MCID: HYP085
MIFTS: 40

Hypothalamic Disease

Categories: Endocrine diseases, Neuronal diseases

Aliases & Classifications for Hypothalamic Disease

MalaCards integrated aliases for Hypothalamic Disease:

Name: Hypothalamic Disease 12 15
Hypothalamic Diseases 43 71
Hypothalamic Dysfunction Syndromes 71
Hypothalamic Dysfunction 74
Hypothalamic Disorder 54

Classifications:



External Ids:

Disease Ontology 12 DOID:1931
MeSH 43 D007027
SNOMED-CT 67 399100005
ICD10 32 E23.3
UMLS 71 C0020655 C0751230

Summaries for Hypothalamic Disease

MalaCards based summary : Hypothalamic Disease, also known as hypothalamic diseases, is related to precocious puberty and gangliocytoma. An important gene associated with Hypothalamic Disease is PRL (Prolactin), and among its related pathways/superpathways are Signaling by GPCR and Peptide ligand-binding receptors. The drugs Clonidine and Hormones have been mentioned in the context of this disorder. Affiliated tissues include pituitary, brain and testes, and related phenotypes are homeostasis/metabolism and endocrine/exocrine gland

Wikipedia : 74 Hypopituitarism is the decreased (hypo) secretion of one or more of the eight hormones normally produced... more...

Related Diseases for Hypothalamic Disease

Diseases related to Hypothalamic Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 328)
# Related Disease Score Top Affiliating Genes
1 precocious puberty 30.3 GNRH1 GH1
2 gangliocytoma 29.8 PRL POMC GHRH CRH
3 pituitary tumors 29.7 PRL POMC GH1
4 mccune-albright syndrome 29.6 PRL LEP GH1
5 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 29.6 LEP INS
6 isolated growth hormone deficiency 29.5 POMC GHRH GH1
7 hypothalamic obesity 29.4 LEP INS GHRH
8 chromophobe adenoma 29.4 TRH PRL POMC GH1
9 sexual disorder 29.3 PRL POMC INS GNRH1
10 anxiety 29.2 PRL POMC INS CRH
11 craniopharyngioma 29.2 TRH PRL INS GNRH1 GH1
12 diabetes insipidus 29.1 PRL POMC INS GH1 CRH AVP
13 overnutrition 29.1 POMC LEP INS
14 hypogonadotropic hypogonadism 29.1 PRL LEP INS GNRH1
15 hypogonadism 28.9 PRL LEP INS GNRH1
16 hyperandrogenism 28.9 PRL POMC INS GNRH1 GH1
17 sleep disorder 28.9 PRL POMC LEP INS
18 anovulation 28.8 PRL LEP INS GNRH1 CRH
19 major depressive disorder 28.7 PRL POMC LEP CRH AVP
20 adenoma 28.7 TRH PRL POMC GHRH GH1 CRH
21 hypoglycemia 28.6 PRL POMC INS GHRH GH1 CRH
22 amenorrhea 28.6 TRH PRL POMC LEP INS GNRH1
23 polycystic ovary syndrome 28.6 PRL POMC LEP INS GNRH1 GH1
24 empty sella syndrome 28.5 TRH PRL POMC INS GNRH1 GH1
25 anorexia nervosa 28.4 PRL POMC LEP INS GHRH GH1
26 body mass index quantitative trait locus 11 28.2 TRH PRL POMC LEP INS GHRH
27 hyperprolactinemia 28.0 TRH PRL POMC INS GNRH1 GHRH
28 pituitary hormone deficiency, combined, 2 27.9 TSHB TRH PRL POMC GHRH GH1
29 prader-willi syndrome 27.8 TRH PRL POMC LEP INS GNRH1
30 pituitary adenoma 27.5 TSHB TRH PRL POMC GNRH1 GHRH
31 hypopituitarism 27.4 TRH PRL POMC LEP INS GNRH1
32 hypothyroidism 27.4 TSHB TRH PRL POMC LEP INS
33 pituitary gland disease 27.1 TSHB TRH PRL POMC INS GNRH1
34 acromegaly 27.1 TRH PRL POMC LEP INS GNRH1
35 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome 12.6
36 rohhad 12.2
37 fryns microphthalmia syndrome 11.6
38 shapiro syndrome 11.3
39 froelich syndrome 11.0
40 hypothalamic adipsic hypernatraemia syndrome 10.5
41 fibrous dysplasia/mccune-albright syndrome 10.4 PRL GH1
42 spinocerebellar degeneration 10.4 PRL CRH
43 generalized resistance to thyroid hormone 10.4 TRH PRL
44 polyp of corpus uteri 10.4 PRL GNRH1
45 pyometritis 10.4 PRL GNRH1
46 central precocious puberty 10.4 GNRH1 GH1
47 tetrahydrobiopterin deficiency 10.4 PRL GH1
48 tuberculum sellae meningioma 10.4 PRL POMC
49 sella turcica neoplasm 10.4 PRL POMC
50 salpingitis isthmica nodosa 10.4 PRL GNRH1

Graphical network of the top 20 diseases related to Hypothalamic Disease:



Diseases related to Hypothalamic Disease

Symptoms & Phenotypes for Hypothalamic Disease

MGI Mouse Phenotypes related to Hypothalamic Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.02 AVP CRH GHRH GNRH1 INS LEP
2 endocrine/exocrine gland MP:0005379 10.01 CRH GHRH GNRH1 INS LEP POMC
3 immune system MP:0005387 9.92 AVP CRH GHRH GNRH1 INS LEP
4 nervous system MP:0003631 9.81 AVP CRH GHRH GNRH1 INS LEP
5 liver/biliary system MP:0005370 9.8 CRH GHRH GNRH1 INS LEP POMC
6 renal/urinary system MP:0005367 9.5 AVP CRH GNRH1 INS LEP POMC
7 skeleton MP:0005390 9.17 AVP CRH GHRH GNRH1 INS LEP

Drugs & Therapeutics for Hypothalamic Disease

Drugs for Hypothalamic Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clonidine Approved Phase 3 4205-90-7 2803
2 Hormones Phase 3
3 Adrenergic alpha-Agonists Phase 3
4 Mitogens Phase 3
5 Antihypertensive Agents Phase 3
6 Sympatholytics Phase 3
7 Adrenergic Agents Phase 3
8 Neurotransmitter Agents Phase 3
9 Adrenergic Agonists Phase 3
10 Analgesics Phase 3
11
Arginine Investigational, Nutraceutical Phase 3 74-79-3 6322
12
Exenatide Approved, Investigational Phase 2 141758-74-9 15991534
13
Oxytocin Approved, Vet_approved Phase 1, Phase 2 50-56-6 53477758 439302
14
Testosterone enanthate Approved Phase 2 315-37-7 9416
15
Testosterone undecanoate Approved, Investigational Phase 2 5949-44-0
16
Testosterone Approved, Experimental, Investigational Phase 2 58-22-0, 481-30-1 10204 6013
17
Methyltestosterone Approved Phase 2 58-18-4 6010
18 Hormone Antagonists Phase 2
19 Hypoglycemic Agents Phase 2
20 Anti-Obesity Agents Phase 2
21 Incretins Phase 2
22 Testosterone 17 beta-cypionate Phase 2
23 Anabolic Agents Phase 2
24 Antineoplastic Agents, Hormonal Phase 2
25 Androgens Phase 2
26
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
27
Lenograstim Approved, Investigational 135968-09-1
28 Alkylating Agents
29 Immunosuppressive Agents
30 Immunologic Factors
31 Antirheumatic Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Growth Hormone Trial for Children With 18q- and Abnormal Growth Completed NCT00134420 Phase 3 Nutropin AQ
2 Effects of Exenatide on Body Weight in Patients With Hypothalamic Obesity Completed NCT01484873 Phase 2 Exenatide
3 Evaluation of Tolerance, Suckling and Food Intake After Repeated Nasals Administrations of Oxytocin in PWS Infants Completed NCT02205034 Phase 1, Phase 2 oxytocin
4 Tolerance of Intranasal Administration of OT in Prader-Willi Newborn Babies and Effect on Suck and Food Intake. Completed NCT01548521 Phase 1, Phase 2 Oxytocin
5 Will Testosterone and Growth Hormone Improve Bone Structure? Completed NCT00080483 Phase 2 Testosterone plus somatropin;testosterone
6 Incretin Effect and Gastrointestinally Mediated Glucose Disposal in Cranially Irradiated Patients With Acromegaly Unknown status NCT02005978
7 Effects of Transcranial Direct Current Stimulation (tDCS) on Obsessive Compulsive Behavior and Depressive Symptoms on Individuals With Prader-Willi Syndrome Unknown status NCT03324906
8 International Rapid-onset Obesity With Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) REDCap Registry Recruiting NCT03135730
9 Whole Transcriptome Profiling and Metabolic Phenotyping in Children With ROHHAD Syndrome Recruiting NCT02602769
10 High-dose Cyclophosphamide for the Treatment of ROHHAD (Rapid Onset Obesity, Hypoventilation, Hypothalamic Dysfunction, and Autonomic Dysregulation) Syndrome Active, not recruiting NCT02441491 Cyclophosphamide

Search NIH Clinical Center for Hypothalamic Disease

Cochrane evidence based reviews: hypothalamic diseases

Genetic Tests for Hypothalamic Disease

Anatomical Context for Hypothalamic Disease

MalaCards organs/tissues related to Hypothalamic Disease:

40
Pituitary, Brain, Testes, Bone, Thyroid, Hypothalamus, Cerebellum

Publications for Hypothalamic Disease

Articles related to Hypothalamic Disease:

(show top 50) (show all 101)
# Title Authors PMID Year
1
Growth hormone replacement inhibits renal and hepatic 11 beta-hydroxysteroid dehydrogenases in ACTH-deficient patients. 54 61
9828916 1998
2
Dynamics of prolactin secretion in patients with hypopituitarism and pituitary macroadenomas. 54 61
8530591 1995
3
An apparent cluster of congenital hypopituitarism in central Massachusetts: magnetic resonance imaging and hormonal studies. 54 61
1846002 1991
4
Sarcoidosis and the Nervous System. 61
32487903 2020
5
Is the Cerebellum Involved in the Nervous Control of the Immune System Function? 61
31729296 2020
6
Management of hypothalamic disease in patients with craniopharyngioma. 61
30614015 2019
7
A hotspots analysis-relation discovery representation model for revealing diabetes mellitus and obesity. 61
30547805 2018
8
Reference intervals for thyrotropin in an area of Northern Italy: the Pordenone thyroid study (TRIPP). 61
29340973 2018
9
Pediatric Adrenal Insufficiency: Diagnosis, Management, and New Therapies. 61
30515225 2018
10
Hypothermia in Multiple Sclerosis: Beyond the Hypothalamus? A Case Report and Review of the Literature. 61
29755800 2018
11
Generation and Characterization of Functional Human Hypothalamic Neurons. 61
29064566 2017
12
Diabetes insipidus and hypopituitarism in HIV: an unexpected cause. 61
28620498 2017
13
Central hypothyroidism and its role for cardiovascular risk factors in hypopituitary patients. 61
27481361 2016
14
[Addison's disease : Primary adrenal insufficiency]. 61
27129928 2016
15
Paraneoplastic limbic encephalitis with associated hypothalamitis mimicking a hyperdense hypothalamic tumor: a case report. 61
26782815 2016
16
Management of Craniopharyngioma - Perspectives beyond Surgery and Endocrinology. 61
29632577 2015
17
Oral manifestations of hypothyroidism: a case report. 61
24995258 2014
18
Psychotropic-induced hyperprolactinemia: a clinical review. 61
24140188 2014
19
Comparison of body composition, basal metabolic rate and metabolic outcomes of adults with Prader Willi syndrome or lesional hypothalamic disease, with primary obesity. 61
23318724 2013
20
GLP-1 analogues as a new treatment option for hypothalamic obesity in adults: report of nine cases. 61
23392214 2013
21
Hypothalamic germinoma masquerading as superior mesenteric artery (SMA) syndrome. 61
23186972 2013
22
Management of subclinical hyperthyroidism. 61
23843809 2012
23
Partial hypopituitarism and Langerhans cell histiocytosis. 61
22715201 2011
24
Androgens may mediate a relative preservation of IGF-I levels in overweight and obese women despite reduced growth hormone secretion. 61
18647804 2008
25
Growth hormone deficiency by growth hormone releasing hormone-arginine testing criteria predicts increased cardiovascular risk markers in normal young overweight and obese women. 61
18445664 2008
26
Hypopituitarism. 61
17077946 2006
27
Gene-transfer technology: a preventive neurotherapy to curb obesity, ameliorate metabolic syndrome and extend life expectancy. 61
16125798 2005
28
Neurocognitive function in adults with growth hormone deficiency. 61
16439853 2005
29
Is the thyrotropin-releasing hormone test necessary in the diagnosis of central hypothyroidism in children. 61
14671155 2003
30
Osteopenic mice: animal models of the aging skeleton. 61
15758436 2002
31
Diagnosis and management of growth hormone deficiency in adults. 61
11571930 2001
32
Serum thyroid-stimulating hormone measurement for assessment of thyroid function and disease. 61
11444162 2001
33
Basal, pulsatile, entropic, and 24-hour rhythmic features of secondary hyperprolactinemia due to functional pituitary stalk disconnection mimic tumoral (primary) hyperprolactinemia. 61
11297584 2001
34
Central control of bone formation. 61
11368306 2001
35
Pituitary-thyroid feedback hypersensitivity as a novel cause of hypothyroidism in children. 61
11072946 2000
36
Experience with cyproterone acetate in the treatment of precocious puberty. 61
10969925 2000
37
Kleine-Levin and Munchausen syndromes in a patient with recurrent acromegaly. 61
10069657 1999
38
Pulsatile GnRH or human chorionic gonadotropin/human menopausal gonadotropin as effective treatment for men with hypogonadotropic hypogonadism: a review of 42 cases. 54
9758439 1998
39
Clinical review 86: Euthyroid sick syndrome: is it a misnomer? 61
9024211 1997
40
Hypothalamic disease: neurosecretory dysfunction and parasellar lesions. 61
9174692 1997
41
Obese (ob) gene defects are rare in human obesity. 61
9061713 1997
42
Hyperprolactinemia. 61
29224529 1996
43
A comparison between short ACTH and insulin stress tests for assessing hypothalamo-pituitary-adrenal function. 61
8706316 1996
44
Endocrine abnormalities in hemodialysis patients with iron overload: reversal with iron depletion. 61
8748213 1995
45
[Disturbance of hypothalamic-pituitary hormone secretion in familial chorea-acanthocytosis]. 54
7669403 1995
46
High efficacy of gonadotropin or pulsatile gonadotropin-releasing hormone treatment in hypogonadotropic hypogonadal men. 54
7921222 1994
47
Pathogenesis of pituitary Cushing's syndrome. Pituitary versus hypothalamic. 54
7805653 1994
48
Chronic hypothermia and water intoxication associated with a neurodegenerative disease. 61
8121871 1993
49
Plasma levels of corticotropin-releasing hormone in hypothalamic-pituitary-adrenal disorders and chronic renal failure. 54
8393256 1993
50
Diencephalic idiopathic gliosis: an unusual hypothalamic syndrome of dermopathy, diarrhea and growth arrest. 61
1430843 1992

Variations for Hypothalamic Disease

Expression for Hypothalamic Disease

Search GEO for disease gene expression data for Hypothalamic Disease.

Pathways for Hypothalamic Disease

Pathways related to Hypothalamic Disease according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.86 TSHB TRH POMC LEP INS GNRH1
2
Show member pathways
12.94 TSHB TRH PRL POMC LEP GNRH1
3
Show member pathways
12.6 TSHB POMC INS CRH
4
Show member pathways
12.21 PRL LEP INS GH1
6
Show member pathways
11.91 TSHB POMC LEP INS GH1
7 11.79 LEP INS GH1
8 11.72 TSHB POMC GHRH CRH AVP
9 11.24 PRL LEP INS
10
Show member pathways
10.97 TRH POMC LEP
11 10.59 TSHB GNRH1
12 10.28 POMC CRH
13 10.23 PRL POMC LEP INS

GO Terms for Hypothalamic Disease

Cellular components related to Hypothalamic Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.65 TSHB PRL POMC LEP INS GNRH1
2 perikaryon GO:0043204 9.5 GNRH1 GHRH CRH
3 secretory granule GO:0030141 9.43 TRH POMC AVP
4 extracellular region GO:0005576 9.36 TSHB TRH PRL POMC LEP INS
5 endosome lumen GO:0031904 9.33 PRL INS GH1

Biological processes related to Hypothalamic Disease according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.81 TRH PRL POMC LEP INS GNRH1
2 positive regulation of cell proliferation GO:0008284 9.73 PRL LEP INS GHRH CRH AVP
3 glucose homeostasis GO:0042593 9.7 POMC LEP INS
4 response to ethanol GO:0045471 9.67 LEP GNRH1 CRH AVP
5 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.65 LEP INS GH1
6 response to nutrient levels GO:0031667 9.63 PRL LEP GH1
7 female pregnancy GO:0007565 9.62 PRL LEP GNRH1 CRH
8 positive regulation of JAK-STAT cascade GO:0046427 9.58 PRL LEP GH1
9 response to testosterone GO:0033574 9.56 GNRH1 AVP
10 G protein-coupled receptor signaling pathway GO:0007186 9.56 TSHB TRH POMC INS GNRH1 GHRH
11 eating behavior GO:0042755 9.55 TRH LEP
12 positive regulation of insulin receptor signaling pathway GO:0046628 9.54 LEP INS
13 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.51 PRL GH1
14 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.49 GHRH GH1
15 negative regulation of glucagon secretion GO:0070093 9.43 LEP CRH
16 cell-cell signaling GO:0007267 9.17 TSHB TRH POMC INS GNRH1 GHRH

Molecular functions related to Hypothalamic Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.62 POMC LEP CRH AVP
2 hormone activity GO:0005179 9.36 TSHB TRH PRL POMC LEP INS
3 peptide hormone receptor binding GO:0051428 9.26 LEP GHRH
4 prolactin receptor binding GO:0005148 9.16 PRL GH1
5 neuropeptide hormone activity GO:0005184 9.13 GHRH CRH AVP

Sources for Hypothalamic Disease

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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