MCID: HYP085
MIFTS: 40

Hypothalamic Disease

Categories: Endocrine diseases, Neuronal diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Hypothalamic Disease

MalaCards integrated aliases for Hypothalamic Disease:

Name: Hypothalamic Disease 11 14 75
Hypothalamic Diseases 43 71
Hypothalamic Dysfunction Syndromes 71
Hypothalamic Dysfunction 75
Hypothalamic Disorder 53

Classifications:



External Ids:

Disease Ontology 11 DOID:1931
MeSH 43 D007027
SNOMED-CT 68 88108008
ICD10 31 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 diabetes insipidus, neurohypophyseal. An important gene associated with Hypothalamic Disease is PRL (Prolactin), and among its related pathways/superpathways are TGF-Beta Pathway and GPCR downstream signalling. The drugs Exenatide and Oxytocin have been mentioned in the context of this disorder. Affiliated tissues include hypothalamus, pituitary and testes, and related phenotypes are nervous system and homeostasis/metabolism

Wikipedia: 75 Hypothalamic disease is a disorder presenting primarily in the hypothalamus, which may be caused by... 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 387)
# Related Disease Score Top Affiliating Genes
1 precocious puberty 30.5 GNRH1 GH1
2 diabetes insipidus, neurohypophyseal 30.3 POMC AVP
3 premature ovarian failure 7 30.1 POMC GH1 CRH
4 hypothyroidism, congenital, nongoitrous, 1 30.0 TSHB GHRH
5 diabetes insipidus 29.7 PRL POMC INS GH1 CRH AVP
6 neurotic disorder 29.7 POMC INS CRH
7 galactorrhea 29.7 PRL IGF1
8 inappropriate adh syndrome 29.5 PRL POMC CRH AVP
9 pituitary tumors 29.4 PRL IGF1 GH1
10 hypogonadism 29.3 PRL POMC INS IGF1 GNRH1 GH1
11 panic disorder 29.3 TRH PRL POMC GHRH CRH
12 sleep apnea 29.2 INS IGF1 HCRT
13 prediabetes syndrome 29.2 INS IGF1 GH1
14 central diabetes insipidus 29.2 TRH PRL POMC IGF1 GNRH1 GH1
15 overnutrition 29.1 POMC INS IGF1
16 hypogonadotropic hypogonadism 29.1 PRL POMC INS IGF1 GNRH1
17 pituitary-dependent cushing's disease 29.1 TRH PRL POMC GHRH GH1 CRH
18 apnea, obstructive sleep 29.0 POMC INS IGF1 HCRT
19 amenorrhea 28.9 TRH PRL POMC INS IGF1 GNRH1
20 mccune-albright syndrome 28.9 PRL POMC IGF1 GHRH GH1
21 anovulation 28.9 PRL INS IGF1 GNRH1 CRH
22 craniopharyngioma 28.9 TRH PRL INS IGF1 GNRH1 GH1
23 polycystic ovary syndrome 28.8 PRL POMC INS IGF1 GNRH1 GH1
24 ovarian disease 28.8 PRL POMC INS IGF1 GNRH1
25 insulin-like growth factor i 28.8 PRL INS IGF1 GHRH GH1
26 hyperandrogenism 28.6 PRL POMC INS IGF1 GNRH1 GH1
27 leptin deficiency or dysfunction 28.5 TRH POMC INS IGF1 HCRT GNRH1
28 sleep disorder 28.5 POMC INS IGF1 HCRT CRH
29 major depressive disorder 28.4 TRH PRL POMC INS HCRT CRH
30 anorexia nervosa 28.4 PRL POMC INS IGF1 HCRT GHRH
31 empty sella syndrome 28.3 TRH PRL POMC INS IGF1 GNRH1
32 hypopituitarism 28.3 TRH PRL POMC INS IGF1 GNRH1
33 hypothyroidism 28.2 TSHB TRH PRL POMC INS IGF1
34 hypoglycemia 28.2 TRH PRL POMC INS IGF1 GHRH
35 adenoma 28.0 TSHB TRH PRL POMC IGF1 GHRH
36 hyperprolactinemia 27.9 TRH PRL POMC INS IGF1 GNRH1
37 pituitary hormone deficiency, combined, 2 27.8 TSHB TRH PRL POMC IGF1 GNRH1
38 pituitary adenoma 27.7 TSHB TRH PRL POMC IGF1 GNRH1
39 acromegaly 27.7 TRH PRL POMC INS IGF1 GNRH1
40 pituitary gland disease 27.7 TSHB TRH PRL POMC INS IGF1
41 conn's syndrome 27.5 TRH PRL POMC INS IGF1 GNRH1
42 prader-willi syndrome 27.4 TRH PRL POMC INS IGF1 HCRT
43 body mass index quantitative trait locus 11 27.2 TRH PRL POMC INS IGF1 HCRT
44 rohhad 11.6
45 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome 11.6
46 fryns microphthalmia syndrome 11.1
47 froelich syndrome 10.9
48 leydig cell hypoplasia type ii 10.3 PRL GNRH1
49 pyometritis 10.3 PRL GNRH1
50 chiasmal syndrome 10.3 PRL POMC

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 nervous system MP:0003631 10.2 AVP CRH GH1 GHRH GNRH1 HCRT
2 homeostasis/metabolism MP:0005376 10.06 AVP CRH GH1 GHRH GNRH1 HCRT
3 renal/urinary system MP:0005367 10.03 AVP CRH GH1 GNRH1 IGF1 INS
4 growth/size/body region MP:0005378 9.96 CRH GH1 GHRH GNRH1 HCRT IGF1
5 liver/biliary system MP:0005370 9.95 CRH GH1 GHRH GNRH1 INS POMC
6 adipose tissue MP:0005375 9.85 CRH GH1 GHRH IGF1 INS POMC
7 endocrine/exocrine gland MP:0005379 9.81 CRH GH1 GHRH GNRH1 IGF1 INS
8 behavior/neurological MP:0005386 9.61 AVP CRH GH1 GHRH HCRT INS
9 immune system MP:0005387 9.28 AVP CRH GH1 GHRH GNRH1 IGF1

Drugs & Therapeutics for Hypothalamic Disease

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

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Exenatide Approved, Investigational Phase 4 141758-74-9 45588096
2
Oxytocin Approved, Vet_approved Phase 4 50-56-6 439302 53477758
3
Hydrocortisone succinate Approved Phase 4 2203-97-6 3643
4
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
5
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 3640 5754
6 Arginine Vasopressin Phase 4
7 Hormones Phase 4
8 Hormone Antagonists Phase 4
9 Hypoglycemic Agents Phase 4
10 Glucagon-Like Peptide 1 Phase 4
11 Incretins Phase 4
12 Anti-Obesity Agents Phase 4
13 Corticotropin-Releasing Hormone Phase 4
14 Hydrocortisone 17-butyrate 21-propionate Phase 4
15
Estradiol Approved, Investigational, Vet_approved 50-28-2 5757
16
Polyestradiol phosphate Approved 28014-46-2
17
Lenograstim Approved, Investigational 135968-09-1
18
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
19 Estradiol 3-benzoate
20 Estradiol 17 beta-cypionate
21 Alkylating Agents
22 Antirheumatic Agents
23 Antineoplastic Agents, Alkylating
24 Immunosuppressive Agents
25 Immunologic Factors

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Identification and Clinical Relevance of an Oxytocin Deficient State: a Randomized, Crossover, Placebo-controlled, Proof-of-concept, Physiopathological Study (GLP1 Study) Recruiting NCT04897802 Phase 4 Experimental: GLP1-RA (exenatide) administration;Control: Placebo administration
2 Identification and Clinical Relevance of an Oxytocin Deficient State: a Randomized, Crossover, Placebo-controlled, Proof-of-concept Physiopathological Study (CRH Study) Recruiting NCT04902235 Phase 4 Experimental: CRH administration;Control: Placebo administration
3 The Physiological Changes in Reproductive Hormones During Sustained Administration of Kisspeptin in Humans. Unknown status NCT02081924
4 International Rapid-onset Obesity With Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) REDCap Registry Recruiting NCT03135730
5 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

Organs/tissues related to Hypothalamic Disease:

MalaCards : Hypothalamus, Pituitary, Testes, Thyroid, Occipital Lobe, Brain, Ovary

Publications for Hypothalamic Disease

Articles related to Hypothalamic Disease:

(show top 50) (show all 172)
# Title Authors PMID Year
1
Growth hormone replacement inhibits renal and hepatic 11 beta-hydroxysteroid dehydrogenases in ACTH-deficient patients. 53 62
9828916 1998
2
Dynamics of prolactin secretion in patients with hypopituitarism and pituitary macroadenomas. 53 62
8530591 1995
3
[Disturbance of hypothalamic-pituitary hormone secretion in familial chorea-acanthocytosis]. 53 62
7669403 1995
4
Pathogenesis of pituitary Cushing's syndrome. Pituitary versus hypothalamic. 53 62
7805653 1994
5
An apparent cluster of congenital hypopituitarism in central Massachusetts: magnetic resonance imaging and hormonal studies. 53 62
1846002 1991
6
CRH and lysine-vasopressin stimulation tests in the diagnosis of hypoadrenalism secondary to hypothalamic or pituitary disorders. 53 62
2169450 1990
7
What Works for One May Not Work for Another: A New Warning for Modafinil. 62
36043022 2022
8
Autoimmunity Related to Adipsic Hypernatremia and ROHHAD Syndrome. 62
35805903 2022
9
A new perspective of hypothalamic disease: Shapiro's syndrome. 62
35968294 2022
10
Bexarotene-induced central hypothyroidism assessed by TRH stimulation test in cutaneous T-cell lymphoma patients. 62
34433736 2022
11
European guideline and expert statements on the management of narcolepsy in adults and children. 62
34173288 2021
12
European guideline and expert statements on the management of narcolepsy in adults and children. 62
34173695 2021
13
Effects of Childhood Multidisciplinary Care and Growth Hormone Treatment on Health Problems in Adults with Prader-Willi Syndrome. 62
34362034 2021
14
Biochemical transition during triphasic postpartum thyroiditis: confusion with central hypothyroidism. 62
34280894 2021
15
Multidisciplinary Approach for Hypothalamic Obesity in Children and Adolescents: A Preliminary Study. 62
34206290 2021
16
Case Report: A Rare Case of Coexisting of Autoimmune Polyglandular Syndrome Type 3 and Isolated Gonadotropin-Releasing Hormone Deficiency. 62
34594339 2021
17
"Non-Classical" Indication for Provocative Testing of Growth Hormone: A Retrospective Cohort Study in Adult Patients Under Replacement Therapy. 62
32990548 2021
18
Missed Diagnoses and Health Problems in Adults With Prader-Willi Syndrome: Recommendations for Screening and Treatment. 62
32877518 2020
19
Conventional autoantibodies against brain antigens are not routinely detectable in serum and CSF of narcolepsy type 1 and 2 patients. 62
32858359 2020
20
Testosterone Supplementation Rescues Spermatogenesis and In Vitro Fertilizing Ability of Sperm in Kiss1 Knockout Mice. 62
32514526 2020
21
Sarcoidosis and the Nervous System. 62
32487903 2020
22
Narcolepsy - clinical spectrum, aetiopathophysiology, diagnosis and treatment. 62
31324898 2019
23
Management of hypothalamic disease in patients with craniopharyngioma. 62
30614015 2019
24
Adipsic Diabetes Insipidus-The Challenging Combination of Polyuria and Adipsia: A Case Report and Review of Literature. 62
31620086 2019
25
A hotspots analysis-relation discovery representation model for revealing diabetes mellitus and obesity. 62
30547805 2018
26
Reference intervals for thyrotropin in an area of Northern Italy: the Pordenone thyroid study (TRIPP). 62
29340973 2018
27
Hypothermia in Multiple Sclerosis: Beyond the Hypothalamus? A Case Report and Review of the Literature. 62
29755800 2018
28
Pediatric Adrenal Insufficiency: Diagnosis, Management, and New Therapies. 62
30515225 2018
29
[The hypothalamus in Huntington's disease]. 62
29071701 2017
30
Diabetes insipidus and hypopituitarism in HIV: an unexpected cause. 62
28620498 2017
31
Central hypothyroidism and its role for cardiovascular risk factors in hypopituitary patients. 62
27481361 2016
32
[Addison's disease : Primary adrenal insufficiency]. 62
27129928 2016
33
The Evaluation of Adrenal Function in Two Cases of Hypocortisolism Accompanied by Liver Cirrhosis. 62
27041161 2016
34
Paraneoplastic limbic encephalitis with associated hypothalamitis mimicking a hyperdense hypothalamic tumor: a case report. 62
26782815 2016
35
Management of Craniopharyngioma - Perspectives beyond Surgery and Endocrinology. 62
29632577 2015
36
Oral manifestations of hypothyroidism: a case report. 62
24995258 2014
37
Psychotropic-induced hyperprolactinemia: a clinical review. 62
24140188 2014
38
Comparison of body composition, basal metabolic rate and metabolic outcomes of adults with Prader Willi syndrome or lesional hypothalamic disease, with primary obesity. 62
23318724 2013
39
GLP-1 analogues as a new treatment option for hypothalamic obesity in adults: report of nine cases. 62
23392214 2013
40
Hypothalamic germinoma masquerading as superior mesenteric artery (SMA) syndrome. 62
23186972 2013
41
Development and validation of a new questionnaire assessing quality of life in adults with hypopituitarism: Adult Hypopituitarism Questionnaire (AHQ). 62
22984490 2012
42
Management of subclinical hyperthyroidism. 62
23843809 2012
43
Partial hypopituitarism and Langerhans cell histiocytosis. 62
22715201 2011
44
Disorder in the serotonergic system due to tryptophan hydroxylation impairment: a cause of hypothalamic syndrome? 62
20190542 2010
45
Slow-growing craniopharyngioma masquarading as early-onset eating disorder: two cases. 62
19115368 2009
46
[Visual pathway and pituitary stalk protection in pituitary tumor surgery and the clinical outcome]. 62
19246307 2009
47
Clinical perspectives on the genetics of schizophrenia: a bottom-up orientation. 62
19073422 2008
48
Androgens may mediate a relative preservation of IGF-I levels in overweight and obese women despite reduced growth hormone secretion. 62
18647804 2008
49
Diagnostic usefulness of the growth hormone-releasing peptide-2 test as a substitute for the insulin tolerance test in hypopituitarism. 62
18493103 2008
50
Growth hormone deficiency by growth hormone releasing hormone-arginine testing criteria predicts increased cardiovascular risk markers in normal young overweight and obese women. 62
18445664 2008

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 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.28 PRL INS IGF1 GNRH1 GHRH GH1
2
Show member pathways
13.28 TSHB TRH POMC HCRT GNRH1 GHRH
3
Show member pathways
12.99 AVP CRH GHRH GNRH1 HCRT POMC
4
Show member pathways
12.78 INS IGF1 GNRH1 GHRH GH1
5 12.74 TSHB TRH POMC INS IGF1 HCRT
6
Show member pathways
12.46 IGF1 GNRH1 GHRH GH1
7
Show member pathways
12.41 POMC GHRH GH1 CRH
8
Show member pathways
12.4 IGF1 GNRH1 GHRH GH1
9
Show member pathways
12.14 IGF1 GNRH1 GHRH GH1
10 11.84 GH1 IGF1 INS
11
Show member pathways
11.78 TSHB POMC INS IGF1 GH1
12
Show member pathways
11.56 TSHB POMC GHRH CRH AVP
13 11.55 POMC TRH TSHB
14 11.47 IGF1 GNRH1 GHRH GH1
15 11.4 POMC INS GNRH1 GHRH
16
Show member pathways
11.07 TRH POMC
17
Show member pathways
11.05 POMC CRH
18 10.85 PRL POMC INS
19 10.78 IGF1 GNRH1 GHRH GH1
20 10.59 TSHB GNRH1
21 10.28 POMC CRH

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 9.96 AVP CRH GH1 GHRH GNRH1 IGF1
2 secretory granule GO:0030141 9.86 TRH POMC HCRT AVP
3 extracellular region GO:0005576 9.7 TSHB TRH PRL POMC INS IGF1
4 endosome lumen GO:0031904 9.63 PRL INS GH1

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

# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.03 AVP CRH GH1 GNRH1 IGF1 INS
2 positive regulation of cell population proliferation GO:0008284 10.02 PRL INS IGF1 GHRH AVP
3 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.85 INS IGF1 GH1
4 positive regulation of glycogen biosynthetic process GO:0045725 9.71 INS IGF1
5 negative regulation of transmission of nerve impulse GO:0051970 9.56 HCRT AVP
6 cell-cell signaling GO:0007267 9.47 TSHB TRH POMC INS GNRH1 GHRH
7 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.43 IGF1 GHRH GH1

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

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.6 TSHB TRH PRL POMC INS IGF1
2 insulin-like growth factor receptor binding GO:0005159 9.56 INS IGF1
3 neuropeptide hormone activity GO:0005184 9.56 HCRT GHRH CRH AVP
4 prolactin receptor binding GO:0005148 9.46 PRL GH1

Sources for Hypothalamic Disease

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....