MCID: PTT001
MIFTS: 31

Pituitary Hypoplasia malady

Category: Endocrine diseases

Aliases & Classifications for Pituitary Hypoplasia

About this section

Aliases & Descriptions for Pituitary Hypoplasia:

Name: Pituitary Hypoplasia 11 13
 
Hypoplasia of the Pituitary Gland 68

Classifications:



External Ids:

Disease Ontology11 DOID:7378
NCIt45 C27343

Summaries for Pituitary Hypoplasia

About this section
MalaCards based summary: Pituitary Hypoplasia, also known as hypoplasia of the pituitary gland, is related to holoprosencephaly-9 and panhypopituitarism, x-linked, and has symptoms including pituitary enlargement An important gene associated with Pituitary Hypoplasia is SOX3 (SRY-Box 3), and among its related pathways is Glucocorticoid receptor regulatory network. Affiliated tissues include pituitary, liver and testes, and related mouse phenotypes are hearing/vestibular/ear and craniofacial.

Related Diseases for Pituitary Hypoplasia

About this section

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

(show all 34)
idRelated DiseaseScoreTop Affiliating Genes
1holoprosencephaly-910.8
2panhypopituitarism, x-linked10.8
3septo-optic dysplasia spectrum10.8
4pituitary adenoma, prolactin-secreting10.0GHRHR, PRL
5renal, genital, and middle ear anomalies9.8HESX1, OTX2
6hypopituitarism9.8
7hereditary koilonychia9.8GHRHR, POU1F1, SOX3
8hypothryoidism, congenital, nongoitrous 49.8POU1F1, PRL
9dwarfism9.7
10growth hormone deficiency9.7
11combined pituitary hormone deficiency9.7
12growth retardation hydrocephaly lung hypoplasia9.6GHRHR, HESX1, SOX3
13coffin-siris syndrome9.6
14rubinstein-taybi syndrome9.6
15glycogen storage disease9.6
16holoprosencephaly9.6
17imperforate anus9.6
18hydronephrosis9.6
19hydranencephaly9.6
20neuronitis9.6
21chiari malformation9.6
22slipped capital femoral epiphysis9.6
23pituitary tumors9.6
24renal dysplasia9.6
25pituitary stalk interruption syndrome9.6
26acute myeloid leukemia, kit-related9.6LHX3, PRL
27tricuspid valve agenesis9.1HESX1, LHX4, OTX2, POU1F1
28primary fanconi syndrome8.9HESX1, LHX3, LHX4, POU1F1
29aortic valve atresia8.6GHRHR, HESX1, LHX4, POU1F1, PRL, SOX3
30mental retardation, x-linked syndromic, christianson type8.5HESX1, LHX3, LHX4, POU1F1, SOX3
31fallopian tube clear cell adenocarcinoma8.3HESX1, LHX3, LHX4, POU1F1, PRL, SOX3
32diabetes insipidus8.2HESX1, LHX3, LHX4, POU1F1, PRL, SOX3
33molybdenum cofactor deficiency b8.2HESX1, LHX3, LHX4, POU1F1, PRL, SOX3
34squamous cell papilloma of skin7.8GHRHR, 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

About this section

UMLS symptoms related to Pituitary Hypoplasia:


pituitary enlargement

MGI Mouse Phenotypes related to Pituitary Hypoplasia according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.2HESX1, LHX3, OTX2, POU1F1
2MP:00053828.9HESX1, LHX3, OTX2, POU1F1, SOX3
3MP:00053788.2GHRHR, HESX1, LHX3, OTX2, POU1F1, SOX3
4MP:00053767.6GHRHR, LHX3, LHX4, OTX2, POU1F1, PRL
5MP:00053797.2GHRHR, HESX1, LHX3, LHX4, OTX2, POU1F1
6MP:00053897.2GHRHR, LHX3, OTX2, POU1F1, PRL, SOX3
7MP:00036317.1GHRHR, HESX1, LHX3, LHX4, OTX2, POU1F1

Drugs & Therapeutics for Pituitary Hypoplasia

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Hormone AntagonistsPhase 412778
2Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 412767
3HormonesPhase 413979
4
Ironapproved11237439-89-623925
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
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
Electrolytic iron
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feronate
Ferretts
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
Ferrum metallicum
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
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron powder
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, carbonyl
Iron, electrolytic
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
Iron, reduced
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Reduced iron
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Vitedyn-Slo
Yieronia
fer
ferrous iron
hierro
5Liver Extracts3868

Interventional clinical trials:

idNameStatusNCT IDPhase
1Endocrine Dysfunction and Growth Hormone Deficiency in Children With Optic Nerve HypoplasiaCompletedNCT00140413Phase 4
2Multi-Center Study of Iron Overload: Pilot StudyUnknown statusNCT01114776
3Growth Arrest in Focal Dermal HypoplasiaActive, not recruitingNCT02463656

Search NIH Clinical Center for Pituitary Hypoplasia

Genetic Tests for Pituitary Hypoplasia

About this section

Anatomical Context for Pituitary Hypoplasia

About this section

MalaCards organs/tissues related to Pituitary Hypoplasia:

36
Pituitary, Liver, Testes

Publications for Pituitary Hypoplasia

About this section

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
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
De novo terminal 22q12.3q13.3 duplication with pituitary hypoplasia. (19839043)
2009
9
Pituitary hypoplasia and growth hormone deficiency in a woman with glycogen storage disease type Ia: a case report. (18564411)
2008
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 Coffin-Siris syndrome. (18203175)
2008
13
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
14
Senescence mediates pituitary hypoplasia and restrains pituitary tumor growth. (17975001)
2007
15
Hypothalamic 3',5'-cyclic adenosine monophosphate response element-binding protein loss causes anterior pituitary hypoplasia and dwarfism in mice. (16141355)
2006
16
Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies. (16835935)
2006
17
Worster-Drought syndrome (congenital bilateral perisylvian syndrome) with posterior pituitary ectopia, pituitary hypoplasia, empty sella and panhypopituitarism: a patient report. (16759040)
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

About this section

Expression for genes affiliated with Pituitary Hypoplasia

About this section
Search GEO for disease gene expression data for Pituitary Hypoplasia.

Pathways for genes affiliated with Pituitary Hypoplasia

About this section

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

idSuper pathwaysScoreTop Affiliating Genes
19.5POU1F1, PRL

GO Terms for genes affiliated with Pituitary Hypoplasia

About this section

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1medial motor column neuron differentiationGO:002152610.1LHX3, LHX4
2motor neuron axon guidanceGO:000804510.0LHX3, LHX4
3adenohypophysis developmentGO:002198410.0GHRHR, POU1F1
4determination of adult lifespanGO:000834010.0GHRHR, POU1F1
5placenta developmentGO:00018909.9LHX3, LHX4
6lactationGO:00075959.9GHRHR, PRL
7pituitary gland developmentGO:00219839.7LHX3, POU1F1, SOX3
8positive regulation of multicellular organism growthGO:00400189.7GHRHR, POU1F1
9somatotropin secreting cell developmentGO:00601339.4GHRHR, POU1F1
10regulation of insulin-like growth factor receptor signaling pathwayGO:00435679.3GHRHR, POU1F1

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II transcription factor bindingGO:000108510.2LHX3, POU1F1
2sequence-specific DNA bindingGO:00435658.7HESX1, LHX3, LHX4, POU1F1

Sources for Pituitary Hypoplasia

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet