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

MCID: HYP231 MIFTS: 46	Hypothalamic Hamartomas Categories: Fetal diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Hypothalamic Hamartomas

MalaCards integrated aliases for Hypothalamic Hamartomas:

Name: Hypothalamic Hamartomas ⁵⁶ ⁷⁴ ⁵² ⁷¹

Hamartoma of Hypothalamus ²⁹ ⁶ ³⁹

Hypothalamic Hamartomas, Somatic ⁵⁶ ¹³

Hamartoma of the Hypothalamus ⁵²

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

HPO:

³¹

hypothalamic hamartomas:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 241800

MedGen ⁴¹ C0342418

UMLS ⁷¹ C0342418

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Summaries for Hypothalamic Hamartomas

NIH Rare Diseases : ⁵² Hypothalamic hamartomas (HH) are rare, tumor -like malformations that occur during fetal development and are present at birth. The lesions usually do not change in size or spread to other locations. Both the type and severity of symptoms vary greatly among patients with hypothalamic hamartomas. Common symptoms include frequent gelastic seizures (spontaneous laughing, giggling and/or smirking) or dacrystic seizures (crying or grunting); developmental delays; and/or precocious puberty . Additional symptoms may include cognitive impairment; emotional and behavioral difficulties; and endocrine disturbances. These symptoms often start early in life but are frequently misdiagnosed. For some patients, endocrine (hormonal) disturbances such as central precocious puberty may be the only symptom. These patients can often be treated successfully with medications. For some, however, HH can be disabling. For those with HH and epilepsy , it is common for the disorder to progress and for different types of seizures to develop. The seizures associated with HH often cannot be well-controlled with the standard seizure medications. For some, additional treatment such as surgical removal, radiosurgery , or thermoablation may be indicated. Though hypothalamic hamartomas can occur in patients with certain genetic disorders (such as Pallister-Hall syndrome ), the majority of cases are sporadic.

MalaCards based summary : Hypothalamic Hamartomas, also known as hamartoma of hypothalamus, is related to precocious puberty and central precocious puberty. An important gene associated with Hypothalamic Hamartomas is GLI3 (GLI Family Zinc Finger 3), and among its related pathways/superpathways are Peptide ligand-binding receptors and Neuroscience. Affiliated tissues include hypothalamus, brain and heart, and related phenotypes are skeletal dysplasia and depressed nasal bridge

Wikipedia : ⁷⁴ Tuber cinereum hamartoma is a benign tumor in which a disorganized collection of neurons and glia... more...

More information from OMIM: 241800

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Related Diseases for Hypothalamic Hamartomas

Diseases related to Hypothalamic Hamartomas via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 126)

#	Related Disease	Score	Top Affiliating Genes
1	precocious puberty	31.2	KISS1R KISS1 GNRH1
2	central precocious puberty	30.7	KISS1R KISS1 GNRH1
3	focal epilepsy	29.8	SLC12A5 SLC12A2 GRM1
4	hypogonadism	29.0	KISS1R KISS1 GNRHR GNRH1
5	hypothalamic hamartomas with gelastic seizures	12.6
6	pallister-hall syndrome	12.5
7	orofaciodigital syndrome vi	11.7
8	culler-jones syndrome	11.4
9	congenital heart defects, hamartomas of tongue, and polysyndactyly	11.2
10	seizure disorder	10.9
11	visual epilepsy	10.9
12	epilepsy	10.8
13	diabetes insipidus	10.4
14	polydactyly	10.4
15	encephalopathy	10.4
16	west syndrome	10.3
17	arachnoid cysts, intracranial	10.3
18	hypothyroidism	10.3
19	temporal lobe epilepsy	10.3
20	pituitary hormone deficiency, combined, 2	10.2
21	hydrocephalus	10.2
22	attention deficit-hyperactivity disorder	10.2
23	alacrima, achalasia, and mental retardation syndrome	10.2
24	orofaciodigital syndrome	10.2
25	hypogonadotropic hypogonadism 23 without anosmia	10.1	GNRHR GNRH1
26	chromosome 2q35 duplication syndrome	10.1
27	conduct disorder	10.1
28	hypogonadotropic hypogonadism 7 with or without anosmia	10.1	GNRHR GNRH1
29	adrenal hypoplasia, congenital	10.0	GNRHR GNRH1
30	neurofibromatosis, type ii	10.0
31	anus, imperforate	10.0
32	fryns microphthalmia syndrome	10.0
33	lennox-gastaut syndrome	10.0
34	cerebellar hypoplasia	10.0
35	hemiplegia	10.0
36	hyperandrogenism	10.0
37	personality disorder	10.0
38	status epilepticus	10.0
39	gangliocytoma	10.0
40	acromegaly	10.0
41	astrocytoma	10.0
42	pituitary gland disease	10.0
43	juvenile pilocytic astrocytoma	10.0
44	neurofibromatosis	10.0
45	cleft lip	10.0
46	intracranial hypertension	10.0
47	growth hormone deficiency	10.0
48	pseudobulbar affect	10.0
49	rare tumor	10.0
50	epileptic encephalopathy, early infantile, 34	10.0	SLC12A5 SLC12A2

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

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Symptoms & Phenotypes for Hypothalamic Hamartomas

Human phenotypes related to Hypothalamic Hamartomas:

³¹ (show all 22)

#	Description	HPO Source Accession
1	skeletal dysplasia ³¹	HP:0002652
2	depressed nasal bridge ³¹	HP:0005280
3	macrocephaly ³¹	HP:0000256
4	short nose ³¹	HP:0003196
5	hydrocephalus ³¹	HP:0000238
6	cleft palate ³¹	HP:0000175
7	micrognathia ³¹	HP:0000347
8	anterior hypopituitarism ³¹	HP:0000830
9	micropenis ³¹	HP:0000054
10	hip dislocation ³¹	HP:0002827
11	glioma ³¹	HP:0009733
12	micromelia ³¹	HP:0002983
13	postaxial hand polydactyly ³¹	HP:0001162
14	median cleft lip ³¹	HP:0000161
15	pulmonary hypoplasia ³¹	HP:0002089
16	abnormality of cardiovascular system morphology ³¹	HP:0030680
17	abnormal heart morphology ³¹	HP:0001627
18	occipital encephalocele ³¹	HP:0002085
19	microglossia ³¹	HP:0000171
20	renal dysplasia ³¹	HP:0000110
21	short ribs ³¹	HP:0000773
22	hypothalamic hamartoma ³¹	HP:0002444

Symptoms via clinical synopsis from OMIM:

⁵⁶

Skel:
skeletal dysplasia
micromelia
short ribs
postaxial polydactyly
dislocated hips

Neuro:
hydrocephalus
hypothalamic hamartoma
brain stem glioma
posterior encephalocele

Lung:
pulmonary hypoplasia

Cardiac:
congenital heart defect

H E E N T:
macrocephaly
short nose
cleft palate
micrognathia
microglossia
more

G U:
micropenis
renal dysplasia

Endo:
hypopituitarism

Misc:
infantile death usual

Clinical features from OMIM:

241800

MGI Mouse Phenotypes related to Hypothalamic Hamartomas:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	growth/size/body region	MP:0005378	10.1	GLI3 GNRH1 GNRHR GRM1 KISS1 KISS1R
2	digestive/alimentary	MP:0005381	10.06	GLI3 GNRH1 GNRHR KISS1 KISS1R SLC12A2
3	integument	MP:0010771	10.02	GLI3 GNRH1 GNRHR GRM1 KISS1 KISS1R
4	endocrine/exocrine gland	MP:0005379	9.98	GLI3 GNRH1 GNRHR KISS1 KISS1R SLC12A2
5	nervous system	MP:0003631	9.97	GLI3 GNRH1 GRM1 INA KISS1 KISS1R
6	adipose tissue	MP:0005375	9.88	GRM1 KISS1 KISS1R SLC12A2 TGFA
7	normal	MP:0002873	9.73	GLI3 GNRH1 GNRHR INA KISS1R SMO
8	renal/urinary system	MP:0005367	9.63	GLI3 GNRH1 GNRHR GRM1 KISS1 KISS1R
9	reproductive system	MP:0005389	9.61	GLI3 GNRH1 GNRHR GRM1 KISS1 KISS1R
10	skeleton	MP:0005390	9.17	GLI3 GNRH1 GRM1 KISS1R SLC12A2 SMO

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Drugs & Therapeutics for Hypothalamic Hamartomas

Search Clinical Trials , NIH Clinical Center for Hypothalamic Hamartomas

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Genetic Tests for Hypothalamic Hamartomas

Genetic tests related to Hypothalamic Hamartomas:

#	Genetic test	Affiliating Genes
1	Hamartoma of Hypothalamus ²⁹	GLI3

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Anatomical Context for Hypothalamic Hamartomas

MalaCards organs/tissues related to Hypothalamic Hamartomas:

⁴⁰

Hypothalamus, Brain, Heart, Pituitary, Eye, Parietal Lobe, Temporal Lobe

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Publications for Hypothalamic Hamartomas

Articles related to Hypothalamic Hamartomas:

(show top 50) (show all 319)

#	Title	Authors	PMID	Year
1	Identification of somatic chromosomal abnormalities in hypothalamic hamartoma tissue at the GLI3 locus. ⁵⁶ ⁶¹	Craig DW...Kerrigan JF	18252217	2008
2	Congenital hypothalamic hamartoma syndrome: nosological discussion and minimum diagnostic criteria of a possibly familial form. ⁵⁶ ⁶¹	Encha-Razavi F...Mulliez N	1308364	1992
3	Hamartoma of the hypothalamus; report of two cases with associated developmental defects. ⁵⁶	MARCUSE PM...SALMON GW	13085273	1953
4	Pre- and postnatal MR imaging of an asymptomatic giant hypothalamic hamartoma. ⁶¹	Cristobal A...Urbine J	32577141	2020
5	A GLI3 variant leading to polydactyly in heterozygotes and Pallister-Hall-like syndrome in a homozygote. ⁶¹	Kariminejad A...Hennekam RC	32112393	2020
6	Staged Magnetic Resonance-Guided Laser Interstitial Thermal Therapy for Hypothalamic Hamartoma: Analysis of Ablation Volumes and Morphological Considerations. ⁶¹	Gadgil N...Curry DJ	31990344	2020
7	Surgical treatment of hypothalamic hamartomas. ⁶¹	Bourdillon P...Dorfmuller G	32318922	2020
8	A Simple Technique for Endoscopic Hypothalamic Hamartoma Disconnection in Refractory Epilepsy: 2-Dimensional Operative Video. ⁶¹	Budke M...Mena-Bernal JH	32243545	2020
9	Laser interstitial thermotherapy (LiTT) in pediatric epilepsy surgery. ⁶¹	Hoppe C...Helmstaedter C	30591281	2020
10	Transtemporal approach to hypothalamic hamartomas in children: report of 3 cases. ⁶¹	Silva AHD...Walsh AR	32109874	2020
11	Seizure outcome and prognostic factors for surgical management of hypothalamic hamartomas in children. ⁶¹	Ferrand-Sorbets S...Dorfmuller G	31865135	2020
12	Hypothalamic hamartomas and inner ear diverticula with X-linked stapes gusher syndrome - new associations? ⁶¹	Anderson EA...Nascene DR	31440883	2020
13	Neuropsychiatric profile of paediatric hypothalamic hamartoma: systematic review and case series. ⁶¹	Corbet Burcher G...Heyman I	30977116	2019
14	Laser thermal ablation in epilepsy. ⁶¹	Grewal SS...Tatum WO	31385545	2019
15	Hypothalamic hamartomas in adulthood: Clinical spectrum and treatment outcome-A unicenter experience. ⁶¹	Conde Blanco E...Carreno M	31578831	2019
16	A rare concurrence: gelastic seizures in a patient with right temporal nongalenic pial arteriovenous fistula. ⁶¹	Sarigecili E...Okuyaz C	30783755	2019
17	Malformations of cortical development: New surgical advances. ⁶¹	Bourdillon P...Guenot M	30819503	2019
18	Improvement of Hypothalamic Hamartoma-Related Psychiatric Disorder After Stereotactic Laser Ablation: Case Report and Review of Literature. ⁶¹	Arocho-Quinones EV...Lew SM	30481631	2019
19	Stereoelectroencephalography in epilepsy, cognitive neurophysiology, and psychiatric disease: safety, efficacy, and place in therapy. ⁶¹	Youngerman BE...McKhann GM	31303757	2019
20	Inappropriate Laughter and Behaviours: How, What, and Why? Case of an Adult with Undiagnosed Gelastic Seizure with Hypothalamic Hamartoma. ⁶¹	Beckwith NL...Luna J	30533284	2018
21	Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma. ⁶¹	Blackburn PR...Zenteno JC	30450772	2018
22	Magnetic Resonance Imaging-Guided Laser Interstitial Thermal Therapy for the Treatment of Hypothalamic Hamartomas: A Retrospective Review. ⁶¹	Xu DS...Nakaji P	29346599	2018
23	Distinct temporal requirements for Sonic hedgehog signaling in development of the tuberal hypothalamus. ⁶¹	Corman TS...Epstein DJ	30291164	2018
24	A familial syndrome of hypothalamic hamartomas, polydactyly, and SMO mutations: a clinical report of 2 cases. ⁶¹	Rubino S...Adamo MA	30497210	2018
25	Correction to: Open resection of hypothalamic hamartomas for intractable epilepsy revisited, using intraoperative MRI. ⁶¹	van Tonder L...Chawira A	30027455	2018
26	Open resection of hypothalamic hamartomas for intractable epilepsy revisited, using intraoperative MRI. ⁶¹	van Tonder L...Chawira A	29752488	2018
27	CyberKnife® Radiosurgery as First-line Treatment for Catastrophic Epilepsy Caused by Hypothalamic Hamartoma. ⁶¹	Romanelli P	30221096	2018
28	Stereoelectroencephalography-Guided Radiofrequency Thermocoagulation for Hypothalamic Hamartomas: Preliminary Evidence. ⁶¹	Wei PH...Zhao GG	29605700	2018
29	Laser ablative therapy of sessile hypothalamic hamartomas in children using interventional MRI: report of 5 cases. ⁶¹	Southwell DG...Auguste KI	29451455	2018
30	Radiofrequency-thermoablation: General principle, historical overview and modern applications for epilepsy. ⁶¹	Voges J...Schmitt FC	29627122	2018
31	MR-guided laser ablation for the treatment of hypothalamic hamartomas. ⁶¹	Curry DJ...Wilfong AA	29631919	2018
32	Congenital Hypothalamic "Hamartoblastoma" Versus "Hamartoma": Suggestions for Neuropathologic Terminology Emanating From a Mid-gestational Autopsy Case of Pallister-Hall Syndrome. ⁶¹	Dunham C...McKinnon M	28429635	2018
33	MR-Guided Laser Interstitial Thermal Therapy for Medically Refractory Lesional Epilepsy in Pediatric Patients: Experience and Outcomes. ⁶¹	Fayed I...Oluigbo CO	30110689	2018
34	Hypothalamic hamartoma presenting with infantile spasms. ⁶¹	Isik U...Ozek MM	28762039	2017
35	Radiosurgery for epilepsy: Systematic review and International Stereotactic Radiosurgery Society (ISRS) practice guideline. ⁶¹	McGonigal A...Regis J	28939289	2017
36	Management of Epilepsy Due to Hypothalamic Hamartomas. ⁶¹	Khawaja AM...Ng YT	28886982	2017
37	Pure endoscopic management of epileptogenic hypothalamic hamartomas. ⁶¹	Chibbaro S...Proust F	28168619	2017
38	Laser Interstitial Thermal Therapy for Epilepsy. ⁶¹	Prince E...Miller JW	28699085	2017
39	Pallister-Hall Syndrome. ⁶¹	Chandra SR...Arivazhagan A	29204208	2017
40	Hypothalamic hamartoma: Neuropathology and epileptogenesis. ⁶¹	Kerrigan JF...Wu J	28591478	2017
41	Reduced glucose metabolism in neocortical network nodes remote from hypothalamic hamartomas reflects cognitive impairment. ⁶¹	Wagner K...Frings L	28591477	2017
42	Cognition in epilepsy patients with hypothalamic hamartomas. ⁶¹	Wagner K...Kerrigan JF	28591483	2017
43	Safety and efficacy of Gamma Knife radiosurgery in hypothalamic hamartomas with severe epilepsies: A prospective trial in 48 patients and review of the literature. ⁶¹	Regis J...Chauvel P	28591484	2017
44	Achieving a cure for hypothalamic hamartomas: a Sisyphean quest? ⁶¹	Regis J...Kerrigan JF	28591481	2017
45	Letter to the Editor. Stereotactic laser ablation for hypothalamic hamartomas after SRS failure. ⁶¹	Brandmeir NJ...Sather MD	28463619	2017
46	Neuroendoscopy: Current and Future Perspectives. ⁶¹	Shim KW...Choi JU	28490159	2017
47	Endoscopic Treatment of Hypothalamic Hamartomas. ⁶¹	Shim KW...Kim DS	28490155	2017
48	Complication avoidance in laser interstitial thermal therapy: lessons learned. ⁶¹	Pruitt R...Mehta AD	27257839	2017
49	Successful surgical management of New Onset Refractory Status Epilepticus (NORSE) presenting with gelastic seizures in a 3 year old girl. ⁶¹	Marashly A...Koop J	28725554	2017
50	Giant Hypothalamic Hamartoma in an Infant: A Case Report and Review of the Literature. ⁶¹	Kandregula S...Rao MB	27780163	2017

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Genes for Hypothalamic Hamartomas

Genes related to Hypothalamic Hamartomas (1 elite genes):

(show all 11)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	GLI3	GLI Family Zinc Finger 3	Protein Coding	650	Molecular basis known ⁵⁶ Genetic Tests ²⁹ Susceptibility factor ⁵⁶
2	SLC12A5	Solute Carrier Family 12 Member 5	Protein Coding	6.76	GeneCards inferred via : Publications (show sections)
3	TGFA	Transforming Growth Factor Alpha	Protein Coding	6.76	GeneCards inferred via : Publications (show sections)
4	GNRH1	Gonadotropin Releasing Hormone 1	Protein Coding	6.41	GeneCards inferred via : Publications (show sections)
5	GNRHR	Gonadotropin Releasing Hormone Receptor	Protein Coding	6.41	GeneCards inferred via : Publications (show sections)
6	GRM1	Glutamate Metabotropic Receptor 1	Protein Coding	6.41	GeneCards inferred via : Publications (show sections)
7	INA	Internexin Neuronal Intermediate Filament Protein Alpha	Protein Coding	6.41	GeneCards inferred via : Publications (show sections)
8	KISS1	KiSS-1 Metastasis Suppressor	Protein Coding	6.41	GeneCards inferred via : Publications (show sections)
9	KISS1R	KISS1 Receptor	Protein Coding	6.41	GeneCards inferred via : Publications (show sections)
10	SLC12A2	Solute Carrier Family 12 Member 2	Protein Coding	6.41	GeneCards inferred via : Publications (show sections)
11	SMO	Smoothened, Frizzled Class Receptor	Protein Coding	6.41	GeneCards inferred via : Publications (show sections)

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Variations for Hypothalamic Hamartomas

ClinVar genetic disease variations for Hypothalamic Hamartomas:

⁶ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	GLI3	NM_000168.6(GLI3):c.241G>A (p.Glu81Lys)	SNV	Conflicting interpretations of pathogenicity	265180	rs376725882	7:42187951-42187951	7:42148352-42148352
2	GLI3	NM_000168.6(GLI3):c.3284A>G (p.Asp1095Gly)	SNV	Uncertain significance	435332	rs1554304659	7:42005387-42005387	7:41965789-41965789
3	GLI3	NM_000168.6(GLI3):c.3118G>A (p.Glu1040Lys)	SNV	Uncertain significance	265182	rs772839719	7:42005553-42005553	7:41965955-41965955

Copy number variations for Hypothalamic Hamartomas from CNVD:

⁷

#	CNVD ID	Chromosome	Start	End	Type	Gene Symbol	CNVD Disease
1	217120	7	1	59900000	Copy number	GLI3	Hypothalamic hamartomas

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Expression for Hypothalamic Hamartomas

Search GEO for disease gene expression data for Hypothalamic Hamartomas.

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Pathways for Hypothalamic Hamartomas

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

#	Super pathways	Score	Top Affiliating Genes
1	Peptide ligand-binding receptors ⁶⁵ Show member pathways Class A/1 (Rhodopsin-like receptors) ⁶⁵ Defective AVP causes neurohypophyseal diabetes insipidus (NDI) ⁶⁵ Formyl peptide receptors bind formyl peptides and many other ligands ⁶⁵ G alpha (i) signalling events ⁶⁵ GPCR ligand binding ⁶⁵ GPCRs, Class A Rhodopsin-like ¹ Neuroactive ligand-receptor interaction ³⁶ Orexin and neuropeptides FF and QRFP bind to their respective receptors ⁶⁵ Peptide GPCRs ¹ Tachykinin receptors bind tachykinins ⁶⁵ Vasopressin-like receptors ⁶⁵	13.13	SMO KISS1R KISS1 GRM1 GNRHR GNRH1
2	Neuroscience ⁴	11.79	SLC12A5 SLC12A2 KISS1R GRM1
3	GPCRs, Other ¹	11.34	SMO GRM1 GNRHR
4	Hedgehog signaling pathway (KEGG) ³⁶	11.13	SMO GLI3
5	Hedgehog signaling events mediated by Gli proteins ¹	11.05	SMO GLI3
6	GnRH secretion ³⁶	10.61	KISS1R KISS1 GNRH1
7	Hedgehog Signaling Pathway (WikiPathways) ¹ Show member pathways GLI proteins bind promoters of Hh responsive genes to promote transcription ⁶⁵	10.6	SMO GLI3
8	Hormone ligand-binding receptors ⁶⁵	10.37	GNRHR GNRH1

Sources

GO Terms for Hypothalamic Hamartomas

Cellular components related to Hypothalamic Hamartomas according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	integral component of plasma membrane	GO:0005887	9.35	SLC12A5 SLC12A2 KISS1R GRM1 GNRHR
2	ciliary tip	GO:0097542	9.16	SMO GLI3
3	neuron projection	GO:0043005	9.02	SLC12A5 SLC12A2 KISS1 GRM1 GNRH1

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

(show all 14)

#	Name	GO ID	Score	Top Affiliating Genes
1	signal transduction	GO:0007165	9.93	TGFA SMO KISS1R GRM1 GNRHR GNRH1
2	negative regulation of apoptotic process	GO:0043066	9.71	TGFA SMO GNRH1 GLI3
3	embryonic organ development	GO:0048568	9.54	SMO GLI3
4	dorsal/ventral pattern formation	GO:0009953	9.52	SMO GLI3
5	potassium ion import across plasma membrane	GO:1990573	9.51	SLC12A5 SLC12A2
6	positive regulation of protein import into nucleus	GO:0042307	9.49	SMO GLI3
7	positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway	GO:0051482	9.48	KISS1 GRM1
8	developmental growth	GO:0048589	9.43	SMO GLI3
9	positive regulation of neuroblast proliferation	GO:0002052	9.37	SMO GLI3
10	cell volume homeostasis	GO:0006884	9.32	SLC12A5 SLC12A2
11	potassium ion homeostasis	GO:0055075	9.26	SLC12A5 SLC12A2
12	chloride ion homeostasis	GO:0055064	9.16	SLC12A5 SLC12A2
13	G protein-coupled receptor signaling pathway	GO:0007186	9.1	SMO KISS1R KISS1 GRM1 GNRHR GNRH1
14	cellular chloride ion homeostasis	GO:0030644	8.96	SLC12A5 SLC12A2

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

#	Name	GO ID	Score	Top Affiliating Genes
1	potassium:chloride symporter activity	GO:0015379	8.96	SLC12A5 SLC12A2
2	cation:chloride symporter activity	GO:0015377	8.62	SLC12A5 SLC12A2

Sources

Sources for Hypothalamic Hamartomas

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 EFO

¹⁸ ExPASy

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 HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

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 NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia