MCID: PTT001
MIFTS: 29

Pituitary Hypoplasia

Categories: Endocrine diseases

Aliases & Classifications for Pituitary Hypoplasia

MalaCards integrated aliases for Pituitary Hypoplasia:

Name: Pituitary Hypoplasia 12 15
Hypoplasia of the Pituitary Gland 73

Classifications:



External Ids:

Disease Ontology 12 DOID:7378
NCIt 50 C27343
UMLS 73 C0948740

Summaries for Pituitary Hypoplasia

MalaCards based summary : Pituitary Hypoplasia, also known as hypoplasia of the pituitary gland, is related to isolated growth hormone deficiency, type ii 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. 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 42)
# Related Disease Score Top Affiliating Genes
1 isolated growth hormone deficiency, type ii 31.3 GHRHR HESX1 POU1F1
2 septooptic dysplasia 31.1 HESX1 LHX3 LHX4 POU1F1 SOX3
3 growth hormone deficiency 29.7 GHRHR HESX1 SOX3
4 hypopituitarism 28.9 HESX1 LHX3 LHX4 POU1F1 PRL SOX3
5 combined pituitary hormone deficiency 28.9 HESX1 LHX3 LHX4 OTX2 POU1F1
6 pituitary hormone deficiency, combined, 2 28.8 HESX1 LHX3 LHX4 POU1F1 PRL SOX3
7 pituitary stalk interruption syndrome 28.7 GHRHR HESX1 LHX4 POU1F1 PRL SOX3
8 panhypopituitarism, x-linked 11.0
9 frias syndrome 11.0
10 holoprosencephaly 9 11.0
11 septo-optic dysplasia spectrum 11.0
12 isolated growth hormone deficiency type iii 10.0 HESX1 SOX3
13 hypothyroidism, congenital, nongoitrous, 4 10.0 POU1F1 PRL
14 growth hormone secreting pituitary adenoma 10.0 GHRHR PRL
15 pituitary tumors 10.0 POU1F1 PRL
16 fryns microphthalmia syndrome 10.0 HESX1 OTX2
17 suprabulbar paresis, congenital 9.9
18 polymicrogyria, bilateral perisylvian, x-linked 9.9
19 dwarfism 9.9
20 craniopharyngioma 9.9 POU1F1 PRL
21 coffin-siris syndrome 1 9.8
22 ulnar-mammary syndrome 9.8
23 anus, imperforate 9.8
24 chromosome 16p13.3 deletion syndrome, proximal 9.8
25 diabetes mellitus 9.8
26 glycogen storage disease 9.8
27 holoprosencephaly 9.8
28 hypogonadotropic hypogonadism 9.8
29 hydronephrosis 9.8
30 hypogonadism 9.8
31 hydranencephaly 9.8
32 hypogonadotropism 9.8
33 chiari malformation 9.8
34 slipped capital femoral epiphysis 9.8
35 renal dysplasia 9.8
36 isolated growth hormone deficiency 9.7 GHRHR HESX1 POU1F1 SOX3
37 combined pituitary hormone deficiencies, genetic forms 9.6 HESX1 LHX4 OTX2 POU1F1
38 hypothyroidism 9.6 HESX1 LHX3 POU1F1 PRL
39 pituitary gland disease 9.6 HESX1 LHX3 POU1F1 PRL
40 hypothyroidism due to deficient transcription factors involved in pituitary development or function 9.5 HESX1 LHX3 LHX4 POU1F1
41 pituitary hormone deficiency, combined, 1 9.5 HESX1 LHX3 LHX4 POU1F1
42 borjeson-forssman-lehmann syndrome 9.4 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.97 GHRHR HESX1 LHX3 LHX4 OTX2 POU1F1
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 HESX1 LHX3 OTX2 POU1F1
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

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:

41
Pituitary, Testes

Publications for Pituitary Hypoplasia

Articles related to Pituitary Hypoplasia:

(show all 37)
# Title Authors Year
1
Hypogonadotropic hypogonadism and pituitary hypoplasia as recurrent features in Ulnar-Mammary syndrome. ( 30550377 )
2018
2
Familial ROBO1 deletion associated with ectopic posterior pituitary, duplication of the pituitary stalk and anterior pituitary hypoplasia. ( 30530901 )
2018
3
Pituitary Hypoplasia. ( 28476222 )
2017
4
Lhx4 deficiency: increased cyclin-dependent kinase inhibitor expression and pituitary hypoplasia. ( 25668206 )
2015
5
A rare case of type 1 diabetes mellitus with pituitary hypoplasia. ( 25220923 )
2014
6
Pituitary stalk interruption syndrome and isolated pituitary hypoplasia may be caused by mutations in holoprosencephaly-related genes. ( 23476075 )
2013
7
Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia. ( 23432975 )
2013
8
Hydranencephaly, pituitary hypoplasia, and anophthalmia in a male infant. ( 22610272 )
2012
9
A novel frame shift mutation in the GHRH receptor gene in familial isolated GH deficiency: early occurrence of anterior pituitary hypoplasia. ( 21816782 )
2011
10
De novo terminal 22q12.3q13.3 duplication with pituitary hypoplasia. ( 19839043 )
2009
11
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
12
Mechanisms underlying pituitary hypoplasia and failed cell specification in Lhx3-deficient mice. ( 18037398 )
2008
13
Pituitary hypoplasia and growth hormone deficiency in a woman with glycogen storage disease type Ia: a case report. ( 18564411 )
2008
14
Worster-drought syndrome with ectopic neurohypophysis and pituitary hypoplasia. A case report. ( 24256897 )
2008
15
Pituitary hypoplasia and growth hormone deficiency in Coffin-Siris syndrome. ( 18203175 )
2008
16
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
17
Senescence mediates pituitary hypoplasia and restrains pituitary tumor growth. ( 17975001 )
2007
18
Hypothalamic 3',5'-cyclic adenosine monophosphate response element-binding protein loss causes anterior pituitary hypoplasia and dwarfism in mice. ( 16141355 )
2006
19
Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies. ( 16835935 )
2006
20
Worster-Drought syndrome (congenital bilateral perisylvian syndrome) with posterior pituitary ectopia, pituitary hypoplasia, empty sella and panhypopituitarism: a patient report. ( 16759040 )
2006
21
Pituitary hypoplasia in Pttg-/- mice is protective for Rb+/- pituitary tumorigenesis. ( 15919720 )
2005
22
Congenital bilateral perisylvian syndrome with pituitary hypoplasia and ectopic neurohypophysis. ( 15168097 )
2004
23
Pituitary hypoplasia and respiratory distress syndrome in Prop1 knockout mice. ( 15459176 )
2004
24
Agenesis of the internal carotid artery and congenital pituitary hypoplasia: proposal of a cause of congenital hypopituitarism. ( 12856176 )
2003
25
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
26
Pituitary hypoplasia and lactotroph dysfunction in mice deficient for cyclin-dependent kinase-4. ( 12130566 )
2002
27
Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia. ( 11136712 )
2001
28
Pituitary hypoplasia in patients with a mutation in the growth hormone-releasing hormone receptor gene. ( 10782778 )
2000
29
Combined pituitary hormone deficiency and pituitary hypoplasia due to a mutation of the Pit-1 gene. ( 10792348 )
2000
30
Neuronal defects and posterior pituitary hypoplasia in mice lacking the receptor tyrosine phosphatase PTPsigma. ( 10080192 )
1999
31
Severe congenital hypopituitarism with low prolactin levels and age-dependent anterior pituitary hypoplasia: a clue to a PIT-1 mutation. ( 9627600 )
1998
32
Del(14)(q22.1q23.2) in a patient with anophthalmia and pituitary hypoplasia. ( 9605291 )
1998
33
Anterior pituitary hypoplasia and dwarfism in mice lacking the dopamine transporter. ( 9247269 )
1997
34
Association of ectopic posterior pituitary and anterior pituitary hypoplasia with absence of the left internal carotid. ( 8961130 )
1996
35
Pituitary hypoplasia associated with a single central maxillary incisor. ( 8961131 )
1996
36
Imperforate anus, bilateral hydronephrosis, bilateral undescended testes and pituitary hypoplasia: a variant of Hall-Pallister syndrome or a new syndrome. ( 8580638 )
1995
37
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

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

# 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 15)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.84 LHX3 LHX4 OTX2 POU1F1
2 regulation of transcription, DNA-templated GO:0006355 9.8 HESX1 LHX3 LHX4 OTX2 POU1F1 SOX3
3 transcription by RNA polymerase II GO:0006366 9.76 LHX3 LHX4 OTX2 POU1F1
4 positive regulation of cell proliferation GO:0008284 9.72 GHRHR POU1F1 PRL
5 lactation GO:0007595 9.52 GHRHR PRL
6 placenta development GO:0001890 9.51 LHX3 LHX4
7 positive regulation of multicellular organism growth GO:0040018 9.49 GHRHR POU1F1
8 mammary gland development GO:0030879 9.48 GHRHR PRL
9 motor neuron axon guidance GO:0008045 9.43 LHX3 LHX4
10 determination of adult lifespan GO:0008340 9.4 GHRHR POU1F1
11 adenohypophysis development GO:0021984 9.37 GHRHR POU1F1
12 regulation of insulin-like growth factor receptor signaling pathway GO:0043567 9.26 GHRHR POU1F1
13 medial motor column neuron differentiation GO:0021526 9.16 LHX3 LHX4
14 somatotropin secreting cell development GO:0060133 8.96 GHRHR POU1F1
15 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 9.73 HESX1 LHX3 LHX4 OTX2 POU1F1 SOX3
2 proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001077 9.5 LHX3 OTX2 POU1F1
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.46 HESX1 LHX3 OTX2 POU1F1
4 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.43 HESX1 LHX3 LHX4 OTX2 POU1F1 SOX3
5 RNA polymerase II transcription factor binding GO:0001085 9.37 LHX3 POU1F1
6 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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