Hypothalamic Disease disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: HYP085 MIFTS: 48	Hypothalamic Disease Categories: Rare diseases, Endocrine diseases, Bone diseases, Neuronal diseases
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Aliases & Classifications for Hypothalamic Disease

MalaCards integrated aliases for Hypothalamic Disease:

Name: Hypothalamic Disease ¹² ¹⁵

Hypothalamic Dysfunction ⁷⁶ ⁵³

Hypothalamic Diseases ⁴⁴ ⁷³

Hypothalamic Dysfunction Syndromes ⁷³

Hypothalamic Disorder ⁵⁵

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Endocrine diseases Bone diseases Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Endocrine, nutritional and metabolic diseases

Disorders of other endocrine glands

Hypofunction and other disorders of pituitary gland

Hypothalamic dysfunction, not elsewhere classified

External Ids:

Disease Ontology ¹² DOID:1931

MeSH ⁴⁴ D007027

SNOMED-CT ⁶⁸ 190463005 399100005 88108008

ICD10 ³³ E23.3

UMLS ⁷³ C0020655 C0751230

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Summaries for Hypothalamic Disease

NIH Rare Diseases : ⁵³ Hypothalamic dysfunction refers to a condition in which the hypothalamus is not working properly. The hypothalamus produces hormones that control body temperature, hunger, moods, release of hormones from many glands such as the pituitary gland, sex drive, sleep, and thirst. The signs and symptoms patients have vary depending on the hormones missing. A number of different causes including anorexia, bleeding, genetic disorder, tumors, and more have been linked to hypothalamic dysfunction. Treatment depends on the cause of the hypothalamic dysfunction.

MalaCards based summary : Hypothalamic Disease, also known as hypothalamic dysfunction, is related to prader-willi syndrome and acromegaly. An important gene associated with Hypothalamic Disease is CRH (Corticotropin Releasing Hormone), and among its related pathways/superpathways are TGF-Beta Pathway and G-Beta Gamma Signaling. The drugs Zinc and Menthol have been mentioned in the context of this disorder. Affiliated tissues include pituitary, testes and brain, and related phenotypes are endocrine/exocrine gland and immune system

Wikipedia : ⁷⁶ Hypopituitarism is the decreased (hypo) secretion of one or more of the eight hormones normally produced... more...

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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 110)

#	Related Disease	Score	Top Affiliating Genes
1	prader-willi syndrome	28.0	GH1 GNRH1 POMC
2	acromegaly	27.3	GH1 GHRH POMC PRL
3	rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome	12.3
4	rohhad	11.9
5	shapiro syndrome	11.0
6	fryns microphthalmia syndrome	11.0
7	x-linked lissencephaly with abnormal genitalia	10.9
8	froelich syndrome	10.7
9	melancholia	10.4	CRH PRL
10	postpartum depression	10.4	CRH PRL
11	endometriosis of uterus	10.3	GNRH1 PRL
12	hypogonadotropism	10.3	GNRH1 PRL
13	fibrous dysplasia/mccune-albright syndrome	10.2	GH1 PRL
14	hypothalamic adipsic hypernatraemia syndrome	10.2
15	tsh producing pituitary tumor	10.2	GH1 PRL
16	anovulation	10.2	GNRH1 PRL
17	pseudohypoparathyroidism, type ia	10.2	GH1 PRL
18	pituitary adenoma 1, multiple types	10.2	GH1 PRL
19	varicocele	10.2	GNRH1 PRL
20	tetrahydrobiopterin deficiency	10.2	GH1 PRL
21	pituitary stalk interruption syndrome	10.1	GH1 PRL
22	mccune-albright syndrome	10.1	GH1 PRL
23	fibrous dysplasia	10.1	GH1 PRL
24	isolated growth hormone deficiency, type ib	10.1	GH1 GHRH
25	aromatase deficiency	10.1	GH1 GNRH1
26	reproductive system disease	10.1	GNRH1 PRL
27	precocious puberty	10.1	GH1 GNRH1
28	isolated growth hormone deficiency, type ii	10.1	GH1 GHRH
29	isolated growth hormone deficiency	10.0	GH1 GHRH
30	acth deficiency, isolated	10.0	CRH POMC
31	fasting hypoglycemia	10.0	CRH POMC
32	adrenal cortical hypofunction	10.0	CRH POMC
33	withdrawal disorder	10.0	CRH POMC
34	ectopic cushing syndrome	10.0	CRH POMC
35	persistent fetal circulation syndrome	10.0	CRH POMC
36	dwarfism	10.0	GH1 GHRH
37	growth hormone deficiency	10.0	GH1 GHRH
38	hypoadrenocorticism, familial	9.9	CRH POMC
39	central nervous system organ benign neoplasm	9.9	POMC PRL
40	premature ovarian failure 1	9.9	GNRH1 PRL
41	mental depression	9.9	CRH POMC
42	hyperthyroidism	9.9	GH1 PRL
43	adrenal adenoma	9.9	CRH POMC
44	gynecomastia	9.9	POMC PRL
45	ovarian disease	9.9	GNRH1 PRL
46	thyroid gland disease	9.8	POMC PRL
47	adrenal rest tumor	9.8	GNRH1 POMC
48	organ system benign neoplasm	9.8	POMC PRL
49	adrenal carcinoma	9.8	CRH POMC
50	endocrine pancreas disease	9.8	GHRH POMC

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

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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	9.55	CRH GHRH GNRH1 POMC PRL
2	immune system	MP:0005387	9.35	CRH GHRH GNRH1 POMC PRL
3	liver/biliary system	MP:0005370	9.02	CRH GHRH GNRH1 POMC PRL

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Drugs & Therapeutics for Hypothalamic Disease

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

(show top 50) (show all 325)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Zinc

Approved, Investigational

Phase 4,Phase 3,Not Applicable,Early Phase 1

7440-66-6

23994

Menthol

Approved

Phase 4

2216-51-5

16666

Hydrocortisone

Approved, Vet_approved

Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1

50-23-7

5754

Dopamine

Approved

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

51-61-6, 62-31-7

681

Cabergoline

Approved

Phase 4,Phase 3,Phase 2,Not Applicable

81409-90-7

54746

Risperidone

Approved, Investigational

Phase 4,Phase 3,Not Applicable

106266-06-2

5073

Aripiprazole

Approved, Investigational

Phase 4,Not Applicable

129722-12-9

60795

Octreotide

Approved, Investigational

Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable

83150-76-9

383414 6400441

lanreotide

Approved

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

108736-35-2

Epinephrine

Approved, Vet_approved

Phase 4,Not Applicable

51-43-4

5816

Prednisone

Approved, Vet_approved

Phase 4

53-03-2

5865

Somatostatin

Approved, Investigational

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

38916-34-6, 51110-01-1

53481605

Racepinephrine

Approved

Phase 4,Not Applicable

329-65-7

838

Quinagolide

Approved, Investigational

Phase 4

97805-50-0, 87056-78-8

105105

Estradiol valerate

Approved, Investigational, Vet_approved

Phase 4,Phase 3,Phase 2,Not Applicable

979-32-8

Morphine

Approved, Investigational

Phase 4

57-27-2

5288826

Triamcinolone

Approved, Vet_approved

Phase 4

124-94-7

31307

Oxycodone

Approved, Illicit, Investigational

Phase 4

76-42-6

5284603

Prednisolone

Approved, Vet_approved

Phase 4,Phase 2

50-24-8

5755

Acetaminophen

Approved

Phase 4

103-90-2

1983

Ibuprofen

Approved

Phase 4

15687-27-1

3672

Hydromorphone

Approved, Illicit

Phase 4

466-99-9

5284570

Estradiol

Approved, Investigational, Vet_approved

Phase 4,Phase 3,Phase 2,Not Applicable

50-28-2

5757

Methylprednisolone

Approved, Vet_approved

Phase 4,Phase 2

83-43-2

6741

Cosyntropin

Approved

Phase 4

16960-16-0

16129617

Polyestradiol phosphate

Approved

Phase 4,Phase 3,Phase 2,Not Applicable

28014-46-2

Sulfamethoxazole

Approved

Phase 4

723-46-6

5329

Metformin

Approved

Phase 4

657-24-9

14219 4091

Cefazolin

Approved

Phase 4

25953-19-9

656510 33255

Trimethoprim

Approved, Vet_approved

Phase 4

738-70-5

5578

Cefdinir

Approved

Phase 4

91832-40-5

6915944

Dexmedetomidine

Approved, Vet_approved

Phase 4

113775-47-6

68602 5311068

Liraglutide

Approved

Phase 4

204656-20-2

44147092

Cefuroxime

Approved

Phase 4

55268-75-2

5361202 5479529

Clindamycin

Approved, Vet_approved

Phase 4

18323-44-9

29029

leucovorin

Approved, Nutraceutical

Phase 4,Phase 1

58-05-9

143 6006

Folic Acid

Approved, Nutraceutical, Vet_approved

Phase 4,Phase 2,Phase 1

59-30-3

6037

Butyric Acid

Experimental, Investigational

Phase 4,Not Applicable,Early Phase 1

107-92-6

264

Lactitol

Investigational

Phase 4,Phase 3,Phase 1

585-86-4

3871

insulin

Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1

glucocorticoids

Phase 4,Phase 2,Phase 1,Not Applicable

Dopamine agonists

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Respiratory System Agents

Phase 4,Not Applicable

Central Nervous System Depressants

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Adrenergic Agents

Phase 4,Phase 3,Phase 2,Not Applicable

Adrenergic Agonists

Phase 4,Phase 3,Not Applicable

Adrenergic alpha-Agonists

Phase 4,Phase 3,Not Applicable

Mitogens

Phase 4,Phase 3,Phase 2,Early Phase 1,Not Applicable

Adrenergic beta-Agonists

Phase 4,Not Applicable

Serotonin 5-HT2 Receptor Antagonists

Phase 4

Interventional clinical trials:

(show top 50) (show all 553)

#	Name	Status	NCT ID	Phase	Drugs
1	Effect of Perioperative Glucocorticoid Replacement on Prognosis of Surgical Patients With Sellar Lesions	Unknown status	NCT02190994	Phase 4	Hydrocortisone;Prednisone
2	A Multicenter Study to Evaluate the Effects of Switching to Aripiprazole 12 Weeks on the Sexual Dysfunction From Risperidone or Paliperidone in Patients With Schizophrenia Spectrum Disorders or Bipolar Spectrum Disorders	Unknown status	NCT01742390	Phase 4	Aripiprazole;risperidone or paliperidone
3	Phase IV Clinical Study of Pegylated Somatropin (PEG Somatropin) to Treat Growth Hormone Deficiency Children	Unknown status	NCT02314676	Phase 4
4	Effects of Sandostatin LAR® in Acromegaly	Unknown status	NCT01424241	Phase 4	Sandostatin LAR
5	Growth Hormone Feedback to Insulin-like Growth Factor-I (IGF-1) and Oral Glucose Tolerance Test (OGTT)	Unknown status	NCT00915954	Phase 4
6	Changes of Left Ventricular Mass and Cardiac Function in Patients With Active Acromegaly During Treatment With the Growth Hormone Receptor Antagonist Pegvisomant	Unknown status	NCT00552851	Phase 4	pegvisomant
7	Reversal of Antipsychotic-Induced Hyperprolactinemia, Weight Gain, Hyperglycemia and Dyslipidemia	Unknown status	NCT00541554	Phase 4	Abilify (aripiprazole)
8	Analgesia Regimens Following Trans-sphenoidal Surgery for Pituitary Tumors	Completed	NCT02351700	Phase 4	IV Caldolor (IV Ibuprofen);IV Ibuprofen placebo
9	Evaluation of Efficacy and Hypothalamus-pituitary-adrenal Axis Suppression Due to Corticosteroids Intrabursal Injection	Completed	NCT01652495	Phase 4	methylprednisolone acetate;Triamcinolone Acetonide
10	Predictive Markers in Chinese Growth Hormone Deficiency (GHD) Children Treated With Saizen®	Completed	NCT01187550	Phase 4	Recombinant human growth hormone (r-hGH)
11	Adipokine Profile in Patients With Cushing's Disease on Pasireotide Treatment	Completed	NCT03080181	Phase 4	Pasireotide 0.6 MG/ML
12	Aripiprazole and Prolactin Study	Completed	NCT01085383	Phase 4	Aripiprazole
13	Surgical Debulking of Pituitary Adenomas	Completed	NCT01371643	Phase 4	Octreotide LAR
14	A Post-Marketing Study of the Immunogenicity of Somatropin (Ribosomal Deoxyribo Nucleic Acid [rDNA] Origin) Injection (Nutropin AQ®) in Children With Growth Hormone Deficiency	Completed	NCT02311894	Phase 4	Somatropin
15	Determination of Method-specific Normal Cortisol and Adrenal Hormone Responses to the Short Synacthen Test	Completed	NCT00851942	Phase 4	Synacthen (Tetracosactrin)
16	Endometriosis Patients Undergoing Quinagolide Treatment	Completed	NCT00625950	Phase 4
17	GH and Cardiovascular Risk Factors	Completed	NCT01877512	Phase 4	Change in daily dosage of Growth Hormone
18	Treatment of Acromegaly With Somatostatin Analogs: GH vs. IGF-I as Primary Biochemical Target	Completed	NCT01618513	Phase 4	Sandostatin® LAR
19	An Open-label Phase 4 Study to Explore Immunogenicity of the Liquid Formulation of Saizen® in Subjects With Adult Growth Hormone Deficiency (AGHD)	Completed	NCT01806298	Phase 4	Saizen® solution for injection (referred as Saizen®)
20	Safety and Efficacy of SR-hGH (Sustained-release Human Growth Hormone, Declage Inj.)	Completed	NCT01605331	Phase 4	sustained-release recombinant human GH (SR-rhGH)
21	Effect of Somatropin on Left Ventricular Mass in Growth Hormone Deficient Adult Patients	Completed	NCT01562834	Phase 4	somatropin;placebo
22	Study to Evaluate the Efficacy and Safety of Sandostatin LAR at High Dose or in Combination Either With GH-receptor Antagonist or Dopamine-agonist in Acromegalic Patients	Completed	NCT01278342	Phase 4	Sandostatin LAR;pegvisomant;cabergoline
23	First Year Growth Response Associated Genetic Markers Validation Phase IV Open-label Study in Growth Hormone Deficient and Turner Syndrome Pre-pubertal Children: the PREDICT Pharmacogenetics Validation Study	Completed	NCT01419249	Phase 4
24	Is There a Sensibility Increased in the Growth Hormone at Child With Prader-Willi Syndrome?	Completed	NCT01298180	Phase 4	Growth hormone (Genotonorm® or Omnitrope®)
25	Norditropin NordiFlex® Device Compared to the Device Previously Used by Patients or Parents	Completed	NCT01245374	Phase 4
26	A Multicentre, Randomised, Open-label, Controlled Study to Evaluate the Effects of Saizen® on Cardiac Function in Growth Hormone Deficient(GHD) Subjects During the Transition Phase From Childhood to Adulthood	Completed	NCT01157793	Phase 4	r-hGH;r-hGH
27	Anterior Pituitary Hormone Replacement in Traumatic Brain Injury	Completed	NCT00957671	Phase 4	Recombinant human growth hormone
28	Comparison of a Needle-free Injection Method With a Needle-syringe Injection Method	Completed	NCT00990340	Phase 4
29	Growth Hormone and Glucose Metabolism	Completed	NCT00929799	Phase 4	recombinant human Growth Hormone (Genotropin® )
30	Study to Assess the Efficacy of an Extended Injection Interval Schedule of Lanreotide Autogel in Acromegalic Subjects	Completed	NCT00701363	Phase 4	Lanreotide Autogel 120 mg
31	Change in Quality of Life After Addition of Weekly 40 mg Pegvisomant/Placebo in Controlled Acromegalic Patients	Completed	NCT00642720	Phase 4	Pegvisomant
32	Lanreotide Autogel-120 mg as First-Line Treatment of Acromegaly	Completed	NCT00627796	Phase 4	Lanreotide-Autogel 120 mg
33	Acute Application of Pegvisomant and Octreotide in Acromegaly	Completed	NCT00595140	Phase 4	pegvisomant;combination with somatostatin analogue octreotide;combination with dopamine agonist cabergoline
34	Preoperative Octreotide Treatment of Acromegaly	Completed	NCT00521300	Phase 4	Octreotide
35	Easypod United States User Trial	Completed	NCT00689260	Phase 4
36	Dose Escalation of Octreotide-LAR as First-Line Therapy in Resistant Acromegaly	Completed	NCT00461149	Phase 4	Octreotide-LAR
37	Liquid Somatropin Formulation in Children With Growth Hormone Deficiency	Completed	NCT00567385	Phase 4	somatropin
38	Efficacy of Octreotide Acetate and Cabergoline in Patients With Acromegaly	Completed	NCT00376064	Phase 4	Octreotide acetate and cabergoline/Octrotide and Somavert
39	Comparison of Two Growth Hormone Dosing Methods in Adults With Growth Hormone Deficiency	Completed	NCT00490191	Phase 4	Somatropin
40	Growth Hormone and Endothelial Function in Children	Completed	NCT00373386	Phase 4	growth hormone
41	Lanreotide Autogel in Patients With Acromegaly Previously Treated With Octreotide LAR	Completed	NCT00216398	Phase 4	Lanreotide (Autogel formulation)
42	Octreotide Efficacy and Safety in First-line Acromegalic Patients	Completed	NCT00171886	Phase 4	Octreotide
43	Canadian Pegvisomant Compassionate Study In Acromegalic Patients	Completed	NCT00151437	Phase 4	Pegvisomant treatment
44	Somatuline Autogel: Acromegaly Self/Partner Injection Study	Completed	NCT00149188	Phase 4	Lanreotide (Autogel formulation)
45	Phase 4 Study in Secondary Hypothyroidism: Body Weight Adapted Thyroxin Treatment and Triiodothyronine Supplementation	Completed	NCT00360074	Phase 4	Thyroxin, Triiodothyronine
46	Comparable Effects of Lanreotide Autogel and Octreotide LAR on GH, IGF-I Levels and Patient Satisfaction	Completed	NCT00145405	Phase 4	Lanreotide Autogel and Octreotide LAR
47	Predictive Markers in Growth Hormone Deficiency (GHD) and Turner Syndrome (TS) Children Treated With SAIZEN®	Completed	NCT00256126	Phase 4	Saizen;Saizen
48	A Study to Optimize Growth Hormone Dosing in Children With Chronic Kidney Disease by Measuring IGF-1 Levels in Blood	Completed	NCT00212758	Phase 4	Nutropin AQ
49	IGF1 Generation Test	Completed	NCT00145457	Phase 4
50	Endocrine Dysfunction and Growth Hormone Deficiency in Children With Optic Nerve Hypoplasia	Completed	NCT00140413	Phase 4	Nutropin AQ

Search NIH Clinical Center for Hypothalamic Disease

Cochrane evidence based reviews: hypothalamic diseases

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Genetic Tests for Hypothalamic Disease

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Anatomical Context for Hypothalamic Disease

MalaCards organs/tissues related to Hypothalamic Disease:

⁴¹

Pituitary, Testes, Brain, Bone, Hypothalamus, Heart, Liver

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Publications for Hypothalamic Disease

Articles related to Hypothalamic Disease:

(show top 50) (show all 60)

#	Title	Authors	Year
1	Hypothalamic Dysfunction in Obesity and Metabolic Disorders. ( 28933062 )	Carmo-Silva S....Cavadas C.	2017
2	Case of Werner syndrome complicated by adrenal insufficiency due to hypothalamic dysfunction. ( 28240455 )	Ide K....Yokote K.	2017
3	Psychiatric Symptoms in Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Syndrome and its Treatment: A Case Report. ( 26830999 )	Erensoy H....Evrensel A.	2016
4	Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome and celiac disease in a 13-year-old girl: further evidence for autoimmunity? ( 26352082 )	Cemeroglu A.P....Kleis L.	2016
5	Hypoventilation improvement in an adult non-invasively ventilated patient with Rapid-onset Obesity with Hypothalamic Dysfunction Hypoventilation and Autonomic Dysregulation (ROHHAD). ( 29543408 )	Graziani A....Giuseppe Stefanini F.	2016
6	Chordoid glioma: A new paradigm of hypothalamic dysfunction? ( 27798757 )	Castro-Dufourny I....Pascual J.M.	2016
7	Rapid-onset obesity, hypoventilation, hypothalamic dysfunction, autonomic dysregulation syndrome. ( 26229761 )	Maksoud I....Kassab L.	2015
8	Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD): Response to ventilatory challenges. ( 25776886 )	Carroll M.S....Weese-Mayer D.E.	2015
9	Preliminary results on CSF biomarkers for hypothalamic dysfunction in Kleine-Levin syndrome. ( 25454350 )	Lopez R....Dauvilliers Y.	2015
10	Rapid-Onset Obesity With Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) Syndrome May Have a Hypothalamus-Periaqueductal Gray Localization. ( 25746964 )	Chow C....Thomas T.	2015
11	Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours. ( 26302956 )	Barclay S.F....Bech-Hansen N.T.	2015
12	Implications of mitochondrial dynamics on neurodegeneration and on hypothalamic dysfunction. ( 26113818 )	Zorzano A....Claret M.	2015
13	Pituitary and/or hypothalamic dysfunction following moderate to severe traumatic brain injury: Current perspectives. ( 26693424 )	Javed Z....Sathyapalan T.	2015
14	Gut-Brain: Major Depressive Disorder, Hypothalamic Dysfunction, and High Calcium Score Associated With Leaky Gut. ( 26348609 )	Dach J.	2015
15	Severe phenotype of rapid-onset obesity, hypoventilation, hypothalamic dysfunction, and autonomic dysfunction syndrome. ( 24492667 )	Rossetti E....Picardo S.	2014
16	Intrathecal synthesis of oligoclonal bands in rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome: new evidence supporting immunological pathogenesis. ( 23292759 )	Sartori S....Toldo I.	2014
17	Transgenic mice overexpressing amyloid precursor protein exhibit early metabolic deficits and a pathologically low leptin state associated with hypothalamic dysfunction in arcuate neuropeptide Y neurons. ( 24990930 )	Ishii M....Iadecola C.	2014
18	Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation: review and update. ( 24914877 )	Patwari P.P....Wolfe L.F.	2014
19	Hypothalamic Dysfunction of the Thrombospondin Receptor I+2I'-1 Underlies the Overeating and Obesity Triggered by Brain-Derived Neurotrophic Factor Deficiency. ( 24403154 )	Cordeira J.W....Rios M.	2014
20	Hypothalamic Dysfunction Without Hamartomas Causing Gelastic Seizures in Optic Nerve Hypoplasia. ( 24700666 )	Fink C....Saper C.	2014
21	Reversible hypothalamic dysfunction in optic nerve germinoma. ( 23524717 )	Chen C.H....Cho D.Y.	2013
22	A case of rapid-onset obesity with hypothalamic dysfunction, hypoventilation, autonomic dysregulation, and neural crest tumor: ROHHADNET syndrome. ( 23186956 )	Abaci A....Bober E.	2013
23	Commentary: Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): Remember Your ABCs (Airway, Breathing, Circulation). ( 23970914 )	Weese-Mayer D.E....Ize-Ludlow D.	2013
24	Comparison of body composition, basal metabolic rate and metabolic outcomes of adults with Prader Willi syndrome or lesional hypothalamic disease, with primary obesity. ( 23318724 )	Lloret-Linares C....Poitou C.	2013
25	Systemic effects of hypothermia due to hypothalamic dysfunction after resection of a craniopharyngioma: case report and review of literature. ( 23047234 )	de Vetten L....Bocca G.	2013
26	Nocturnal Anxiety in a Youth with Rapid-onset Obesity, Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD). ( 23970913 )	Grudnikoff E....Theodosiadis E.	2013
27	Anesthetic considerations for rapid-onset obesity, hypoventilation, hypothalamic dysfunction, and autonomic dysfunction (ROHHAD) syndrome in children. ( 22862685 )	Chandrakantan A....Poulton T.J.	2013
28	Noninvasive ventilation in a child with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD). ( 23059524 )	Luccoli L....Gregoretti C.	2012
29	Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD): a case with additional features and review of the literature. ( 22715259 )	Chew H.B....Keng W.T.	2011
30	Hypothalamic dysfunction in a female with isolated hypogonadotropic hypogonadism and compound heterozygous TACR3 mutations and clinical manifestation in her heterozygous mother. ( 20395662 )	Fukami M....Ogata T.	2010
31	Hypogonadism in females with Prader-Willi syndrome from infancy to adulthood: variable combinations of a primary gonadal defect and hypothalamic dysfunction. ( 19946044 )	Eldar-Geva T....Gross-Tsur V.	2010
32	A case of late-onset central hypoventilation syndrome with hypothalamic dysfunction: through a new phenotype. ( 20560260 )	Onal H....Ersen A.	2010
33	Trilateral retinoblastoma with pituitary-hypothalamic dysfunction. ( 18766991 )	Dai S....Chan H.S.	2008
34	Delineation of late onset hypoventilation associated with hypothalamic dysfunction syndrome. ( 18670370 )	de Pontual L....Amiel J.	2008
35	Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood. ( 17606542 )	Ize-Ludlow D....Weese-Mayer D.E.	2007
36	Serum leptin and leptin binding activity in children and adolescents with hypothalamic dysfunction. ( 12199340 )	Patel L....Clayton P.E.	2002
37	Idiopathic hypothalamic dysfunction with precocious puberty and adipsic hypernatremia first presenting in adolescence. ( 11592577 )	Cauble M.S....Larsen J.L.	2001
38	Chronic hypernatremia derived from hypothalamic dysfunction: impaired secretion of arginine vasopressin and enhanced renal water handling. ( 11456273 )	Fukagawa A....Saito T.	2001
39	Hypothalamic dysfunction with polydactyly and hypoplastic nails. ( 10522347 )	Schaefer G.B....Olney A.H.	1999
40	Hypothalamic dysfunction in &quot;cured&quot; acromegaly is treatment modality dependent. ( 9589676 )	Peacey S.R....Shalet S.M.	1998
41	Hypothalamic dysfunction in acute head-injured patients with stress ulcer. ( 9796199 )	Hwang S.L....Huang T.J.	1998
42	Hypothalamic disease: neurosecretory dysfunction and parasellar lesions. ( 9174692 )	Bercu B.B.	1997
43	Isolated combined growth hormone and gonadotrophin deficiency due to hypothalamic dysfunction, associated with insulin resistance. ( 7554320 )	Mantzoros C.S....Moses A.C.	1995
44	Hypothalamic dysfunction in Parkinson's disease patients. ( 7638039 )	Otake K....Adachi K.	1994
45	Amenorrhea in anorexia nervosa. Neuroendocrine control of hypothalamic dysfunction. ( 7920581 )	Golden N.H....Shenker I.R.	1994
46	Neurologic manifestations of hypothalamic disease. ( 1480755 )	Martin J.B....Riskind P.N.	1992
47	Hypothalamic disease in association with dysgenesis of the corpus callosum. ( 2813236 )	Page S.R....Johnson D.A.	1989
48	Septic shock with hyperglycemia induced by hypothalamic dysfunction after removal of large parasagittal meningioma. ( 3419486 )	Kuchiwaki H....Sugiura M.	1988
49	Episodic hormone secretion during sleep in Kleine-Levin syndrome: evidence for hypothalamic dysfunction. ( 3477962 )	Gadoth N....Lavie P.	1987
50	Hypothalamic disease presenting as amenorrhoea: value of computed tomography. ( 4084469 )	Ferrari C....Crosignani P.G.	1985

Sources

Genes for Hypothalamic Disease

Genes related to Hypothalamic Disease (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CRH	Corticotropin Releasing Hormone	Protein Coding	22.62	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : DISEASES inferred (show sections)	8393256 7805653 2169450
2	PRL	Prolactin	Protein Coding	22.48	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : DISEASES inferred (show sections)	8530591 2174755 7669403 (more) 1846002
3	GNRH1	Gonadotropin Releasing Hormone 1	Protein Coding	20.95	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : DISEASES inferred (show sections)	9758439 7921222 2132474
4	GH1	Growth Hormone 1	Protein Coding	16.76	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	9828916
5	POMC	Proopiomelanocortin	Protein Coding	16.02	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	GHRH	Growth Hormone Releasing Hormone	Protein Coding	15.85	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)

Sources

Variations for Hypothalamic Disease

Sources

Expression for Hypothalamic Disease

Search GEO for disease gene expression data for Hypothalamic Disease.

Sources

Pathways for Hypothalamic Disease

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

#	Super pathways	Score	Top Affiliating Genes
1	TGF-Beta Pathway ⁶⁴ Show member pathways JAK-STAT Pathway ⁶⁴ JNK Pathway ⁶⁴ MAPK Family Pathway ⁶⁴ Regulation of eIF4 and p70S6K ⁶⁴ SOCS Pathway ⁶⁴	12.97	GH1 GHRH GNRH1 PRL
2	G-Beta Gamma Signaling ⁶⁴ Show member pathways CRHR Pathway ⁶⁴ GHRH Signaling ⁶⁴ Hedgehog Signaling in Mammals ⁶⁴ Relaxin Pathway ⁶⁴ Signaling in Gap Junctions ⁶⁴	12.43	CRH GH1 GHRH POMC
3	Peptide ligand-binding receptors ⁶⁶ Show member pathways Class A/1 (Rhodopsin-like receptors) ⁶⁶ Defective AVP causes neurohypophyseal diabetes insipidus (NDI) ⁶⁶ Formyl peptide receptors bind formyl peptides and many other ligands ⁶⁶ G alpha (i) signalling events ⁶⁶ GPCR ligand binding ⁶⁶ GPCRs, Class A Rhodopsin-like ¹ Neuroactive ligand-receptor interaction ³⁷ Orexin and neuropeptides FF and QRFP bind to their respective receptors ⁶⁶ Peptide GPCRs ¹ Tachykinin receptors bind tachykinins ⁶⁶ Vasopressin-like receptors ⁶⁶	12.37	CRH GH1 GHRH GNRH1 POMC PRL
4	NF-KappaB Family Pathway ⁶⁴ Show member pathways NF-KappaB (p50-p65) Pathway ⁶⁴	12.2	GH1 GHRH GNRH1
5	Immune response IFN gamma signaling pathway ²² Show member pathways IFN-gamma pathway ¹	11.56	GH1 GHRH GNRH1
6	G alpha (s) signalling events ⁶⁶	11.5	CRH GHRH POMC
7	Corticotropin-releasing hormone signaling pathway ¹	11.45	CRH POMC
8	Glucocorticoid receptor regulatory network ¹	11.37	POMC PRL
9	Growth hormone receptor signaling ⁶⁶ Show member pathways Prolactin receptor signaling ⁶⁶	10.93	GH1 PRL
10	Glucocorticoid Pathway (HPA Axis), Pharmacodynamics ⁶¹	9.8	CRH POMC

Sources

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 region	GO:0005576	9.43	CRH GH1 GHRH GNRH1 POMC PRL
2	endosome lumen	GO:0031904	9.16	GH1 PRL
3	extracellular space	GO:0005615	9.1	CRH GH1 GHRH GNRH1 POMC PRL

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

#	Name	GO ID	Score	Top Affiliating Genes
1	G-protein coupled receptor signaling pathway	GO:0007186	9.73	CRH GHRH GNRH1 POMC
2	positive regulation of cell proliferation	GO:0008284	9.65	CRH GHRH PRL
3	cell-cell signaling	GO:0007267	9.58	GHRH GNRH1 POMC
4	response to nutrient levels	GO:0031667	9.46	GH1 PRL
5	positive regulation of multicellular organism growth	GO:0040018	9.37	GH1 GHRH
6	positive regulation of JAK-STAT cascade	GO:0046427	9.32	GH1 PRL
7	JAK-STAT cascade involved in growth hormone signaling pathway	GO:0060397	9.26	GH1 PRL
8	positive regulation of insulin-like growth factor receptor signaling pathway	GO:0043568	9.16	GH1 GHRH
9	female pregnancy	GO:0007565	9.13	CRH GNRH1 PRL
10	regulation of signaling receptor activity	GO:0010469	9.02	GH1 GHRH GNRH1 POMC PRL

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

#	Name	GO ID	Score	Top Affiliating Genes
1	neuropeptide hormone activity	GO:0005184	9.16	CRH POMC
2	hormone activity	GO:0005179	9.02	CRH GH1 GNRH1 POMC PRL
3	prolactin receptor binding	GO:0005148	8.96	GH1 PRL

Sources

Sources for Hypothalamic Disease

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia