MCID: PTT001
MIFTS: 34

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 71

Classifications:



External Ids:

Disease Ontology 12 DOID:7378
NCIt 49 C27343
UMLS 71 C0948740

Summaries for Pituitary Hypoplasia

MalaCards based summary : Pituitary Hypoplasia, also known as hypoplasia of the pituitary gland, is related to congenital hypopituitarism and isolated growth hormone deficiency, type ii. An important gene associated with Pituitary Hypoplasia is SOX3 (SRY-Box Transcription Factor 3), and among its related pathways/superpathways are Ectoderm Differentiation and Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers. Affiliated tissues include pituitary, brain 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 top 50) (show all 108)
# Related Disease Score Top Affiliating Genes
1 congenital hypopituitarism 32.8 LHX4 HESX1
2 isolated growth hormone deficiency, type ii 31.6 POU1F1 HESX1 GHRHR GH1
3 fryns microphthalmia syndrome 30.5 OTX2 HESX1
4 isolated growth hormone deficiency 30.2 SOX3 POU1F1 OTX2 MIR548AA1 LHX4 LHX3
5 growth hormone deficiency 30.1 SOX3 HESX1 GHRHR GH1
6 septooptic dysplasia 30.0 TGIF1 SOX3 SHH PRL POU1F1 OTX2
7 cryptorchidism, unilateral or bilateral 29.7 SOX3 PRL LHX4 HESX1
8 pituitary hormone deficiency, combined, 1 29.6 POU1F1 LHX4 LHX3 HESX1
9 hypothyroidism 28.9 SOX3 PRL POU1F1 LHX4 LHX3 HESX1
10 pituitary hormone deficiency, combined, 2 28.5 SOX3 PRL POU1F1 OTX2 LHX4 LHX3
11 hypopituitarism 28.1 SOX3 SHH PRL POU1F1 OTX2 LHX4
12 holoprosencephaly 27.8 TGIF1 SOX3 SHH POU1F1 OTX2 LHX4
13 pituitary stalk interruption syndrome 27.1 TGIF1 SOX3 SHH ROBO1 PRL POU1F1
14 panhypopituitarism, x-linked 11.1
15 frias syndrome 11.1
16 holoprosencephaly 9 11.1
17 complex chromosomal rearrangement 10.3 SOX3 OTX2
18 tooth size 10.3 SHH BMP4
19 fibrous dysplasia/mccune-albright syndrome 10.3 PRL GH1
20 adenohypophysitis 10.3 PRL GH1
21 chromophobe adenoma 10.3 PRL GH1
22 gigantism 10.2 PRL GH1
23 tsh producing pituitary tumor 10.2 PRL GH1
24 melanotic medulloblastoma 10.2 SHH OTX2
25 hypothyroidism, central, with testicular enlargement 10.2 PRL POU1F1 LHX3
26 axenfeld-rieger syndrome 10.2 POU1F1 HESX1 BMP4
27 pituitary-dependent cushing's disease 10.2 PRL GH1
28 medullomyoblastoma 10.2 SHH OTX2
29 hypothalamic disease 10.2 PRL GH1
30 nodular medulloblastoma 10.2 SHH OTX2
31 tetrahydrobiopterin deficiency 10.2 PRL GH1
32 acth deficiency, isolated 10.2 PRL LHX4 LHX3
33 midline interhemispheric variant of holoprosencephaly 10.2 TGIF1 SHH
34 septopreoptic holoprosencephaly 10.1 TGIF1 SHH
35 bladder exstrophy-epispadias-cloacal exstrophy complex 10.1 SHH BMP4
36 dwarfism 10.1
37 adamantinous craniopharyngioma 10.1 SHH POU1F1 HESX1
38 hypothyroidism, congenital, nongoitrous, 4 10.1 PRL POU1F1 GH1
39 craniopharyngioma 10.1 PRL POU1F1 GH1
40 alobar holoprosencephaly 10.1 TGIF1 SHH
41 lobar holoprosencephaly 10.1 TGIF1 SHH
42 synovial chondromatosis 10.1 BMP4 BMP2
43 holoprosencephaly 4 10.1 TGIF1 SHH
44 brachydactyly, type a1, b 10.1 BMP4 BMP2
45 pituitary apoplexy 10.1 PRL GH1
46 empty sella syndrome 10.0 PRL LHX3 GH1
47 culler-jones syndrome 10.0 TGIF1 SHH
48 congenital hypothyroidism 10.0 PRL POU1F1 GH1
49 microform holoprosencephaly 10.0 TGIF1 SHH
50 pseudobulbar palsy 10.0

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:

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.26 BMP4 GHRHR HESX1 LHX3 LHX4 OTX2
2 craniofacial MP:0005382 10.24 BMP2 BMP4 HESX1 LHX3 OTX2 POU1F1
3 growth/size/body region MP:0005378 10.23 BMP2 BMP4 GHRHR HESX1 LHX3 OTX2
4 homeostasis/metabolism MP:0005376 10.22 BMP2 BMP4 GHRHR LHX3 LHX4 OTX2
5 cellular MP:0005384 10.21 BMP2 BMP4 LHX3 OTX2 POU1F1 PTPRS
6 nervous system MP:0003631 10.17 BMP2 BMP4 GHRHR HESX1 LHX3 LHX4
7 mortality/aging MP:0010768 10.15 BMP2 BMP4 HESX1 LHX3 LHX4 OTX2
8 hearing/vestibular/ear MP:0005377 10.03 BMP2 BMP4 HESX1 LHX3 OTX2 POU1F1
9 reproductive system MP:0005389 10.03 BMP2 BMP4 GHRHR LHX3 OTX2 POU1F1
10 respiratory system MP:0005388 9.76 BMP4 HESX1 LHX4 OTX2 PTPRS ROBO1
11 skeleton MP:0005390 9.65 BMP2 BMP4 GHRHR OTX2 POU1F1 PTPRS
12 taste/olfaction MP:0005394 9.02 HESX1 OTX2 PTPRS SHH TGIF1

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:

40
Pituitary, Brain, Testes, Eye, Hypothalamus, Bone, Kidney

Publications for Pituitary Hypoplasia

Articles related to Pituitary Hypoplasia:

(show top 50) (show all 226)
# Title Authors PMID Year
1
A Novel Missense Mutation in Human Receptor Roundabout-1 (ROBO1) Gene Associated with Pituitary Stalk Interruption Syndrome 61
31448886 2020
2
Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism. 61
32060556 2020
3
Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency. 61
32462814 2020
4
MITOL dysfunction causes dwarfism with anterior pituitary hypoplasia. 61
32302394 2020
5
Congenital pituitary hypoplasia model demonstrates hypothalamic OTX2 regulation of pituitary progenitor cells. 61
31845906 2020
6
Pathological and Incidental Findings in 403 Taiwanese Girls With Central Precocious Puberty at Initial Diagnosis. 61
32431668 2020
7
Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A>C(C.1957-2A>C) Mutation in GLI2 Gene 61
31782289 2019
8
Isolated Growth Hormone Deficiency Type 2 due to a novel GH1 Mutation: A Case Report 61
30678423 2019
9
Loss of function BMP4 mutation supports the implication of the BMP/TGF-β pathway in the etiology of combined pituitary hormone deficiency. 61
31120642 2019
10
[Clinical and genetic characteristics of a young child with combined pituitary hormone deficiency type I caused by POU1F1 gene variation]. 61
31315769 2019
11
Combined Pituitary Hormone Deficiency Caused by a Synonymous HESX1 Gene Mutation. 61
30888394 2019
12
The spectrum of pediatric adrenal insufficiency: insights from 34 years of experience. 61
31194685 2019
13
Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood. 61
30327448 2019
14
A homozygous splice site ROBO1 mutation in a patient with a novel syndrome with combined pituitary hormone deficiency. 61
30692597 2019
15
Familial ROBO1 deletion associated with ectopic posterior pituitary, duplication of the pituitary stalk and anterior pituitary hypoplasia. 61
30530901 2019
16
Slipped capital femoral epiphysis in an adult with congenital hypopituitarism: A case report. 61
30653105 2019
17
Relevance of Pituitary Gland Magnetic Resonance Imaging Results with Clinical and Laboratory Findings in Growth Hormone Deficiency. 61
30594946 2018
18
Hypogonadotropic hypogonadism and pituitary hypoplasia as recurrent features in Ulnar-Mammary syndrome. 61
30550377 2018
19
Brain MR Imaging Findings in Woodhouse-Sakati Syndrome. 61
30409855 2018
20
Mutations in the U11/U12-65K protein associated with isolated growth hormone deficiency lead to structural destabilization and impaired binding of U12 snRNA. 61
29255062 2018
21
Hypothalamic abnormalities: Growth failure due to defects of the GHRH receptor. 61
29277338 2018
22
A case of Kallmann syndrome associated with a non-functional pituitary microadenoma. 61
29692900 2018
23
Growth hormone deficiency as a cause for short stature in Wiedemann-Steiner Syndrome. 61
30159147 2018
24
MECHANISMS IN ENDOCRINOLOGY: The multiple facets of GHRH/GH/IGF-I axis: lessons from lifetime, untreated, isolated GH deficiency due to a GHRH receptor gene mutation. 61
28428227 2017
25
Pulsatile GnRH Therapy May Restore Hypothalamus-Pituitary-Testis Axis Function in Patients With Congenital Combined Pituitary Hormone Deficiency: A Prospective, Self-Controlled Trial. 61
28368486 2017
26
Pituitary Hypoplasia. 61
28476222 2017
27
Pituitary imaging in 129 children with growth hormone deficiency: A spectrum of findings. 61
29213168 2017
28
PITUITARY STALK INTERRUPTION SYNDROME: REPORT OF TWO CASES AND LITERATURE REVIEW. 61
31149155 2017
29
Correlation between morphological MRI findings and specific diagnostic categories in fetal alcohol spectrum disorders. 61
27620364 2017
30
Pituitary volume in children with growth hormone deficiency, idiopathic short stature and controls. 61
27710916 2016
31
HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype. 61
27000987 2016
32
Increased Intraocular Pressure in a Patient With Septooptic Dysplasia: A Case Report. 61
27136085 2016
33
ZBTB20 is required for anterior pituitary development and lactotrope specification. 61
27079169 2016
34
Septooptic Dysplasia with an Associated Arachnoid Cyst. 61
27891281 2016
35
Etiological and clinical characteristics of central diabetes insipidus in children: a single center experience. 61
26870137 2016
36
Long-Term Outcomes, Genetics, and Pituitary Morphology in Patients with Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiencies: A Single-Centre Experience of Four Decades of Growth Hormone Replacement. 61
27487097 2016
37
The protein activator of protein kinase R, PACT/RAX, negatively regulates protein kinase R during mouse anterior pituitary development. 61
26414443 2015
38
Pituitary gland size is a useful marker in diagnosing isolated growth hormone deficiency in short children. 61
25252748 2015
39
Auxological outcome of growth hormone therapy at cessation of treatment in a cohort of growth hormone deficient Sri Lankan patients. 61
26132182 2015
40
Lhx4 deficiency: increased cyclin-dependent kinase inhibitor expression and pituitary hypoplasia. 61
25668206 2015
41
A case of functional growth hormone deficiency and early growth retardation in a child with IFT172 mutations. 61
25664603 2015
42
The usefulness of the GHRH stimulation test in the diagnostics of growth hormone deficiency in children. 61
25931044 2015
43
Effect of growth hormone deficiency on brain MRI findings among children with growth restrictions. 61
25153566 2015
44
Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome. 61
25322266 2015
45
Brain Magnetic Resonance Imaging as First-Line Investigation for Growth Hormone Deficiency Diagnosis in Early Childhood. 61
26393500 2015
46
Pituitary stalk interruption syndrome presenting as short stature: a case report. 61
25524465 2014
47
Familial isolated growth hormone deficiency due to a novel homozygous missense mutation in the growth hormone releasing hormone receptor gene: clinical presentation with hypoglycemia. 61
25226297 2014
48
A SOX3 (Xq26.3-27.3) duplication in a boy with growth hormone deficiency, ocular dyspraxia, and intellectual disability: a long-term follow-up and literature review. 61
25402377 2014
49
A rare case of type 1 diabetes mellitus with pituitary hypoplasia. 61
25220923 2014
50
Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency. 61
24480542 2014

Variations for Pituitary Hypoplasia

Expression for Pituitary Hypoplasia

Search GEO for disease gene expression data for Pituitary Hypoplasia.

Pathways for Pituitary Hypoplasia

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 nuclear chromatin GO:0000790 9.17 TGIF1 SOX3 POU1F1 OTX2 LHX4 LHX3
2 endosome lumen GO:0031904 8.96 PRL GH1

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

(show all 47)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 10.13 SOX3 ROBO1 POU1F1 LHX3 BMP4 BMP2
2 positive regulation of cell proliferation GO:0008284 10.04 SHH PRL POU1F1 GHRHR BMP4
3 positive regulation of transcription, DNA-templated GO:0045893 9.99 SHH POU1F1 OTX2 LHX3 BMP4 BMP2
4 multicellular organism development GO:0007275 9.92 TGIF1 SOX3 SHH ROBO1 OTX2 HESX1
5 negative regulation of transcription by RNA polymerase II GO:0000122 9.91 TGIF1 SOX3 SHH POU1F1 HESX1 BMP4
6 negative regulation of gene expression GO:0010629 9.88 TGIF1 SHH ROBO1 BMP4 BMP2
7 animal organ morphogenesis GO:0009887 9.87 LHX4 LHX3 BMP2
8 positive regulation of transcription by RNA polymerase II GO:0045944 9.86 SOX3 SHH POU1F1 OTX2 LHX4 LHX3
9 lung development GO:0030324 9.83 SHH LHX3 BMP4
10 regulation of transcription, DNA-templated GO:0006355 9.81 TGIF1 SOX3 SHH POU1F1 OTX2 LHX4
11 cellular response to growth factor stimulus GO:0071363 9.8 TGIF1 BMP4 BMP2
12 forebrain development GO:0030900 9.8 SHH OTX2 BMP4
13 cell fate commitment GO:0045165 9.79 SHH BMP4 BMP2
14 odontogenesis of dentin-containing tooth GO:0042475 9.77 SHH BMP4 BMP2
15 inner ear development GO:0048839 9.77 SHH LHX3 BMP2
16 positive regulation of cell differentiation GO:0045597 9.75 SHH BMP4 BMP2
17 branching involved in ureteric bud morphogenesis GO:0001658 9.72 SHH BMP4 BMP2
18 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.71 PRL BMP4 BMP2
19 cardiac muscle cell differentiation GO:0055007 9.7 BMP4 BMP2
20 dopaminergic neuron differentiation GO:0071542 9.7 SHH OTX2
21 lung morphogenesis GO:0060425 9.69 SHH BMP4
22 embryonic morphogenesis GO:0048598 9.69 SHH BMP4
23 anatomical structure formation involved in morphogenesis GO:0048646 9.69 SHH BMP4
24 determination of adult lifespan GO:0008340 9.68 POU1F1 GHRHR
25 positive regulation of cartilage development GO:0061036 9.68 BMP4 BMP2
26 epithelial tube branching involved in lung morphogenesis GO:0060441 9.68 SHH BMP4
27 positive regulation of ossification GO:0045778 9.68 BMP4 BMP2
28 pulmonary valve morphogenesis GO:0003184 9.67 ROBO1 BMP4
29 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.67 PRL GH1
30 smooth muscle tissue development GO:0048745 9.67 SHH BMP4
31 positive regulation of multicellular organism growth GO:0040018 9.67 POU1F1 GHRHR GH1
32 dorsal/ventral neural tube patterning GO:0021904 9.66 SHH BMP4
33 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.66 GHRHR GH1
34 metanephric collecting duct development GO:0072205 9.65 SHH BMP4
35 regulation of insulin-like growth factor receptor signaling pathway GO:0043567 9.64 POU1F1 GHRHR
36 adenohypophysis development GO:0021984 9.63 POU1F1 GHRHR
37 regulation of odontogenesis of dentin-containing tooth GO:0042487 9.61 BMP4 BMP2
38 lymphoid progenitor cell differentiation GO:0002320 9.61 SHH BMP4
39 branching involved in prostate gland morphogenesis GO:0060442 9.58 SHH BMP4
40 epithelial-mesenchymal cell signaling GO:0060684 9.57 SHH BMP4
41 trachea development GO:0060438 9.56 SHH BMP4
42 mesenchymal cell proliferation involved in ureteric bud development GO:0072138 9.52 BMP4 BMP2
43 somatotropin secreting cell development GO:0060133 9.46 POU1F1 GHRHR
44 medial motor column neuron differentiation GO:0021526 9.43 LHX4 LHX3
45 BMP signaling pathway involved in heart induction GO:0003130 9.4 BMP4 BMP2
46 telencephalon regionalization GO:0021978 9.13 SHH BMP4 BMP2
47 pituitary gland development GO:0021983 9.02 SOX3 POU1F1 LHX3 HESX1 BMP4

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

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.77 POU1F1 OTX2 LHX4 LHX3 HESX1
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.72 TGIF1 POU1F1 OTX2 LHX3 HESX1
3 BMP receptor binding GO:0070700 9.26 BMP4 BMP2
4 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.17 TGIF1 SOX3 POU1F1 OTX2 LHX4 LHX3
5 co-receptor binding GO:0039706 9.16 BMP4 BMP2
6 prolactin receptor binding GO:0005148 8.96 PRL GH1

Sources for Pituitary Hypoplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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