MCID: HYP231
MIFTS: 47

Hypothalamic Hamartomas

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Hypothalamic Hamartomas

MalaCards integrated aliases for Hypothalamic Hamartomas:

Name: Hypothalamic Hamartomas 58 77 54 74
Hamartoma of Hypothalamus 30 6 41
Hypothalamic Hamartomas, Somatic 58 13
Hamartoma of the Hypothalamus 54

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
hypothalamic hamartomas:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hypothalamic Hamartomas

NIH Rare Diseases : 54 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, heart and brain, and related phenotypes are macrocephaly and hydrocephalus

Wikipedia : 77 Tuber cinereum hamartoma is a benign tumor in which a disorganized collection of neurons and glia... 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 top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 precocious puberty 30.8 GNRH1 KISS1 KISS1R
2 central precocious puberty 30.3 GNRH1 KISS1 KISS1R
3 pallister-hall syndrome 12.3
4 hypothalamic hamartomas with gelastic seizures 12.3
5 orofaciodigital syndrome vi 11.2
6 culler-jones syndrome 11.2
7 congenital heart defects, hamartomas of tongue, and polysyndactyly 11.1
8 epilepsy 10.9
9 arachnoid cysts 10.3
10 seizure disorder 10.3
11 polydactyly 10.2
12 west syndrome 10.2
13 orofaciodigital syndrome 10.1
14 encephalopathy 10.1
15 neurofibromatosis, type i 10.0
16 neurofibromatosis, type iv, of riccardi 10.0
17 fryns microphthalmia syndrome 10.0
18 lennox-gastaut syndrome 10.0
19 idiopathic central precocious puberty 10.0 KISS1 KISS1R
20 papilledema 9.9
21 polydactyly, postaxial, type a1 9.9
22 renal hypodysplasia/aplasia 1 9.9
23 lipoid congenital adrenal hyperplasia 9.9
24 anus, imperforate 9.9
25 autism 9.9
26 cerebellar hypoplasia 9.9
27 mckusick-kaufman syndrome 9.9
28 corpus callosum, partial agenesis of, x-linked 9.9
29 orofaciodigital syndrome i 9.9
30 hyperprolactinemia 9.9
31 arteriovenous fistula 9.9
32 hydrocephalus 9.9
33 temporal lobe epilepsy 9.9
34 estrogen excess 9.9
35 astrocytoma 9.9
36 teratoma 9.9
37 movement disease 9.9
38 juvenile pilocytic astrocytoma 9.9
39 waardenburg's syndrome 9.9
40 pathologic nystagmus 9.9
41 congenital hydrocephalus 9.9
42 dandy-walker complex 9.9
43 growth hormone deficiency 9.9
44 pilocytic astrocytoma 9.9
45 hypersomnia 9.9
46 hypogonadotropic hypogonadism 23 without anosmia 9.8 GNRH1 GNRHR
47 hypogonadotropic hypogonadism 7 with or without anosmia 9.7 GNRH1 GNRHR
48 amyotrophic lateral sclerosis 1 9.5 GLI3 GRM1 INA
49 hypogonadotropism 9.5 GNRH1 GNRHR KISS1 KISS1R
50 normosmic congenital hypogonadotropic hypogonadism 9.5 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

Human phenotypes related to Hypothalamic Hamartomas:

33 (show all 22)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 33 HP:0000256
2 hydrocephalus 33 HP:0000238
3 skeletal dysplasia 33 HP:0002652
4 depressed nasal bridge 33 HP:0005280
5 short nose 33 HP:0003196
6 cleft palate 33 HP:0000175
7 micrognathia 33 HP:0000347
8 micromelia 33 HP:0002983
9 anterior hypopituitarism 33 HP:0000830
10 hip dislocation 33 HP:0002827
11 postaxial hand polydactyly 33 HP:0001162
12 micropenis 33 HP:0000054
13 pulmonary hypoplasia 33 HP:0002089
14 abnormality of cardiovascular system morphology 33 HP:0030680
15 median cleft lip 33 HP:0000161
16 occipital encephalocele 33 HP:0002085
17 renal dysplasia 33 HP:0000110
18 abnormal heart morphology 33 HP:0001627
19 microglossia 33 HP:0000171
20 short ribs 33 HP:0000773
21 hypothalamic hamartoma 33 HP:0002444
22 glioma 33 HP:0009733

Symptoms via clinical synopsis from OMIM:

58
H E E N T:
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

G U:
micropenis
renal dysplasia

Endo:
hypopituitarism

Misc:
infantile death usual

Clinical features from OMIM:

241800

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

27 (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:

47
# 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 GLI3 GNRH1 GNRHR KISS1 KISS1R SLC12A2
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 GLI3 GNRH1 GRM1 INA KISS1 KISS1R
6 adipose tissue MP:0005375 9.85 GRM1 KISS1 KISS1R SLC12A2 TGFA
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

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 30 GLI3

Anatomical Context for Hypothalamic Hamartomas

MalaCards organs/tissues related to Hypothalamic Hamartomas:

42
Hypothalamus, Heart, Brain, Tongue, Temporal Lobe

Publications for Hypothalamic Hamartomas

Articles related to Hypothalamic Hamartomas:

(show top 50) (show all 126)
# Title Authors Year
1
Correction to: Open resection of hypothalamic hamartomas for intractable epilepsy revisited, using intraoperative MRI. ( 30027455 )
2018
2
Open resection of hypothalamic hamartomas for intractable epilepsy revisited, using intraoperative MRI. ( 29752488 )
2018
3
Magnetic Resonance Imaging-Guided Laser Interstitial Thermal Therapy for the Treatment of Hypothalamic Hamartomas: A Retrospective Review. ( 29346599 )
2018
4
Laser ablative therapy of sessile hypothalamic hamartomas in children using interventional MRI: report of 5 cases. ( 29451455 )
2018
5
Stereoelectroencephalography-Guided Radiofrequency Thermocoagulation for Hypothalamic Hamartomas: Preliminary Evidence. ( 29605700 )
2018
6
MR-guided laser ablation for the treatment of hypothalamic hamartomas. ( 29631919 )
2018
7
A familial syndrome of hypothalamic hamartomas, polydactyly, and SMO mutations: a clinical report of 2 cases. ( 30497210 )
2018
8
Pure endoscopic management of epileptogenic hypothalamic hamartomas. ( 28168619 )
2017
9
Letter to the Editor. Stereotactic laser ablation for hypothalamic hamartomas after SRS failure. ( 28463619 )
2017
10
Endoscopic Treatment of Hypothalamic Hamartomas. ( 28490155 )
2017
11
Reduced glucose metabolism in neocortical network nodes remote from hypothalamic hamartomas reflects cognitive impairment. ( 28591477 )
2017
12
Achieving a cure for hypothalamic hamartomas: a Sisyphean quest? ( 28591481 )
2017
13
Cognition in epilepsy patients with hypothalamic hamartomas. ( 28591483 )
2017
14
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
15
Management of Epilepsy Due to Hypothalamic Hamartomas. ( 28886982 )
2017
16
MRI-guided stereotactic radiofrequency thermocoagulation for 100 hypothalamic hamartomas. ( 26587652 )
2016
17
Editorial: Hypothalamic hamartomas. ( 26587659 )
2016
18
Lesion guided radiofrequency thermocoagulation (L-RFTC) for hypothalamic hamartomas, nodular heterotopias and cortical dysplasias: Review and perspective. ( 27282837 )
2016
19
Gap Junctions Contribute to Ictal/Interictal Genesis in Human Hypothalamic Hamartomas. ( 27428422 )
2016
20
Magnetic resonance imaging-guided laser interstitial thermal therapy for previously treated hypothalamic hamartomas. ( 27690651 )
2016
21
First description of pharmacoresistant epilepsy due to independent bilateral hypothalamic hamartomas. ( 25391975 )
2015
22
Gelastic epilepsy: Beyond hypothalamic hamartomas. ( 27195219 )
2015
23
Hope for hypothalamic hamartomas--cofounders stories. ( 24621194 )
2014
24
Memory outcome one year after stereotactic interstitial radiosurgery in patients with epilepsy due to hypothalamic hamartomas. ( 25062290 )
2014
25
Intraoperative use of high-field MRI in hypothalamic hamartomas associated with epilepsy: clinico-pathological presentation of five adult patients. ( 25085541 )
2014
26
Endoscopic disconnection of hypothalamic hamartomas: safety and feasibility of robot-assisted, thulium laser-based procedures. ( 25325417 )
2014
27
The benign spectrum of hypothalamic hamartomas: infrequent epilepsy and normal cognition in patients presenting with central precocious puberty. ( 23092686 )
2013
28
Hypothalamic hamartomas: neuropathological features with and without prior gamma knife radiosurgery. ( 23207720 )
2013
29
Combined open microsurgical and endoscopic resection of hypothalamic hamartomas. ( 23521152 )
2013
30
Hypothalamic hamartomas. ( 23521154 )
2013
31
Hypothalamic hamartomas. Part 1. Clinical, neuroimaging, and neurophysiological characteristics. ( 23724840 )
2013
32
Hypothalamic hamartomas. Part 2. Surgical considerations and outcome. ( 23724841 )
2013
33
Severe Pallister-Hall syndrome with persistent urogenital sinus, renal agenesis, imperforate anus, bilateral hypothalamic hamartomas, and severe skeletal anomalies. ( 23950073 )
2013
34
Hypothalamic hamartomas: optimal approach to clinical evaluation and diagnosis. ( 24328883 )
2013
35
Complete and curative excision of hypothalamic hamartomas via the orbito-zygomatic approach. ( 24441357 )
2013
36
Hypothalamic hamartomas-what determines seizure types and other clinical manifestations? ( 22473543 )
2012
37
Surgical resection of hypothalamic hamartomas for severe behavioral symptoms. ( 21130692 )
2011
38
Long-term outcome after emergency resection of hypothalamic hamartomas for status gelasticus. ( 21284451 )
2011
39
Management of hypothalamic hamartomas: progress due to alignment of the stars. ( 21370583 )
2011
40
Surgical approaches to hypothalamic hamartomas. ( 21374830 )
2011
41
Ketogenic diet in the treatment of seizures associated with hypothalamic hamartomas. ( 21377333 )
2011
42
Functional rundown of gamma-aminobutyric acid(A) receptors in human hypothalamic hamartomas. ( 21391233 )
2011
43
Predictors of inpatient complications and outcomes following surgical resection of hypothalamic hamartomas. ( 21886878 )
2011
44
Gelastic epilepsy and hypothalamic hamartomas: neuroanatomical analysis of brain lesions in 100 patients. ( 21975589 )
2011
45
Central precocious puberty due to hypothalamic hamartomas correlates with anatomic features but not with expression of GnRH, TGFalpha, or KISS1. ( 20389100 )
2010
46
Ictogenesis and symptomatogenesis of gelastic seizures in hypothalamic hamartomas: an ictal SPECT study. ( 20887368 )
2010
47
Gamma Knife surgery for hypothalamic hamartomas and epilepsy: patient selection and outcomes. ( 21121803 )
2010
48
Gamma Knife surgery for hypothalamic hamartomas causing refractory epilepsy: preliminary results from a prospective observational study. ( 21121804 )
2010
49
Bicarbonate contributes to GABAA receptor-mediated neuronal excitation in surgically resected human hypothalamic hamartomas. ( 19022626 )
2009
50
A review on the management of epilepsy associated with hypothalamic hamartomas. ( 19153751 )
2009

Variations for Hypothalamic Hamartomas

ClinVar genetic disease variations for Hypothalamic Hamartomas:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GLI3 NM_000168.5(GLI3): c.3118G> A (p.Glu1040Lys) single nucleotide variant Uncertain significance rs772839719 GRCh37 Chromosome 7, 42005553: 42005553
2 GLI3 NM_000168.5(GLI3): c.3118G> A (p.Glu1040Lys) single nucleotide variant Uncertain significance rs772839719 GRCh38 Chromosome 7, 41965955: 41965955
3 GLI3 NM_000168.5(GLI3): c.241G> A (p.Glu81Lys) single nucleotide variant Uncertain significance rs376725882 GRCh37 Chromosome 7, 42187951: 42187951
4 GLI3 NM_000168.5(GLI3): c.241G> A (p.Glu81Lys) single nucleotide variant Uncertain significance rs376725882 GRCh38 Chromosome 7, 42148352: 42148352
5 GLI3 NM_000168.5(GLI3): c.3284A> G (p.Asp1095Gly) single nucleotide variant Uncertain significance rs1554304659 GRCh38 Chromosome 7, 41965789: 41965789
6 GLI3 NM_000168.5(GLI3): c.3284A> G (p.Asp1095Gly) single nucleotide variant Uncertain significance rs1554304659 GRCh37 Chromosome 7, 42005387: 42005387

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

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 9.02 GNRHR GRM1 KISS1R SLC12A2 SLC12A5

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 across plasma membrane GO:1990573 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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