MCID: HYP231
MIFTS: 48

Hypothalamic Hamartomas

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Hypothalamic Hamartomas

MalaCards integrated aliases for Hypothalamic Hamartomas:

Name: Hypothalamic Hamartomas 57 76 53 73
Hypothalamic Hamartomas, Somatic 57 13
Hamartoma of Hypothalamus 29 40
Hamartoma of the Hypothalamus 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
hypothalamic hamartomas:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hypothalamic Hamartomas

NIH Rare Diseases : 53 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 hypothalamic hamartomas, somatic, 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 Neuroscience and Hormone ligand-binding receptors. The drug Menthol has been mentioned in the context of this disorder. Affiliated tissues include hypothalamus, heart and brain, and related phenotypes are micropenis and renal dysplasia

Wikipedia : 76 Tuber cinereum hamartoma (also known as hypothalamic hamartoma) is a benign tumor in which a... more...

Description from OMIM: 241800

Related Diseases for Hypothalamic Hamartomas

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

(show all 48)
# Related Disease Score Top Affiliating Genes
1 precocious puberty 29.9 GNRH1 KISS1 KISS1R
2 central precocious puberty 29.7 GNRH1 KISS1 KISS1R
3 hypothalamic hamartomas with gelastic seizures 12.1
4 pallister-hall syndrome 11.8
5 culler-jones syndrome 11.0
6 polydactyly cleft lip palate psychomotor retardation 11.0
7 epilepsy 10.6
8 neuronitis 10.1
9 polydactyly 10.0
10 agenesis of the corpus callosum with peripheral neuropathy 10.0 SLC12A2 SLC12A5
11 lennox-gastaut syndrome 9.9
12 arachnoiditis 9.9
13 infantile epileptic encephalopathy 9.9
14 arachnoid cysts 9.9
15 idiopathic central precocious puberty 9.8 KISS1 KISS1R
16 papilledema 9.8
17 neurofibromatosis, type i 9.7
18 neurofibromatosis, type iv, of riccardi 9.7
19 renal hypodysplasia/aplasia 1 9.7
20 lipoid congenital adrenal hyperplasia 9.7
21 anus, imperforate 9.7
22 autism 9.7
23 cerebellar hypoplasia 9.7
24 mckusick-kaufman syndrome 9.7
25 corpus callosum, partial agenesis of, x-linked 9.7
26 hyperprolactinemia 9.7
27 hydrocephalus 9.7
28 temporal lobe epilepsy 9.7
29 nasopharyngitis 9.7
30 estrogen excess 9.7
31 astrocytoma 9.7
32 teratoma 9.7
33 cerebritis 9.7
34 pilocytic astrocytoma 9.7
35 ganglioglioma 9.7
36 juvenile pilocytic astrocytoma 9.7
37 growth hormone deficiency 9.7
38 encephalopathy 9.7
39 hypersomnia 9.7
40 hypogonadotropic hypogonadism 23 without anosmia 9.5 GNRH1 GNRHR
41 hypogonadotropic hypogonadism 7 with or without anosmia 9.4 GNRH1 GNRHR
42 reproductive system disease 9.2 GNRH1 KISS1
43 hypogonadotropism 8.5 GNRH1 GNRHR KISS1 KISS1R
44 normosmic congenital hypogonadotropic hypogonadism 8.5 GNRH1 GNRHR KISS1 KISS1R
45 gonadal disease 8.5 GNRH1 GNRHR KISS1 KISS1R
46 hypogonadotropic hypogonadism 8.5 GNRH1 GNRHR KISS1 KISS1R
47 hypogonadism 8.4 GNRH1 GNRHR KISS1 KISS1R
48 kallmann syndrome 8.4 GNRH1 GNRHR KISS1 KISS1R

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



Diseases related to Hypothalamic Hamartomas

Symptoms & Phenotypes for Hypothalamic Hamartomas

Symptoms via clinical synopsis from OMIM:

57
HEENT:
macrocephaly
short nose
cleft palate
micrognathia
microglossia
more
Skel:
skeletal dysplasia
micromelia
short ribs
postaxial polydactyly
dislocated hips

Lung:
pulmonary hypoplasia

Cardiac:
congenital heart defect

Neuro:
hydrocephalus
hypothalamic hamartoma
brain stem glioma
posterior encephalocele

GU:
micropenis
renal dysplasia

Endo:
hypopituitarism

Misc:
infantile death usual


Clinical features from OMIM:

241800

Human phenotypes related to Hypothalamic Hamartomas:

32 (show all 22)
# Description HPO Frequency HPO Source Accession
1 micropenis 32 HP:0000054
2 renal dysplasia 32 HP:0000110
3 median cleft lip 32 HP:0000161
4 microglossia 32 HP:0000171
5 cleft palate 32 HP:0000175
6 hydrocephalus 32 HP:0000238
7 macrocephaly 32 HP:0000256
8 micrognathia 32 HP:0000347
9 short ribs 32 HP:0000773
10 anterior hypopituitarism 32 HP:0000830
11 postaxial hand polydactyly 32 HP:0001162
12 abnormal heart morphology 32 HP:0001627
13 occipital encephalocele 32 HP:0002085
14 pulmonary hypoplasia 32 HP:0002089
15 hypothalamic hamartoma 32 HP:0002444
16 skeletal dysplasia 32 HP:0002652
17 hip dislocation 32 HP:0002827
18 micromelia 32 HP:0002983
19 short nose 32 HP:0003196
20 depressed nasal bridge 32 HP:0005280
21 glioma 32 HP:0009733
22 abnormality of cardiovascular system morphology 32 HP:0030680

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

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.47 KISS1 KISS1R
2 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.47 KISS1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.47 KISS1R
4 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.47 TGFA
5 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.47 KISS1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.47 KISS1 KISS1R TGFA
7 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.47 KISS1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.47 KISS1R
9 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.47 KISS1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.47 KISS1R
11 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.47 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 GLI3 GNRH1 GNRHR GRM1 KISS1 KISS1R
2 digestive/alimentary MP:0005381 9.98 TGFA GLI3 GNRH1 GNRHR KISS1 KISS1R
3 endocrine/exocrine gland MP:0005379 9.95 GLI3 GNRH1 GNRHR KISS1 KISS1R SLC12A2
4 integument MP:0010771 9.92 GLI3 GNRH1 GNRHR GRM1 KISS1 KISS1R
5 nervous system MP:0003631 9.86 SLC12A2 SLC12A5 GLI3 GNRH1 GRM1 INA
6 adipose tissue MP:0005375 9.85 KISS1R SLC12A2 TGFA GRM1 KISS1
7 renal/urinary system MP:0005367 9.63 GLI3 GNRH1 GNRHR GRM1 KISS1 KISS1R
8 reproductive system MP:0005389 9.61 GLI3 GNRH1 GNRHR GRM1 KISS1 KISS1R
9 skeleton MP:0005390 9.1 GLI3 GNRH1 GRM1 KISS1R SLC12A2 TGFA

Drugs & Therapeutics for Hypothalamic Hamartomas

Drugs for Hypothalamic Hamartomas (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Menthol Approved 2216-51-5 16666

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Disturbance of Water and Sodium Metabolism After Surgery of Sellar Lesions, and Correspond Clinical Strategy Unknown status NCT01406041
2 Phenotype and Etiology of Pallister-Hall Syndrome Completed NCT00001404

Search 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:

41
Hypothalamus, Heart, Brain, Pituitary, Temporal Lobe

Publications for Hypothalamic Hamartomas

Articles related to Hypothalamic Hamartomas:

(show top 50) (show all 202)
# Title Authors Year
1
Stereoelectroencephalography-Guided Radiofrequency Thermocoagulation for Hypothalamic Hamartomas: Preliminary Evidence. ( 29605700 )
2018
2
Laser ablative therapy of sessile hypothalamic hamartomas in children using interventional MRI: report of 5 cases. ( 29451455 )
2018
3
A novel use of the NeuroBlate SideFire probe for minimally invasive disconnection of a hypothalamic hamartoma in a child with gelastic seizures. ( 29328005 )
2018
4
Open resection of hypothalamic hamartomas for intractable epilepsy revisited, using intraoperative MRI. ( 29752488 )
2018
5
MR-guided laser ablation for the treatment of hypothalamic hamartomas. ( 29631919 )
2018
6
Magnetic Resonance Imaging-Guided Laser Interstitial Thermal Therapy for the Treatment of Hypothalamic Hamartomas: A Retrospective Review. ( 29346599 )
2018
7
Cognition in epilepsy patients with hypothalamic hamartomas. ( 28591483 )
2017
8
Long-term Outcomes of Patients with Central Precocious Puberty due to Hypothalamic Hamartoma After GnRH Analog Treatment: Anthropometric, Metabolic and Reproductive Aspects. ( 28558376 )
2017
9
Reduced glucose metabolism in neocortical network nodes remote from hypothalamic hamartomas reflects cognitive impairment. ( 28591477 )
2017
10
Management of Epilepsy Due to Hypothalamic Hamartomas. ( 28886982 )
2017
11
Letter to the Editor. Stereotactic laser ablation for hypothalamic hamartomas after SRS failure. ( 28463619 )
2017
12
Safety and efficacy of Gamma Knife radiosurgery in hypothalamic hamartomas with severe epilepsies: A prospective trial in 48 patients and review of the literature. ( 28591484 )
2017
13
Endoscopic Treatment of Hypothalamic Hamartomas. ( 28490155 )
2017
14
Ca(2+) -permeable AMPA receptors associated with epileptogenesis of hypothalamic hamartoma. ( 28195308 )
2017
15
Pure endoscopic management of epileptogenic hypothalamic hamartomas. ( 28168619 )
2017
16
Achieving a cure for hypothalamic hamartomas: aA Sisyphean quest? ( 28591481 )
2017
17
MRI-guided stereotactic radiofrequency thermocoagulation for 100 hypothalamic hamartomas. ( 26587652 )
2016
18
Gap Junctions Contribute to Ictal/Interictal Genesis in Human Hypothalamic Hamartomas. ( 27428422 )
2016
19
Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy. ( 27453577 )
2016
20
Editorial: Hypothalamic hamartomas. ( 26587659 )
2016
21
Central precocious puberty due to hypothalamic hamartoma in neurofibromatosis type 1. ( 26732170 )
2016
22
Magnetic resonance imaging-guided laser interstitial thermal therapy for previously treated hypothalamic hamartomas. ( 27690651 )
2016
23
Use of Gonadotropin-Releasing Hormone for Intractable Seizures in a Girl with Precocious Puberty without Hypothalamic Hamartoma. ( 27156180 )
2016
24
Lesion guided radiofrequency thermocoagulation (L-RFTC) for hypothalamic hamartomas, nodular heterotopias and cortical dysplasias: Review and perspective. ( 27282837 )
2016
25
Stereotactic Laser Ablation for Hypothalamic Hamartoma. ( 26615108 )
2016
26
An 11-month-old girl with central precocious puberty caused by hypothalamic hamartoma. ( 28164078 )
2016
27
ADHD-like behavior in a patient with hypothalamic hamartoma. ( 26028458 )
2016
28
Gelastic epilepsy: Beyond hypothalamic hamartomas. ( 27195219 )
2015
29
Memory outcome one year after stereotactic interstitial radiosurgery in patients with epilepsy due to hypothalamic hamartomas. ( 25062290 )
2014
30
Hope for hypothalamic hamartomas--cofounders stories. ( 24621194 )
2014
31
Unusual presentation of hypothalamic hamartoma with hypersomnia in an adult patient. ( 25042667 )
2014
32
Clinical characteristics and long-term outcome of surgery for hypothalamic hamartoma in children with refractory epilepsy. ( 24753658 )
2014
33
A case of central precocious puberty due to concomitant hypothalamic hamartoma and juvenile pilocytic astrocytoma. ( 25241615 )
2014
34
Endoscopic disconnection of hypothalamic hamartomas: safety and feasibility of robot-assisted, thulium laser-based procedures. ( 25325417 )
2014
35
Hypothalamic hamartoma associated with central precocious puberty and growth hormone deficiency. ( 23934638 )
2014
36
Intraoperative use of high-field MRI in hypothalamic hamartomas associated with epilepsy: clinico-pathological presentation of five adult patients. ( 25085541 )
2014
37
First description of pharmacoresistant epilepsy due to independent bilateral hypothalamic hamartomas. ( 25391975 )
2014
38
Combined open microsurgical and endoscopic resection of hypothalamic hamartomas. ( 23521152 )
2013
39
Gelastic epilepsy in combination with hypothalamic hamartoma and partial agenesis of the corpus callosum: A case report and review of the literature. ( 24255688 )
2013
40
Electroconvulsive therapy for psychosis in a patient with epilepsy related to hypothalamic hamartoma. ( 23899761 )
2013
41
Gelastic seizures due to hypothalamic hamartoma: rapid resolution after endoscopic tumor disconnection. ( 22823743 )
2013
42
Hypothalamic hamartomas. Part 2. Surgical considerations and outcome. ( 23724841 )
2013
43
Hypothalamic hamartomas: Optimal approach to clinical evaluation and diagnosis. ( 24328883 )
2013
44
Giant hypothalamic hamartoma: case report and literature review. ( 23314738 )
2013
45
Complete and curative excision of hypothalamic hamartomas via the orbito-zygomatic approach. ( 24441357 )
2013
46
Hypothalamic hamartomas. Part 1. Clinical, neuroimaging, and neurophysiological characteristics. ( 23724840 )
2013
47
Surgical treatment of hypothalamic hamartoma causing central precocious puberty: long-term follow-up. ( 23746126 )
2013
48
Asymptomatic hydrocephalus and subdural hygroma after successful resection of hypothalamic hamartoma with central precocious puberty. ( 23786962 )
2013
49
Hypothalamic hamartomas. ( 23521154 )
2013
50
Severe Pallister-Hall syndrome with persistent urogenital sinus, renal agenesis, imperforate anus, bilateral hypothalamic hamartomas, and severe skeletal anomalies. ( 23950073 )
2013

Variations for Hypothalamic Hamartomas

Copy number variations for Hypothalamic Hamartomas from CNVD:

7
# CNVD ID Chromosom 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

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

# Super pathways Score Top Affiliating Genes
1 11.46 GRM1 KISS1R SLC12A2 SLC12A5
2 10.07 GNRH1 GNRHR

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 9.1 GNRHR GRM1 KISS1R SLC12A2 SLC12A5 TGFA

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

# Name GO ID Score Top Affiliating Genes
1 G-protein coupled receptor signaling pathway GO:0007186 9.65 GNRH1 GNRHR GRM1 KISS1 KISS1R
2 potassium ion import GO:0010107 9.37 SLC12A2 SLC12A5
3 positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway GO:0051482 9.32 GRM1 KISS1
4 cell volume homeostasis GO:0006884 9.16 SLC12A2 SLC12A5
5 potassium ion homeostasis GO:0055075 8.96 SLC12A2 SLC12A5
6 chloride ion homeostasis GO:0055064 8.62 SLC12A2 SLC12A5

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 SLC12A2 SLC12A5
2 cation:chloride symporter activity GO:0015377 8.62 SLC12A2 SLC12A5

Sources for Hypothalamic Hamartomas

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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