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

MCID: HYP085 MIFTS: 47	Hypothalamic Disease Categories: Endocrine diseases, Neuronal diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Drugs Expand all tables

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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 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 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 mccune-albright syndrome and precocious puberty. An important gene associated with Hypothalamic Disease is CRH (Corticotropin Releasing Hormone), and among its related pathways/superpathways are G-Beta Gamma Signaling and Peptide ligand-binding receptors. The drugs Hydrocortisone and Dexmedetomidine have been mentioned in the context of this disorder. Affiliated tissues include pituitary, brain and hypothalamus, 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 146)

#	Related Disease	Score	Top Affiliating Genes
1	mccune-albright syndrome	29.6	GH1 PRL
2	precocious puberty	29.5	GH1 GNRH1
3	diabetes insipidus	29.5	CRH POMC PRL
4	amenorrhea	29.4	CRH GNRH1 POMC PRL
5	craniopharyngioma	29.3	GH1 GNRH1 PRL
6	major depressive disorder	29.3	CRH POMC PRL
7	hypothyroidism	29.2	GH1 POMC PRL
8	anorexia nervosa	29.1	CRH GH1 GHRH POMC PRL
9	prader-willi syndrome	29.0	GH1 GNRH1 POMC
10	conn's syndrome	28.9	CRH GH1 POMC PRL
11	hyperprolactinemia	28.9	GH1 GNRH1 POMC PRL
12	acromegaly	28.8	GH1 GHRH POMC PRL
13	rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome	12.5
14	rohhad	12.1
15	shapiro syndrome	11.2
16	fryns microphthalmia syndrome	11.1
17	froelich syndrome	10.9
18	hypothalamic adipsic hypernatraemia syndrome	10.4
19	melancholia	10.1	CRH PRL
20	spinocerebellar degeneration	10.1	CRH PRL
21	fibromyalgia	10.1	CRH PRL
22	postpartum depression	10.1	CRH PRL
23	hypogonadotropism	10.1	GNRH1 PRL
24	pelvic varices	10.1	GNRH1 PRL
25	fibrous dysplasia	10.1	GH1 PRL
26	fibrous dysplasia/mccune-albright syndrome	10.1	GH1 PRL
27	pseudohypoparathyroidism, type ia	10.1	GH1 PRL
28	anovulation	10.0	GNRH1 PRL
29	adenomyosis	10.0	GNRH1 PRL
30	endogenous depression	10.0	CRH GNRH1
31	tetrahydrobiopterin deficiency	10.0	GH1 PRL
32	pituitary adenoma 1, multiple types	10.0	GH1 PRL
33	varicocele	10.0	GNRH1 PRL
34	pituitary stalk interruption syndrome	10.0	GH1 PRL
35	isolated growth hormone deficiency, type ib	10.0	GH1 GHRH
36	isolated growth hormone deficiency	10.0	GH1 GHRH
37	growth hormone deficiency	10.0	GH1 GHRH
38	aromatase deficiency	10.0	GH1 GNRH1
39	isolated growth hormone deficiency, type ii	10.0	GH1 GHRH
40	gangliocytoma	10.0	CRH POMC
41	acth deficiency, isolated	10.0	CRH POMC
42	fasting hypoglycemia	10.0	CRH POMC
43	female reproductive system disease	10.0	GNRH1 PRL
44	adrenal cortical hypofunction	10.0	CRH POMC
45	withdrawal disorder	10.0	CRH POMC
46	reproductive system disease	10.0	GNRH1 PRL
47	ectopic cushing syndrome	10.0	CRH POMC
48	persistent fetal circulation syndrome	10.0	CRH POMC
49	dwarfism	10.0	GH1 GHRH
50	abducens nerve disease	10.0	POMC PRL

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 327)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Hydrocortisone

Approved, Vet_approved

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

50-23-7

5754

Dexmedetomidine

Approved, Vet_approved

Phase 4

113775-47-6

68602 5311068

Hydrocortisone acetate

Approved, Vet_approved

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

50-03-3

Prednisone

Approved, Vet_approved

Phase 4

53-03-2

5865

Aripiprazole

Approved, Investigational

Phase 4,Not Applicable

129722-12-9

60795

Dopamine

Approved

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

51-61-6, 62-31-7

681

Risperidone

Approved, Investigational

Phase 4,Phase 3,Not Applicable

106266-06-2

5073

Pasireotide

Approved

Phase 4,Phase 3,Phase 2,Phase 1

396091-73-9

9941444

lanreotide

Approved

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

108736-35-2

Octreotide

Approved, Investigational

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

83150-76-9

383414 6400441

Somatostatin

Approved, Investigational

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

51110-01-1, 38916-34-6

53481605

Mecasermin

Approved, Investigational

Phase 4,Phase 3,Not Applicable

68562-41-4

Racepinephrine

Approved

Phase 4,Not Applicable

329-65-7

838

Epinephrine

Approved, Vet_approved

Phase 4,Not Applicable

51-43-4

5816

Zinc

Approved, Investigational

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

7440-66-6

Cabergoline

Approved

Phase 4,Phase 3,Phase 2,Not Applicable

81409-90-7

54746

Estradiol

Approved, Investigational, Vet_approved

Phase 4,Phase 3,Phase 2,Not Applicable

50-28-2

5757

Polyestradiol phosphate

Approved

Phase 4,Phase 3,Phase 2,Not Applicable

28014-46-2

Estradiol valerate

Approved, Investigational, Vet_approved

Phase 4,Phase 3,Phase 2,Not Applicable

979-32-8

Oxycodone

Approved, Illicit, Investigational

Phase 4

76-42-6

5284603

Ibuprofen

Approved

Phase 4

15687-27-1

3672

Morphine

Approved, Investigational

Phase 4

57-27-2

5288826

Hydromorphone

Approved, Illicit

Phase 4

466-99-9

5284570

Acetaminophen

Approved

Phase 4

103-90-2

1983

Methylprednisolone hemisuccinate

Approved

Phase 4,Phase 2

2921-57-5

Methylprednisolone

Approved, Vet_approved

Phase 4,Phase 2

83-43-2

6741

Prednisolone phosphate

Approved, Vet_approved

Phase 4,Phase 2

302-25-0

Triamcinolone

Approved, Vet_approved

Phase 4

124-94-7

31307

Prednisolone

Approved, Vet_approved

Phase 4,Phase 2

50-24-8

5755

Cosyntropin

Approved

Phase 4

16960-16-0

16129617

Metformin

Approved

Phase 4,Phase 2

657-24-9

14219 4091

Liraglutide

Approved

Phase 4

204656-20-2

44147092

Quinagolide

Approved, Investigational

Phase 4

97805-50-0, 87056-78-8

105105

Clindamycin

Approved, Vet_approved

Phase 4

18323-44-9

29029

Cefdinir

Approved

Phase 4

91832-40-5

6915944

leucovorin

Approved

Phase 4,Phase 1

58-05-9

6006 143

Trimethoprim

Approved, Vet_approved

Phase 4

738-70-5

5578

Cefuroxime

Approved

Phase 4

55268-75-2

5361202 5479529

Cefazolin

Approved

Phase 4

25953-19-9

656510 33255

Sulfamethoxazole

Approved

Phase 4

723-46-6

5329

Folic Acid

Approved, Nutraceutical, Vet_approved

Phase 4,Phase 2,Phase 1

59-30-3

6037

Prednisolone hemisuccinate

Experimental

Phase 4,Phase 2

2920-86-7

Lactitol

Investigational

Phase 4,Phase 3,Phase 1

585-86-4

3871

Neurotransmitter Agents

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

Adrenergic alpha-Agonists

Phase 4,Phase 3,Not Applicable

Peripheral Nervous System Agents

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

Hydrocortisone-17-butyrate

Phase 4,Not Applicable,Early Phase 1

Pharmaceutical Solutions

Phase 4,Phase 2,Phase 3,Not Applicable

Adrenergic Agents

Phase 4,Phase 3,Phase 2,Not Applicable

Hypnotics and Sedatives

Phase 4,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 579)

#	Name	Status	NCT ID	Phase	Drugs
1	Effect of Dexmedetomidine on Plasmatic Cortisol Response in Transsphenoidal Surgery	Unknown status	NCT02549768	Phase 4	Dexmedetomidine;Sodium Chloride 0.9%
2	Effect of Perioperative Glucocorticoid Replacement on Prognosis of Surgical Patients With Sellar Lesions	Unknown status	NCT02190994	Phase 4	Hydrocortisone;Prednisone
3	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
4	Pasireotide LAR and Pegvisomant Study in Acromegaly	Unknown status	NCT02668172	Phase 4	Pasireotide LAR 60 mg;Pegvisomant
5	Pegylated Somatropin (PEG Somatropin) in the Treatment of Children With Growth Hormone Deficiency	Unknown status	NCT02976675	Phase 4
6	Clinical Study of Pegylated Somatropin to Treat Children Growth Hormone Deficiency	Unknown status	NCT02908958	Phase 4
7	Phase IV Clinical Study of Pegylated Somatropin (PEG Somatropin) to Treat Growth Hormone Deficiency Children	Unknown status	NCT02314676	Phase 4
8	Effects of Sandostatin LAR® in Acromegaly	Unknown status	NCT01424241	Phase 4	Sandostatin LAR
9	Growth Hormone Feedback to Insulin-like Growth Factor-I (IGF-1) and Oral Glucose Tolerance Test (OGTT)	Unknown status	NCT00915954	Phase 4
10	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
11	Reversal of Antipsychotic-Induced Hyperprolactinemia, Weight Gain, Hyperglycemia and Dyslipidemia	Unknown status	NCT00541554	Phase 4	Abilify (aripiprazole)
12	Analgesia Regimens Following Trans-sphenoidal Surgery for Pituitary Tumors	Completed	NCT02351700	Phase 4	IV Caldolor (IV Ibuprofen);IV Ibuprofen placebo
13	Evaluation of Efficacy and Hypothalamus-pituitary-adrenal Axis Suppression Due to Corticosteroids Intrabursal Injection	Completed	NCT01652495	Phase 4	methylprednisolone acetate;Triamcinolone Acetonide
14	Predictive Markers in Chinese Growth Hormone Deficiency (GHD) Children Treated With Saizen®	Completed	NCT01187550	Phase 4	Recombinant human growth hormone (r-hGH)
15	Adipokine Profile in Patients With Cushing's Disease on Pasireotide Treatment	Completed	NCT03080181	Phase 4	Pasireotide 0.6 MG/ML
16	Aripiprazole and Prolactin Study	Completed	NCT01085383	Phase 4	Aripiprazole
17	Evaluation of the Ease of Use, Preference, and Safety of EutropinPen Inj.	Completed	NCT03015909	Phase 4	Somatropin
18	Surgical Debulking of Pituitary Adenomas	Completed	NCT01371643	Phase 4	Octreotide LAR
19	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
20	Determination of Method-specific Normal Cortisol and Adrenal Hormone Responses to the Short Synacthen Test	Completed	NCT00851942	Phase 4	Synacthen (Tetracosactrin)
21	Study of Management of Pasireotide-induced Hyperglycemia in Adult Patients With Cushing's Disease or Acromegaly	Completed	NCT02060383	Phase 4	Pasireotide s.c.;Sitagliptin;Liraglutide;Insulin;Pasireotide LAR;Metformin
22	Endometriosis Patients Undergoing Quinagolide Treatment	Completed	NCT00625950	Phase 4
23	GH and Cardiovascular Risk Factors	Completed	NCT01877512	Phase 4	Change in daily dosage of Growth Hormone
24	Treatment of Acromegaly With Somatostatin Analogs: GH vs. IGF-I as Primary Biochemical Target	Completed	NCT01618513	Phase 4	Sandostatin® LAR
25	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®)
26	Safety and Efficacy of SR-hGH (Sustained-release Human Growth Hormone, Declage Inj.)	Completed	NCT01605331	Phase 4	sustained-release recombinant human GH (SR-rhGH)
27	Effect of Somatropin on Left Ventricular Mass in Growth Hormone Deficient Adult Patients	Completed	NCT01562834	Phase 4	somatropin;placebo
28	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
29	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
30	Is There a Sensibility Increased in the Growth Hormone at Child With Prader-Willi Syndrome?	Completed	NCT01298180	Phase 4	Growth hormone (Genotonorm® or Omnitrope®)
31	Norditropin NordiFlex® Device Compared to the Device Previously Used by Patients or Parents	Completed	NCT01245374	Phase 4
32	Anterior Pituitary Hormone Replacement in Traumatic Brain Injury	Completed	NCT00957671	Phase 4	Recombinant human growth hormone
33	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
34	Comparison of a Needle-free Injection Method With a Needle-syringe Injection Method	Completed	NCT00990340	Phase 4
35	Growth Hormone and Glucose Metabolism	Completed	NCT00929799	Phase 4	recombinant human Growth Hormone (Genotropin® )
36	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
37	Change in Quality of Life After Addition of Weekly 40 mg Pegvisomant/Placebo in Controlled Acromegalic Patients	Completed	NCT00642720	Phase 4	Pegvisomant
38	Lanreotide Autogel-120 mg as First-Line Treatment of Acromegaly	Completed	NCT00627796	Phase 4	Lanreotide-Autogel 120 mg
39	Acute Application of Pegvisomant and Octreotide in Acromegaly	Completed	NCT00595140	Phase 4	pegvisomant;combination with somatostatin analogue octreotide;combination with dopamine agonist cabergoline
40	Ultrasound Guided Octreotide LAR Injection in Acromegaly	Completed	NCT00552071	Phase 4	Octreotide LAR 30 MG Injection
41	Preoperative Octreotide Treatment of Acromegaly	Completed	NCT00521300	Phase 4	Octreotide
42	Easypod United States User Trial	Completed	NCT00689260	Phase 4
43	Dose Escalation of Octreotide-LAR as First-Line Therapy in Resistant Acromegaly	Completed	NCT00461149	Phase 4	Octreotide-LAR
44	Liquid Somatropin Formulation in Children With Growth Hormone Deficiency	Completed	NCT00567385	Phase 4	somatropin
45	Efficacy of Octreotide Acetate and Cabergoline in Patients With Acromegaly	Completed	NCT00376064	Phase 4	Octreotide acetate and cabergoline/Octrotide and Somavert
46	Comparison of Two Growth Hormone Dosing Methods in Adults With Growth Hormone Deficiency	Completed	NCT00490191	Phase 4	Somatropin
47	Growth Hormone and Endothelial Function in Children	Completed	NCT00373386	Phase 4	growth hormone
48	Lanreotide Autogel in Patients With Acromegaly Previously Treated With Octreotide LAR	Completed	NCT00216398	Phase 4	Lanreotide (Autogel formulation)
49	Octreotide Efficacy and Safety in First-line Acromegalic Patients	Completed	NCT00171886	Phase 4	Octreotide
50	Canadian Pegvisomant Compassionate Study In Acromegalic Patients	Completed	NCT00151437	Phase 4	Pegvisomant treatment

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, Brain, Hypothalamus, Bone, Ovary, Thyroid, Cortex

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Publications for Hypothalamic Disease

Articles related to Hypothalamic Disease:

(show top 50) (show all 132)

#	Title	Authors	Year
1	Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation associated with neuroblastoma. ( 29380520 )	Lim SH...Kang MH	2018
2	Perioperative anesthetic management of children with congenital central hypoventilation syndrome and rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation undergoing thoracoscopic phrenic nerve-diaphragm pacemaker implantation. ( 30251310 )	Ballard HA...Jagannathan N	2018
3	Hypothalamic dysfunction in heart failure: pathogenetic mechanisms and therapeutic implications. ( 29052045 )	Rigas A...Parissis J	2018
4	Hypothalamitis and severe hypothalamic dysfunction associated with anti-programmed cell death ligand 1 antibody treatment. ( 30377030 )	Tshuma N...Drake WM	2018
5	Hypothalamic Dysfunction in Obesity and Metabolic Disorders. ( 28933062 )	Carmo-Silva S....Cavadas C.	2017
6	Case of Werner syndrome complicated by adrenal insufficiency due to hypothalamic dysfunction. ( 28240455 )		2017
7	Hypothalamic dysfunction is related to sleep impairment and CSF biomarkers in Alzheimer's disease. ( 28900724 )	Liguori C...Fabio P	2017
8	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
9	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 )		2016
10	Hypoventilation improvement in an adult non-invasively ventilated patient with Rapid-onset Obesity with Hypothalamic Dysfunction Hypoventilation and Autonomic Dysregulation (ROHHAD). ( 29543408 )		2016
11	Chordoid glioma: A new paradigm of hypothalamic dysfunction? ( 27798757 )		2016
12	Rapid-onset obesity, hypoventilation, hypothalamic dysfunction, autonomic dysregulation and neuroendocrine tumor syndrome with a homogenous enlargement of the pituitary gland: a case report. ( 27876089 )	Aljabban L...Maksoud I	2016
13	Bardoxolone methyl prevents obesity and hypothalamic dysfunction. ( 27417254 )	Camer D...Huang XF	2016
14	Hypothalamic Dysfunction and Multiple Sclerosis: Implications for Fatigue and Weight Dysregulation. ( 27662896 )	Burfeind KG...Marks DL	2016
15	Rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation in Saudi Arabia. ( 27761566 )	Al-Harbi AS...Al-Shawwa BA	2016
16	Rapid-onset obesity, hypoventilation, hypothalamic dysfunction, autonomic dysregulation syndrome. ( 26229761 )	Maksoud I....Kassab L.	2015
17	Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD): Response to ventilatory challenges. ( 25776886 )	Carroll M.S....Weese-Mayer D.E.	2015
18	Preliminary results on CSF biomarkers for hypothalamic dysfunction in Kleine-Levin syndrome. ( 25454350 )	Lopez R....Dauvilliers Y.	2015
19	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
20	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
21	Implications of mitochondrial dynamics on neurodegeneration and on hypothalamic dysfunction. ( 26113818 )	Zorzano A....Claret M.	2015
22	Pituitary and/or hypothalamic dysfunction following moderate to severe traumatic brain injury: Current perspectives. ( 26693424 )		2015
23	Gut-Brain: Major Depressive Disorder, Hypothalamic Dysfunction, and High Calcium Score Associated With Leaky Gut. ( 26348609 )		2015
24	Severe phenotype of rapid-onset obesity, hypoventilation, hypothalamic dysfunction, and autonomic dysfunction syndrome. ( 24492667 )	Rossetti E....Picardo S.	2014
25	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
26	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
27	Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation: review and update. ( 24914877 )	Patwari P.P....Wolfe L.F.	2014
28	Hypothalamic Dysfunction of the Thrombospondin Receptor I+2I'-1 Underlies the Overeating and Obesity Triggered by Brain-Derived Neurotrophic Factor Deficiency. ( 24403154 )		2014
29	Hypothalamic Dysfunction Without Hamartomas Causing Gelastic Seizures in Optic Nerve Hypoplasia. ( 24700666 )		2014
30	Reversible hypothalamic dysfunction in optic nerve germinoma. ( 23524717 )	Chen C.H....Cho D.Y.	2013
31	A case of rapid-onset obesity with hypothalamic dysfunction, hypoventilation, autonomic dysregulation, and neural crest tumor: ROHHADNET syndrome. ( 23186956 )	Abaci A....Bober E.	2013
32	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
33	Comparison of body composition, basal metabolic rate and metabolic outcomes of adults with Prader Willi syndrome or lesional hypothalamic disease, with primary obesity. ( 23318724 )		2013
34	Systemic effects of hypothermia due to hypothalamic dysfunction after resection of a craniopharyngioma: case report and review of literature. ( 23047234 )		2013
35	Nocturnal Anxiety in a Youth with Rapid-onset Obesity, Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD). ( 23970913 )		2013
36	Anesthetic considerations for rapid-onset obesity, hypoventilation, hypothalamic dysfunction, and autonomic dysfunction (ROHHAD) syndrome in children. ( 22862685 )		2013
37	Noninvasive ventilation in a child with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD). ( 23059524 )	Luccoli L....Gregoretti C.	2012
38	Hypothalamic dysfunction in a patient with primary lymphoma of the central nervous system. ( 21822693 )	Antic D...Mihaljevic B	2012
39	Bilateral paramedian thalamic infarction with hypothalamic dysfunction. ( 22773515 )	Papu? E...Rejdak K	2012
40	Hypothalamic dysfunction in obesity. ( 22954151 )	Williams LM	2012
41	Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD): a case with additional features and review of the literature. ( 22715259 )		2011
42	Cyclophosphamide for rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome. ( 20727534 )	Paz-Priel I...Chen AR	2011
43	Partial reversibility of hypothalamic dysfunction and changes in brain activity after body mass reduction in obese subjects. ( 21515852 )	van de Sande-Lee S...Velloso LA	2011
44	Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation: analysis of hypothalamic and autonomic candidate genes. ( 21691246 )	Rand CM...Weese-Mayer DE	2011
45	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
46	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
47	A case of late-onset central hypoventilation syndrome with hypothalamic dysfunction: through a new phenotype. ( 20560260 )		2010
48	Postpartum hypothalamic dysfunction--a case report. ( 20806185 )	Krysiak R...Okopie? B	2010
49	Immunoglobulin therapy in idiopathic hypothalamic dysfunction. ( 19664546 )	Huppke P...G?rtner J	2009
50	Hypothalamic dysfunction in obesity. ( 20397624 )	Velloso LA...Araujo EP	2009

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	22.6	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	8393256 7805653 2169450
2	PRL	Prolactin	Protein Coding	22.44	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	8530591 2174755 7669403 (more) 1846002
3	GNRH1	Gonadotropin Releasing Hormone 1	Protein Coding	20.88	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	9758439 7921222 2132474
4	GH1	Growth Hormone 1	Protein Coding	16.76	Novoseek inferred ⁵⁵	9828916
5	POMC	Proopiomelanocortin	Protein Coding	15.98	DISEASES inferred ¹⁵
6	GHRH	Growth Hormone Releasing Hormone	Protein Coding	15.83	DISEASES inferred ¹⁵

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:

(show all 13)

#	Super pathways	Score	Top Affiliating Genes
1	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
2	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
3	NF-KappaB Family Pathway ⁶⁴ Show member pathways NF-KappaB (p50-p65) Pathway ⁶⁴	12.25	GH1 GHRH GNRH1
4	G-protein signaling RAC1 in cellular process ²² Show member pathways CDC42 signaling events ¹ Cytoskeleton remodeling CDC42 in cellular processes ²² RAC1 signaling pathway ¹	11.95	GH1 GHRH GNRH1
5	Immune response IFN alpha/beta signaling pathway ²² Show member pathways Cytokine Network ⁶⁴ Interferon alpha/beta signaling ⁶⁶ Regulation of IFNA signaling ⁶⁶	11.79	GH1 GHRH GNRH1
6	Immune response IFN gamma signaling pathway ²² Show member pathways IFN-gamma pathway ¹	11.62	GH1 GHRH GNRH1
7	G alpha (s) signalling events ⁶⁶	11.5	CRH GHRH POMC
8	Corticotropin-releasing hormone signaling pathway ¹	11.49	CRH POMC
9	Glucocorticoid receptor regulatory network ¹	11.41	POMC PRL
10	G-protein signaling_RhoA regulation pathway ²²	11.19	GH1 GHRH GNRH1
11	Growth hormone receptor signaling ⁶⁶ Show member pathways Prolactin receptor signaling ⁶⁶	10.98	GH1 PRL
12	G-protein signaling_Rap2B regulation pathway ²²	10.59	GH1 GHRH GNRH1
13	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	secretory granule	GO:0030141	9.37	POMC PRL
3	perikaryon	GO:0043204	9.33	CRH GHRH GNRH1
4	axon terminus	GO:0043679	9.32	GHRH GNRH1
5	endosome lumen	GO:0031904	9.26	GH1 PRL
6	extracellular space	GO:0005615	9.1	CRH GH1 GHRH GNRH1 POMC PRL

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

(show all 14)

#	Name	GO ID	Score	Top Affiliating Genes
1	G protein-coupled receptor signaling pathway	GO:0007186	9.81	CRH GHRH GNRH1 POMC
2	positive regulation of cell proliferation	GO:0008284	9.71	CRH GHRH PRL
3	cell-cell signaling	GO:0007267	9.63	GHRH GNRH1 POMC
4	response to nutrient levels	GO:0031667	9.52	GH1 PRL
5	positive regulation of multicellular organism growth	GO:0040018	9.49	GH1 GHRH
6	positive regulation of JAK-STAT cascade	GO:0046427	9.48	GH1 PRL
7	JAK-STAT cascade involved in growth hormone signaling pathway	GO:0060397	9.43	GH1 PRL
8	response to ethanol	GO:0045471	9.43	CRH GNRH1 PRL
9	positive regulation of insulin-like growth factor receptor signaling pathway	GO:0043568	9.4	GH1 GHRH
10	parturition	GO:0007567	9.37	CRH PRL
11	female pregnancy	GO:0007565	9.33	CRH GNRH1 PRL
12	ovulation cycle	GO:0042698	9.32	GNRH1 PRL
13	regulation of signaling receptor activity	GO:0010469	9.02	GH1 GHRH GNRH1 POMC PRL
14	positive regulation of lactation	GO:1903489	8.96	GHRH 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 GHRH
2	hormone activity	GO:0005179	9.1	CRH GH1 GHRH 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