MCID: PTT001
MIFTS: 33

Pituitary Hypoplasia malady

Category: Endocrine diseases

Aliases & Classifications for Pituitary Hypoplasia

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Aliases & Descriptions for Pituitary Hypoplasia:

Name: Pituitary Hypoplasia 10 12
 
Hypoplasia of the Pituitary Gland 65

Classifications:



External Ids:

Disease Ontology10 DOID:7378
NCIt42 C27343
UMLS65 C0948740

Summaries for Pituitary Hypoplasia

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MalaCards based summary: Pituitary Hypoplasia, also known as hypoplasia of the pituitary gland, is related to septooptic dysplasia and anophthalmos with limb anomalies, and has symptoms including pituitary enlargement An important gene associated with Pituitary Hypoplasia is HESX1 (HESX Homeobox 1). Affiliated tissues include pituitary, liver and lung, and related mouse phenotypes are hearing/vestibular/ear and craniofacial.

Related Diseases for Pituitary Hypoplasia

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

(show all 34)
idRelated DiseaseScoreTop Affiliating Genes
1septooptic dysplasia28.9HESX1, LHX3, POU1F1
2anophthalmos with limb anomalies10.0HESX1, OTX2
3hypopituitarism9.9
4holoprosencephaly-99.9
5panhypopituitarism, x-linked9.9
6dwarfism9.8
7growth hormone deficiency9.8
8worster drought syndrome9.8
9combined pituitary hormone deficiency9.8
10mesocardia9.7HESX1, LHX4, SOX3
11coffin-siris syndrome9.7
12rubinstein-taybi syndrome9.7
13glycogen storage disease9.7
14holoprosencephaly9.7
15imperforate anus9.7
16hydronephrosis9.7
17hydranencephaly9.7
18neuronitis9.7
19chiari malformation9.7
20slipped capital femoral epiphysis9.7
21pituitary tumors9.7
22renal dysplasia9.7
23pituitary stalk interruption syndrome9.7
24aortic valve atresia9.3HESX1, LHX4, OTX2, POU1F1
25eyelid disease9.2HESX1, LHX3, SOX3
26growth retardation alopecia pseudoanodontia optic9.2GHRHR, HESX1, SOX3
27acute myeloid leukemia, flt3-related9.2HESX1, LHX3, POU1F1
28inherited predisposition to essential thrombocythemia9.0HESX1, LHX3, LHX4, POU1F1
29complement component 8 deficiency8.9HESX1, LHX3, LHX4, POU1F1
30molybdenum cofactor deficiency b8.6HESX1, LHX3, LHX4, POU1F1, SOX3
31pituitary adenoma, growth hormone-secreting 28.5HESX1, LHX3, LHX4, POU1F1, SOX3
32strictly posterior acute myocardial infarction8.5HESX1, LHX3, LHX4, POU1F1, SOX3
33isolated levocardia8.3GHRHR, HESX1, LHX4, OTX2, POU1F1, SOX3
34female urethral cancer7.5GHRHR, HESX1, LHX3, LHX4, OTX2, POU1F1

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



Diseases related to pituitary hypoplasia

Symptoms for Pituitary Hypoplasia

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UMLS symptoms related to Pituitary Hypoplasia:


pituitary enlargement

Drugs & Therapeutics for Pituitary Hypoplasia

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1HormonesPhase 411748
2
Ironapproved10217439-89-623925
Synonyms:
02583_FLUKA
12310_ALDRICH
12310_RIEDEL
129048-51-7
14067-02-8
161135-39-3
190454-13-8
195161-83-2
199281-22-6
209309_ALDRICH
209309_SIAL
255637_ALDRICH
266213_ALDRICH
266256_ALDRICH
267945_ALDRICH
267953_ALDRICH
26Fe
338141_ALDRICH
356808_ALDRICH
356824_ALDRICH
356832_ALDRICH
39344-71-3
3ZhP
413054_ALDRICH
443783-52-6
44890_ALDRICH
44890_FLUKA
675141-17-0
70884-35-4
73135-38-3
7439-89-6
8011-79-8
8053-60-9
AC1L2N38
ATW 230
ATW 432
Ancor B
Ancor en 80/150
Armco iron
Atomel 28
Atomel 300M200
Atomel 500M
Atomel 95
Atomiron 44MR
Atomiron 5M
Atomiron AFP 25
Atomiron AFP 5
C00023
C3518_SIAL
C3518_SIGMA
CCRIS 1580
CHEBI:18248
CID23925
Carbonyl iron
Copy Powder CS 105-175
D007501
DB01592
DSP 1000
DSP 128B
DSP 135
DSP 135C
DSP 138
Dexiron
Diseases (animal), iron overload
Diseases, iron overload
EF 1000
EF 250
EFV 200/300
EFV 250
EFV 250/400
EINECS 231-096-4
Ed-In-Sol
 
Eisen
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feraheme
Feronate
Ferretts
Ferrlecit
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
GS 6
HF 2 (element)
HL (iron)
HQ (metal)
HS (iron)
HS 4849
HSDB 604
Hemocyte
Hierro
Hoeganaes ATW 230
Hoeganaes EH
IRMM524A_FLUKA
IRMM524B_FLUKA
IRON
Infufer
Iron
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Venofer
Vitedyn-Slo
Yieronia
fer
ferrous ascorbate
ferrous fumarate
ferrous gluconate
ferrous glycine sulfate
ferrous iron
ferrous succinate
ferrous sulfate
hierro
3Liver Extracts3572

Interventional clinical trials:

idNameStatusNCT IDPhase
1Endocrine Dysfunction and Growth Hormone Deficiency in Children With Optic Nerve HypoplasiaCompletedNCT00140413Phase 4
2Growth Arrest in Focal Dermal HypoplasiaActive, not recruitingNCT02463656
3Multi-Center Study of Iron Overload: Pilot StudyActive, not recruitingNCT01114776

Search NIH Clinical Center for Pituitary Hypoplasia

Genetic Tests for Pituitary Hypoplasia

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Anatomical Context for Pituitary Hypoplasia

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MalaCards organs/tissues related to Pituitary Hypoplasia:

33
Pituitary, Liver, Lung, Breast, Kidney, Heart, Myeloid

Animal Models for Pituitary Hypoplasia or affiliated genes

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MGI Mouse Phenotypes related to Pituitary Hypoplasia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.4HESX1, LHX3, OTX2, POU1F1
2MP:00053828.1HESX1, LHX3, OTX2, POU1F1, SOX3
3MP:00053897.9GHRHR, LHX3, OTX2, POU1F1, SOX3
4MP:00107687.5HESX1, LHX3, LHX4, OTX2, POU1F1, SOX3
5MP:00053767.2GHRHR, LHX3, LHX4, OTX2, POU1F1, SOX3
6MP:00053797.1GHRHR, HESX1, LHX3, LHX4, OTX2, POU1F1
7MP:00036316.9GHRHR, HESX1, LHX3, LHX4, OTX2, POU1F1
8MP:00053786.9GHRHR, HESX1, LHX3, OTX2, POU1F1, SOX3

Publications for Pituitary Hypoplasia

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Articles related to Pituitary Hypoplasia:

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

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Expression for genes affiliated with Pituitary Hypoplasia

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Search GEO for disease gene expression data for Pituitary Hypoplasia.

Pathways for genes affiliated with Pituitary Hypoplasia

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GO Terms for genes affiliated with Pituitary Hypoplasia

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1motor neuron axon guidanceGO:000804510.1LHX3, LHX4
2pituitary gland developmentGO:002198310.1LHX3, SOX3
3organ morphogenesisGO:00098879.9LHX3, LHX4
4somatotropin secreting cell developmentGO:00601339.8GHRHR, POU1F1
5determination of adult lifespanGO:00083409.6GHRHR, POU1F1
6positive regulation of multicellular organism growthGO:00400189.6GHRHR, POU1F1
7positive regulation of transcription, DNA-templatedGO:00458939.2LHX3, OTX2, POU1F1
8transcription, DNA-templatedGO:00063519.1LHX3, LHX4, SOX3
9positive regulation of transcription from RNA polymerase II promoterGO:00459448.5LHX3, OTX2, POU1F1

Sources for Pituitary Hypoplasia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet