MCID: PTT001
MIFTS: 39

Pituitary Hypoplasia malady

Summaries for Pituitary Hypoplasia

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MalaCards based summary: Pituitary Hypoplasia is related to septooptic 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 9 11 60


External Ids:

Disease Ontology9 DOID:7378
NCIt38 C27343

Related Diseases for Pituitary Hypoplasia

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

(show top 50)    (show all 96)
idRelated DiseaseScoreTop Affiliating Genes
1septooptic dysplasia30.8SOD1, HESX1
2renal dysplasia30.6BMP2
3dwarfism30.2POU1F1, PROP1, GHRH, GHRHR, GH1
4holoprosencephaly29.4SHH, LHX4, LHX3, TGIF1, BMP4, PROP1
5growth hormone deficiency29.2PRL, HESX1, POU1F1, POMC, SOX3, PROP1
6hypopituitarism29.2SOX3, LHX4, LHX3, POMC, POU1F1, GH1
7pituitary tumors28.5POMC, GH1, GHRHR, POU1F1, PRL, PROP1
8schizencephaly10.5SHH
9anophthalmia plus syndrome10.5HESX1, OTX2
10semilobar holoprosencephaly10.5SHH
11single median maxillary central incisor10.5SHH
12anophthalmia/microphthalmia10.4OTX2
13melancholia10.4POMC
14zollinger-ellison syndrome10.4GHRH
15endogenous depression10.4POMC
16kallmann syndrome10.4PROP1, HESX1, LHX3
17colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas10.4BMP2, BMP4
18fibrodysplasia ossificans progressiva10.3BMP2, BMP4
19growth hormone deficiency, isolated, type ib10.3GHRHR, GH1
20isolated growth hormone deficiency10.3GH1, POU1F1
21osseous heteroplasia, progressive10.3BMP2, BMP4
22synostosis10.3SHH, BMP4
23cleft palate, isolated10.2BMP4, BMP2, SHH
24vipoma10.2GHRH, GH1
25gonadal disease10.2POMC, GH1
26cushing's syndrome10.2POMC, GH1
27pituitary apoplexy10.2POMC, PRL
28hypoadrenalism10.2POMC, GH1
29pituitary carcinoma10.2PRL, POMC
30sheehan syndrome10.2POMC, PRL
31gigantism10.2PRL, GH1
32empty sella syndrome10.2POMC, PRL
33diabetes insipidus, neurohypophyseal10.2POMC, PRL
34nelson syndrome10.2POMC, PRL
35multiple endocrine neoplasia 110.2PRL, GHRH, GHRHR
36chromophobe adenoma10.2GH1, PRL
37mccune-albright syndrome, somatic, mosaic10.2PRL, GH1
38pituitary gland disease10.1PRL, GH1
39pituitary gigantism10.1PRL, GH1
40hypothalamic disease10.1PRL, GH1
41medulloblastoma10.1SHH, BMP2, OTX2
42lung cancer10.1BMP2, BMP4, GHRH, GHRHR
43holoprosencephaly-910.1
44worster drought syndrome10.1
45combined pituitary hormone deficiency10.1
46osteosarcoma, somatic10.1GHRHR, GHRH, BMP4, BMP2
47prostatic hypertrophy10.1PRL, GH1
48glucagonoma10.1GHRH, GH1
49prostate cancer10.1TGIF1, BMP2, GHRH, GHRHR
50diabetes insipidus10.1POMC, PRL, 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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Search NIH Clinical Center for Pituitary Hypoplasia

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:

31
Pituitary, Testes

Animal Models for Pituitary Hypoplasia or affiliated genes

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MGI Mouse Phenotypes related to Pituitary Hypoplasia:

35 (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 34)
idTitleAuthorsYear
1
Lhx4 deficiency: increased cyclin-dependent kinase inhibitor expression and pituitary hypoplasia. (25668206)
2015
2
A rare case of type 1 diabetes mellitus with pituitary hypoplasia. (25220923)
2014
3
Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia. (23432975)
2013
4
Pituitary stalk interruption syndrome and isolated pituitary hypoplasia may be caused by mutations in holoprosencephaly-related genes. (23476075)
2013
5
Hydranencephaly, pituitary hypoplasia, and anophthalmia in a male infant. (22610272)
2012
6
A novel frame shift mutation in the GHRH receptor gene in familial isolated GH deficiency: early occurrence of anterior pituitary hypoplasia. (21816782)
2011
7
De novo terminal 22q12.3q13.3 duplication with pituitary hypoplasia. (19839043)
2009
8
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
9
Mechanisms underlying pituitary hypoplasia and failed cell specification in Lhx3-deficient mice. (18037398)
2008
10
Pituitary hypoplasia and growth hormone deficiency in a woman with glycogen storage disease type Ia: a case report. (18564411)
2008
11
Pituitary hypoplasia and growth hormone deficiency in Coffin-Siris syndrome. (18203175)
2008
12
Worster-drought syndrome with ectopic neurohypophysis and pituitary hypoplasia. A case report. (24256897)
2008
13
Senescence mediates pituitary hypoplasia and restrains pituitary tumor growth. (17975001)
2007
14
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
15
Hypothalamic 3',5'-cyclic adenosine monophosphate response element-binding protein loss causes anterior pituitary hypoplasia and dwarfism in mice. (16141355)
2006
16
Worster-Drought syndrome (congenital bilateral perisylvian syndrome) with posterior pituitary ectopia, pituitary hypoplasia, empty sella and panhypopituitarism: a patient report. (16759040)
2006
17
Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies. (16835935)
2006
18
Pituitary hypoplasia in Pttg-/- mice is protective for Rb+/- pituitary tumorigenesis. (15919720)
2005
19
Congenital bilateral perisylvian syndrome with pituitary hypoplasia and ectopic neurohypophysis. (15168097)
2004
20
Pituitary hypoplasia and respiratory distress syndrome in Prop1 knockout mice. (15459176)
2004
21
Agenesis of the internal carotid artery and congenital pituitary hypoplasia: proposal of a cause of congenital hypopituitarism. (12856176)
2003
22
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
23
Pituitary hypoplasia and lactotroph dysfunction in mice deficient for cyclin-dependent kinase-4. (12130566)
2002
24
Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia. (11136712)
2001
25
Combined pituitary hormone deficiency and pituitary hypoplasia due to a mutation of the Pit-1 gene. (10792348)
2000
26
Pituitary hypoplasia in patients with a mutation in the growth hormone-releasing hormone receptor gene. (10782778)
2000
27
Neuronal defects and posterior pituitary hypoplasia in mice lacking the receptor tyrosine phosphatase PTPsigma. (10080192)
1999
28
Del(14)(q22.1q23.2) in a patient with anophthalmia and pituitary hypoplasia. (9605291)
1998
29
Severe congenital hypopituitarism with low prolactin levels and age-dependent anterior pituitary hypoplasia: a clue to a PIT-1 mutation. (9627600)
1998
30
Anterior pituitary hypoplasia and dwarfism in mice lacking the dopamine transporter. (9247269)
1997
31
Association of ectopic posterior pituitary and anterior pituitary hypoplasia with absence of the left internal carotid. (8961130)
1996
32
Pituitary hypoplasia associated with a single central maxillary incisor. (8961131)
1996
33
Imperforate anus, bilateral hydronephrosis, bilateral undescended testes and pituitary hypoplasia: a variant of Hall-Pallister syndrome or a new syndrome. (8580638)
1995
34
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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Search GEO for disease gene expression data for Pituitary Hypoplasia.

Pathways for genes affiliated with Pituitary Hypoplasia

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Pathways related to Pituitary Hypoplasia according to GeneCards Suite gene sharing:

(show all 22)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9BMP4, SHH
29.8BMP4, BMP2
39.5BMP4, BMP2, SHH
49.5GHRHR, GHRH, POMC
59.5PRL, GH1
69.4BMP4, GH1, BMP2
7
Show member pathways
9.2SHH, GHRHR, GHRH, POMC
8
Show member pathways
9.1BMP4, BMP2, POMC, SHH
9
Show member pathways
9.1BMP2, GH1, GHRH, BMP4
10
Show member pathways
9.1BMP2, BMP4, GHRH, GH1
11
Show member pathways
9.1BMP4, GHRH, GH1, BMP2
12
Show member pathways
9.1GH1, GHRH, BMP4, BMP2
13
Show member pathways
9.1GHRH, BMP2, BMP4, GH1
14
Show member pathways
8.8GHRH, GH1, SOX3, BMP4, BMP2
158.8PBX1, PRL, POU1F1, POMC
16
Show member pathways
8.5PRL, BMP2, BMP4, GHRH, GH1
17
Show member pathways
8.5GH1, POMC, BMP2, BMP4, GHRH, GHRHR
18
Show member pathways
8.3POMC, SHH, GH1, GHRHR, GHRH, PRL
19
Show member pathways
8.2BMP2, GH1, GHRH, BMP4, PTPRS
20
Show member pathways
7.5TGIF1, POMC, GH1, GHRHR, GHRH, BMP2

Compounds for genes affiliated with Pituitary Hypoplasia

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Compounds related to Pituitary Hypoplasia according to GeneCards Suite gene sharing:

(show top 50)    (show all 89)
idCompoundScoreTop Affiliating Genes
1flesinoxan439.6PRL, POMC
2fenfluramine43 28 1211.6GHRH, PRL, POMC
3pyridostigmine43 1210.6GHRH, PRL, GH1
4lanreotide43 2810.6PRL, GHRH, GH1
5quinagolide439.5PRL, GH1
61,25 dihydroxy vitamin d3439.4GH1, BMP2, POU1F1, TGIF1
717-hydroxyprogesterone43 2410.3PBX1, PRL, POMC
8metoclopramide43 49 1211.3PRL, PBX1, GH1
9naltrexone43 28 49 1212.2POMC, PRL, GHRH, GH1
10naloxone43 28 49 1212.2GHRH, GH1, PRL, POMC
11clonidine43 49 28 1212.2GHRH, GH1, PRL, POMC
12octreotide43 59 28 1212.2GHRH, PRL, GH1, POMC
13opiate439.2POMC, PRL, GHRH, GH1
14triiodothyronine439.2PRL, POMC, GHRH, GH1
15vitamin d439.1GHRH, GH1, BMP2, POU1F1, TGIF1
16alendronate43 49 1211.1BMP2, PTPRS, GH1
17dihydrotestosterone43 28 24 1212.0TGIF1, PRL, BMP2, GH1
18thyroxine43 2410.0POMC, GH1, GHRH, PRL
19thymidine43 2410.0TGIF1, POU1F1, GH1, BMP2, BMP4
20bromocriptine43 28 1211.0PRL, GHRH, GH1, POMC, POU1F1
21dehydroepiandrosterone sulfate439.0POMC, PRL, PBX1, GH1
22androstenedione43 249.9GH1, POMC, PRL, PBX1
23levodopa43 129.9GH1, GHRH, PRL, SOD1
24ghrp438.9GH1, GHRHR, GHRH, PBX1, PRL
25hydrocortisone43 2 59 1211.9PRL, GH1, PBX1, POMC
26oligonucleotide438.9POU1F1, BMP2, BMP4, GH1, OTX2, TGIF1
27ascorbic acid43 249.8SOD1, POMC, BMP4, BMP2, TGIF1
28heparin43 28 24 1211.7POMC, BMP2, BMP4, TGIF1, GH1
29adenylate438.7GHRH, POMC, GHRHR, GH1, BMP4
30cycloheximide438.7GHRH, GH1, POMC, BMP2, BMP4
31cyclic amp43 249.5TGIF1, GHRHR, PBX1, GHRH, POU1F1
32hexarelin43 289.5GHRHR, POMC, PRL, PBX1, GHRH, GH1
33creatinine438.4SOD1, TGIF1, POMC, BMP2, GH1
34alanine438.4BMP2, POMC, POU1F1, GH1, SOX3, SOD1
35cysteine438.3TGIF1, LHX3, SOD1, BMP2, GH1, GHRHR
36forskolin43 49 1210.3TGIF1, POU1F1, BMP4, GHRH, POMC, BMP2
37estradiol43 24 1210.3PBX1, PRL, POMC, TGIF1, GHRH, GH1
38zinc43 249.2POU1F1, PBX1, BMP4, SOD1, GH1, TGIF1
39acth438.0HESX1, PBX1, GHRH, POU1F1, POMC, GH1
40gnrh438.0POMC, LHX3, HESX1, GH1, GHRH, PBX1
41glucose438.0GHRHR, GH1, GHRH, BMP2, PBX1, PRL
42dopamine43 28 24 1211.0GH1, GHRH, PRL, BMP2, TGIF1, POMC
43ribonucleic acid437.8BMP4, GHRH, PRL, BMP2, POU1F1, POMC
44testosterone43 59 24 1210.7GH1, TGIF1, POMC, PRL, PROP1, PBX1
45tyrosine437.5POU1F1, BMP4, BMP2, LHX3, PTPRS, PBX1
46progesterone43 28 59 24 1211.5PRL, GH1, POMC, GHRH, BMP4, POU1F1
47estrogen437.5GH1, GHRH, BMP4, BMP2, PBX1, PRL
48arginine437.3GHRH, GHRHR, BMP2, PBX1, PRL, GH1
49dexamethasone43 49 28 1210.3POMC, TGIF1, POU1F1, GHRHR, BMP2, BMP4
50steroid437.2GH1, 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:00056157.6SOD1, SHH, POMC, BMP2, BMP4, GHRH
2nucleusGO:00056347.4LHX4, SHH, SOX3, SOD1, POU1F1, HESX1
3extracellular regionGO:00055767.2GH1, SOD1, GHRH, BMP4, BMP2, PRL

Biological processes related to Pituitary Hypoplasia according to GeneCards Suite gene sharing:

(show all 47)
idNameGO IDScoreTop Affiliating Genes
1somatotropin secreting cell developmentGO:006013310.5POU1F1, GHRHR
2medial motor column neuron differentiationGO:002152610.4LHX3, LHX4
3determination of adult lifespanGO:000834010.4POU1F1, GHRHR
4positive regulation of growth hormone secretionGO:006012410.3GHRH, GHRHR
5growth hormone secretionGO:003025210.3GHRH, GHRHR
6lymphoid progenitor cell differentiationGO:000232010.3SHH, BMP4
7BMP signaling pathway involved in heart inductionGO:000313010.2BMP4, BMP2
8mesenchymal cell proliferation involved in ureteric bud developmentGO:007213810.2BMP4, BMP2
9renal system developmentGO:007200110.2BMP4, SHH
10regulation of odontogenesis of dentin-containing toothGO:004248710.2BMP4, BMP2
11motor neuron axon guidanceGO:000804510.2LHX3, LHX4
12positive regulation of cartilage developmentGO:006103610.2BMP4, BMP2
13dorsal/ventral neural tube patterningGO:002190410.2SHH, BMP4
14cell fate specificationGO:000170810.2SHH, POU1F1, OTX2
15positive regulation of ossificationGO:004577810.2BMP4, BMP2
16cAMP-mediated signalingGO:001993310.2GHRHR, GHRH
17pituitary gland developmentGO:002198310.1BMP4, SOX3, LHX3
18neuron fate commitmentGO:004866310.1BMP4, SHH
19SMAD protein signal transductionGO:006039510.1BMP2, BMP4
20telencephalon developmentGO:002153710.1BMP2, BMP4
21inner ear developmentGO:004883910.0LHX3, SHH, BMP2
22central nervous system developmentGO:000741710.0PROP1, SOX3, SHH
23telencephalon regionalizationGO:002197810.0BMP4, BMP2, SHH
24positive regulation of Wnt signaling pathwayGO:003017710.0BMP2, SHH
25protein localization to nucleusGO:003450410.0BMP4, SHH
26odontogenesis of dentin-containing toothGO:00424759.9BMP4, BMP2, SHH
27positive regulation of insulin-like growth factor receptor signaling pathwayGO:00435689.9GH1, GHRHR, GHRH
28positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.8BMP2, BMP4
29positive regulation of neuron differentiationGO:00456669.8BMP4, BMP2, TGIF1
30positive regulation of JAK-STAT cascadeGO:00464279.8PRL, GH1
31placenta developmentGO:00018909.8SOD1, LHX4, LHX3
32dorsal/ventral pattern formationGO:00099539.8OTX2, PROP1, TGIF1, SHH
33positive regulation of multicellular organism growthGO:00400189.7POU1F1, GHRH, GHRHR, GH1
34embryonic skeletal system developmentGO:00487069.7PBX1, SHH
35negative regulation of apoptotic processGO:00430669.6LHX3, LHX4, PROP1, BMP4
36JAK-STAT cascade involved in growth hormone signaling pathwayGO:00603979.6GH1, PRL
37branching morphogenesis of an epithelial tubeGO:00487549.6BMP4, SHH
38negative regulation of cell proliferationGO:00082859.5BMP4, BMP2, POU1F1, TGIF1
39cell-cell signalingGO:00072679.5SHH, POMC, BMP2, GHRH
40branching involved in ureteric bud morphogenesisGO:00016589.5SHH, PBX1, BMP2, BMP4
41thymus developmentGO:00485389.4PBX1, SOD1, SHH
42organ morphogenesisGO:00098879.3LHX3, LHX4, SOX3, PBX1, BMP2
43positive regulation of transcription, DNA-templatedGO:00458939.3LHX3, SHH, POU1F1, BMP2, BMP4, OTX2
44positive regulation of cell proliferationGO:00082849.3SHH, POU1F1, PBX1, GHRH, GHRHR
45regulation of multicellular organism growthGO:00400149.2PRL, SOD1
46negative regulation of transcription from RNA polymerase II promoterGO:00001229.1SHH, TGIF1, POU1F1, PROP1, BMP2, BMP4
47positive regulation of transcription from RNA polymerase II promoterGO:00459448.7OTX2, LHX3, SHH, POMC, POU1F1, PROP1

Molecular functions related to Pituitary Hypoplasia according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1BMP receptor bindingGO:00707009.9BMP4, BMP2
2prolactin receptor bindingGO:00051489.6GH1, PRL
3RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcriptionGO:00010779.5PBX1, POU1F1, OTX2
4growth factor activityGO:00080839.4BMP2, GH1, BMP4
5chromatin bindingGO:00036829.2PROP1, HESX1, TGIF1, POU1F1
6hormone activityGO:00051799.0PRL, POMC, GH1
7sequence-specific DNA bindingGO:00435658.7PBX1, OTX2, HESX1, TGIF1, LHX4, LHX3
8sequence-specific DNA binding transcription factor activityGO:00037008.6POU1F1, PBX1, PROP1, HESX1, TGIF1, LHX4
9protein bindingGO:00055155.5HESX1, GH1, GHRHR, SHH, BMP2, PBX1

Products for genes affiliated with Pituitary Hypoplasia

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Sources for Pituitary Hypoplasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet