18 9 11.7NR5A1, GH1, IGFBP3, IGF1, PRL
33octreotide32 42 9 9 11.7CRH, POMC, PRL, GH1, IGF1, IGFBP3
34hydrocortisone32 9 9 10.6PBX1, CRH, IGF1, GH1, INS, PRL
35glycerol32 9 18 9 11.6INS, IGFBP3, GH1, NR0B1, POMC, CRH
36vitamin d32 8.4IGFBP3, CRH, IGF1, GH1, POU1F1, NR5A1
37thyroxine32 18 9.4INS, IGFBP3, IGF1, GH1, CRH, TSHB
38androstenedione32 18 9.3POMC, PBX1, INS, IGFBP3, IGF1, PRL
39alanine32 8.1POMC, POU1F1, INS, IGFBP3, SOX3, SOD1
40testosterone32 9 18 9 11.1PRL, NR5A1, PBX1, IGFBP3, NR0B1, PROP1
41ribonucleic acid32 7.9POU1F1, POMC, PRL, GH1, IGFBP3, IGF1
42dhea32 7.8POMC, PRL, CRH, GH1, IGF1, IGFBP3
43arginine32 7.7PBX1, INS, CRH, SOD1, IGF1, GH1
44dehydroepiandrosterone sulfate32 7.5POMC, PRL, PBX1, INS, IGFBP3, IGF1
45dexamethasone32 42 34 9 9 11.4NR0B1, CRH, PBX1, PRL, INS, POMC
46progesterone32 42 9 18 9 11.1IGF1, PBX1, IGFBP3, CRH, PRL, NR5A1
47steroid32 6.9PRL, PBX1, POU1F1, POMC, PROP1, IGFBP3
48gnrh32 6.6POMC, PROP1, HESX1, CRH, NR5A1, NR0B1
49estrogen32 6.4NR5A1, NR0B1, GH1, CRH, TSHB, PRL
50acth32 6.1POU1F1, PROP1, PRL, POMC, TSHB, INS

GO Terms for genes affiliated with Pituitary Hormone Deficiency

Sources:
12Gene Ontology
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Cellular components related to pituitary hormone deficiency according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1insulin-like growth factor binding protein complexGO:0169429.5IGFBP3, IGF1
2extracellular spaceGO:0056158.1IGFBP3, IGF1, GH1, CRH, SOD1, POMC
3extracellular regionGO:0055767.5INS, POMC, SOD1, PRL, TSHB, CRH

Biological processes related to pituitary hormone deficiency according to GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1medial motor column neuron differentiationGO:02152610.2LHX3, LHX4
2positive regulation of insulin-like growth factor receptor signaling pathwayGO:0435689.7IGFBP3, IGF1, GH1
3positive regulation of glycolysisGO:0458219.6IGF1, INS
4pituitary gland developmentGO:0219839.6LHX3, NR0B1, SOX3
5regulation of multicellular organism growthGO:0400149.5SOD1, PRL, IGF1
6positive regulation of phosphatidylinositol 3-kinase cascadeGO:0140689.4GH1, IGF1, INS
7positive regulation of MAPK cascadeGO:0434109.2IGF1, IGFBP3, INS
8positive regulation of peptidyl-tyrosine phosphorylationGO:0507319.1INS, IGF1, GH1
9adrenal gland developmentGO:0303258.9NR0B1, NR5A1, CRH
10positive regulation of transcription from RNA polymerase II promoterGO:0459448.4PROP1, POMC, POU1F1, NR5A1, IGF1, LHX3

Molecular functions related to pituitary hormone deficiency according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1prolactin receptor bindingGO:0051489.7PRL, GH1
2sequence-specific DNA binding transcription factor activityGO:0037009.0LHX3, LHX4, OTX2, HESX1, PROP1, POU1F1
3hormone activityGO:0051798.3CRH, PRL, GH1, IGF1, INS, POMC
4sequence-specific DNA bindingGO:0435657.6LHX3, LHX4, OTX2, NR0B1, NR5A1, HESX1

Sources for Pituitary Hormone Deficiency

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS