Aliases & Classifications for Pituitary Hypoplasia

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Aliases & Descriptions for Pituitary Hypoplasia:

Name: Pituitary Hypoplasia 8 10 61


External Ids:

Disease Ontology8 DOID:7378
NCIt39 C27343

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.

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:

Search ClinicalTrials for Pituitary Hypoplasia

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, OTX2, HESX1
2MP:00053718.6BMP2, TGIF1, GHRHR, SHH, BMP4, PBX1
3MP:00053808.2SOX3, BMP4, OTX2, BMP2, PBX1, SHH
4MP:00028738.1PBX1, HESX1, SHH, BMP2, BMP4, OTX2
5MP:00053918.0BMP4, HESX1, SHH, PTPRS, SOD1, OTX2
6MP:00053887.9BMP4, OTX2, SHH, PBX1, PROP1, HESX1
7MP:00053817.7BMP2, BMP4, OTX2, PTPRS, SHH, PBX1
8MP:00053707.5SOD1, POMC, GH1, BMP4, GHRH, PBX1
9MP:00053777.5PBX1, HESX1, LHX3, SHH, BMP2, POU1F1
10MP:00053857.5SOD1, TGIF1, SHH, OTX2, PBX1, BMP4
11MP:00107717.4PTPRS, GHRHR, BMP4, PBX1, PRL, POMC
12MP:00053877.1GHRH, SHH, TGIF1, SOD1, POMC, POU1F1
13MP:00053907.0OTX2, GHRHR, BMP4, BMP2, PBX1, SOD1
14MP:00053827.0OTX2, BMP2, PBX1, HESX1, POU1F1, SOX3
15MP:00053846.1BMP2, PBX1, PROP1, POMC, SOD1, SOX3
16MP:00053866.0BMP4, PTPRS, TGIF1, SOD1, POMC, PRL
17MP:00053785.6LHX3, OTX2, GH1, GHRHR, GHRH, BMP4
18MP:00107685.5HESX1, PROP1, POU1F1, POMC, SOD1, SOX3
19MP:00053894.9SHH, PTPRS, TGIF1, LHX3, SOD1, SOX3
20MP:00053794.7HESX1, POU1F1, SOD1, SOX3, PTPRS, SHH
21MP:00053764.2TGIF1, GHRH, BMP4, BMP2, PBX1, PROP1
22MP:00036314.0PBX1, BMP2, BMP4, GHRH, GHRHR, GH1

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
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 60 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 1 60 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 60 24 1110.7GH1, TGIF1, POMC, PRL, PROP1, PBX1
45tyrosine447.5POU1F1, BMP4, BMP2, LHX3, PTPRS, PBX1
46progesterone44 28 60 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 Suite gene sharing:

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

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

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

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1BMP receptor bindingGO:00707009.9BMP2, BMP4
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:00010779.5OTX2, PBX1, POU1F1
4growth factor activityGO:00080839.4GH1, BMP4, BMP2
5chromatin bindingGO:00036829.2PROP1, HESX1, POU1F1, TGIF1
6hormone activityGO:00051799.0POMC, PRL, GH1
7sequence-specific DNA bindingGO:00435658.7OTX2, LHX3, LHX4, TGIF1, POU1F1, HESX1
8sequence-specific DNA binding transcription factor activityGO:00037008.6LHX3, LHX4, TGIF1, POU1F1, HESX1, PROP1
9protein bindingGO:00055155.5SHH, PTPRS, TGIF1, SOD1, HESX1, PRL

Sources for Pituitary Hypoplasia

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet