MCID: PTT001
MIFTS: 31

Pituitary Hypoplasia malady

Categories: Endocrine diseases

Aliases & Classifications for Pituitary Hypoplasia

Aliases & Descriptions for Pituitary Hypoplasia:

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

Classifications:



External Ids:

Disease Ontology 12 DOID:7378
NCIt 47 C27343
UMLS 69 C0948740

Summaries for Pituitary Hypoplasia

MalaCards based summary : Pituitary Hypoplasia, also known as hypoplasia of the pituitary gland, is related to holoprosencephaly-9 and septooptic dysplasia. An important gene associated with Pituitary Hypoplasia is HESX1 (HESX Homeobox 1), and among its related pathways/superpathways is Glucocorticoid receptor regulatory network. The drugs Hormone Antagonists and Hormones have been mentioned in the context of this disorder. 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 44)
id Related Disease Score Top Affiliating Genes
1 holoprosencephaly-9 10.8
2 septooptic dysplasia 10.8
3 panhypopituitarism, x-linked 10.8
4 septo-optic dysplasia spectrum 10.8
5 caudal regression syndrome 10.1 POU1F1 PRL
6 rheumatic encephalitis 10.1 POU1F1 PRL
7 mental retardation, x-linked syndromic, christianson type 10.1 POU1F1 SOX3
8 thrombophilia 10.1 GHRHR PRL
9 rolandic epilepsy, mental retardation, and speech dyspraxia 10.0 HESX1 SOX3
10 papillary craniopharyngioma 10.0 POU1F1 PRL
11 kindler syndrome 10.0 PRL SOX3
12 microvascular complications of diabetes 3 10.0 GHRHR HESX1 POU1F1
13 adamantinous craniopharyngioma 10.0 POU1F1 PRL
14 pagod syndrome 9.9 HESX1 OTX2
15 shaver's disease 9.9 HESX1 LHX3 POU1F1
16 hypopituitarism 9.8
17 gynandroblastoma 9.8 GHRHR HESX1 POU1F1 SOX3
18 adult i blood group with or without congenital cataract 9.8 HESX1 LHX3 POU1F1 PRL
19 idiopathic hypersomnia without long sleep time 9.7 HESX1 LHX3 LHX4 POU1F1
20 dwarfism 9.7
21 growth hormone deficiency 9.7
22 combined pituitary hormone deficiency 9.7
23 congenital amputation 9.6 HESX1 LHX4 OTX2 POU1F1
24 urethra clear cell adenocarcinoma 9.6 HESX1 LHX3 LHX4 POU1F1 PRL
25 coffin-siris syndrome 9.6
26 rubinstein-taybi syndrome 9.6
27 glycogen storage disease 9.6
28 holoprosencephaly 9.6
29 imperforate anus 9.6
30 hydronephrosis 9.6
31 hydranencephaly 9.6
32 neuronitis 9.6
33 chiari malformation 9.6
34 pituitary stalk interruption syndrome 9.6
35 slipped capital femoral epiphysis 9.6
36 pituitary tumors 9.6
37 renal dysplasia 9.6
38 aminoacylase 1 deficiency 9.5 HESX1 LHX3 LHX4 POU1F1 SOX3
39 plasmalogens synthesis deficiency isolated 9.5 GHRHR HESX1 LHX4 POU1F1 PRL SOX3
40 early-onset glaucoma 9.4 HESX1 LHX3 LHX4 OTX2 POU1F1
41 mucopolysaccharidosis type vi 9.4 HESX1 LHX3 LHX4 POU1F1 PRL SOX3
42 cervix squamous papilloma 9.4 HESX1 LHX3 LHX4 POU1F1 PRL SOX3
43 ossification of the posterior longitudinal ligament of spine 9.1 GHRHR HESX1 LHX3 LHX4 OTX2 POU1F1
44 l-cell glucagon-like peptide producing tumor 8.9 GHRHR HESX1 LHX3 LHX4 OTX2 POU1F1

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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.97 PRL SOX3 GHRHR HESX1 LHX3 LHX4
2 craniofacial MP:0005382 9.8 HESX1 LHX3 OTX2 POU1F1 SOX3
3 growth/size/body region MP:0005378 9.8 GHRHR HESX1 LHX3 OTX2 POU1F1 SOX3
4 homeostasis/metabolism MP:0005376 9.7 GHRHR LHX3 LHX4 OTX2 POU1F1 PRL
5 hearing/vestibular/ear MP:0005377 9.56 LHX3 OTX2 POU1F1 HESX1
6 nervous system MP:0003631 9.56 GHRHR HESX1 LHX3 LHX4 OTX2 POU1F1
7 reproductive system MP:0005389 9.1 GHRHR LHX3 OTX2 POU1F1 PRL SOX3

Drugs & Therapeutics for Pituitary Hypoplasia

Drugs for Pituitary Hypoplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormone Antagonists Phase 4
2 Hormones Phase 4
3 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
4
Iron Approved 7439-89-6 23925
5 Liver Extracts

Interventional clinical trials:


id Name Status NCT ID Phase
1 Endocrine Dysfunction and Growth Hormone Deficiency in Children With Optic Nerve Hypoplasia Completed NCT00140413 Phase 4
2 Multi-Center Study of Iron Overload: Pilot Study Unknown status NCT01114776
3 Growth Arrest in Focal Dermal Hypoplasia Active, not recruiting NCT02463656

Search NIH Clinical Center for Pituitary Hypoplasia

Genetic Tests for Pituitary Hypoplasia

Anatomical Context for Pituitary Hypoplasia

MalaCards organs/tissues related to Pituitary Hypoplasia:

39
Pituitary, Testes

Publications for Pituitary Hypoplasia

Articles related to Pituitary Hypoplasia:

(show all 34)
id Title Authors Year
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
Pituitary hypoplasia and growth hormone deficiency in Coffin-Siris syndrome. ( 18203175 )
2008
10
Pituitary hypoplasia and growth hormone deficiency in a woman with glycogen storage disease type Ia: a case report. ( 18564411 )
2008
11
Worster-drought syndrome with ectopic neurohypophysis and pituitary hypoplasia. A case report. ( 24256897 )
2008
12
Mechanisms underlying pituitary hypoplasia and failed cell specification in Lhx3-deficient mice. ( 18037398 )
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
Pituitary hypoplasia and respiratory distress syndrome in Prop1 knockout mice. ( 15459176 )
2004
20
Congenital bilateral perisylvian syndrome with pituitary hypoplasia and ectopic neurohypophysis. ( 15168097 )
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
Pituitary hypoplasia in patients with a mutation in the growth hormone-releasing hormone receptor gene. ( 10782778 )
2000
26
Combined pituitary hormone deficiency and pituitary hypoplasia due to a mutation of the Pit-1 gene. ( 10792348 )
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

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:

id Super pathways Score Top Affiliating Genes
1 10.54 POU1F1 PRL

GO Terms for Pituitary Hypoplasia

Cellular components related to Pituitary Hypoplasia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 secretory granule GO:0030141 8.62 GHRHR PRL

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 transcription, DNA-templated GO:0006351 9.91 HESX1 LHX3 LHX4 POU1F1 SOX3
2 regulation of transcription, DNA-templated GO:0006355 9.91 HESX1 LHX3 LHX4 OTX2 POU1F1 SOX3
3 positive regulation of cell proliferation GO:0008284 9.7 GHRHR POU1F1 PRL
4 lactation GO:0007595 9.49 GHRHR PRL
5 placenta development GO:0001890 9.48 LHX3 LHX4
6 positive regulation of multicellular organism growth GO:0040018 9.46 GHRHR POU1F1
7 motor neuron axon guidance GO:0008045 9.4 LHX3 LHX4
8 determination of adult lifespan GO:0008340 9.37 GHRHR POU1F1
9 adenohypophysis development GO:0021984 9.32 GHRHR POU1F1
10 regulation of insulin-like growth factor receptor signaling pathway GO:0043567 9.26 GHRHR POU1F1
11 somatotropin secreting cell development GO:0060133 9.16 GHRHR POU1F1
12 medial motor column neuron differentiation GO:0021526 8.96 LHX3 LHX4
13 pituitary gland development GO:0021983 8.92 HESX1 LHX3 POU1F1 SOX3

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

id 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 core promoter proximal region sequence-specific 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 core promoter proximal region 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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