MCID: PTT001
MIFTS: 46

Pituitary Hypoplasia malady

Endocrine diseases category

Summaries for Pituitary Hypoplasia

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MalaCards: Pituitary Hypoplasia, also known as pituitary gland hypoplasia, is related to hypopituitarism and septo-optic dysplasia. An important gene associated with Pituitary Hypoplasia is SOX3 (SRY (sex determining region Y)-box 3), and among its related pathways are Selected targets of ESR1 and Transcription factors in neurogenesis. The compounds ptx1 and flesinoxan have been mentioned in the context of this disorder. Affiliated tissues include pituitary, testes and hypothalamus, and related mouse phenotypes are adipose tissue and hearing/vestibular/ear.

Aliases & Classifications for Pituitary Hypoplasia

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8Disease Ontology, 10DISEASES, 60UMLS, 39NCIt
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Classifications:

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


Aliases & Descriptions:

pituitary hypoplasia 8 10
pituitary gland hypoplasia 60


External Ids:

Disease Ontology8 DOID:7378
NCIt39 C27343

Related Diseases for Pituitary Hypoplasia

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17GeneCards, 18GeneDecks
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Diseases related to Pituitary Hypoplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 93)
idRelated DiseaseScoreTop Affiliating Genes
1hypopituitarism30.2GHRH, SOX3, HESX1, LHX3, LHX4, GH1
2septo-optic dysplasia30.1SOD1, HESX1
3dwarfism30.1GHRHR, GHRH, GH1, PROP1, POU1F1
4panhypopituitarism30.1GH1, HESX1, LHX3, LHX4, PRL, PROP1
5empty sella syndrome29.9POMC, PRL
6holoprosencephaly29.9POU1F1, PROP1, BMP4, SOX3, HESX1, LHX3
7mental retardation10.0SOX3
8microphthalmia10.0OTX2
9neonatal thyrotoxicosis10.0LHX3
10liver cirrhosis10.0GHRH
11thyroiditis10.0POMC
12carney complex10.0POMC
13myopathy10.0POMC
14hypogonadotropism10.0PRL
15fibrous dysplasia10.0GH1
16coloboma10.0OTX2
17hypertension10.0POMC
18anophthalmia plus syndrome10.0HESX1, OTX2
19melancholia10.0POMC
20neurogenic diabetes insipidus10.0POMC
21deficiency anemia10.0GHRH
22isolated growth hormone deficiency10.0POU1F1, GH1
23isolated growth hormone deficiency type 1b10.0GH1, GHRHR
24panic disorder10.0GHRH, POMC
25adrenocortical carcinoma10.0POMC
26pancreatitis10.0SOD1
27pilomatrixoma10.0BMP2, BMP4
28chronic fatigue syndrome10.0POMC
29ovarian cancer10.0BMP4, BMP2
30exophthalmos10.0PITX1
31kallmann syndrome10.0LHX3, HESX1, PROP1
32infertility10.0GHRH, PRL
33pituitary apoplexy10.0PRL, POMC
34endogenous depression10.0POMC
35zollinger-ellison syndrome10.0GHRH
36klinefelter's syndrome10.0PRL, PROP1
37gigantism10.0PRL, GH1
38pituitary cancer10.0POMC, PRL
39chromophobe adenoma10.0PRL, GH1
40gonadal disease10.0POMC, GH1
41adenocarcinoma10.0BMP2, BMP4, POU1F1
42mccune albright syndrome10.0GH1, PRL
43pituitary gland disease10.0GH1, PRL
44progressive osseous heteroplasia10.0BMP2, BMP4
45cushing's syndrome10.0GH1, POMC
46hypothalamic disease10.0GH1, PRL
47acromegaly10.0GH1, PRL
48amenorrhea10.0POMC, PRL
49nelson syndrome10.0PRL, POMC
50hypoadrenalism10.0POMC, GH1

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



Diseases related to pituitary hypoplasia

Clinical Features for Pituitary Hypoplasia

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Drugs & Therapeutics for Pituitary Hypoplasia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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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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32MalaCards
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MalaCards organs/tissues related to Pituitary Hypoplasia:

32
Pituitary, Testes, Hypothalamus

Animal Models for Pituitary Hypoplasia or affiliated genes

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36MGI
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Publications for Pituitary Hypoplasia

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50PubMed
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Articles related to Pituitary Hypoplasia:

(show top 50)    (show all 55)
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
Mutation in the TBCE gene is associated with hypoparathyroidism-retardation-dysmorphism syndrome featuring pituitary hormone deficiencies and hypoplasia of the anterior pituitary and the corpus callosum. (19491227)
2009
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
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
Corticotroph adenoma of the pituitary in a patient with X-linked adrenal hypoplasia congenita due to a novel mutation of the DAX-1 gene. (16061826)
2005
17
Loss of Gq/11 family G proteins in the nervous system causes pituitary somatotroph hypoplasia and dwarfism in mice. (15713647)
2005
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
Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient. (12519827)
2003
22
Agenesis of the internal carotid artery and congenital pituitary hypoplasia: proposal of a cause of congenital hypopituitarism. (12856176)
2003
23
Endocrine status in patients with optic nerve hypoplasia: relationship to midline central nervous system abnormalities and appearance of the hypothalamic-pituitary axis on magnetic resonance imaging. (14602762)
2003
24
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
25
Pituitary hypoplasia and lactotroph dysfunction in mice deficient for cyclin-dependent kinase-4. (12130566)
2002
26
Adrenal hypoplasia congenita with multiple pituitary hormone deficiency without documented mutation in DAX1 or SF1 gene. (12083815)
2002
27
Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation. (11549674)
2001
28
Unilateral congenital oculomotor nerve palsy, optic nerve hypoplasia and pituitary malformation: a preliminary report. (11262699)
2001
29
Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia. (11136712)
2001
30
Combined pituitary hormone deficiency and pituitary hypoplasia due to a mutation of the Pit-1 gene. (10792348)
2000
31
Pituitary hypoplasia in patients with a mutation in the growth hormone-releasing hormone receptor gene. (10782778)
2000
32
Prolonged activation of the hypothalamus-pituitary-gonadal axis in a child with X-linked adrenal hypoplasia congenita. (10931089)
2000
33
Neuronal defects and posterior pituitary hypoplasia in mice lacking the receptor tyrosine phosphatase PTPsigma. (10080192)
1999
34
Optic nerve hypoplasia with posterior pituitary ectopia: male predominance and nonassociation with breech delivery. (10030584)
1999
35
Absent pituitary gland and hypoplasia of the cerebellar vermis associated with partial ophthalmoplegia and postaxial polydactyly: a variant of orofaciodigital syndrome VI or a new syndrome? (10051020)
1999
36
Del(14)(q22.1q23.2) in a patient with anophthalmia and pituitary hypoplasia. (9605291)
1998
37
Severe congenital hypopituitarism with low prolactin levels and age-dependent anterior pituitary hypoplasia: a clue to a PIT-1 mutation. (9627600)
1998
38
Active hypothalamic-pituitary-gonadal axis in an infant with X-linked adrenal hypoplasia congenita. (9063431)
1997
39
Anterior pituitary hypoplasia and dwarfism in mice lacking the dopamine transporter. (9247269)
1997
40
Optic nerve hypoplasia: absence of posterior pituitary bright signal on magnetic resonance imaging correlates with diabetes insipidus. (8909213)
1996
41
Association of ectopic posterior pituitary and anterior pituitary hypoplasia with absence of the left internal carotid. (8961130)
1996
42
Pituitary hypoplasia associated with a single central maxillary incisor. (8961131)
1996
43
Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: evidence that DAX-1 mutations lead to combined hypothalmic and pituitary defects in gonadotropin production. (8770879)
1996
44
Imperforate anus, bilateral hydronephrosis, bilateral undescended testes and pituitary hypoplasia: a variant of Hall-Pallister syndrome or a new syndrome. (8580638)
1995
45
Expression of DAX-1, the gene responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism, in the hypothalamic-pituitary-adrenal/gonadal axis. (8593542)
1995
46
Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia. (1509263)
1992
47
Magnetic resonance imaging of pituitary stalk hypoplasia. A discrete midline anomaly associated with endocrine abnormalities in septo-optic dysplasia. (2803098)
1989
48
Congenital optic nerve hypoplasia with hypothalamic-pituitary dysplasia. A review of 16 cases. (3976626)
1985
49
Hypothalamic-pituitary function in children with optic nerve hypoplasia. (2983530)
1985
50
Optic nerve hypoplasia: septo-optic-pituitary dysplasia syndrome. (7043865)
1981

Genetic Variations for Pituitary Hypoplasia

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Expression for genes affiliated with Pituitary Hypoplasia

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1BioGPS, 15Gene 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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12EMD Millipore, 51QIAGEN, 37NCBI BioSystems Database, 53Reactome, 29KEGG
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Compounds for genes affiliated with Pituitary Hypoplasia

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44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB, 49PharmGKB, 59Tocris Bioscience, 2BitterDB
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Compounds related to Pituitary Hypoplasia according to GeneCards/GeneDecks:

(show top 50)    (show all 54)
idCompoundScoreTop Affiliating Genes
1ptx14410.2POU1F1, POMC, PITX1
2flesinoxan4410.1PRL, POMC
3quinagolide4410.1PRL, GH1
4acth 1-244410.1PRL, POMC
5dopamine44 28 11 2413.0GHRH, BMP2, BMP4
6ipsapirone44 2811.0PRL, POMC
7forskolin44 49 1111.9GHRHR, POU1F1, POMC, GHRH
8fenfluramine28 44 1111.9POMC, GHRH, PRL
9pyridostigmine44 1110.9GH1, GHRH, PRL
10lanreotide44 2810.9PRL, GHRH, GH1
11bromocriptine28 44 1111.8GHRH, PRL, POMC, POU1F1
125-hydroxytryptophan449.8GH1, PRL
13dhea449.7POMC, PRL, GH1
14polyethylene glycol449.7BMP2, GHRH, PRL
1511 deoxycortisol449.7PRL, POMC
16alendronate44 49 1111.7BMP2, PTPRS, GH1
17naltrexone44 49 28 1112.6POMC, PRL, GH1, GHRH
18naloxone44 49 28 1112.6PRL, GHRH, GH1, POMC
19clonidine44 28 1111.6POMC, PRL, GH1, GHRH
20octreotide44 59 28 1112.6GHRH, POMC, GH1, PRL
21opiate449.6POMC, GHRH, GH1, PRL
22triiodothyronine449.6PRL, POMC, GHRH, GH1
2317-hydroxyprogesterone44 2410.5POMC, PBX1, PRL
24metoclopramide44 1110.5PBX1, GH1, PRL
25thyroxine44 2410.5GHRH, PRL, POMC, GH1
26vitamin d449.4POU1F1, GH1, GHRH, BMP2
27levodopa44 1110.4GH1, PRL, SOD1, GHRH
28corticosterone44 59 2411.4PRL, POMC, GH1
29ascorbic acid44 2410.4POMC, BMP4, BMP2, SOD1
30adenylate449.3GHRH, POMC, GH1, GHRHR, BMP4
31indomethacin44 59 28 1112.3POMC, BMP2, GH1, SOD1
32dehydroepiandrosterone sulfate449.2PBX1, GH1, POMC, PRL
33norepinephrine44 11 2411.2GHRH, PRL, POMC
34cysteine449.2BMP2, SOD1, LHX3, GHRHR, BMP4
35cycloheximide449.2BMP4, GHRH, GH1, BMP2, POMC
36androstenedione44 2410.2PBX1, PRL, GH1, POMC
37hydrocortisone44 2 59 1112.2PRL, GH1, PBX1, POMC
38ghrp449.1PRL, PBX1, GH1, GHRH, GHRHR
39alanine449.0SOX3, GH1, SOD1, POU1F1, BMP2, POMC
40estradiol44 11 2410.9PBX1, POMC, PRL, GH1, GHRH
41hexarelin44 289.8POMC, GHRHR, GHRH, GH1, PRL, PBX1
42ribonucleic acid448.7POMC, POU1F1, GHRH, PRL, GH1, GHRHR
43testosterone44 59 11 2411.4GH1, GHRH, BMP2, PRL, PROP1, POMC
44glucose448.4PRL, GH1, GHRH, BMP2, GHRHR, PBX1
45acth448.4GHRH, GH1, PRL, PROP1, POU1F1, POMC
46progesterone44 59 28 11 2412.2POU1F1, POMC, PRL, BMP2, BMP4, PBX1
47gnrh448.1LHX3, POMC, PBX1, HESX1, PITX1, GHRH
48dexamethasone44 49 28 1111.0GHRH, PBX1, GHRHR, POMC, POU1F1, BMP4
49steroid448.0PBX1, POMC, POU1F1, PROP1, PRL, GHRH
50arginine447.9BMP2, POU1F1, GHRHR, GHRH, GH1, SOD1

GO Terms for genes affiliated with Pituitary Hypoplasia

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16Gene Ontology
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Cellular components related to Pituitary Hypoplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1secretory granuleGO:0301419.5GHRHR, PRL, POMC
2transcription factor complexGO:0056679.2PBX1, PROP1, PITX1, LHX3
3extracellular spaceGO:0056158.2SOD1, BMP2, BMP4, GHRH, GH1, POMC
4extracellular regionGO:0055768.2BMP2, BMP4, GHRH, GH1, PRL, POMC

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

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1somatotropin secreting cell developmentGO:06013310.4GHRHR, POU1F1
2medial motor column neuron differentiationGO:02152610.3LHX4, LHX3
3positive regulation of growth hormone secretionGO:06012410.2GHRHR, GHRH
4growth hormone secretionGO:03025210.2GHRHR, GHRH
5mesenchymal cell proliferation involved in ureteric bud developmentGO:07213810.2BMP2, BMP4
6BMP signaling pathway involved in heart inductionGO:00313010.2BMP2, BMP4
7telencephalon regionalizationGO:02197810.2BMP4, BMP2
8determination of adult lifespanGO:00834010.2GHRHR, POU1F1
9regulation of odontogenesis of dentin-containing toothGO:04248710.1BMP2, BMP4
10positive regulation of ossificationGO:04577810.0BMP4, BMP2
11positive regulation of insulin-like growth factor receptor signaling pathwayGO:04356810.0GH1, GHRH, GHRHR
12positive regulation of cartilage developmentGO:06103610.0BMP4, BMP2
13cell fate specificationGO:00170810.0OTX2, POU1F1
14pituitary gland developmentGO:0219839.9PITX1, BMP4, SOX3, LHX3
15placenta developmentGO:0018909.9SOD1, LHX3, LHX4
16SMAD protein signal transductionGO:0603959.9BMP4, BMP2
17positive regulation of multicellular organism growthGO:0400189.8GHRHR, GHRH, GH1, POU1F1
18positive regulation of JAK-STAT cascadeGO:0464279.8PRL, GH1
19regulation of ossificationGO:0302789.7PBX1, PRL
20telencephalon developmentGO:0215379.6BMP4, BMP2
21positive regulation of transcription, DNA-dependentGO:0458939.5OTX2, POU1F1, BMP4, BMP2, LHX3
22branching involved in ureteric bud morphogenesisGO:0016589.5PBX1, BMP4, BMP2
23organ morphogenesisGO:0098879.3LHX4, LHX3, SOX3, BMP2, PBX1
24positive regulation of transcription from RNA polymerase II promoterGO:0459448.8LHX3, BMP2, BMP4, PITX1, PROP1, POU1F1

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

idNameGO IDScoreTop Affiliating Genes
1BMP receptor bindingGO:0707009.8BMP2, BMP4
2prolactin receptor bindingGO:0051489.8PRL, GH1
3hormone activityGO:0051799.4POMC, PRL, GH1
4RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positiveGO:0010779.2OTX2, PBX1, POU1F1
5sequence-specific DNA bindingGO:0435658.2ESX1, LHX4, LHX3, HESX1, PITX1, POU1F1
6sequence-specific DNA binding transcription factor activityGO:0037008.0LHX4, LHX3, HESX1, PITX1, PROP1, POU1F1

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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet