MCID: HYP231
MIFTS: 33

Hypothalamic Hamartomas

Categories: Rare diseases

Aliases & Classifications for Hypothalamic Hamartomas

MalaCards integrated aliases for Hypothalamic Hamartomas:

Name: Hypothalamic Hamartomas 20 6 70
Hamartoma of the Hypothalamus 20

Classifications:



External Ids:

UMLS 70 C0342418

Summaries for Hypothalamic Hamartomas

GARD : 20 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 the hypothalamus, is related to precocious puberty and central precocious puberty. An important gene associated with Hypothalamic Hamartomas is SMO (Smoothened, Frizzled Class Receptor), and among its related pathways/superpathways are Peptide ligand-binding receptors and Neuroscience. Affiliated tissues include hypothalamus, pituitary and temporal lobe, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

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 60)
# Related Disease Score Top Affiliating Genes
1 precocious puberty 30.5 KISS1R KISS1 GNRH1
2 central precocious puberty 30.0 KISS1R KISS1 GNRH1
3 renal hypodysplasia/aplasia 1 29.3 KISS1R GNRHR GNRH1
4 hypogonadism 28.9 KISS1R KISS1 GNRHR GNRH1
5 sensorineural hearing loss 28.8 SLC12A2 KISS1R GNRHR GNRH1
6 pallister-hall-like syndrome 11.2
7 hypothalamic hamartomas with gelastic seizures 11.2
8 pallister-hall syndrome 11.2
9 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.8
10 seizure disorder 10.7
11 epilepsy 10.6
12 diabetes insipidus 10.3
13 temporal lobe epilepsy 10.2
14 encephalopathy 10.2
15 hypothyroidism 10.2
16 isolated gonadotropin-releasing hormone deficiency 10.1 GNRHR GNRH1
17 hypogonadotropic hypogonadism 23 without anosmia 10.1 GNRHR GNRH1
18 developmental and epileptic encephalopathy 34 10.1 SLC12A5 SLC12A2
19 arachnoid cysts, intracranial 10.1
20 epilepsy, idiopathic generalized 14 10.1 SLC12A5 SLC12A2
21 agenesis of the corpus callosum with peripheral neuropathy 10.0 SLC12A5 SLC12A2
22 adrenal hypoplasia, congenital 10.0 GNRHR GNRH1
23 hypogonadotropic hypogonadism 7 with or without anosmia 10.0 GNRHR GNRH1
24 glioma susceptibility 1 9.9
25 attention deficit-hyperactivity disorder 9.9
26 anus, imperforate 9.9
27 pituitary hormone deficiency, combined, 2 9.9
28 branchiootic syndrome 1 9.9
29 polydactyly 9.9
30 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
31 cortical dysplasia, complex, with other brain malformations 10 9.9
32 periventricular nodular heterotopia 9.9
33 oppositional defiant disorder 9.9
34 cysticercosis 9.9
35 hydrocephalus 9.9
36 conduct disorder 9.9
37 status epilepticus 9.9
38 focal epilepsy 9.9
39 glioblastoma 9.9
40 malignant astrocytoma 9.9
41 mood disorder 9.9
42 pilocytic astrocytoma 9.9
43 pituitary gland disease 9.9
44 48,xyyy 9.9
45 central congenital hypothyroidism 9.9
46 congenital hypogonadotropic hypogonadism 9.9 KISS1R GNRHR
47 disorder of sexual development 9.8 KISS1 GNRHR GNRH1
48 oligospermia 9.8 GNRHR GNRH1
49 anovulation 9.8 KISS1 GNRH1
50 idiopathic central precocious puberty 9.7 KISS1R KISS1

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



Diseases related to Hypothalamic Hamartomas

Symptoms & Phenotypes for Hypothalamic Hamartomas

GenomeRNAi Phenotypes related to Hypothalamic Hamartomas according to GeneCards Suite gene sharing:

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.53 KISS1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.53 TGFA
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-137 9.53 KISS1R
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-15 9.53 KISS1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-152 9.53 TGFA
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-168 9.53 KISS1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-169 9.53 KISS1R TGFA
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 9.53 TGFA
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 9.53 KISS1R
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 9.53 KISS1R
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-205 9.53 KISS1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-57 9.53 KISS1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.53 KISS1R
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-85 9.53 TGFA
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 9.53 TGFA

MGI Mouse Phenotypes related to Hypothalamic Hamartomas:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.02 GNRH1 GNRHR GRM1 KISS1 KISS1R SLC12A2
2 digestive/alimentary MP:0005381 9.98 GNRH1 GNRHR KISS1 KISS1R SLC12A2 SMO
3 integument MP:0010771 9.92 GNRH1 GNRHR GRM1 KISS1 KISS1R SLC12A5
4 endocrine/exocrine gland MP:0005379 9.88 GNRH1 GNRHR KISS1 KISS1R SLC12A2 TGFA
5 nervous system MP:0003631 9.86 GNRH1 GRM1 INA KISS1 KISS1R SLC12A2
6 adipose tissue MP:0005375 9.85 GRM1 KISS1 KISS1R SLC12A2 TGFA
7 reproductive system MP:0005389 9.56 GNRH1 GNRHR GRM1 KISS1 KISS1R SLC12A2
8 renal/urinary system MP:0005367 9.55 GNRH1 GNRHR GRM1 KISS1 KISS1R
9 skeleton MP:0005390 9.1 GNRH1 GRM1 KISS1R SLC12A2 SMO TGFA

Drugs & Therapeutics for Hypothalamic Hamartomas

Search Clinical Trials , NIH Clinical Center for Hypothalamic Hamartomas

Genetic Tests for Hypothalamic Hamartomas

Anatomical Context for Hypothalamic Hamartomas

MalaCards organs/tissues related to Hypothalamic Hamartomas:

40
Hypothalamus, Pituitary, Temporal Lobe, Eye, Cortex, Parietal Lobe, Pineal

Publications for Hypothalamic Hamartomas

Articles related to Hypothalamic Hamartomas:

(show top 50) (show all 343)
# Title Authors PMID Year
1
A familial syndrome of hypothalamic hamartomas, polydactyly, and SMO mutations: a clinical report of 2 cases. 61 6
30497210 2018
2
Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling. 6
32413283 2020
3
Optimized SEEG-guided radiofrequency thermocoagulation in the treatment of pediatric hypothalamic hamartomas. 61
33588305 2021
4
Surgical targeting of large hypothalamic hamartomas and seizure-freedom following MR-guided laser interstitial thermal therapy. 61
33549939 2021
5
Significance of the electrophysiological border between hypothalamic hamartomas and the hypothalamus for the target of ablation surgery identified by intraoperative semimicrorecording. 61
33084060 2020
6
Hypothalamic Hamartomas: A Comprehensive Review of Literature - Part 3: Updates on Radiotherapy Management. 61
32717560 2020
7
Hypothalamic hamartomas: A comprehensive review of the literature - Part 1: Neurobiological features, clinical presentations and advancements in diagnostic tools. 61
32717559 2020
8
Hypothalamic Hamartoma, Gray Matter Heterotopia, and Polymicrogyria in a Boy: Case Report and Literature Review. 61
32711148 2020
9
Description of a giant hypothalamic hamartoma associated with an immature ruptured giant sacrococcygeal teratoma: a case report. 61
32978641 2020
10
A Simple Technique for Endoscopic Hypothalamic Hamartoma Disconnection in Refractory Epilepsy: 2-Dimensional Operative Video. 61
32243545 2020
11
Pre- and postnatal MR imaging of an asymptomatic giant hypothalamic hamartoma. 61
32577141 2020
12
Hypothalamic Hamartomas: A comprehensive review of literature - Part 2: Medical and surgical management update. 61
32663735 2020
13
A GLI3 variant leading to polydactyly in heterozygotes and Pallister-Hall-like syndrome in a homozygote. 61
32112393 2020
14
Staged Magnetic Resonance-Guided Laser Interstitial Thermal Therapy for Hypothalamic Hamartoma: Analysis of Ablation Volumes and Morphological Considerations. 61
31990344 2020
15
Hypothalamic Hamartoma and Endocrinopathy: A Neurosurgeon's Perspective. 61
32611907 2020
16
Surgical treatment of hypothalamic hamartomas. 61
32318922 2020
17
Laser interstitial thermotherapy (LiTT) in pediatric epilepsy surgery. 61
30591281 2020
18
Transtemporal approach to hypothalamic hamartomas in children: report of 3 cases. 61
32109874 2020
19
Seizure outcome and prognostic factors for surgical management of hypothalamic hamartomas in children. 61
31865135 2020
20
Glucose Metabolism Characteristics of Extra-Hypothalamic Cortex in Patients With Hypothalamic Hamartomas (HH) Undergoing Epilepsy Evaluation: A Retrospective Study of 16 Cases. 61
33519673 2020
21
Successful Endoscopic Disconnection for Hypothalamic Hamartomas in a Child with Gelastic Seizures: An Unusual Case in a Resource-Scare Setting. 61
33061665 2020
22
One-Stage High-Density Focal Stereo-Array SEEG-Guided Radiofrequency Thermocoagulation for the Treatment of Pediatric Giant Hypothalamic Hamartomas. 61
32982954 2020
23
Hypothalamic hamartomas and inner ear diverticula with X-linked stapes gusher syndrome - new associations? 61
31440883 2020
24
Hamartoma of hypothalamus presented as precocious puberty and epilepsy in a 10-year-old girl. 61
33166813 2020
25
Gender-related differences in etiology of organic central precocious puberty. 61
33108078 2020
26
Neuropsychiatric profile of paediatric hypothalamic hamartoma: systematic review and case series. 61
30977116 2019
27
Laser thermal ablation in epilepsy. 61
31385545 2019
28
Hypothalamic hamartomas in adulthood: Clinical spectrum and treatment outcome-A unicenter experience. 61
31578831 2019
29
A rare concurrence: gelastic seizures in a patient with right temporal nongalenic pial arteriovenous fistula. 61
30783755 2019
30
Malformations of cortical development: New surgical advances. 61
30819503 2019
31
Improvement of Hypothalamic Hamartoma-Related Psychiatric Disorder After Stereotactic Laser Ablation: Case Report and Review of Literature. 61
30481631 2019
32
Stereoelectroencephalography in epilepsy, cognitive neurophysiology, and psychiatric disease: safety, efficacy, and place in therapy. 61
31303757 2019
33
Magnetic Resonance Imaging-Guided Laser Interstitial Thermal Therapy for the Treatment of Hypothalamic Hamartomas: A Retrospective Review. 61
29346599 2018
34
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
35
Inappropriate Laughter and Behaviours: How, What, and Why? Case of an Adult with Undiagnosed Gelastic Seizure with Hypothalamic Hamartoma. 61
30533284 2018
36
Distinct temporal requirements for Sonic hedgehog signaling in development of the tuberal hypothalamus. 61
30291164 2018
37
Correction to: Open resection of hypothalamic hamartomas for intractable epilepsy revisited, using intraoperative MRI. 61
30027455 2018
38
Open resection of hypothalamic hamartomas for intractable epilepsy revisited, using intraoperative MRI. 61
29752488 2018
39
CyberKnife® Radiosurgery as First-line Treatment for Catastrophic Epilepsy Caused by Hypothalamic Hamartoma. 61
30221096 2018
40
Stereoelectroencephalography-Guided Radiofrequency Thermocoagulation for Hypothalamic Hamartomas: Preliminary Evidence. 61
29605700 2018
41
Radiofrequency-thermoablation: General principle, historical overview and modern applications for epilepsy. 61
29627122 2018
42
Laser ablative therapy of sessile hypothalamic hamartomas in children using interventional MRI: report of 5 cases. 61
29451455 2018
43
Congenital Hypothalamic "Hamartoblastoma" Versus "Hamartoma": Suggestions for Neuropathologic Terminology Emanating From a Mid-gestational Autopsy Case of Pallister-Hall Syndrome. 61
28429635 2018
44
MR-guided laser ablation for the treatment of hypothalamic hamartomas. 61
29631919 2018
45
MR-Guided Laser Interstitial Thermal Therapy for Medically Refractory Lesional Epilepsy in Pediatric Patients: Experience and Outcomes. 61
30110689 2018
46
Hypothalamic hamartoma presenting with infantile spasms. 61
28762039 2017
47
Radiosurgery for epilepsy: Systematic review and International Stereotactic Radiosurgery Society (ISRS) practice guideline. 61
28939289 2017
48
Management of Epilepsy Due to Hypothalamic Hamartomas. 61
28886982 2017
49
Pure endoscopic management of epileptogenic hypothalamic hamartomas. 61
28168619 2017
50
Laser Interstitial Thermal Therapy for Epilepsy. 61
28699085 2017

Variations for Hypothalamic Hamartomas

ClinVar genetic disease variations for Hypothalamic Hamartomas:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SMO NM_005631.5(SMO):c.2291_2292del (p.Gln764fs) Deletion Pathogenic 975032 GRCh37: 7:128852219-128852220
GRCh38: 7:129212378-129212379
2 SMO NM_005631.5(SMO):c.781C>T (p.Arg261Cys) SNV Pathogenic 975033 GRCh37: 7:128845484-128845484
GRCh38: 7:129205643-129205643
3 SMO NM_005631.5(SMO):c.1339G>T (p.Glu447Ter) SNV Pathogenic 975034 GRCh37: 7:128848674-128848674
GRCh38: 7:129208833-129208833
4 SMO NM_005631.5(SMO):c.1727G>A (p.Arg576Gln) SNV Pathogenic 975035 GRCh37: 7:128850880-128850880
GRCh38: 7:129211039-129211039
5 SMO NM_005631.5(SMO):c.1726C>T (p.Arg576Trp) SNV Pathogenic 975036 GRCh37: 7:128850879-128850879
GRCh38: 7:129211038-129211038
6 SMO NM_005631.5(SMO):c.1285A>T (p.Ile429Phe) SNV Pathogenic 975037 GRCh37: 7:128848620-128848620
GRCh38: 7:129208779-129208779
7 SMO NM_005631.5(SMO):c.754T>C (p.Phe252Leu) SNV Likely pathogenic 982409 GRCh37: 7:128845457-128845457
GRCh38: 7:129205616-129205616
8 SMO NM_005631.5(SMO):c.1198C>T (p.Arg400Cys) SNV Likely pathogenic 982410 GRCh37: 7:128846362-128846362
GRCh38: 7:129206521-129206521
9 GLI3 NM_000168.6(GLI3):c.3284A>G (p.Asp1095Gly) SNV Uncertain significance 435332 rs1554304659 GRCh37: 7:42005387-42005387
GRCh38: 7:41965789-41965789
10 GLI3 NM_000168.6(GLI3):c.3118G>A (p.Glu1040Lys) SNV Uncertain significance 265182 rs772839719 GRCh37: 7:42005553-42005553
GRCh38: 7:41965955-41965955
11 GLI3 NM_000168.6(GLI3):c.241G>A (p.Glu81Lys) SNV Uncertain significance 265180 rs376725882 GRCh37: 7:42187951-42187951
GRCh38: 7:42148352-42148352

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 neuron projection GO:0043005 9.02 SLC12A5 SLC12A2 KISS1 GRM1 GNRH1

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

# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.85 TGFA SMO KISS1R GRM1 GNRHR GNRH1
2 positive regulation of epithelial cell proliferation GO:0050679 9.43 TGFA SMO
3 potassium ion import across plasma membrane GO:1990573 9.4 SLC12A5 SLC12A2
4 cell volume homeostasis GO:0006884 9.32 SLC12A5 SLC12A2
5 potassium ion homeostasis GO:0055075 9.26 SLC12A5 SLC12A2
6 chloride ion homeostasis GO:0055064 9.16 SLC12A5 SLC12A2
7 G protein-coupled receptor signaling pathway GO:0007186 9.1 SMO KISS1R KISS1 GRM1 GNRHR GNRH1
8 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 G protein-coupled receptor activity GO:0004930 9.46 SMO KISS1R GRM1 GNRHR
2 potassium:chloride symporter activity GO:0015379 8.96 SLC12A5 SLC12A2
3 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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