MCID: HYP085
MIFTS: 38

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 44 70
Hypothalamic Dysfunction Syndromes 70
Hypothalamic Dysfunction 73
Hypothalamic Disorder 54

Classifications:



External Ids:

Disease Ontology 12 DOID:1931
MeSH 44 D007027
SNOMED-CT 67 88108008
ICD10 32 E23.3
UMLS 70 C0020655 C0751230

Summaries for Hypothalamic Disease

MalaCards based summary : Hypothalamic Disease, also known as hypothalamic diseases, is related to precocious puberty and hypogonadism. 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 Cyclophosphamide and Lenograstim have been mentioned in the context of this disorder. Affiliated tissues include pituitary, thyroid and hypothalamus, and related phenotypes are endocrine/exocrine gland and liver/biliary system

Wikipedia : 73 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 299)
# Related Disease Score Top Affiliating Genes
1 precocious puberty 30.5 GNRH1 GH1
2 hypogonadism 30.2 PRL INS GNRH1
3 hypothalamic obesity 30.0 INS GHRH
4 gangliocytoma 29.9 PRL POMC GHRH CRH
5 neurotic disorder 29.9 POMC INS
6 pituitary tumors 29.8 PRL POMC GH1
7 polycystic ovary syndrome 29.8 PRL INS GNRH1 GH1
8 mental depression 29.7 POMC INS CRH
9 amenorrhea 29.6 TRH PRL POMC INS GNRH1 CRH
10 hypogonadotropic hypogonadism 29.6 PRL INS GNRH1
11 anovulation 29.6 PRL INS GNRH1 CRH
12 diabetes insipidus 29.6 PRL POMC INS GH1 CRH AVP
13 craniopharyngioma 29.5 TRH PRL INS GNRH1 GH1
14 sexual disorder 29.5 PRL POMC INS GNRH1
15 hyperandrogenism 29.5 PRL POMC INS GNRH1
16 major depressive disorder 29.4 PRL POMC HCRT CRH
17 hypoglycemia 29.4 PRL POMC INS GH1 CRH
18 body mass index quantitative trait locus 11 29.2 TRH POMC INS HCRT GHRH GH1
19 ovarian disease 29.2 PRL POMC INS GNRH1 GH1
20 hyperprolactinemia 29.2 TRH PRL POMC INS GNRH1 GHRH
21 anxiety 29.1 PRL POMC INS HCRT CRH
22 anorexia nervosa 29.0 PRL POMC INS HCRT GHRH GH1
23 sleep disorder 29.0 PRL POMC INS HCRT CRH
24 adenoma 29.0 TRH PRL POMC GHRH GH1 CRH
25 hypothyroidism 28.7 TSHB TRH PRL POMC INS GNRH1
26 hypopituitarism 28.6 TRH PRL POMC INS GNRH1 GHRH
27 pituitary hormone deficiency, combined, 2 28.5 TSHB TRH PRL POMC GHRH GH1
28 prader-willi syndrome 28.5 TRH PRL POMC INS HCRT GNRH1
29 acromegaly 28.3 TRH PRL POMC INS GNRH1 GHRH
30 pituitary adenoma 28.2 TSHB TRH PRL POMC GNRH1 GHRH
31 pituitary gland disease 28.1 TSHB TRH PRL POMC INS GNRH1
32 rohhad 11.5
33 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome 11.4
34 shapiro syndrome 11.1
35 fryns microphthalmia syndrome 11.1
36 froelich syndrome 10.9
37 sexual sadism 10.3 PRL CRH
38 fibrous dysplasia/mccune-albright syndrome 10.3 PRL GH1
39 pyometritis 10.3 PRL GNRH1
40 body mass index quantitative trait locus 9 10.3
41 body mass index quantitative trait locus 8 10.3
42 body mass index quantitative trait locus 4 10.3
43 body mass index quantitative trait locus 10 10.3
44 body mass index quantitative trait locus 7 10.3
45 body mass index quantitative trait locus 12 10.3
46 body mass index quantitative trait locus 14 10.3
47 body mass index quantitative trait locus 18 10.3
48 body mass index quantitative trait locus 19 10.3
49 generalized resistance to thyroid hormone 10.3 TRH PRL
50 partial third-nerve palsy 10.3 PRL GH1

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.8 CRH GHRH GNRH1 INS POMC PRL
2 liver/biliary system MP:0005370 9.63 CRH GHRH GNRH1 INS POMC PRL
3 nervous system MP:0003631 9.61 AVP CRH GHRH GNRH1 HCRT INS
4 renal/urinary system MP:0005367 9.1 AVP CRH GNRH1 INS POMC TRH

Drugs & Therapeutics for Hypothalamic Disease

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
2
Lenograstim Approved, Investigational 135968-09-1
3 Immunologic Factors
4 Immunosuppressive Agents
5 Antirheumatic Agents
6 Alkylating Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 International Rapid-onset Obesity With Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) REDCap Registry Recruiting NCT03135730
2 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, Thyroid, Hypothalamus, Bone, Cerebellum, Occipital Lobe, Pineal

Publications for Hypothalamic Disease

Articles related to Hypothalamic Disease:

(show top 50) (show all 104)
# 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. 61 54
8530591 1995
3
An apparent cluster of congenital hypopituitarism in central Massachusetts: magnetic resonance imaging and hormonal studies. 54 61
1846002 1991
4
Is HPV the Novel Target in Male Idiopathic Infertility? A Systematic Review of the Literature. 61
33763033 2021
5
"Non-classical" indication for provocative testing of growth hormone: a retrospective cohort study in adult patients under replacement therapy. 61
32990548 2020
6
Sarcoidosis and the Nervous System. 61
32487903 2020
7
Is the Cerebellum Involved in the Nervous Control of the Immune System Function? 61
31729296 2020
8
Management of hypothalamic disease in patients with craniopharyngioma. 61
30614015 2019
9
A hotspots analysis-relation discovery representation model for revealing diabetes mellitus and obesity. 61
30547805 2018
10
Reference intervals for thyrotropin in an area of Northern Italy: the Pordenone thyroid study (TRIPP). 61
29340973 2018
11
Pediatric Adrenal Insufficiency: Diagnosis, Management, and New Therapies. 61
30515225 2018
12
Hypothermia in Multiple Sclerosis: Beyond the Hypothalamus? A Case Report and Review of the Literature. 61
29755800 2018
13
Generation and Characterization of Functional Human Hypothalamic Neurons. 61
29064566 2017
14
Diabetes insipidus and hypopituitarism in HIV: an unexpected cause. 61
28620498 2017
15
Central hypothyroidism and its role for cardiovascular risk factors in hypopituitary patients. 61
27481361 2016
16
[Addison's disease : Primary adrenal insufficiency]. 61
27129928 2016
17
Paraneoplastic limbic encephalitis with associated hypothalamitis mimicking a hyperdense hypothalamic tumor: a case report. 61
26782815 2016
18
Management of Craniopharyngioma - Perspectives beyond Surgery and Endocrinology. 61
29632577 2015
19
Oral manifestations of hypothyroidism: a case report. 61
24995258 2014
20
Psychotropic-induced hyperprolactinemia: a clinical review. 61
24140188 2014
21
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
22
GLP-1 analogues as a new treatment option for hypothalamic obesity in adults: report of nine cases. 61
23392214 2013
23
Hypothalamic germinoma masquerading as superior mesenteric artery (SMA) syndrome. 61
23186972 2013
24
Management of subclinical hyperthyroidism. 61
23843809 2012
25
Partial hypopituitarism and Langerhans cell histiocytosis. 61
22715201 2011
26
Androgens may mediate a relative preservation of IGF-I levels in overweight and obese women despite reduced growth hormone secretion. 61
18647804 2008
27
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
28
Hypopituitarism. 61
17077946 2006
29
Gene-transfer technology: a preventive neurotherapy to curb obesity, ameliorate metabolic syndrome and extend life expectancy. 61
16125798 2005
30
Neurocognitive function in adults with growth hormone deficiency. 61
16439853 2005
31
Is the thyrotropin-releasing hormone test necessary in the diagnosis of central hypothyroidism in children. 61
14671155 2003
32
Osteopenic mice: animal models of the aging skeleton. 61
15758436 2002
33
Diagnosis and management of growth hormone deficiency in adults. 61
11571930 2001
34
Serum thyroid-stimulating hormone measurement for assessment of thyroid function and disease. 61
11444162 2001
35
Basal, pulsatile, entropic, and 24-hour rhythmic features of secondary hyperprolactinemia due to functional pituitary stalk disconnection mimic tumoral (primary) hyperprolactinemia. 61
11297584 2001
36
Central control of bone formation. 61
11368306 2001
37
Pituitary-thyroid feedback hypersensitivity as a novel cause of hypothyroidism in children. 61
11072946 2000
38
Experience with cyproterone acetate in the treatment of precocious puberty. 61
10969925 2000
39
Kleine-Levin and Munchausen syndromes in a patient with recurrent acromegaly. 61
10069657 1999
40
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
41
Clinical review 86: Euthyroid sick syndrome: is it a misnomer? 61
9024211 1997
42
Obese (ob) gene defects are rare in human obesity. 61
9061713 1997
43
Hypothalamic disease: neurosecretory dysfunction and parasellar lesions. 61
9174692 1997
44
Hyperprolactinemia. 61
29224529 1996
45
A comparison between short ACTH and insulin stress tests for assessing hypothalamo-pituitary-adrenal function. 61
8706316 1996
46
Endocrine abnormalities in hemodialysis patients with iron overload: reversal with iron depletion. 61
8748213 1995
47
[Disturbance of hypothalamic-pituitary hormone secretion in familial chorea-acanthocytosis]. 54
7669403 1995
48
High efficacy of gonadotropin or pulsatile gonadotropin-releasing hormone treatment in hypogonadotropic hypogonadal men. 54
7921222 1994
49
Pathogenesis of pituitary Cushing's syndrome. Pituitary versus hypothalamic. 54
7805653 1994
50
Chronic hypothermia and water intoxication associated with a neurodegenerative disease. 61
8121871 1993

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.75 TSHB TRH POMC INS HCRT GNRH1
2
Show member pathways
12.6 TSHB TRH PRL POMC HCRT GNRH1
3
Show member pathways
12.55 TSHB POMC INS CRH
5
Show member pathways
11.82 TSHB POMC INS GH1
6 11.52 TSHB POMC GHRH CRH AVP
7
Show member pathways
10.91 TRH POMC
8 10.63 PRL POMC INS
9 10.48 TSHB GNRH1
10 10.17 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 9.61 TSHB PRL POMC INS GNRH1 GHRH
2 secretory granule GO:0030141 9.56 TRH POMC HCRT AVP
3 perikaryon GO:0043204 9.5 GNRH1 GHRH CRH
4 extracellular region GO:0005576 9.36 TSHB TRH PRL POMC INS HCRT
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 9.86 TRH PRL POMC INS GNRH1 GH1
2 positive regulation of cell proliferation GO:0008284 9.77 PRL INS GHRH CRH AVP
3 response to organic cyclic compound GO:0014070 9.67 TRH GNRH1 AVP
4 female pregnancy GO:0007565 9.61 PRL GNRH1 CRH
5 G protein-coupled receptor signaling pathway GO:0007186 9.61 TSHB TRH POMC INS HCRT GNRH1
6 response to testosterone GO:0033574 9.56 GNRH1 AVP
7 positive regulation of JAK-STAT cascade GO:0046427 9.55 PRL GH1
8 positive regulation of multicellular organism growth GO:0040018 9.54 GHRH GH1
9 eating behavior GO:0042755 9.52 TRH HCRT
10 response to corticosterone GO:0051412 9.51 TRH CRH
11 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.48 PRL GH1
12 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.46 GHRH GH1
13 response to ethanol GO:0045471 9.46 TRH GNRH1 CRH AVP
14 negative regulation of feeding behavior GO:2000252 9.4 TRH INS
15 negative regulation of transmission of nerve impulse GO:0051970 9.32 HCRT AVP
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 hormone activity GO:0005179 9.32 TSHB TRH PRL POMC INS GNRH1
2 neuropeptide hormone activity GO:0005184 9.26 HCRT GHRH CRH AVP
3 prolactin receptor binding GO:0005148 9.16 PRL GH1

Sources for Hypothalamic Disease

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
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