MCID: HYP085
MIFTS: 42

Hypothalamic Disease

Categories: Endocrine diseases, Neuronal diseases
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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 Oxytocin and Exenatide 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 389)
# 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 panic disorder 29.3 TRH PRL POMC GHRH CRH
11 sleep apnea 29.2 INS IGF1 HCRT
12 prediabetes syndrome 29.2 INS IGF1 GH1
13 hypogonadism 29.2 PRL POMC INS IGF1 GNRH1 GH1
14 central diabetes insipidus 29.2 TRH PRL POMC IGF1 GNRH1 GH1
15 overnutrition 29.1 POMC INS IGF1
16 pituitary-dependent cushing's disease 29.1 TRH PRL POMC GHRH GH1 CRH
17 apnea, obstructive sleep 29.0 POMC INS IGF1 HCRT
18 amenorrhea 28.9 TRH PRL POMC INS IGF1 GNRH1
19 mccune-albright syndrome 28.9 PRL POMC IGF1 GHRH GH1
20 anovulation 28.9 PRL INS IGF1 GNRH1 CRH
21 craniopharyngioma 28.9 TRH PRL INS IGF1 GNRH1 GH1
22 hypogonadotropic hypogonadism 28.8 PRL POMC INS IGF1 GNRH1
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 sleep disorder 28.5 POMC INS IGF1 HCRT CRH
28 leptin deficiency or dysfunction 28.5 TRH POMC INS IGF1 HCRT GNRH1
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 hypothyroidism 28.2 TSHB TRH PRL POMC INS IGF1
33 hypoglycemia 28.2 TRH PRL POMC INS IGF1 GHRH
34 hypopituitarism 28.2 TRH PRL POMC INS IGF1 GNRH1
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 prader-willi syndrome 27.8 TRH PRL POMC INS IGF1 HCRT
39 pituitary adenoma 27.7 TSHB TRH PRL POMC IGF1 GNRH1
40 acromegaly 27.7 TRH PRL POMC INS IGF1 GNRH1
41 pituitary gland disease 27.7 TSHB TRH PRL POMC INS IGF1
42 conn's syndrome 27.5 TRH PRL POMC INS IGF1 GNRH1
43 body mass index quantitative trait locus 11 27.2 TRH PRL POMC INS IGF1 HCRT
44 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome 11.6
45 rohhad 11.5
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
Oxytocin Approved, Vet_approved Phase 4 50-56-6 53477758 439302
2
Exenatide Approved, Investigational Phase 4 141758-74-9 45588096
3
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 3640 5754
4
Hydrocortisone succinate Approved Phase 4 2203-97-6 3643
5
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
6 Arginine Vasopressin Phase 4
7 Glucagon-Like Peptide 1 Phase 4
8 Incretins Phase 4
9 Hormones Phase 4
10 Hormone Antagonists Phase 4
11 Anti-Obesity Agents Phase 4
12 Hypoglycemic 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
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
18
Lenograstim Approved, Investigational 135968-09-1
19 Estradiol 3-benzoate
20 Estradiol 17 beta-cypionate
21 Antineoplastic Agents, Alkylating
22 Antirheumatic Agents
23 Immunosuppressive Agents
24 Alkylating 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, Brain, Pineal, Ovary

Publications for Hypothalamic Disease

Articles related to Hypothalamic Disease:

(show top 50) (show all 975)
# 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
MKRN3 circulating levels in Prader-Willi syndrome: a pilot study. 62
35854182 2022
8
Precocious puberty in narcolepsy type 1: Orexin loss and/or neuroinflammation, which is to blame? 62
36096986 2022
9
Genomic analysis, immunomodulation and deep phenotyping of patients with nodding syndrome. 62
36181424 2022
10
Benfotiamine protects against hypothalamic dysfunction in a STZ-induced model of neurodegeneration in rats. 62
35907494 2022
11
Diagnosis and Management of Pediatric Papillary Craniopharyngiomas. 62
35660482 2022
12
Linking oxytocin and arginine vasopressin signaling abnormalities to social behavior impairments in Prader-Willi syndrome. 62
36113782 2022
13
Resting energy expenditure in children at risk of hypothalamic dysfunction. 62
35904233 2022
14
Rituximab therapy in ROHHAD(NET) syndrome. 62
35470643 2022
15
The clinical and metabolic characteristics of children and adolescents with hypothalamic dysfunction: A single-centre study from China. 62
35978545 2022
16
Hypothalamic Hnscr regulates glucose balance by mediating central inflammation and insulin signal. 62
36042571 2022
17
Features of Pregnancy Management in Kidney Transplant Recipients. 62
36018030 2022
18
ZSCAN1 Autoantibodies Are Associated with Pediatric Paraneoplastic ROHHAD. 62
35466441 2022
19
Identification of clinical factors related to antibody-mediated immune response to the subfornical organ. 62
35419873 2022
20
What Works for One May Not Work for Another: A New Warning for Modafinil. 62
36043022 2022
21
The effect of weight loss on hypothalamus structure and function in obese individuals: a systematic review and meta-analysis. 62
35659180 2022
22
Body mass index at diagnosis of a childhood brain tumor; a reflection of hypothalamic-pituitary dysfunction or lifestyle? 62
35416504 2022
23
Dietary administration of D-chiro-inositol attenuates sex-specific metabolic imbalances in the 5xFAD mouse model of Alzheimer's disease. 62
35483188 2022
24
Autoimmunity Related to Adipsic Hypernatremia and ROHHAD Syndrome. 62
35805903 2022
25
Approach to the Patient: Management of Pituitary Hormone Replacement Through Transition. 62
35262704 2022
26
Perivascular macrophages in high-fat diet-induced hypothalamic inflammation. 62
35681242 2022
27
The timeline of neuronal and glial alterations in experimental obesity. 62
35143850 2022
28
Weight management in youth with rapid-onset obesity with hypothalamic dysregulation, hypoventilation, autonomic dysregulation, and neural crest tumor (ROHHAD-NET): literature search and case report. 62
34954931 2022
29
Novel Case Presentation of Abulia After Lone Star Tick Bite As Evidenced by Raised Titers of Alpha-Gal Specific IgM Immunoglobulin and a Possibility of Alpha-Gal Driven Hypothalamic Dysfunction As the Pathomechanism. 62
35651471 2022
30
Hypothalamic expression of huntingtin causes distinct metabolic changes in Huntington's disease mice. 62
35007790 2022
31
Circulating insulin-like growth factor 1 levels are reduced in very young children with Prader-Willi syndrome independent of anthropometric parameters and nutritional status. 62
34750859 2022
32
Surgical management of pituicytomas: a single-center case series. 62
35301693 2022
33
Evolution of physiologic and autonomic phenotype in rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation over a decade from age at diagnosis. 62
34694990 2022
34
The Role of Surgical Approaches in the Multi-Modal Management of Adult Craniopharyngiomas. 62
35323318 2022
35
Syndrome of Inappropriate Antidiuretic Hormone Secretion (SIADH) and Precocious Puberty With a Third Ventricle Arachnoid Cyst. 62
35308703 2022
36
Transition From Diencephalic Syndrome to Hypothalamic Obesity in Children With Suprasellar Low Grade Glioma: A Case Series. 62
35464054 2022
37
Images: Sleep-disordered breathing and hypoventilation in a child with obesity and hypothalamic dysfunction. 62
34534067 2022
38
A Case Report of Hyperestrogenism in Prader-Willi Syndrome. 62
35097192 2022
39
In vivo neuroimaging evidence of hypothalamic alteration in Prader-Willi syndrome. 62
36147452 2022
40
Developmental disorders affecting the respiratory system: CCHS and ROHHAD. 62
36031316 2022
41
ROHHAD syndrome without rapid-onset obesity: A diagnosis challenge. 62
36120648 2022
42
A new perspective of hypothalamic disease: Shapiro's syndrome. 62
35968294 2022
43
Case Report: Considerations of nocturnal ventilator support in ROHHAD syndrome in chronic care of childhood central hypoventilation with hypothalamus dysfunction. 62
36120657 2022
44
Bexarotene-induced central hypothyroidism assessed by TRH stimulation test in cutaneous T-cell lymphoma patients. 62
34433736 2022
45
Peri-operative management of a child with ROHHAD-NET syndrome undergoing neural crest tumour excision. 62
35756834 2022
46
An Efficient Method for the Isolation and Cultivation of Hypothalamic Neural Stem/Progenitor Cells From Mouse Embryos. 62
35185481 2022
47
Papillary Craniopharyngioma: A Type of Tumor Primarily Impairing the Hypothalamus - A Comprehensive Anatomo-Clinical Characterization of 350 Well-Described Cases. 62
35108706 2022
48
Loss of C2 Domain Protein (C2CD5) Alters Hypothalamic Mitochondrial Trafficking, Structure, and Function. 62
34034255 2022
49
A 40-Year Cohort Study of Evolving Hypothalamic Dysfunction in Infants and Young Children (<3 years) with Optic Pathway Gliomas. 62
35159015 2022
50
Recurrent Hypothalamic Dysfunction in Seropositive Neuromyelitis Optica. 62
34992979 2021

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 12.73 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
11.79 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 11.41 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 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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