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

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...

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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 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:

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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

Sources

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

Synonyms:

(11ALPHA,14BETA)-11,17,21-TRIHYDROXYPREGN-4-ENE-3,20-DIONE

(11b)-11,17,21-Trihydroxypregn-4-ene-3,20-dione

(11beta)-11,17,21-Trihydroxypregn-4-ene-3,20-dione

(11Β)-11,17,21-trihydroxypregn-4-ene-3,20-dione

(1S,2R,10S,11S,14S,15S,17S)-14,17-DIHYDROXY-14-(2-HYDROXYACETYL)-2,15-DIMETHYLTETRACYCLO[8.7.0.0^{2,7}.0^{11,15}]HEPTADEC-6-EN-5-ONE

11 Epicortisol

11a-Hydroxycorticosterone

11alpha-Hydroxycorticosterone

11b,17,21-Trihydroxyprogesterone

11b,17a,21-Trihydroxy-4-pregnene-3,20-dione

11beta,17,21-Trihydroxyprogesterone

11beta,17alpha,21-Trihydroxy-4-pregnene-3,20-dione

11beta-Hydrocortisone

11-beta-Hydrocortisone

11beta-Hydroxycortisone

11-beta-Hydroxycortisone

11b-Hydrocortisone

11b-Hydroxycortisone

11-Epicortisol

11-Hydrocortisone

11Β,17α,21-trihydroxy-4-pregnene-3,20-dione

11Β-hydrocortisone

17a-Hydroxycorticosterone

17alpha-Hydroxycorticosterone

17-Hydroxycorticosterone

4-Pregnen-11b,17a,21-triol-3,20-dione

4-Pregnen-11beta,17alpha,21-triol-3,20-dione

4-Pregnen-11β,17α,21-triol-3,20-dione

4-Pregnene-11alpha,21-triol 3,20-dione

4-Pregnene-11b,17a,21-triol-3,20-dione

ACETASOL HC

ACTICO МИХАИЛRT

Acticort

Acticort®|Efmody®|Plenadren®

Aeroseb HC

Aeroseb-HC

Alacort

Ala-cort

Ala-scalp

Algicirtis

Alphaderm

Amberin

Anflam

Anti-inflammatory hormone

Anucort-HC

ANUGESIC HC

Anusol HC

ANUSOL PLUS HC

ANUSOL SOOTHING RELIEF

Anusol-HC

Aquacort

Aquanil HC

Balneol-HC

Barseb HC

Basan-corti

Beta-HC

b-HC

CaldeCORT spray

CALMURID HC

CANESTEN HC

Cetacort

Chronocort

CIPRO HC

Clear aid

Cleiton

Cobadex

Colocort

Compound F

CORLAN

Cor-oticin

Cortanal

Cor-tar-quin

Cort-dome

Cortef

CORTENEM

Cortenema

Cortesal

Corticreme

Cortifair

Cortifan

Cortifoam

Cortiment

Cortisol

Cortisol alcohol

Cortisolonum

Cortisporin

Cortisporin otico

Cortispray

Cortizol

Cortolotion

Cortonema

Cortoxide

Cort-quin

CORTRIL

Cremesone

Cremicort-H

Cutisol

DAKTACORT

DAKTACORT HYDROCORT

Delacort

DERMA CARE HYDROCORT

Dermacort

Derm-aid

DERMASPRAY DEMANG

Dermil

Dermolate

Dihydrocostisone

Dioderm

Dome-cort

Domolene-HC

Drotic

ECONACORT

Ef corlin

Efcorbin

Efcortelan

EFCORTELAN P

Efcortelin

Eldecort

Eldercort

Epicort

Epicortisol

Epiderm H

Esiderm H

EURAX-HC

EURAX-HYDROCORT

Evacort

EXE-CORT

Ficortril

Fiocortril

Flexicort

Foille insetti

Genacort

GERMOLOIDS HC

Glycort

GREGODERM

gyno-Cortisone

HC

HC #1

HC #4

HC (HYDROCORTISONE)

HC45

H-Cort

Heb cort

Heb-cort

Hi-cor

Hidalone

hidro-Colisona

Hidrocortisona

Hycort

Hycortol

Hycortole

Hydracort

Hydrasson

hydro-Adreson

hydro-Colisona

Hydrocort

HYDROCORT IN CALAMINE OILY

HYDROCORT IN CETOMACROGOL FOR A

HYDROCORT IN WTE SOFT PARAF

Hydrocortal

Hydrocorticosterone

Hydrocortisone

Hydrocortisone acetate

Hydrocortisone alcohol

Hydrocortisone base

Hydrocortisone butyrate

Hydrocortisone free alcohol

Hydrocortisone in absorbase

Hydrocortisone sodium phosphate

Hydrocortisone valerate

Hydrocortisone, (11 alpha)-isomer

Hydrocortisone, (9 beta,10 alpha,11 alpha)-isomer

Hydrocortisonum

Hydrocortistab

Hydrocortisyl

HYDROCORTONE

HYDRODERM

HYDRODERM HC

hydro-RX

Hydroskin

Hydroxycortisone

Hysone

Hytisone

Hytone

Hytone lotion

Idrocortisone

Incortin-H

Incortin-hydrogen

JUNGLE FOR

Kendall's compound F

Komed HC

Kyypakkaus

Lacticare HC

Lacticare-HC

Lactisona

Locoid

Lubricort

Maintasone

Medicort

Meusicort

Micort-HC

Mildison

MILDISON LIPOCREAM

Milliderm

neo-Cort-dome

neo-Cortef

Neosporin-H ear

Nogenic HC

NSC-10483

Nutracort

NYBADEX

Nystaform-HC

Ophthocort

Optef

Otalgine

Otic-neo-cort-dome

Otobiotic

Otocort

OTOSEPTIL

Otosone-F

OTOSPORIN

Pediotic suspension

Penecort

PERINAL

Permicort

Plenadren

Polcort H

Preparation H hydrocortisone cream

Prepcort

Prestwick_265

Prevex HC

Proctocort

PROCTOCREAM HC

Proctofoam

PROCTOFOAM HC

PROCTOSEDYL

Protocort

QUINOCORT

Racet

Rectoid

Reichstein's substance m

Remederm HC

Sanatison

Scalpicin capilar

Schericur

Scheroson F

SENTIAL HC

Sigmacort

Signef

Stie-cort

Stiefcorcil

Synacort

Systral hydrocort

Tarcortin

Terra-cortril

TERRA-CORTRIL NYSTATIN

Texacort

Timocort

TIMODINE

Topicort

TOPISONE

Transderma H

Traumaide

TRI-CICATRIN

U-cort

Uniderm

UNIROID

UNIROID HC

Vioform-hydrocortisone

VoSol HC

Vytone

XYLOPROCT

Zenoxone

β-HC

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

Synonyms:

(+)-3,17B-ESTRADIOL

(17b)-Estra-1,3,5(10)-triene-3,17-diol

(17BETA)-ESTRA-1,3,5(10)-TRIENE-3,17-DIOL

(17Β)-ESTRA-1,3,5(10)-TRIENE-3,17-DIOL

(1S,10R,11S,14S,15S)-15-METHYLTETRACYCLO[8.7.0.0^{2,7}.0^{11,15}]HEPTADECA-2,4,6-TRIENE-5,14-DIOL

(8R,9S,13S,14S,17S)-13-METHYL-6,7,8,9,11,12,14,15,16,17-DECAHYDROCYCLOPENTA[A]PHENANTHRENE-3,17-DIOL

[3H]-estradiol|[3H]-estrogen|[3H]E2|[3H]estradiol

13B-METHYL-1,3,5(10)-GONATRIENE-3,17B-OL

17 beta Estradiol

17 beta Oestradiol

17 beta-Estradiol

17 beta-Oestradiol

17b Oestradiol

17b-Estra-1,3,5(10)-triene-3,17-diol

17B-ESTRADIOL

17BETA OESTRADIOL

17BETA-ESTRA-1,3,5(10)-TRIENE-3,17-DIOL

17BETA-ESTRADIOL

17BETA-OESTRADIOL

17B-OESTRADIOL

17Β oestradiol

17Β-ESTRA-1,3,5(10)-TRIENE-3,17-DIOL

17β-estradiol

17Β-OESTRADIOL

3,17B-DIHYDROXYESTRA-1,3,5(10)-TRIENE

3,17B-ESTRADIOL

3,17-EPIDIHYDROXYESTRATRIENE

ADGYN ESTRO

AERODIOL

AGOFOLLIN

ALFATRADIOL

ALORA

ALTRAD

AMNESTROGEN

AQUADIOL

AQUAGEN

BARDIOL

BEDOL

B-ESTRADIOL

BETA-ESTRADIOL

CIS-ESTRADIOL

CLIMADERM

CLIMARA

CLIMARA PRO

COMPUDOSE

CORPAGEN

Delestrogen

DELTA-ESTRADIOL

DELTA-OESTRADIOL

DEPO-ESTRADIOL

DERMESTRIL

DERMESTRIL 100

DERMESTRIL 25

DERMESTRIL 50

DERMESTRIL SEPTEM 25

DERMESTRIL SEPTEM 50

DERMESTRIL SEPTEM 75

DESTRADIOL

D-ESTRADIOL

DIHYDROFOLLICULAR HORMONE

DIHYDROFOLLICULIN

DIHYDROMENFORMON

DIHYDROTHEELIN

DIHYDRO-THEELIN

DIHYDROXYESTRIN

DIMENFORMON

DIOGYN

DIOGYNETS

DIVIGEL

D-OESTRADIOL

E2

E2|estrogen|oestrodiol|oestrogen

E-CYPIONATE

ELESTRIM

ELESTRIN

ELLESTE SOLO

ELLESTE SOLO MX 40

ELLESTE SOLO MX 80

ENCORE

EPIESTRIOL 50

ESCLIM

ESTRA-1,3,5(10)-TRIENE-3,17B-DIOL

ESTRACE

ESTRADERM

ESTRADERM MX 100

ESTRADERM MX 25

ESTRADERM MX 50

ESTRADERM MX 75

ESTRADERM TTS

ESTRADERM TTS 100

ESTRADERM TTS 25

ESTRADERM TTS 50

ESTRADIOL

Estradiol 17 alpha

Estradiol 17 beta

Estradiol 17beta

Estradiol anhydrous

ESTRADIOL HEMIHYDRATE

Estradiol hemihydrate, (17 alpha)-isomer

Estradiol monohydrate

Estradiol orion brand

Estradiol valerate

Estradiol valeriante

Estradiol, (-)-isomer

Estradiol, (+-)-isomer

Estradiol, (16 alpha,17 alpha)-isomer

Estradiol, (16 alpha,17 beta)-isomer

Estradiol, (17-alpha)-isomer

Estradiol, (8 alpha,17 beta)-(+-)-isomer

Estradiol, (8 alpha,17 beta)-isomer

Estradiol, (9 beta,17 alpha)-isomer

Estradiol, (9 beta,17 beta)-isomer

Estradiol, monosodium salt

Estradiol, sodium salt

Estradiol-17 alpha

Estradiol-17 beta

Estradiol-17b

ESTRADIOL-17BETA

ESTRADIOL-17-BETA

Estradiol-17β

ESTRADIOLUM

ESTRADOT

ESTRALDINE

ESTRASORB

ESTRING

ESTRING VAGINAL RING

ESTROCLIM

ESTROCLIM 50

ESTROGEL

ESTROGEL HBF

ESTROGEN

ESTROVITE

EVAMIST

EVOREL

EVOREL 100

EVOREL 25

EVOREL 50

EVOREL 75

FEMATRIX 40

FEMATRIX 80

FEMESTRAL

FEMOGEN

FEMPATCH

FEMSEVEN 100

FEMSEVEN 50

FEMSEVEN 75

FOLLICYCLIN

GELESTRA

GINOSEDOL

GVNODIOL

GYNERGON

GYNODIOL

GYNOESTRYL

GYNOGEN

IMVEXXY

INNOFEM

LAMDIOL

MACRODIOL

MENOREST

MENOREST 37.5

MENOREST 50

MENOREST 75

MENORING 50

MENOSTAR

MINIVELLE

NORDICOL

Novartis pharmaceuticals brand OF estradiol

NSC-20293

NSC-9895

OESCLIM

OESTERGON

OESTRA-1,3,5(10)-TRIENE-3,17B-DIOL

OESTRADIOL

OESTRODIOL

OESTROGEL

OESTROGEN

OESTROGLANDOL

Orion brand OF estradiol

OVAHORMON

OVASTEROL

OVASTEVOL

OVOCYCLIN

OVOCYLIN

PERLATANOL

PRIMOFOL

PROFOLIOL

PROFOLIOL B

PROGYNON

Progynon depot

PROGYNON DH

Progynon-depot

Progynova

PROGYNOVA TS

SANDRENA

SANDRENA 1

SYNDIOL

SYSTEN

VAGIFEM

VAGIFEM 18

VAGIFEM 8

VIVELLE

VIVELLE-DOT

WC3011

WC-3011

ZUMENON

Β-estradiol

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

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Genetic Tests for Hypothalamic Disease

Sources

Anatomical Context for Hypothalamic Disease

Organs/tissues related to Hypothalamic Disease:

MalaCards : Hypothalamus, Pituitary, Testes, Thyroid, Brain, Pineal, Ovary

Sources

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	Walker BR...Padfield PL	9828916	1998
2	Dynamics of prolactin secretion in patients with hypopituitarism and pituitary macroadenomas. ⁵³ ⁶²	Arafah BM...Selman WR	8530591	1995
3	[Disturbance of hypothalamic-pituitary hormone secretion in familial chorea-acanthocytosis]. ⁵³ ⁶²	Terao S...Sakakibara T	7669403	1995
4	Pathogenesis of pituitary Cushing's syndrome. Pituitary versus hypothalamic. ⁵³ ⁶²	Biller BM	7805653	1994
5	An apparent cluster of congenital hypopituitarism in central Massachusetts: magnetic resonance imaging and hormonal studies. ⁵³ ⁶²	Brown RS...Hayes E	1846002	1991
6	CRH and lysine-vasopressin stimulation tests in the diagnosis of hypoadrenalism secondary to hypothalamic or pituitary disorders. ⁵³ ⁶²	Cantalamessa L...Peracchi G	2169450	1990
7	MKRN3 circulating levels in Prader-Willi syndrome: a pilot study. ⁶²	Mariani M...Grandone A	35854182	2022
8	Precocious puberty in narcolepsy type 1: Orexin loss and/or neuroinflammation, which is to blame? ⁶²	Melzi S...Peyron C	36096986	2022
9	Genomic analysis, immunomodulation and deep phenotyping of patients with nodding syndrome. ⁶²	Soldatos A...Nath A	36181424	2022
10	Benfotiamine protects against hypothalamic dysfunction in a STZ-induced model of neurodegeneration in rats. ⁶²	Moraes RCM...Torrao ADS	35907494	2022
11	Diagnosis and Management of Pediatric Papillary Craniopharyngiomas. ⁶²	Zhao C...Lin Z	35660482	2022
12	Linking oxytocin and arginine vasopressin signaling abnormalities to social behavior impairments in Prader-Willi syndrome. ⁶²	Oztan O...Parker KJ	36113782	2022
13	Resting energy expenditure in children at risk of hypothalamic dysfunction. ⁶²	Van Schaik J...van Santen HM	35904233	2022
14	Rituximab therapy in ROHHAD(NET) syndrome. ⁶²	Hawton KAC...Hamilton Shield JP	35470643	2022
15	The clinical and metabolic characteristics of children and adolescents with hypothalamic dysfunction: A single-centre study from China. ⁶²	Ke X...Zhu H	35978545	2022
16	Hypothalamic Hnscr regulates glucose balance by mediating central inflammation and insulin signal. ⁶²	Liu Y...Jiang TJ	36042571	2022
17	Features of Pregnancy Management in Kidney Transplant Recipients. ⁶²	Bakhritdinov FS...Elmurodova NB	36018030	2022
18	ZSCAN1 Autoantibodies Are Associated with Pediatric Paraneoplastic ROHHAD. ⁶²	Mandel-Brehm C...DeRisi JL	35466441	2022
19	Identification of clinical factors related to antibody-mediated immune response to the subfornical organ. ⁶²	Nakamura-Utsunomiya A...Hiyama TY	35419873	2022
20	What Works for One May Not Work for Another: A New Warning for Modafinil. ⁶²	Kim H...Scharf SM	36043022	2022
21	The effect of weight loss on hypothalamus structure and function in obese individuals: a systematic review and meta-analysis. ⁶²	Devi S...Mekary RA	35659180	2022
22	Body mass index at diagnosis of a childhood brain tumor; a reflection of hypothalamic-pituitary dysfunction or lifestyle? ⁶²	van Roessel IMAA...van Santen HM	35416504	2022
23	Dietary administration of D-chiro-inositol attenuates sex-specific metabolic imbalances in the 5xFAD mouse model of Alzheimer's disease. ⁶²	Lopez-Gambero AJ...Suarez J	35483188	2022
24	Autoimmunity Related to Adipsic Hypernatremia and ROHHAD Syndrome. ⁶²	Nakamura-Utsunomiya A	35805903	2022
25	Approach to the Patient: Management of Pituitary Hormone Replacement Through Transition. ⁶²	Cerbone M...Dattani MT	35262704	2022
26	Perivascular macrophages in high-fat diet-induced hypothalamic inflammation. ⁶²	Mendes NF...Velloso LA	35681242	2022
27	The timeline of neuronal and glial alterations in experimental obesity. ⁶²	Engel DF...Velloso LA	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	Marpuri I...Vidmar AP	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	Daripa B...Lucchese S	35651471	2022
30	Hypothalamic expression of huntingtin causes distinct metabolic changes in Huntington's disease mice. ⁶²	Dickson E...Bjorkqvist M	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	Koizumi M...Kawai M	34750859	2022
32	Surgical management of pituicytomas: a single-center case series. ⁶²	Trifa A...Parker F	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	Khaytin I...Weese-Mayer DE	34694990	2022
34	The Role of Surgical Approaches in the Multi-Modal Management of Adult Craniopharyngiomas. ⁶²	Hong CS...Omay SB	35323318	2022
35	Syndrome of Inappropriate Antidiuretic Hormone Secretion (SIADH) and Precocious Puberty With a Third Ventricle Arachnoid Cyst. ⁶²	Imam A...Buggs-Saxton C	35308703	2022
36	Transition From Diencephalic Syndrome to Hypothalamic Obesity in Children With Suprasellar Low Grade Glioma: A Case Series. ⁶²	van Roessel IMAA...van Santen HM	35464054	2022
37	Images: Sleep-disordered breathing and hypoventilation in a child with obesity and hypothalamic dysfunction. ⁶²	Ghosh R...Kasi AS	34534067	2022
38	A Case Report of Hyperestrogenism in Prader-Willi Syndrome. ⁶²	Albanese I...Garfield N	35097192	2022
39	In vivo neuroimaging evidence of hypothalamic alteration in Prader-Willi syndrome. ⁶²	Brown SSG...Holland A	36147452	2022
40	Developmental disorders affecting the respiratory system: CCHS and ROHHAD. ⁶²	Ceccherini I...Weese-Mayer DE	36031316	2022
41	ROHHAD syndrome without rapid-onset obesity: A diagnosis challenge. ⁶²	Desse B...Giovannini-Chami L	36120648	2022
42	A new perspective of hypothalamic disease: Shapiro's syndrome. ⁶²	Ren L...Wang G	35968294	2022
43	Case Report: Considerations of nocturnal ventilator support in ROHHAD syndrome in chronic care of childhood central hypoventilation with hypothalamus dysfunction. ⁶²	Zhao R...Han F	36120657	2022
44	Bexarotene-induced central hypothyroidism assessed by TRH stimulation test in cutaneous T-cell lymphoma patients. ⁶²	Toi N...Emoto M	34433736	2022
45	Peri-operative management of a child with ROHHAD-NET syndrome undergoing neural crest tumour excision. ⁶²	Puri S...Menon P	35756834	2022
46	An Efficient Method for the Isolation and Cultivation of Hypothalamic Neural Stem/Progenitor Cells From Mouse Embryos. ⁶²	Ou Y...Feng Z	35185481	2022
47	Papillary Craniopharyngioma: A Type of Tumor Primarily Impairing the Hypothalamus - A Comprehensive Anatomo-Clinical Characterization of 350 Well-Described Cases. ⁶²	Prieto R...Pascual JM	35108706	2022
48	Loss of C2 Domain Protein (C2CD5) Alters Hypothalamic Mitochondrial Trafficking, Structure, and Function. ⁶²	Gavini CK...Aubert G	34034255	2022
49	A 40-Year Cohort Study of Evolving Hypothalamic Dysfunction in Infants and Young Children (<3 years) with Optic Pathway Gliomas. ⁶²	Picariello S...Spoudeas HA	35159015	2022
50	Recurrent Hypothalamic Dysfunction in Seropositive Neuromyelitis Optica. ⁶²	McKenna MC...Bradley D	34992979	2021

Sources

Genes for Hypothalamic Disease

Genes related to Hypothalamic Disease (0 elite genes):

(show all 12)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	PRL	Prolactin	Protein Coding	13.25	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	8530591 2174755 7669403 (more) 1846002
2	CRH	Corticotropin Releasing Hormone	Protein Coding	13.06	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	8393256 7805653 2169450
3	GNRH1	Gonadotropin Releasing Hormone 1	Protein Coding	11.68	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	9758439 7921222 2132474
4	GH1	Growth Hormone 1	Protein Coding	11.44	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	9828916
5	POMC	Proopiomelanocortin	Protein Coding	6.59	DISEASES inferred ¹⁴
6	TRH	Thyrotropin Releasing Hormone	Protein Coding	6.54	DISEASES inferred ¹⁴
7	GHRH	Growth Hormone Releasing Hormone	Protein Coding	6.17	DISEASES inferred ¹⁴
8	AVP	Arginine Vasopressin	Protein Coding	5.57	DISEASES inferred ¹⁴
9	INS	Insulin	Protein Coding	5.56	DISEASES inferred ¹⁴
10	HCRT	Hypocretin Neuropeptide Precursor	Protein Coding	5.28	DISEASES inferred ¹⁴
11	IGF1	Insulin Like Growth Factor 1	Protein Coding	5.23	DISEASES inferred ¹⁴
12	TSHB	Thyroid Stimulating Hormone Subunit Beta	Protein Coding	5.1	DISEASES inferred ¹⁴

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 21)

#	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	13.28	PRL INS IGF1 GNRH1 GHRH GH1
2	GPCR downstream signalling ⁶⁶ Show member pathways G alpha (i) signalling events ⁶⁶ G alpha (q) signalling events ⁶⁶ Signaling by GPCR ⁶⁶	13.28	TSHB TRH POMC HCRT GNRH1 GHRH
3	Class A/1 (Rhodopsin-like receptors) ⁶⁶ Show member pathways "GPCRs, class A rhodopsin-like" ⁷⁴ GPCR ligand binding ⁶⁶ Peptide GPCRs ⁷⁴ Peptide ligand-binding receptors ⁶⁶	12.99	AVP CRH GHRH GNRH1 HCRT POMC
4	p70S6K Signaling ⁶⁴ Show member pathways mTOR Pathway ⁶⁴ Renin-Angiotensin Pathway ⁶⁴	12.78	INS IGF1 GNRH1 GHRH GH1
5	Signal Transduction ⁶⁶	12.73	TSHB TRH POMC INS IGF1 HCRT
6	NF-KappaB Family Pathway ⁶⁴ Show member pathways NF-KappaB (p50-p65) Pathway ⁶⁴	12.46	IGF1 GNRH1 GHRH GH1
7	G-Beta Gamma Signaling ⁶⁴ Show member pathways CRHR Pathway ⁶⁴ GHRH Signaling ⁶⁴	12.41	POMC GHRH GH1 CRH
8	Overview of interferons-mediated signaling pathway ⁷⁴ Show member pathways all-trans-Retinoic Acid Mediated Apoptosis ⁶⁴ Cytokine Network ⁶⁴ Immune response IFN alpha/beta signaling pathway ²² Interferon alpha/beta signaling ⁶⁶ Jak/STAT Signaling Pathway ⁶⁵ Regulation of IFNA/IFNB signaling ⁶⁶ Type III interferon signaling ⁷⁴	12.4	IGF1 GNRH1 GHRH GH1
9	G-protein signaling RAC1 in cellular process ²² Show member pathways CDC42 signaling events ⁶¹ Cytoskeleton remodeling CDC42 in cellular processes ²² RAC1 signaling pathway ⁶¹	12.14	IGF1 GNRH1 GHRH GH1
10	Adipogenesis ⁷⁴	11.84	GH1 IGF1 INS
11	Peptide hormone metabolism ⁶⁶ Show member pathways "Synthesis, secretion, and deacylation of Ghrelin" ⁶⁶ Glycoprotein hormones ⁶⁶ Metabolism of Angiotensinogen to Angiotensins ⁶⁶ Metabolism of Angiotensinogen to Angiotensins ⁷⁴ Peptide hormone biosynthesis ⁶⁶ thyroid hormone biosynthesis ⁶¹	11.79	TSHB POMC INS IGF1 GH1
12	G alpha (s) signalling events ⁶⁶ Show member pathways Defective ACTH causes obesity and POMCD ⁶⁶	11.56	TSHB POMC GHRH CRH AVP
13	Thyroid hormones production and peripheral downstream signaling effects ⁷⁴	11.55	POMC TRH TSHB
14	G-protein signaling_RhoA regulation pathway ²²	11.47	IGF1 GNRH1 GHRH GH1
15	Prader-Willi and Angelman syndrome ⁷⁴	11.41	POMC INS GNRH1 GHRH
16	Development_Leptin signaling via JAK/STAT and MAPK cascades ²² Show member pathways phospho-PLA2 pathway ⁶⁶	11.07	TRH POMC
17	Serotonin and anxiety ⁷⁴ Show member pathways Serotonin and anxiety-related events ⁷⁴	11.05	POMC CRH
18	"Antipsychotics Pathway (Metabolic Side Effects), Pharmacodynamics" ⁶⁰	10.85	PRL POMC INS
19	G-protein signaling_Rap2B regulation pathway ²²	10.78	IGF1 GNRH1 GHRH GH1
20	Hormone ligand-binding receptors ⁶⁶	10.59	TSHB GNRH1
21	"Glucocorticoid Pathway (HPA Axis), Pharmacodynamics" ⁶⁰	10.28	POMC CRH

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 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

Sources for Hypothalamic Disease

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 24-Oct-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

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 Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: HYP085 MIFTS: 42	Hypothalamic Disease Categories: Endocrine diseases, Neuronal diseases	Data Licensing For inquiries, contact: [email protected]
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