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 70

Classifications:



External Ids:

Disease Ontology 12 DOID:7378
NCIt 50 C27343
UMLS 70 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 HESX1 (HESX Homeobox 1), and among its related pathways/superpathways are Ectoderm Differentiation and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include pituitary, hypothalamus and eye, 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 107)
# Related Disease Score Top Affiliating Genes
1 congenital hypopituitarism 32.0 LHX4 HESX1
2 isolated growth hormone deficiency, type ii 31.3 POU1F1 HESX1 GHRHR GH1
3 fryns microphthalmia syndrome 30.5 OTX2 HESX1
4 septooptic dysplasia 30.3 SOX3 SHH PRL POU1F1 OTX2 LHX4
5 growth hormone deficiency 30.1 SOX3 HESX1 GHRHR GH1
6 isolated growth hormone deficiency 30.1 SOX3 POU1F1 OTX2 MIR548AA1 LHX4 LHX3
7 pituitary hormone deficiency, combined, 1 29.7 POU1F1 LHX4 LHX3 HESX1
8 pituitary stalk interruption syndrome 29.7 ROBO1 LHX4 HESX1
9 cryptorchidism, unilateral or bilateral 29.4 SOX3 SHH PRL LHX4 HESX1
10 hypothyroidism 29.4 PRL POU1F1 LHX4 LHX3 HESX1 GH1
11 pituitary hormone deficiency, combined, 2 29.1 SOX3 PRL POU1F1 OTX2 LHX4 LHX3
12 hypopituitarism 28.8 SOX3 SHH PRL POU1F1 OTX2 LHX4
13 holoprosencephaly 28.4 TGIF1 SOX3 SHH POU1F1 OTX2 LHX4
14 panhypopituitarism, x-linked 10.9
15 frias syndrome 10.9
16 holoprosencephaly 9 10.9
17 hypothyroidism, central, with testicular enlargement 10.3 PRL POU1F1
18 complex chromosomal rearrangement 10.3 SOX3 OTX2
19 fibrous dysplasia/mccune-albright syndrome 10.2 PRL GH1
20 sheehan syndrome 10.2 PRL LHX4 HESX1
21 adenohypophysitis 10.2 PRL GH1
22 medullomyoblastoma 10.2 SHH OTX2
23 tooth size 10.2 SHH BMP4
24 chromophobe adenoma 10.2 PRL GH1
25 nodular medulloblastoma 10.2 SHH OTX2
26 gigantism 10.2 PRL GH1
27 axenfeld-rieger syndrome 10.2 POU1F1 HESX1 BMP4
28 pituitary-dependent cushing's disease 10.2 PRL GH1
29 hypothalamic disease 10.2 PRL GH1
30 partial third-nerve palsy 10.2 PRL GH1
31 midline interhemispheric variant of holoprosencephaly 10.1 TGIF1 SHH
32 septopreoptic holoprosencephaly 10.1 TGIF1 SHH
33 adamantinous craniopharyngioma 10.1 SHH POU1F1 HESX1
34 dwarfism 10.1
35 hypothyroidism, congenital, nongoitrous, 4 10.1 PRL POU1F1 GH1
36 bladder exstrophy-epispadias-cloacal exstrophy complex 10.1 SHH BMP4
37 craniopharyngioma 10.1 PRL POU1F1 GH1
38 holoprosencephaly 4 10.1 TGIF1 SHH
39 combined pituitary hormone deficiencies, genetic forms 10.1 POU1F1 OTX2 LHX4 HESX1
40 alobar holoprosencephaly 10.1 TGIF1 SHH
41 lobar holoprosencephaly 10.1 TGIF1 SHH
42 pituitary apoplexy 10.1 PRL GH1
43 microphthalmia, syndromic 3 10.1 SOX3 SHH OTX2
44 hyperpituitarism 10.1 PRL GH1
45 culler-jones syndrome 10.1 TGIF1 SHH
46 tsh producing pituitary tumor 10.1 PRL GHRHR GH1
47 hypothyroidism due to deficient transcription factors involved in pituitary development or function 10.1 POU1F1 LHX4 LHX3 HESX1
48 brachydactyly, type a1, b 10.0 BMP4 BMP2
49 van maldergem syndrome 1 10.0 PRL GH1
50 synovial chondromatosis 10.0 BMP4 BMP2

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 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.27 BMP4 GHRHR HESX1 LHX3 LHX4 OTX2
2 craniofacial MP:0005382 10.26 BMP2 BMP4 HESX1 LHX3 OTX2 POU1F1
3 growth/size/body region MP:0005378 10.26 BMP2 BMP4 GHRHR HESX1 LHX3 OTX2
4 homeostasis/metabolism MP:0005376 10.25 BMP2 BMP4 GHRHR LHX3 LHX4 OTX2
5 cellular MP:0005384 10.24 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 embryo MP:0005380 10.11 BMP2 BMP4 HESX1 OTX2 PTPRS SHH
9 hearing/vestibular/ear MP:0005377 10.11 BMP2 BMP4 GHRHR HESX1 LHX3 OTX2
10 reproductive system MP:0005389 10.03 BMP2 BMP4 GHRHR LHX3 OTX2 POU1F1
11 limbs/digits/tail MP:0005371 9.88 BMP2 BMP4 GHRHR ROBO1 SHH TGIF1
12 respiratory system MP:0005388 9.76 BMP4 HESX1 LHX4 OTX2 PTPRS ROBO1
13 skeleton MP:0005390 9.65 BMP2 BMP4 GHRHR OTX2 POU1F1 PTPRS
14 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, Hypothalamus, Eye, Testis, Testes, Tongue

Publications for Pituitary Hypoplasia

Articles related to Pituitary Hypoplasia:

(show top 50) (show all 232)
# Title Authors PMID Year
1
Brain MRIs may be of low value in most children diagnosed with isolated growth hormone deficiency. 61
33618442 2021
2
Human pituitary development and application of iPSCs for pituitary disease. 61
33206204 2021
3
POU1F1 mutations in combined pituitary hormone deficiency: differing spectrum of mutations in a Western-Indian cohort and systematic analysis of world literature. 61
33742319 2021
4
Genetic spectrum and predictors of mutations in four known genes in Asian Indian patients with growth hormone deficiency and orthotopic posterior pituitary: an emphasis on regional genetic diversity. 61
32894409 2020
5
Requirement of FAT and DCHS protocadherins during hypothalamic-pituitary development. 61
33108146 2020
6
MITOL dysfunction causes dwarfism with anterior pituitary hypoplasia. 61
32302394 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 the GLI2 Gene 61
31782289 2020
8
Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency. 61
32462814 2020
9
Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism. 61
32060556 2020
10
A Novel Missense Mutation in Human Receptor Roundabout-1 (ROBO1) Gene Associated with Pituitary Stalk Interruption Syndrome 61
31448886 2020
11
Congenital pituitary hypoplasia model demonstrates hypothalamic OTX2 regulation of pituitary progenitor cells. 61
31845906 2020
12
Pituitary stalk interruption syndrome is characterized by genetic heterogeneity. 61
33270637 2020
13
Pathological and Incidental Findings in 403 Taiwanese Girls With Central Precocious Puberty at Initial Diagnosis. 61
32431668 2020
14
Isolated Growth Hormone Deficiency Type 2 due to a novel GH1 Mutation: A Case Report 61
30678423 2019
15
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
16
[Clinical and genetic characteristics of a young child with combined pituitary hormone deficiency type I caused by POU1F1 gene variation]. 61
31315769 2019
17
Combined Pituitary Hormone Deficiency Caused by a Synonymous HESX1 Gene Mutation. 61
30888394 2019
18
The spectrum of pediatric adrenal insufficiency: insights from 34 years of experience. 61
31194685 2019
19
Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood. 61
30327448 2019
20
A homozygous splice site ROBO1 mutation in a patient with a novel syndrome with combined pituitary hormone deficiency. 61
30692597 2019
21
Familial ROBO1 deletion associated with ectopic posterior pituitary, duplication of the pituitary stalk and anterior pituitary hypoplasia. 61
30530901 2019
22
Slipped capital femoral epiphysis in an adult with congenital hypopituitarism: A case report. 61
30653105 2019
23
Brain MR Imaging Findings in Woodhouse-Sakati Syndrome. 61
30409855 2018
24
Hypogonadotropic hypogonadism and pituitary hypoplasia as recurrent features in Ulnar-Mammary syndrome. 61
30550377 2018
25
Relevance of Pituitary Gland Magnetic Resonance Imaging Results with Clinical and Laboratory Findings in Growth Hormone Deficiency. 61
30594946 2018
26
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
27
Hypothalamic abnormalities: Growth failure due to defects of the GHRH receptor. 61
29277338 2018
28
A case of Kallmann syndrome associated with a non-functional pituitary microadenoma. 61
29692900 2018
29
Growth hormone deficiency as a cause for short stature in Wiedemann-Steiner Syndrome. 61
30159147 2018
30
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
31
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
32
Pituitary Hypoplasia. 61
28476222 2017
33
Pituitary imaging in 129 children with growth hormone deficiency: A spectrum of findings. 61
29213168 2017
34
PITUITARY STALK INTERRUPTION SYNDROME: REPORT OF TWO CASES AND LITERATURE REVIEW. 61
31149155 2017
35
Correlation between morphological MRI findings and specific diagnostic categories in fetal alcohol spectrum disorders. 61
27620364 2017
36
Pituitary volume in children with growth hormone deficiency, idiopathic short stature and controls. 61
27710916 2016
37
HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype. 61
27000987 2016
38
Increased Intraocular Pressure in a Patient With Septooptic Dysplasia: A Case Report. 61
27136085 2016
39
ZBTB20 is required for anterior pituitary development and lactotrope specification. 61
27079169 2016
40
Septooptic Dysplasia with an Associated Arachnoid Cyst. 61
27891281 2016
41
Etiological and clinical characteristics of central diabetes insipidus in children: a single center experience. 61
26870137 2016
42
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
43
The protein activator of protein kinase R, PACT/RAX, negatively regulates protein kinase R during mouse anterior pituitary development. 61
26414443 2015
44
Pituitary gland size is a useful marker in diagnosing isolated growth hormone deficiency in short children. 61
25252748 2015
45
Auxological outcome of growth hormone therapy at cessation of treatment in a cohort of growth hormone deficient Sri Lankan patients. 61
26132182 2015
46
Lhx4 deficiency: increased cyclin-dependent kinase inhibitor expression and pituitary hypoplasia. 61
25668206 2015
47
A case of functional growth hormone deficiency and early growth retardation in a child with IFT172 mutations. 61
25664603 2015
48
The usefulness of the GHRH stimulation test in the diagnostics of growth hormone deficiency in children. 61
25931044 2015
49
Brain Magnetic Resonance Imaging as First-Line Investigation for Growth Hormone Deficiency Diagnosis in Early Childhood. 61
26393500 2015
50
Effect of growth hormone deficiency on brain MRI findings among children with growth restrictions. 61
25153566 2015

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 chromatin GO:0000785 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 45)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10.08 SOX3 SHH ROBO1 OTX2 HESX1 BMP4
2 positive regulation of transcription, DNA-templated GO:0045893 10.04 SHH POU1F1 OTX2 LHX3 BMP4 BMP2
3 positive regulation of transcription by RNA polymerase II GO:0045944 9.92 SOX3 SHH POU1F1 OTX2 LHX4 LHX3
4 negative regulation of transcription by RNA polymerase II GO:0000122 9.91 TGIF1 SOX3 SHH POU1F1 HESX1 BMP4
5 negative regulation of gene expression GO:0010629 9.85 TGIF1 SHH ROBO1 BMP4 BMP2
6 lung development GO:0030324 9.83 SHH LHX3 BMP4
7 cell fate commitment GO:0045165 9.81 SHH BMP4 BMP2
8 cellular response to growth factor stimulus GO:0071363 9.81 TGIF1 BMP4 BMP2
9 regulation of transcription, DNA-templated GO:0006355 9.81 TGIF1 SOX3 SHH POU1F1 OTX2 LHX4
10 camera-type eye development GO:0043010 9.79 SHH HESX1 BMP4
11 odontogenesis of dentin-containing tooth GO:0042475 9.77 SHH BMP4 BMP2
12 inner ear development GO:0048839 9.76 SHH LHX3 BMP2
13 positive regulation of cell differentiation GO:0045597 9.75 SHH BMP4 BMP2
14 dopaminergic neuron differentiation GO:0071542 9.7 SHH OTX2
15 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.7 PRL BMP4 BMP2
16 thyroid gland development GO:0030878 9.69 SHH HESX1
17 lung morphogenesis GO:0060425 9.69 SHH BMP4
18 cardiac muscle cell differentiation GO:0055007 9.69 BMP4 BMP2
19 branching involved in ureteric bud morphogenesis GO:0001658 9.69 SHH BMP4 BMP2
20 embryonic morphogenesis GO:0048598 9.68 SHH BMP4
21 epithelial tube branching involved in lung morphogenesis GO:0060441 9.68 SHH BMP4
22 anatomical structure formation involved in morphogenesis GO:0048646 9.68 SHH BMP4
23 positive regulation of cartilage development GO:0061036 9.68 BMP4 BMP2
24 positive regulation of ossification GO:0045778 9.67 BMP4 BMP2
25 pulmonary valve morphogenesis GO:0003184 9.67 ROBO1 BMP4
26 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.67 PRL GH1
27 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.66 GHRHR GH1
28 dorsal/ventral neural tube patterning GO:0021904 9.65 SHH BMP4
29 smooth muscle tissue development GO:0048745 9.65 SHH BMP4
30 metanephric collecting duct development GO:0072205 9.65 SHH BMP4
31 adenohypophysis development GO:0021984 9.64 POU1F1 GHRHR
32 endocardial cushion formation GO:0003272 9.63 ROBO1 BMP2
33 lymphoid progenitor cell differentiation GO:0002320 9.62 SHH BMP4
34 BMP signaling pathway involved in heart development GO:0061312 9.61 BMP4 BMP2
35 branching involved in prostate gland morphogenesis GO:0060442 9.61 SHH BMP4
36 regulation of odontogenesis of dentin-containing tooth GO:0042487 9.6 BMP4 BMP2
37 epithelial-mesenchymal cell signaling GO:0060684 9.56 SHH BMP4
38 forebrain development GO:0030900 9.56 SHH OTX2 HESX1 BMP4
39 trachea development GO:0060438 9.55 SHH BMP4
40 mesenchymal cell proliferation involved in ureteric bud development GO:0072138 9.49 BMP4 BMP2
41 BMP signaling pathway involved in heart induction GO:0003130 9.48 BMP4 BMP2
42 cardiac jelly development GO:1905072 9.43 BMP4 BMP2
43 medial motor column neuron differentiation GO:0021526 9.4 LHX4 LHX3
44 telencephalon regionalization GO:0021978 9.13 SHH BMP4 BMP2
45 pituitary gland development GO:0021983 8.92 SOX3 LHX3 HESX1 BMP4

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.85 TGIF1 SOX3 POU1F1 OTX2 LHX3 HESX1
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.7 TGIF1 SOX3 POU1F1 OTX2 LHX4 LHX3
3 BMP receptor binding GO:0070700 9.32 BMP4 BMP2
4 co-receptor binding GO:0039706 9.26 BMP4 BMP2
5 sequence-specific double-stranded DNA binding GO:1990837 9.1 TGIF1 SOX3 POU1F1 OTX2 LHX4 HESX1
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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....