MCID: HYP231
MIFTS: 46

Hypothalamic Hamartomas

Categories: Fetal diseases, Genetic diseases, Rare diseases

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:



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

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:



Diseases related to Hypothalamic Hamartomas

Symptoms & Phenotypes for Hypothalamic Hamartomas

Human phenotypes related to Hypothalamic Hamartomas:

31 (show all 22)
# Description HPO Frequency 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

Drugs & Therapeutics for Hypothalamic Hamartomas

Search Clinical Trials , NIH Clinical Center for Hypothalamic Hamartomas

Genetic Tests for Hypothalamic Hamartomas

Genetic tests related to Hypothalamic Hamartomas:

# Genetic test Affiliating Genes
1 Hamartoma of Hypothalamus 29 GLI3

Anatomical Context for Hypothalamic Hamartomas

MalaCards organs/tissues related to Hypothalamic Hamartomas:

40
Hypothalamus, Brain, Heart, Pituitary, Eye, Parietal Lobe, Temporal Lobe

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
18252217 2008
2
Congenital hypothalamic hamartoma syndrome: nosological discussion and minimum diagnostic criteria of a possibly familial form. 56 61
1308364 1992
3
Hamartoma of the hypothalamus; report of two cases with associated developmental defects. 56
13085273 1953
4
Pre- and postnatal MR imaging of an asymptomatic giant hypothalamic hamartoma. 61
32577141 2020
5
A GLI3 variant leading to polydactyly in heterozygotes and Pallister-Hall-like syndrome in a homozygote. 61
32112393 2020
6
Staged Magnetic Resonance-Guided Laser Interstitial Thermal Therapy for Hypothalamic Hamartoma: Analysis of Ablation Volumes and Morphological Considerations. 61
31990344 2020
7
Surgical treatment of hypothalamic hamartomas. 61
32318922 2020
8
A Simple Technique for Endoscopic Hypothalamic Hamartoma Disconnection in Refractory Epilepsy: 2-Dimensional Operative Video. 61
32243545 2020
9
Laser interstitial thermotherapy (LiTT) in pediatric epilepsy surgery. 61
30591281 2020
10
Transtemporal approach to hypothalamic hamartomas in children: report of 3 cases. 61
32109874 2020
11
Seizure outcome and prognostic factors for surgical management of hypothalamic hamartomas in children. 61
31865135 2020
12
Hypothalamic hamartomas and inner ear diverticula with X-linked stapes gusher syndrome - new associations? 61
31440883 2020
13
Neuropsychiatric profile of paediatric hypothalamic hamartoma: systematic review and case series. 61
30977116 2019
14
Laser thermal ablation in epilepsy. 61
31385545 2019
15
Hypothalamic hamartomas in adulthood: Clinical spectrum and treatment outcome-A unicenter experience. 61
31578831 2019
16
A rare concurrence: gelastic seizures in a patient with right temporal nongalenic pial arteriovenous fistula. 61
30783755 2019
17
Malformations of cortical development: New surgical advances. 61
30819503 2019
18
Improvement of Hypothalamic Hamartoma-Related Psychiatric Disorder After Stereotactic Laser Ablation: Case Report and Review of Literature. 61
30481631 2019
19
Stereoelectroencephalography in epilepsy, cognitive neurophysiology, and psychiatric disease: safety, efficacy, and place in therapy. 61
31303757 2019
20
Inappropriate Laughter and Behaviours: How, What, and Why? Case of an Adult with Undiagnosed Gelastic Seizure with Hypothalamic Hamartoma. 61
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
30450772 2018
22
Magnetic Resonance Imaging-Guided Laser Interstitial Thermal Therapy for the Treatment of Hypothalamic Hamartomas: A Retrospective Review. 61
29346599 2018
23
Distinct temporal requirements for Sonic hedgehog signaling in development of the tuberal hypothalamus. 61
30291164 2018
24
A familial syndrome of hypothalamic hamartomas, polydactyly, and SMO mutations: a clinical report of 2 cases. 61
30497210 2018
25
Correction to: Open resection of hypothalamic hamartomas for intractable epilepsy revisited, using intraoperative MRI. 61
30027455 2018
26
Open resection of hypothalamic hamartomas for intractable epilepsy revisited, using intraoperative MRI. 61
29752488 2018
27
CyberKnife® Radiosurgery as First-line Treatment for Catastrophic Epilepsy Caused by Hypothalamic Hamartoma. 61
30221096 2018
28
Stereoelectroencephalography-Guided Radiofrequency Thermocoagulation for Hypothalamic Hamartomas: Preliminary Evidence. 61
29605700 2018
29
Laser ablative therapy of sessile hypothalamic hamartomas in children using interventional MRI: report of 5 cases. 61
29451455 2018
30
Radiofrequency-thermoablation: General principle, historical overview and modern applications for epilepsy. 61
29627122 2018
31
MR-guided laser ablation for the treatment of hypothalamic hamartomas. 61
29631919 2018
32
Congenital Hypothalamic "Hamartoblastoma" Versus "Hamartoma": Suggestions for Neuropathologic Terminology Emanating From a Mid-gestational Autopsy Case of Pallister-Hall Syndrome. 61
28429635 2018
33
MR-Guided Laser Interstitial Thermal Therapy for Medically Refractory Lesional Epilepsy in Pediatric Patients: Experience and Outcomes. 61
30110689 2018
34
Hypothalamic hamartoma presenting with infantile spasms. 61
28762039 2017
35
Radiosurgery for epilepsy: Systematic review and International Stereotactic Radiosurgery Society (ISRS) practice guideline. 61
28939289 2017
36
Management of Epilepsy Due to Hypothalamic Hamartomas. 61
28886982 2017
37
Pure endoscopic management of epileptogenic hypothalamic hamartomas. 61
28168619 2017
38
Laser Interstitial Thermal Therapy for Epilepsy. 61
28699085 2017
39
Pallister-Hall Syndrome. 61
29204208 2017
40
Hypothalamic hamartoma: Neuropathology and epileptogenesis. 61
28591478 2017
41
Reduced glucose metabolism in neocortical network nodes remote from hypothalamic hamartomas reflects cognitive impairment. 61
28591477 2017
42
Cognition in epilepsy patients with hypothalamic hamartomas. 61
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
28591484 2017
44
Achieving a cure for hypothalamic hamartomas: a Sisyphean quest? 61
28591481 2017
45
Letter to the Editor. Stereotactic laser ablation for hypothalamic hamartomas after SRS failure. 61
28463619 2017
46
Neuroendoscopy: Current and Future Perspectives. 61
28490159 2017
47
Endoscopic Treatment of Hypothalamic Hamartomas. 61
28490155 2017
48
Complication avoidance in laser interstitial thermal therapy: lessons learned. 61
27257839 2017
49
Successful surgical management of New Onset Refractory Status Epilepticus (NORSE) presenting with gelastic seizures in a 3 year old girl. 61
28725554 2017
50
Giant Hypothalamic Hamartoma in an Infant: A Case Report and Review of the Literature. 61
27780163 2017

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

Expression for Hypothalamic Hamartomas

Search GEO for disease gene expression data for Hypothalamic Hamartomas.

Pathways for Hypothalamic Hamartomas

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 for Hypothalamic Hamartomas

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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