MCID: PTT001
MIFTS: 48

Pituitary Hypoplasia malady

Endocrine diseases category

Summaries for Pituitary Hypoplasia

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34MalaCards
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MalaCards: Pituitary Hypoplasia, also known as pituitary gland hypoplasia, is related to septo-optic dysplasia and dwarfism. 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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9Disease Ontology, 11DISEASES, 63UMLS, 41NCIt
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Classifications:

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


Aliases & Descriptions:

pituitary hypoplasia 9 11
pituitary gland hypoplasia 63


External Ids:

Disease Ontology9 DOID:7378
NCIt41 C27343

Related Diseases for Pituitary Hypoplasia

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18GeneCards, 19GeneDecks
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Diseases related to Pituitary Hypoplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 92)
idRelated DiseaseScoreTop Affiliating Genes
1septo-optic dysplasia30.3SOD1, HESX1
2dwarfism30.2POU1F1, PROP1, GHRH, GHRHR, GH1
3renal dysplasia30.1BMP2
4hypopituitarism30.0SOX3, LHX4, LHX3, POMC, POU1F1, GH1
5panhypopituitarism30.0GH1, PROP1, PRL, HESX1, POU1F1, POMC
6growth hormone deficiency30.0PRL, HESX1, POU1F1, POMC, SOX3, PROP1
7holoprosencephaly29.8SHH, LHX4, LHX3, TGIF1, BMP4, PROP1
8pituitary tumors29.6POMC, GH1, GHRHR, POU1F1, PRL, PROP1
9worster drought syndrome10.1
10combined pituitary hormone deficiency10.1
11schizencephaly10.1SHH
12anophthalmia plus syndrome10.1HESX1, OTX2
13semilobar holoprosencephaly10.1SHH
14single median maxillary central incisor10.1SHH
15anophthalmia/microphthalmia10.1OTX2
16melancholia10.1POMC
17zollinger-ellison syndrome10.1GHRH
18endogenous depression10.1POMC
19kallmann syndrome10.1PROP1, HESX1, LHX3
20pilomatrixoma10.1BMP2, BMP4
21fibrodysplasia ossificans progressiva10.1BMP2, BMP4
22isolated growth hormone deficiency type 1b10.1GHRHR, GH1
23isolated growth hormone deficiency10.1GH1, POU1F1
24progressive osseous heteroplasia10.1BMP2, BMP4
25synostosis10.1SHH, BMP4
26growth retardation-mild developmental delay-chronic hepatitis syndrome10.1GHRH, GH1
27cleft palate10.1BMP4, BMP2, SHH
28vipoma10.1GHRH, GH1
29gonadal disease10.0POMC, GH1
30cushing's syndrome10.0POMC, GH1
31pituitary apoplexy10.0POMC, PRL
32hypoadrenalism10.0POMC, GH1
33pituitary carcinoma10.0PRL, POMC
34sheehan syndrome10.0POMC, PRL
35gigantism10.0PRL, GH1
36empty sella syndrome10.0POMC, PRL
37neurogenic diabetes insipidus10.0POMC, PRL
38nelson syndrome10.0POMC, PRL
39wermer syndrome10.0PRL, GHRH, GHRHR
40chromophobe adenoma10.0GH1, PRL
41mccune albright syndrome10.0PRL, GH1
42pituitary gland disease10.0PRL, GH1
43acromegaly10.0PRL, GH1
44hypothalamic disease10.0PRL, GH1
45medulloblastoma10.0SHH, BMP2, OTX2
46lung cancer10.0BMP2, BMP4, GHRH, GHRHR
47osteosarcoma10.0GHRHR, GHRH, BMP4, BMP2
48glucagonoma10.0GHRH, GH1
49prostate cancer10.0TGIF1, BMP2, GHRH, GHRHR
50diabetes insipidus10.0POMC, 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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Genetic Tests for Pituitary Hypoplasia

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Anatomical Context for Pituitary Hypoplasia

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34MalaCards
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MalaCards organs/tissues related to Pituitary Hypoplasia:

34
Pituitary, Testes

Animal Models for Pituitary Hypoplasia or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Pituitary Hypoplasia:

38 (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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53PubMed
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Articles related to Pituitary Hypoplasia:

(show all 32)
idTitleAuthorsYear
1
Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia. (23432975)
2013
2
Pituitary stalk interruption syndrome and isolated pituitary hypoplasia may be caused by mutations in holoprosencephaly-related genes. (23476075)
2013
3
Hydranencephaly, pituitary hypoplasia, and anophthalmia in a male infant. (22610272)
2012
4
A novel frame shift mutation in the GHRH receptor gene in familial isolated GH deficiency: early occurrence of anterior pituitary hypoplasia. (21816782)
2011
5
De novo terminal 22q12.3q13.3 duplication with pituitary hypoplasia. (19839043)
2009
6
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
7
Mechanisms underlying pituitary hypoplasia and failed cell specification in Lhx3-deficient mice. (18037398)
2008
8
Pituitary hypoplasia and growth hormone deficiency in a woman with glycogen storage disease type Ia: a case report. (18564411)
2008
9
Pituitary hypoplasia and growth hormone deficiency in Coffin-Siris syndrome. (18203175)
2008
10
Worster-drought syndrome with ectopic neurohypophysis and pituitary hypoplasia. A case report. (24256897)
2008
11
Senescence mediates pituitary hypoplasia and restrains pituitary tumor growth. (17975001)
2007
12
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
13
Hypothalamic 3',5'-cyclic adenosine monophosphate response element-binding protein loss causes anterior pituitary hypoplasia and dwarfism in mice. (16141355)
2006
14
Worster-Drought syndrome (congenital bilateral perisylvian syndrome) with posterior pituitary ectopia, pituitary hypoplasia, empty sella and panhypopituitarism: a patient report. (16759040)
2006
15
Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies. (16835935)
2006
16
Pituitary hypoplasia in Pttg-/- mice is protective for Rb+/- pituitary tumorigenesis. (15919720)
2005
17
Congenital bilateral perisylvian syndrome with pituitary hypoplasia and ectopic neurohypophysis. (15168097)
2004
18
Pituitary hypoplasia and respiratory distress syndrome in Prop1 knockout mice. (15459176)
2004
19
Agenesis of the internal carotid artery and congenital pituitary hypoplasia: proposal of a cause of congenital hypopituitarism. (12856176)
2003
20
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
21
Pituitary hypoplasia and lactotroph dysfunction in mice deficient for cyclin-dependent kinase-4. (12130566)
2002
22
Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia. (11136712)
2001
23
Combined pituitary hormone deficiency and pituitary hypoplasia due to a mutation of the Pit-1 gene. (10792348)
2000
24
Pituitary hypoplasia in patients with a mutation in the growth hormone-releasing hormone receptor gene. (10782778)
2000
25
Neuronal defects and posterior pituitary hypoplasia in mice lacking the receptor tyrosine phosphatase PTPsigma. (10080192)
1999
26
Del(14)(q22.1q23.2) in a patient with anophthalmia and pituitary hypoplasia. (9605291)
1998
27
Severe congenital hypopituitarism with low prolactin levels and age-dependent anterior pituitary hypoplasia: a clue to a PIT-1 mutation. (9627600)
1998
28
Anterior pituitary hypoplasia and dwarfism in mice lacking the dopamine transporter. (9247269)
1997
29
Association of ectopic posterior pituitary and anterior pituitary hypoplasia with absence of the left internal carotid. (8961130)
1996
30
Pituitary hypoplasia associated with a single central maxillary incisor. (8961131)
1996
31
Imperforate anus, bilateral hydronephrosis, bilateral undescended testes and pituitary hypoplasia: a variant of Hall-Pallister syndrome or a new syndrome. (8580638)
1995
32
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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2BioGPS, 16Gene Expression Omnibus DataSets
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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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51PathCards, 39NCBI BioSystems Database, 54QIAGEN, 56Reactome, 13EMD Millipore, 61Thomson Reuters, 52PharmGKB, 31KEGG
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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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46Novoseek, 30IUPHAR, 12DrugBank, 25HMDB, 52PharmGKB, 62Tocris Bioscience, 3BitterDB
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Compounds related to Pituitary Hypoplasia according to GeneCards/GeneDecks:

(show top 50)    (show all 89)
idCompoundScoreTop Affiliating Genes
1flesinoxan469.6PRL, POMC
2fenfluramine46 30 1211.6GHRH, PRL, POMC
3pyridostigmine46 1210.6GHRH, PRL, GH1
4lanreotide46 3010.6PRL, GHRH, GH1
5quinagolide469.5PRL, GH1
61,25 dihydroxy vitamin d3469.4GH1, BMP2, POU1F1, TGIF1
717-hydroxyprogesterone46 2510.3PBX1, PRL, POMC
8metoclopramide46 52 1211.3PRL, PBX1, GH1
9naltrexone46 30 52 1212.2POMC, PRL, GHRH, GH1
10naloxone46 30 52 1212.2GHRH, GH1, PRL, POMC
11clonidine46 52 30 1212.2GHRH, GH1, PRL, POMC
12octreotide46 62 30 1212.2GHRH, PRL, GH1, POMC
13opiate469.2POMC, PRL, GHRH, GH1
14triiodothyronine469.2PRL, POMC, GHRH, GH1
15vitamin d469.1GHRH, GH1, BMP2, POU1F1, TGIF1
16alendronate46 52 1211.1BMP2, PTPRS, GH1
17dihydrotestosterone46 30 25 1212.0TGIF1, PRL, BMP2, GH1
18thyroxine46 2510.0POMC, GH1, GHRH, PRL
19thymidine46 2510.0TGIF1, POU1F1, GH1, BMP2, BMP4
20bromocriptine46 30 1211.0PRL, GHRH, GH1, POMC, POU1F1
21dehydroepiandrosterone sulfate469.0POMC, PRL, PBX1, GH1
22androstenedione46 259.9GH1, POMC, PRL, PBX1
23levodopa46 129.9GH1, GHRH, PRL, SOD1
24ghrp468.9GH1, GHRHR, GHRH, PBX1, PRL
25hydrocortisone46 3 62 1211.9PRL, GH1, PBX1, POMC
26oligonucleotide468.9POU1F1, BMP2, BMP4, GH1, OTX2, TGIF1
27ascorbic acid46 259.8SOD1, POMC, BMP4, BMP2, TGIF1
28heparin46 30 25 1211.7POMC, BMP2, BMP4, TGIF1, GH1
29adenylate468.7GHRH, POMC, GHRHR, GH1, BMP4
30cycloheximide468.7GHRH, GH1, POMC, BMP2, BMP4
31cyclic amp46 259.5TGIF1, GHRHR, PBX1, GHRH, POU1F1
32hexarelin46 309.5GHRHR, POMC, PRL, PBX1, GHRH, GH1
33creatinine468.4SOD1, TGIF1, POMC, BMP2, GH1
34alanine468.4BMP2, POMC, POU1F1, GH1, SOX3, SOD1
35cysteine468.3TGIF1, LHX3, SOD1, BMP2, GH1, GHRHR
36forskolin46 52 1210.3TGIF1, POU1F1, BMP4, GHRH, POMC, BMP2
37estradiol46 25 1210.3PBX1, PRL, POMC, TGIF1, GHRH, GH1
38zinc46 259.2POU1F1, PBX1, BMP4, SOD1, GH1, TGIF1
39acth468.0HESX1, PBX1, GHRH, POU1F1, POMC, GH1
40gnrh468.0POMC, LHX3, HESX1, GH1, GHRH, PBX1
41glucose468.0GHRHR, GH1, GHRH, BMP2, PBX1, PRL
42dopamine46 30 25 1211.0GH1, GHRH, PRL, BMP2, TGIF1, POMC
43ribonucleic acid467.8BMP4, GHRH, PRL, BMP2, POU1F1, POMC
44testosterone46 62 25 1210.7GH1, TGIF1, POMC, PRL, PROP1, PBX1
45tyrosine467.5POU1F1, BMP4, BMP2, LHX3, PTPRS, PBX1
46progesterone46 30 62 25 1211.5PRL, GH1, POMC, GHRH, BMP4, POU1F1
47estrogen467.5GH1, GHRH, BMP4, BMP2, PBX1, PRL
48arginine467.3GHRH, GHRHR, BMP2, PBX1, PRL, GH1
49dexamethasone46 52 30 1210.3POMC, TGIF1, POU1F1, GHRHR, BMP2, BMP4
50steroid467.2GH1, POMC, BMP4, GHRH, BMP2, PBX1

GO Terms for genes affiliated with Pituitary Hypoplasia

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17Gene Ontology
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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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Sources for Pituitary Hypoplasia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet