MCID: PTT001
MIFTS: 48

Pituitary Hypoplasia malady

Endocrine diseases category
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Summaries for Pituitary Hypoplasia

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MalaCards based summary: Pituitary Hypoplasia, also known as pituitary gland hypoplasia, is related to septo-optic dysplasia and renal dysplasia. An important gene associated with Pituitary Hypoplasia is HESX1 (HESX homeobox 1), and among its related pathways are Glypican 3 network and Cardiomyocyte Differentiation through BMP Receptors. The compounds flesinoxan and fenfluramine have been mentioned in the context of this disorder. Affiliated tissues include pituitary and testes, and related mouse phenotypes are taste/olfaction and limbs/digits/tail.

Aliases & Classifications for Pituitary Hypoplasia

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Pituitary Hypoplasia, Aliases & Descriptions:

Name: Pituitary Hypoplasia 8 10
 
Pituitary Gland Hypoplasia 62


Classifications:

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


External Ids:

Disease Ontology8 DOID:7378
NCIt39 C27343

Related Diseases for Pituitary Hypoplasia

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Diseases related to Pituitary Hypoplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 91)
idRelated DiseaseScoreTop Affiliating Genes
1septo-optic dysplasia30.9SOD1, HESX1
2renal dysplasia30.7BMP2
3dwarfism30.2POU1F1, GHRH, GHRHR, GH1, PROP1
4diabetes mellitus29.6BMP2, POMC, SOD1, GH1
5type 1 diabetes mellitus29.6PBX1, GHRH, GH1
6holoprosencephaly29.5LHX3, LHX4, SHH, BMP4, PROP1, HESX1
7panhypopituitarism29.4PROP1, GH1, PRL, HESX1, POU1F1, POMC
8growth hormone deficiency29.3POU1F1, HESX1, PRL, PROP1, GHRH, GHRHR
9hypopituitarism29.2GH1, GHRH, PROP1, LHX3, LHX4, SOX3
10pituitary tumors28.6POMC, POU1F1, GH1, GHRHR, GHRH, BMP2
11schizencephaly10.5SHH
12semilobar holoprosencephaly10.5SHH
13anophthalmia plus syndrome10.5HESX1, OTX2
14single median maxillary central incisor10.5SHH
15anophthalmia/microphthalmia10.5OTX2
16melancholia10.4POMC
17zollinger-ellison syndrome10.4GHRH
18endogenous depression10.4POMC
19kallmann syndrome10.4LHX3, PROP1, HESX1
20pilomatrixoma10.4BMP4, BMP2
21fibrodysplasia ossificans progressiva10.3BMP4, BMP2
22isolated growth hormone deficiency type 1b10.3GHRHR, GH1
23isolated growth hormone deficiency10.3GH1, POU1F1
24progressive osseous heteroplasia10.3BMP4, BMP2
25synostosis10.3SHH, BMP4
26cleft palate10.2SHH, BMP4, BMP2
27vipoma10.2GH1, GHRH
28gonadal disease10.2POMC, GH1
29cushing's syndrome10.2GH1, POMC
30pituitary apoplexy10.2PRL, POMC
31pituitary carcinoma10.2PRL, POMC
32hypoadrenalism10.2POMC, GH1
33sheehan syndrome10.2POMC, PRL
34gigantism10.2GH1, PRL
35empty sella syndrome10.2PRL, POMC
36wermer syndrome10.2PRL, GHRHR, GHRH
37nelson syndrome10.2PRL, POMC
38chromophobe adenoma10.2PRL, GH1
39neurogenic diabetes insipidus10.2POMC, PRL
40mccune albright syndrome10.2PRL, GH1
41pituitary gland disease10.2GH1, PRL
42hypothalamic disease10.2PRL, GH1
43acromegaly10.2GH1, PRL
44medulloblastoma10.1OTX2, SHH, BMP2
45worster drought syndrome10.1
46combined pituitary hormone deficiency10.1
47lung cancer10.1GHRHR, GHRH, BMP4, BMP2
48osteosarcoma10.1BMP2, GHRHR, GHRH, BMP4
49glucagonoma10.1GH1, GHRH
50prostate cancer10.1GHRHR, TGIF1, BMP2, GHRH

Graphical network of the top 20 diseases related to Pituitary Hypoplasia:



Diseases related to pituitary hypoplasia

Symptoms for Pituitary Hypoplasia

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Drugs & Therapeutics for Pituitary Hypoplasia

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Drug clinical trials:

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Genetic Tests for Pituitary Hypoplasia

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Anatomical Context for Pituitary Hypoplasia

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MalaCards organs/tissues related to Pituitary Hypoplasia:

32
Pituitary, Testes

Animal Models for Pituitary Hypoplasia or affiliated genes

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MGI Mouse Phenotypes related to Pituitary Hypoplasia:

36 (show all 22)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053949.1SHH, PTPRS, HESX1, OTX2
2MP:00053718.6SHH, TGIF1, PBX1, BMP2, BMP4, GHRHR
3MP:00053808.2SHH, TGIF1, SOX3, HESX1, PBX1, BMP2
4MP:00028738.1SHH, TGIF1, HESX1, PBX1, BMP2, BMP4
5MP:00053918.0OTX2, BMP4, HESX1, SOD1, PTPRS, SHH
6MP:00053887.9LHX4, SHH, PTPRS, HESX1, PROP1, PBX1
7MP:00053817.7SHH, PTPRS, PBX1, BMP2, BMP4, OTX2
8MP:00053707.5SOD1, POMC, PRL, PBX1, BMP4, GHRH
9MP:00053777.5LHX3, SHH, TGIF1, SOD1, POU1F1, HESX1
10MP:00053857.5SHH, TGIF1, SOD1, POMC, PBX1, BMP2
11MP:00107717.4SHH, PTPRS, POMC, PRL, PBX1, BMP4
12MP:00053877.1SHH, TGIF1, SOD1, POMC, POU1F1, PRL
13MP:00053907.0SHH, PTPRS, TGIF1, SOD1, PBX1, BMP2
14MP:00053827.0LHX3, SHH, PTPRS, TGIF1, SOX3, POU1F1
15MP:00053846.1SOX3, TGIF1, PTPRS, SHH, LHX4, SOD1
16MP:00053866.0SHH, PTPRS, TGIF1, SOX3, SOD1, POMC
17MP:00053785.6POMC, SOX3, TGIF1, PTPRS, SHH, LHX3
18MP:00107685.5SOX3, TGIF1, PTPRS, SHH, LHX4, LHX3
19MP:00053894.9LHX3, SHH, PTPRS, TGIF1, SOX3, SOD1
20MP:00053794.7PTPRS, SOX3, SOD1, POMC, POU1F1, HESX1
21MP:00053764.2LHX3, LHX4, SHH, PTPRS, TGIF1, SOX3
22MP:00036314.0PTPRS, TGIF1, SOX3, SOD1, POMC, POU1F1

Publications for Pituitary Hypoplasia

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Articles related to Pituitary Hypoplasia:

(show all 33)
idTitleAuthorsYear
1
A rare case of type 1 diabetes mellitus with pituitary hypoplasia. (25220923)
2014
2
Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia. (23432975)
2013
3
Pituitary stalk interruption syndrome and isolated pituitary hypoplasia may be caused by mutations in holoprosencephaly-related genes. (23476075)
2013
4
Hydranencephaly, pituitary hypoplasia, and anophthalmia in a male infant. (22610272)
2012
5
A novel frame shift mutation in the GHRH receptor gene in familial isolated GH deficiency: early occurrence of anterior pituitary hypoplasia. (21816782)
2011
6
De novo terminal 22q12.3q13.3 duplication with pituitary hypoplasia. (19839043)
2009
7
Chronic Bilateral Slipped Capital Femoral Epiphysis as an Unusual Presentation of Congenital Panhypopituitarism due to Pituitary Hypoplasia in a 17-Year-Old Female. (20130813)
2009
8
Mechanisms underlying pituitary hypoplasia and failed cell specification in Lhx3-deficient mice. (18037398)
2008
9
Pituitary hypoplasia and growth hormone deficiency in a woman with glycogen storage disease type Ia: a case report. (18564411)
2008
10
Pituitary hypoplasia and growth hormone deficiency in Coffin-Siris syndrome. (18203175)
2008
11
Worster-drought syndrome with ectopic neurohypophysis and pituitary hypoplasia. A case report. (24256897)
2008
12
Senescence mediates pituitary hypoplasia and restrains pituitary tumor growth. (17975001)
2007
13
A 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)
2007
14
Hypothalamic 3',5'-cyclic adenosine monophosphate response element-binding protein loss causes anterior pituitary hypoplasia and dwarfism in mice. (16141355)
2006
15
Worster-Drought syndrome (congenital bilateral perisylvian syndrome) with posterior pituitary ectopia, pituitary hypoplasia, empty sella and panhypopituitarism: a patient report. (16759040)
2006
16
Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies. (16835935)
2006
17
Pituitary hypoplasia in Pttg-/- mice is protective for Rb+/- pituitary tumorigenesis. (15919720)
2005
18
Congenital bilateral perisylvian syndrome with pituitary hypoplasia and ectopic neurohypophysis. (15168097)
2004
19
Pituitary hypoplasia and respiratory distress syndrome in Prop1 knockout mice. (15459176)
2004
20
Agenesis of the internal carotid artery and congenital pituitary hypoplasia: proposal of a cause of congenital hypopituitarism. (12856176)
2003
21
Lack of aberrations of the BMP4, BMP2, and PTX1 genes in a patient with pituitary hypoplasia, os odontoideum, renal dysplasia, and right leg anomalies. (12165803)
2002
22
Pituitary hypoplasia and lactotroph dysfunction in mice deficient for cyclin-dependent kinase-4. (12130566)
2002
23
Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia. (11136712)
2001
24
Combined pituitary hormone deficiency and pituitary hypoplasia due to a mutation of the Pit-1 gene. (10792348)
2000
25
Pituitary hypoplasia in patients with a mutation in the growth hormone-releasing hormone receptor gene. (10782778)
2000
26
Neuronal defects and posterior pituitary hypoplasia in mice lacking the receptor tyrosine phosphatase PTPsigma. (10080192)
1999
27
Del(14)(q22.1q23.2) in a patient with anophthalmia and pituitary hypoplasia. (9605291)
1998
28
Severe congenital hypopituitarism with low prolactin levels and age-dependent anterior pituitary hypoplasia: a clue to a PIT-1 mutation. (9627600)
1998
29
Anterior pituitary hypoplasia and dwarfism in mice lacking the dopamine transporter. (9247269)
1997
30
Association of ectopic posterior pituitary and anterior pituitary hypoplasia with absence of the left internal carotid. (8961130)
1996
31
Pituitary hypoplasia associated with a single central maxillary incisor. (8961131)
1996
32
Imperforate anus, bilateral hydronephrosis, bilateral undescended testes and pituitary hypoplasia: a variant of Hall-Pallister syndrome or a new syndrome. (8580638)
1995
33
Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia. (1509263)
1992

Variations for Pituitary Hypoplasia

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Expression for genes affiliated with Pituitary Hypoplasia

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Expression patterns in normal tissues for genes affiliated with Pituitary Hypoplasia

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Pathways for genes affiliated with Pituitary Hypoplasia

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Pathways related to Pituitary Hypoplasia according to GeneCards/GeneDecks:

(show all 22)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9BMP4, SHH
29.8BMP4, BMP2
39.5BMP4, BMP2, SHH
49.5POMC, GHRH, GHRHR
59.5GH1, PRL
69.5SOX3, PBX1, OTX2
79.4BMP2, BMP4, GH1
89.3BMP4, SOD1, SOX3
9
Show member pathways
9.2SHH, POMC, GHRH, GHRHR
10
Show member pathways
9.1SHH, POMC, BMP2, BMP4
11
Show member pathways
9.1BMP2, BMP4, GHRH, GH1
12
Show member pathways
9.1BMP2, BMP4, GHRH, GH1
13
Show member pathways
9.1BMP2, BMP4, GHRH, GH1
14
Show member pathways
9.1BMP2, BMP4, GHRH, GH1
15
Show member pathways
9.1GH1, GHRH, BMP4, BMP2
16
Show member pathways
8.8GH1, GHRH, BMP4, BMP2, SOX3
178.8POMC, POU1F1, PRL, PBX1
18
Show member pathways
8.5PRL, BMP2, BMP4, GHRH, GH1
19
Show member pathways
8.5GH1, GHRHR, GHRH, BMP4, BMP2, POMC
20
Show member pathways
8.3SHH, POMC, PRL, GHRH, GHRHR, GH1
21
Show member pathways
8.2PTPRS, BMP2, BMP4, GHRH, GH1
22
Show member pathways
7.5SHH, TGIF1, POMC, PRL, BMP2, GHRH

Compounds for genes affiliated with Pituitary Hypoplasia

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Compounds related to Pituitary Hypoplasia according to GeneCards/GeneDecks:

(show top 50)    (show all 89)
idCompoundScoreTop Affiliating Genes
1flesinoxan449.6PRL, POMC
2fenfluramine44 28 1111.6GHRH, PRL, POMC
3pyridostigmine44 1110.6GHRH, PRL, GH1
4lanreotide44 2810.6PRL, GHRH, GH1
5quinagolide449.5PRL, GH1
61,25 dihydroxy vitamin d3449.4GH1, BMP2, POU1F1, TGIF1
717-hydroxyprogesterone44 2410.3PBX1, PRL, POMC
8metoclopramide44 50 1111.3PRL, PBX1, GH1
9naltrexone44 28 50 1112.2POMC, PRL, GHRH, GH1
10naloxone44 28 50 1112.2GHRH, GH1, PRL, POMC
11clonidine44 50 28 1112.2GHRH, GH1, PRL, POMC
12octreotide44 61 28 1112.2GHRH, PRL, GH1, POMC
13opiate449.2POMC, PRL, GHRH, GH1
14triiodothyronine449.2PRL, POMC, GHRH, GH1
15vitamin d449.1GHRH, GH1, BMP2, POU1F1, TGIF1
16alendronate44 50 1111.1BMP2, PTPRS, GH1
17dihydrotestosterone44 28 24 1112.0TGIF1, PRL, BMP2, GH1
18thyroxine44 2410.0POMC, GH1, GHRH, PRL
19thymidine44 2410.0TGIF1, POU1F1, GH1, BMP2, BMP4
20bromocriptine44 28 1111.0PRL, GHRH, GH1, POMC, POU1F1
21dehydroepiandrosterone sulfate449.0POMC, PRL, PBX1, GH1
22androstenedione44 249.9GH1, POMC, PRL, PBX1
23levodopa44 119.9GH1, GHRH, PRL, SOD1
24ghrp448.9GH1, GHRHR, GHRH, PBX1, PRL
25hydrocortisone44 2 61 1111.9PRL, GH1, PBX1, POMC
26oligonucleotide448.9POU1F1, BMP2, BMP4, GH1, OTX2, TGIF1
27ascorbic acid44 249.8SOD1, POMC, BMP4, BMP2, TGIF1
28heparin44 28 24 1111.7POMC, BMP2, BMP4, TGIF1, GH1
29adenylate448.7GHRH, POMC, GHRHR, GH1, BMP4
30cycloheximide448.7GHRH, GH1, POMC, BMP2, BMP4
31cyclic amp44 249.5TGIF1, GHRHR, PBX1, GHRH, POU1F1
32hexarelin44 289.5GHRHR, POMC, PRL, PBX1, GHRH, GH1
33creatinine448.4SOD1, TGIF1, POMC, BMP2, GH1
34alanine448.4BMP2, POMC, POU1F1, GH1, SOX3, SOD1
35cysteine448.3TGIF1, LHX3, SOD1, BMP2, GH1, GHRHR
36forskolin44 50 1110.3TGIF1, POU1F1, BMP4, GHRH, POMC, BMP2
37estradiol44 24 1110.3PBX1, PRL, POMC, TGIF1, GHRH, GH1
38zinc44 249.2POU1F1, PBX1, BMP4, SOD1, GH1, TGIF1
39acth448.0HESX1, PBX1, GHRH, POU1F1, POMC, GH1
40gnrh448.0POMC, LHX3, HESX1, GH1, GHRH, PBX1
41glucose448.0GHRHR, GH1, GHRH, BMP2, PBX1, PRL
42dopamine44 28 24 1111.0GH1, GHRH, PRL, BMP2, TGIF1, POMC
43ribonucleic acid447.8BMP4, GHRH, PRL, BMP2, POU1F1, POMC
44testosterone44 61 24 1110.7GH1, TGIF1, POMC, PRL, PROP1, PBX1
45tyrosine447.5POU1F1, BMP4, BMP2, LHX3, PTPRS, PBX1
46progesterone44 28 61 24 1111.5PRL, GH1, POMC, GHRH, BMP4, POU1F1
47estrogen447.5GH1, GHRH, BMP4, BMP2, PBX1, PRL
48arginine447.3GHRH, GHRHR, BMP2, PBX1, PRL, GH1
49dexamethasone44 50 28 1110.3POMC, TGIF1, POU1F1, GHRHR, BMP2, BMP4
50steroid447.2GH1, POMC, BMP4, GHRH, BMP2, PBX1

GO Terms for genes affiliated with Pituitary Hypoplasia

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Cellular components related to Pituitary Hypoplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056157.6GH1, SHH, SOD1, POMC, BMP2, BMP4
2nucleusGO:0056347.4LHX4, SHH, SOX3, SOD1, POU1F1, HESX1
3extracellular regionGO:0055767.2SOD1, POMC, PRL, BMP2, BMP4, GHRH

Biological processes related to Pituitary Hypoplasia according to GeneCards/GeneDecks:

(show all 47)
idNameGO IDScoreTop Affiliating Genes
1somatotropin secreting cell developmentGO:06013310.5POU1F1, GHRHR
2medial motor column neuron differentiationGO:02152610.4LHX3, LHX4
3determination of adult lifespanGO:00834010.4POU1F1, GHRHR
4positive regulation of growth hormone secretionGO:06012410.3GHRH, GHRHR
5growth hormone secretionGO:03025210.3GHRH, GHRHR
6lymphoid progenitor cell differentiationGO:00232010.3SHH, BMP4
7BMP signaling pathway involved in heart inductionGO:00313010.2BMP4, BMP2
8mesenchymal cell proliferation involved in ureteric bud developmentGO:07213810.2BMP4, BMP2
9renal system developmentGO:07200110.2BMP4, SHH
10regulation of odontogenesis of dentin-containing toothGO:04248710.2BMP4, BMP2
11motor neuron axon guidanceGO:00804510.2LHX3, LHX4
12positive regulation of cartilage developmentGO:06103610.2BMP4, BMP2
13dorsal/ventral neural tube patterningGO:02190410.2SHH, BMP4
14cell fate specificationGO:00170810.2SHH, POU1F1, OTX2
15positive regulation of ossificationGO:04577810.2BMP4, BMP2
16cAMP-mediated signalingGO:01993310.2GHRHR, GHRH
17pituitary gland developmentGO:02198310.1BMP4, SOX3, LHX3
18neuron fate commitmentGO:04866310.1BMP4, SHH
19SMAD protein signal transductionGO:06039510.1BMP2, BMP4
20telencephalon developmentGO:02153710.1BMP2, BMP4
21inner ear developmentGO:04883910.0LHX3, SHH, BMP2
22central nervous system developmentGO:00741710.0PROP1, SOX3, SHH
23telencephalon regionalizationGO:02197810.0BMP4, BMP2, SHH
24positive regulation of Wnt signaling pathwayGO:03017710.0BMP2, SHH
25protein localization to nucleusGO:03450410.0BMP4, SHH
26odontogenesis of dentin-containing toothGO:0424759.9BMP4, BMP2, SHH
27positive regulation of insulin-like growth factor receptor signaling pathwayGO:0435689.9GH1, GHRHR, GHRH
28positive regulation of pathway-restricted SMAD protein phosphorylationGO:0108629.8BMP2, BMP4
29positive regulation of neuron differentiationGO:0456669.8BMP4, BMP2, TGIF1
30positive regulation of JAK-STAT cascadeGO:0464279.8PRL, GH1
31placenta developmentGO:0018909.8SOD1, LHX4, LHX3
32dorsal/ventral pattern formationGO:0099539.8OTX2, PROP1, TGIF1, SHH
33positive regulation of multicellular organism growthGO:0400189.7POU1F1, GHRH, GHRHR, GH1
34embryonic skeletal system developmentGO:0487069.7PBX1, SHH
35negative regulation of apoptotic processGO:0430669.6LHX3, LHX4, PROP1, BMP4
36JAK-STAT cascade involved in growth hormone signaling pathwayGO:0603979.6GH1, PRL
37branching morphogenesis of an epithelial tubeGO:0487549.6BMP4, SHH
38negative regulation of cell proliferationGO:0082859.5BMP4, BMP2, POU1F1, TGIF1
39cell-cell signalingGO:0072679.5SHH, POMC, BMP2, GHRH
40branching involved in ureteric bud morphogenesisGO:0016589.5SHH, PBX1, BMP2, BMP4
41thymus developmentGO:0485389.4PBX1, SOD1, SHH
42organ morphogenesisGO:0098879.3LHX3, LHX4, SOX3, PBX1, BMP2
43positive regulation of transcription, DNA-templatedGO:0458939.3LHX3, SHH, POU1F1, BMP2, BMP4, OTX2
44positive regulation of cell proliferationGO:0082849.3SHH, POU1F1, PBX1, GHRH, GHRHR
45regulation of multicellular organism growthGO:0400149.2PRL, SOD1
46negative regulation of transcription from RNA polymerase II promoterGO:0001229.1SHH, TGIF1, POU1F1, PROP1, BMP2, BMP4
47positive regulation of transcription from RNA polymerase II promoterGO:0459448.7OTX2, LHX3, SHH, POMC, POU1F1, PROP1

Molecular functions related to Pituitary Hypoplasia according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1BMP receptor bindingGO:0707009.9BMP2, BMP4
2prolactin receptor bindingGO:0051489.6GH1, PRL
3RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcriptionGO:0010779.5OTX2, PBX1, POU1F1
4growth factor activityGO:0080839.4GH1, BMP4, BMP2
5chromatin bindingGO:0036829.2PROP1, HESX1, POU1F1, TGIF1
6hormone activityGO:0051799.0POMC, PRL, GH1
7sequence-specific DNA bindingGO:0435658.7OTX2, LHX3, LHX4, TGIF1, POU1F1, HESX1
8sequence-specific DNA binding transcription factor activityGO:0037008.6LHX3, LHX4, TGIF1, POU1F1, HESX1, PROP1
9protein bindingGO:0055155.5SHH, PTPRS, TGIF1, SOD1, HESX1, PRL

Products for genes affiliated with Pituitary Hypoplasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
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36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
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