MCID: PTT001
MIFTS: 29

Pituitary Hypoplasia

Categories: Endocrine diseases

Aliases & Classifications for Pituitary Hypoplasia

MalaCards integrated aliases for Pituitary Hypoplasia:

Name: Pituitary Hypoplasia 12 14
Hypoplasia of the Pituitary Gland 69

Classifications:



External Ids:

Disease Ontology 12 DOID:7378
NCIt 46 C27343
UMLS 69 C0948740

Summaries for Pituitary Hypoplasia

MalaCards based summary : Pituitary Hypoplasia, also known as hypoplasia of the pituitary gland, is related to septooptic dysplasia and pituitary tumors. An important gene associated with Pituitary Hypoplasia is HESX1 (HESX Homeobox 1), and among its related pathways/superpathways is Glucocorticoid receptor regulatory network. Affiliated tissues include pituitary and testes, and related phenotypes are endocrine/exocrine gland and craniofacial

Related Diseases for Pituitary Hypoplasia

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

(show all 40)
# Related Disease Score Top Affiliating Genes
1 septooptic dysplasia 30.0 HESX1 LHX3 LHX4 POU1F1 SOX3
2 pituitary tumors 29.5 POU1F1 PRL
3 growth hormone deficiency 29.3 GHRHR HESX1 SOX3
4 combined pituitary hormone deficiency 27.7 HESX1 LHX3 LHX4 OTX2 POU1F1
5 pituitary hormone deficiency, combined, 2 27.7 HESX1 LHX3 LHX4 POU1F1 PRL SOX3
6 pituitary stalk interruption syndrome 27.7 GHRHR HESX1 LHX4 POU1F1 PRL SOX3
7 hypopituitarism 27.6 HESX1 LHX3 LHX4 POU1F1 PRL SOX3
8 panhypopituitarism, x-linked 10.8
9 holoprosencephaly 9 10.8
10 septo-optic dysplasia spectrum 10.8
11 hypothyroidism, congenital, nongoitrous, 4 10.1 POU1F1 PRL
12 isolated growth hormone deficiency, type iii 10.1 HESX1 SOX3
13 growth hormone secreting pituitary adenoma 10.0 GHRHR PRL
14 central nervous system organ benign neoplasm 10.0 HESX1 PRL
15 fryns microphthalmia syndrome 10.0 HESX1 OTX2
16 craniopharyngioma 9.9 POU1F1 PRL
17 polymicrogyria, bilateral perisylvian, x-linked 9.8
18 dwarfism 9.8
19 pituitary adenoma 9.8 POU1F1 PRL
20 isolated growth hormone deficiency, type ii 9.8 GHRHR HESX1 POU1F1
21 coffin-siris syndrome 1 9.6
22 anus, imperforate 9.6
23 popliteal pterygium syndrome, lethal type 9.6
24 aging 9.6
25 chromosome 16p13.3 deletion syndrome, proximal 9.6
26 diabetes mellitus 9.6
27 glycogen storage disease 9.6
28 holoprosencephaly 9.6
29 hydronephrosis 9.6
30 hydranencephaly 9.6
31 neuronitis 9.6
32 chiari malformation 9.6
33 slipped capital femoral epiphysis 9.6
34 epiphysiolysis of the hip 9.6
35 renal dysplasia 9.6
36 combined pituitary hormone deficiencies, genetic forms 9.3 HESX1 LHX4 OTX2 POU1F1
37 pituitary gland disease 9.2 HESX1 LHX3 POU1F1 PRL
38 hypothyroidism due to deficient transcription factors involved in pituitary development or function 9.1 HESX1 LHX3 LHX4 POU1F1
39 borjeson-forssman-lehmann syndrome 8.8 HESX1 LHX3 LHX4 POU1F1 SOX3
40 isolated growth hormone deficiency 8.5 GHRHR HESX1 LHX3 LHX4 POU1F1 SOX3

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



Diseases related to Pituitary Hypoplasia

Symptoms & Phenotypes for Pituitary Hypoplasia

MGI Mouse Phenotypes related to Pituitary Hypoplasia:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.97 POU1F1 GHRHR HESX1 PRL SOX3 LHX3
2 craniofacial MP:0005382 9.8 POU1F1 HESX1 SOX3 LHX3 OTX2
3 growth/size/body region MP:0005378 9.8 OTX2 GHRHR POU1F1 HESX1 SOX3 LHX3
4 homeostasis/metabolism MP:0005376 9.7 POU1F1 GHRHR PRL SOX3 LHX3 LHX4
5 hearing/vestibular/ear MP:0005377 9.56 OTX2 POU1F1 HESX1 LHX3
6 nervous system MP:0003631 9.56 POU1F1 GHRHR HESX1 PRL SOX3 LHX3
7 reproductive system MP:0005389 9.1 POU1F1 GHRHR PRL SOX3 LHX3 OTX2

Drugs & Therapeutics for Pituitary Hypoplasia

Search Clinical Trials , NIH Clinical Center for Pituitary Hypoplasia

Genetic Tests for Pituitary Hypoplasia

Anatomical Context for Pituitary Hypoplasia

MalaCards organs/tissues related to Pituitary Hypoplasia:

38
Pituitary, Testes

Publications for Pituitary Hypoplasia

Articles related to Pituitary Hypoplasia:

(show all 35)
# Title Authors Year
1
Pituitary Hypoplasia. ( 28476222 )
2017
2
Lhx4 deficiency: increased cyclin-dependent kinase inhibitor expression and pituitary hypoplasia. ( 25668206 )
2015
3
A rare case of type 1 diabetes mellitus with pituitary hypoplasia. ( 25220923 )
2014
4
Pituitary stalk interruption syndrome and isolated pituitary hypoplasia may be caused by mutations in holoprosencephaly-related genes. ( 23476075 )
2013
5
Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia. ( 23432975 )
2013
6
Hydranencephaly, pituitary hypoplasia, and anophthalmia in a male infant. ( 22610272 )
2012
7
A novel frame shift mutation in the GHRH receptor gene in familial isolated GH deficiency: early occurrence of anterior pituitary hypoplasia. ( 21816782 )
2011
8
De novo terminal 22q12.3q13.3 duplication with pituitary hypoplasia. ( 19839043 )
2009
9
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
10
Worster-drought syndrome with ectopic neurohypophysis and pituitary hypoplasia. A case report. ( 24256897 )
2008
11
Mechanisms underlying pituitary hypoplasia and failed cell specification in Lhx3-deficient mice. ( 18037398 )
2008
12
Pituitary hypoplasia and growth hormone deficiency in a woman with glycogen storage disease type Ia: a case report. ( 18564411 )
2008
13
Pituitary hypoplasia and growth hormone deficiency in Coffin-Siris syndrome. ( 18203175 )
2008
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
Senescence mediates pituitary hypoplasia and restrains pituitary tumor growth. ( 17975001 )
2007
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
Hypothalamic 3',5'-cyclic adenosine monophosphate response element-binding protein loss causes anterior pituitary hypoplasia and dwarfism in mice. ( 16141355 )
2006
19
Pituitary hypoplasia in Pttg-/- mice is protective for Rb+/- pituitary tumorigenesis. ( 15919720 )
2005
20
Congenital bilateral perisylvian syndrome with pituitary hypoplasia and ectopic neurohypophysis. ( 15168097 )
2004
21
Pituitary hypoplasia and respiratory distress syndrome in Prop1 knockout mice. ( 15459176 )
2004
22
Agenesis of the internal carotid artery and congenital pituitary hypoplasia: proposal of a cause of congenital hypopituitarism. ( 12856176 )
2003
23
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
24
Pituitary hypoplasia and lactotroph dysfunction in mice deficient for cyclin-dependent kinase-4. ( 12130566 )
2002
25
Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia. ( 11136712 )
2001
26
Combined pituitary hormone deficiency and pituitary hypoplasia due to a mutation of the Pit-1 gene. ( 10792348 )
2000
27
Pituitary hypoplasia in patients with a mutation in the growth hormone-releasing hormone receptor gene. ( 10782778 )
2000
28
Neuronal defects and posterior pituitary hypoplasia in mice lacking the receptor tyrosine phosphatase PTPsigma. ( 10080192 )
1999
29
Severe congenital hypopituitarism with low prolactin levels and age-dependent anterior pituitary hypoplasia: a clue to a PIT-1 mutation. ( 9627600 )
1998
30
Del(14)(q22.1q23.2) in a patient with anophthalmia and pituitary hypoplasia. ( 9605291 )
1998
31
Anterior pituitary hypoplasia and dwarfism in mice lacking the dopamine transporter. ( 9247269 )
1997
32
Association of ectopic posterior pituitary and anterior pituitary hypoplasia with absence of the left internal carotid. ( 8961130 )
1996
33
Pituitary hypoplasia associated with a single central maxillary incisor. ( 8961131 )
1996
34
Imperforate anus, bilateral hydronephrosis, bilateral undescended testes and pituitary hypoplasia: a variant of Hall-Pallister syndrome or a new syndrome. ( 8580638 )
1995
35
Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia. ( 1509263 )
1992

Variations for Pituitary Hypoplasia

Expression for Pituitary Hypoplasia

Search GEO for disease gene expression data for Pituitary Hypoplasia.

Pathways for Pituitary Hypoplasia

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

# Super pathways Score Top Affiliating Genes
1 10.54 POU1F1 PRL

GO Terms for Pituitary Hypoplasia

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 transcription, DNA-templated GO:0006351 9.93 HESX1 LHX3 LHX4 POU1F1 SOX3
2 regulation of transcription, DNA-templated GO:0006355 9.93 HESX1 LHX3 LHX4 OTX2 POU1F1 SOX3
3 positive regulation of transcription by RNA polymerase II GO:0045944 9.83 LHX3 LHX4 OTX2 POU1F1
4 transcription by RNA polymerase II GO:0006366 9.73 LHX3 LHX4 OTX2 POU1F1
5 lactation GO:0007595 9.51 GHRHR PRL
6 placenta development GO:0001890 9.49 LHX3 LHX4
7 positive regulation of multicellular organism growth GO:0040018 9.48 GHRHR POU1F1
8 motor neuron axon guidance GO:0008045 9.4 LHX3 LHX4
9 determination of adult lifespan GO:0008340 9.37 GHRHR POU1F1
10 adenohypophysis development GO:0021984 9.32 GHRHR POU1F1
11 regulation of insulin-like growth factor receptor signaling pathway GO:0043567 9.26 GHRHR POU1F1
12 somatotropin secreting cell development GO:0060133 9.16 GHRHR POU1F1
13 medial motor column neuron differentiation GO:0021526 8.96 LHX3 LHX4
14 pituitary gland development GO:0021983 8.92 HESX1 LHX3 POU1F1 SOX3

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.63 HESX1 LHX3 LHX4 OTX2 POU1F1 SOX3
2 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding GO:0001077 9.43 LHX3 OTX2 POU1F1
3 RNA polymerase II transcription factor binding GO:0001085 9.32 LHX3 POU1F1
4 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.26 HESX1 LHX3 OTX2 POU1F1
5 sequence-specific DNA binding GO:0043565 9.02 HESX1 LHX3 LHX4 OTX2 POU1F1

Sources for Pituitary Hypoplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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