MCID: HMM003
MIFTS: 48

Hemimegalencephaly

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hemimegalencephaly

MalaCards integrated aliases for Hemimegalencephaly:

Name: Hemimegalencephaly 53 59 37 29 6 72
Unilateral Megalencephaly 53 59
Macrencephaly 53 54

Characteristics:

Orphanet epidemiological data:

59
hemimegalencephaly
Inheritance: Not applicable; Age of onset: Infancy;

Classifications:



External Ids:

KEGG 37 H01833
ICD10 via Orphanet 34 Q04.5
UMLS via Orphanet 73 C0431391
Orphanet 59 ORPHA99802
UMLS 72 C0431391

Summaries for Hemimegalencephaly

NINDS : 54 Megalencephaly, also called macrencephaly, is a condition in which an infant or child has an abnormally large, heavy, and usually malfunctioning brain. By definition, the brain weight is greater than average for the age and gender of the child. Head enlargement may be evident at birth or the head may become abnormally large in the early years of life. Megalencephaly is thought to be related to a disturbance in the regulation of cell production in the brain. In normal development, neuron proliferation - the process in which nerve cells divide to form new generations of cells - is regulated so that the correct number of cells is produced in the proper place at the appropriate time. In a megalencephalic brain, too many cells are produced either during development or progressively as part of another disorder, such as one of the neurofibromatoses or leukodystrophies. Symptoms of megalencephaly include delayed development, seizures, and corticospinal (brain cortex and spinal cord) dysfunction. Megalencephaly affects males more often than females. Unilateral megalencephaly or hemimegalencephaly is a rare condition that is characterized by the enlargement of one side of the brain. Children with this disorder may have a large, asymmetrical head accompanied by seizures, partial paralysis, and impaired cognitive development. Megalencephaly is different from macrocephaly (also called megacephaly or megalocephaly), which describes a big head, and which doesn’t necessarily indicate abnormality. Large head size is passed down through the generations in some families.

MalaCards based summary : Hemimegalencephaly, also known as unilateral megalencephaly, is related to megalencephaly and cutis marmorata telangiectatica congenita. An important gene associated with Hemimegalencephaly is MTOR (Mechanistic Target Of Rapamycin Kinase), and among its related pathways/superpathways are Signaling by GPCR and ERK Signaling. Affiliated tissues include brain, cortex and spinal cord, and related phenotypes are Decreased viability and Decreased viability

NIH Rare Diseases : 53 Hemimegalencephaly is a rare malformation involving one side of the brain. It may occur alone or in association with other syndromes such as Proteus syndrome, tuberous sclerosis, linear sebaceous nevus syndrome, neurofibromatosis, Sturge-Weber syndrome, or Klippel-Trenaunay syndrome. Children with this disorder may have a large, asymmetrical head accompanied by seizures, partial paralysis, and impaired cognitive development. Because the seizures associated with hemimegalencephaly are difficult to treat with anticonvulsant medications, a surgery called hemispherectomy is often the most successful treatment. The cause of hemimegalencephaly is not fully understood, but involves a disturbance of cells early in development and likely involves genes involved in patterning and symmetry.

KEGG : 37
Hemimegalencephaly is a rare brain malformation caused by anomalous neuronal and glial proliferation or differentiation, with an abnormally enlarged and dysplastic hemisphere. It can occur as an isolated finding, or as part of a syndrome, such as hypomelanosis of Ito, tuberous sclerosis complex, epidermal nevus syndrome or Klippel-Trenaunay syndrome. Patients have intellectual delay, hemiparesis and severe epilepsy. Drug resistant epilepsy is often treated with a hemispherectomy. If resective surgery is impossible, vagus nerve stimulation (VNS) can be used for seizure palliation. The etiology of hemimegalencephaly is not clear. Some authors consider abnormal neuroepithelial cell lineage as the primary cause.

Wikipedia : 75 Hemimegalencephaly (HME), or unilateral megalencephaly, is a rare congenital disorder affecting all or a... more...

Related Diseases for Hemimegalencephaly

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

(show top 50) (show all 192)
# Related Disease Score Top Affiliating Genes
1 megalencephaly 32.5 PIK3CA MTOR AKT3
2 cutis marmorata telangiectatica congenita 30.3 PIK3CA AKT3
3 megalencephaly-capillary malformation-polymicrogyria syndrome 30.3 PIK3CA AKT3
4 tuberous sclerosis 30.0 RHEB PIK3CA MTOR GFAP
5 dysembryoplastic neuroepithelial tumor 29.6 MAP2 GRIN1 GFAP
6 glioblastoma 28.9 PIK3CA MYC MTOR CCND1 AKT3
7 ovarian cancer 28.7 PIK3CA MYC CTNNB1 CCND1 AKT3
8 glioblastoma multiforme 28.4 PIK3CA MYC MTOR GFAP CCND1 AKT3
9 klippel-trenaunay-weber syndrome 11.5
10 schimmelpenning-feuerstein-mims syndrome 11.5
11 smith-kingsmore syndrome 11.5
12 isolated megalencephaly 11.3
13 pik3ca-related overgrowth spectrum 11.2
14 short stature wormian bones dextrocardia 11.2
15 seizure disorder 10.6
16 visual epilepsy 10.6
17 dermatosis papulosa nigra 10.6 PIK3CA MTOR
18 hemihyperplasia, isolated 10.5
19 pancreatic neuroendocrine tumor 10.5 PIK3CA MTOR
20 adult hepatocellular carcinoma 10.5 PIK3CA CTNNB1
21 prostate transitional cell carcinoma 10.5 PIK3CA CTNNB1
22 large intestine adenocarcinoma 10.5 MTOR CTNNB1
23 cerebral malformation 10.5
24 west syndrome 10.5
25 ethmoid sinus adenocarcinoma 10.5 PIK3CA CCND1
26 ethmoid sinus cancer 10.5 PIK3CA CCND1
27 monoclonal paraproteinemia 10.5 MTOR CCND1
28 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.5
29 polymicrogyria 10.5
30 clear cell adenofibroma 10.4 PIK3CA MTOR
31 macrocephaly/megalencephaly syndrome, autosomal recessive 10.4
32 weber syndrome 10.4
33 subependymal glioma 10.4 MTOR GFAP
34 hepatic angiomyolipoma 10.4 MYC MTOR
35 tuberous sclerosis 1 10.4
36 status epilepticus 10.4
37 epilepsy 10.4
38 benign ependymoma 10.4 MTOR GFAP
39 rosette-forming glioneuronal tumor 10.4 PIK3CA MAP2
40 hypomelanosis of ito 10.4
41 early infantile epileptic encephalopathy 10.4
42 pachygyria 10.4
43 encephalopathy 10.4
44 nodular medulloblastoma 10.4 GFAP CTNNB1
45 ovarian clear cell adenocarcinoma 10.3 PIK3CA MTOR
46 nevus, epidermal 10.3
47 proteus syndrome 10.3
48 lung acinar adenocarcinoma 10.3 MYC CTNNB1
49 chiari malformation 10.3 MAP2 GFAP
50 angioosteohypertrophic syndrome 10.3

Graphical network of the top 20 diseases related to Hemimegalencephaly:



Diseases related to Hemimegalencephaly

Symptoms & Phenotypes for Hemimegalencephaly

GenomeRNAi Phenotypes related to Hemimegalencephaly according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.2 MTOR PIK3CA
2 Decreased viability GR00221-A-1 10.2 AKT3 MTOR MYC PIK3CA RHEB
3 Decreased viability GR00221-A-2 10.2 AKT3 PIK3CA
4 Decreased viability GR00221-A-3 10.2 AKT3 MYC
5 Decreased viability GR00221-A-4 10.2 AKT3 MTOR PIK3CA
6 Decreased viability GR00301-A 10.2 AKT3
7 Decreased viability GR00342-S-1 10.2 MTOR
8 Decreased viability GR00342-S-2 10.2 MTOR
9 Decreased viability GR00402-S-2 10.2 AKT3 MTOR MYC PIK3CA RHEB
10 Decreased cell migration GR00055-A-1 9.56 AKT3 CTNNB1 MTOR PIK3CA
11 Decreased viability in esophageal squamous lineage GR00235-A 9.56 CCND1 CTNNB1 GFAP GRIN1 MAP2 PIK3CA
12 Reduced mammosphere formation GR00396-S 9.1 AKT3 CCND1 GRIN1 MTOR MYC RHEB

MGI Mouse Phenotypes related to Hemimegalencephaly:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.22 AKT3 CCND1 CTNNB1 GFAP GRIN1 MAP2
2 cardiovascular system MP:0005385 10.21 AKT3 CCND1 CTNNB1 GFAP GRIN1 MTOR
3 growth/size/body region MP:0005378 10.2 AKT3 CCND1 CTNNB1 GFAP GRIN1 MAP2
4 cellular MP:0005384 10.15 AKT3 CCND1 CTNNB1 GFAP GRIN1 MTOR
5 mortality/aging MP:0010768 10.11 AKT3 CCND1 CTNNB1 GFAP GRIN1 MAP2
6 homeostasis/metabolism MP:0005376 10.09 AKT3 CCND1 CTNNB1 GFAP GRIN1 MTOR
7 endocrine/exocrine gland MP:0005379 10.02 AKT3 CCND1 CTNNB1 MAP2 MTOR MYC
8 immune system MP:0005387 10.01 AKT3 CCND1 CTNNB1 GFAP MTOR MYC
9 nervous system MP:0003631 9.9 AKT3 CCND1 CTNNB1 GFAP GRIN1 MAP2
10 muscle MP:0005369 9.8 CTNNB1 GFAP MTOR MYC PIK3CA RHEB
11 neoplasm MP:0002006 9.65 AKT3 CCND1 CTNNB1 MYC PIK3CA
12 normal MP:0002873 9.61 AKT3 CCND1 CTNNB1 GFAP GRIN1 MTOR
13 reproductive system MP:0005389 9.23 AKT3 CCND1 CTNNB1 GRIN1 MAP2 MYC

Drugs & Therapeutics for Hemimegalencephaly

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies Recruiting NCT02890641

Search NIH Clinical Center for Hemimegalencephaly

Genetic Tests for Hemimegalencephaly

Genetic tests related to Hemimegalencephaly:

# Genetic test Affiliating Genes
1 Hemimegalencephaly 29

Anatomical Context for Hemimegalencephaly

MalaCards organs/tissues related to Hemimegalencephaly:

41
Brain, Cortex, Spinal Cord, Cerebellum, Liver, Skin, Fetal Brain

Publications for Hemimegalencephaly

Articles related to Hemimegalencephaly:

(show top 50) (show all 499)
# Title Authors PMID Year
1
New insights into a spectrum of developmental malformations related to mTOR dysregulations: challenges and perspectives. 38
30901081 2019
2
Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy. 38
31411685 2019
3
Physical Growth of the Contralateral Cerebrum is Preserved After Hemispherotomy in Childhood. 38
30928301 2019
4
Pathological mTOR mutations impact cortical development. 38
30789219 2019
5
Disrupted cortico-ponto-cerebellar pathway in patients with hemimegalencephaly. 38
30665821 2019
6
Inclusion of hemimegalencephaly into the phenotypic spectrum of NPRL3 pathogenic variants in familial focal epilepsy with variable foci. 38
31111464 2019
7
Posterior quadrantic dysplasia with localized hemimegalencephaly in a patient with giant congenital melanocytic nevus: First case report. 38
30794039 2019
8
Oxidative stress and inflammation in a spectrum of epileptogenic cortical malformations: molecular insights into their interdependence. 38
30303592 2019
9
The role of somatic mutational events in the pathogenesis of epilepsy. 38
30762606 2019
10
Outcome after hemispherotomy in patients with intractable epilepsy: Comparison of techniques in the Italian experience. 38
30780077 2019
11
Late adult-onset epilepsy in a patient with hemimegalencephaly. 38
30977727 2019
12
Application of Automated Brain Segmentation and Fiber Tracking in Hemimegalencephaly. 38
30665473 2019
13
mTOR Inhibitors as a New Therapeutic Strategy in Treatment Resistant Epilepsy in Hemimegalencephaly: A Case Report. 38
30514132 2019
14
Evidence for Innate and Adaptive Immune Responses in a Cohort of Intractable Pediatric Epilepsy Surgery Patients. 38
30761153 2019
15
Malformations of Cerebral Cortex Development: Molecules and Mechanisms. 38
30677308 2019
16
The Space-Time Continuum of Cortical Dysplasia. 38
30838928 2019
17
Endoscope-assisted (with robotic guidance and using a hybrid technique) interhemispheric transcallosal hemispherotomy: a comparative study with open hemispherotomy to evaluate efficacy, complications, and outcome. 38
30497135 2018
18
Identification of a somatic mutation in the RHEB gene through high depth and ultra-high depth next generation sequencing in a patient with Hemimegalencephaly and drug resistant Epilepsy. 38
30414531 2018
19
Dysplastic megalencephaly phenotype presenting with prenatal high-output cardiac failure. 38
29594439 2018
20
Brain Somatic Mutations in MTOR Disrupt Neuronal Ciliogenesis, Leading to Focal Cortical Dyslamination. 38
29937275 2018
21
The 2016 Bernard Sachs Lecture: Timing in Morphogenesis and Genetic Gradients During Normal Development and in Malformations of the Nervous System. 38
29778488 2018
22
Hemimyoclonus: A rare presentation of hemimegalencephaly. 38
29503339 2018
23
Review: Mechanistic target of rapamycin (mTOR) pathway, focal cortical dysplasia and epilepsy. 38
29359340 2018
24
Dysplasia and overgrowth: magnetic resonance imaging of pediatric brain abnormalities secondary to alterations in the mechanistic target of rapamycin pathway. 38
29279945 2018
25
Hemimegalencephaly with Bannayan-Riley-Ruvalcaba syndrome. 38
29444762 2018
26
Targeting the Mammalian Target of Rapamycin for Epileptic Encephalopathies and Malformations of Cortical Development. 38
29246093 2018
27
Contribution of Altered Endocannabinoid System to Overactive mTORC1 Signaling in Focal Cortical Dysplasia. 38
30687088 2018
28
Hemimegalencephaly: Seizure Outcome in an Infant after Hemispherectomy. 38
29899784 2018
29
What to do in failed hemispherotomy? Our clinical series and review of the literature. 38
28799142 2018
30
Posterior Quadrantic Dysplasia: MRI Diagnosis of a Lesser Known Cause of Pediatric Intractable Epilepsy. 38
29899786 2018
31
Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias. 38
29281825 2017
32
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly. 38
28969385 2017
33
Somatic uniparental disomy of Chromosome 16p in hemimegalencephaly. 38
28864461 2017
34
Hemimegalencephaly with intractable epilepsy: A case report. 38
28924292 2017
35
Ictal PET in Ohtahara Syndrome With Hemimegalencephaly. 38
28195914 2017
36
Pathologic Active mTOR Mutation in Brain Malformation with Intractable Epilepsy Leads to Cell-Autonomous Migration Delay. 38
28427592 2017
37
A Case of Epilepsia Partialis Continua Due to Linear Nevus Syndrome with Hemimegalencephaly. 38
28904588 2017
38
"Endovascular embolic hemispherectomy": a strategy for the initial management of catastrophic holohemispheric epilepsy in the neonate. 38
27796549 2017
39
Evolution of epilepsy in hemimegalencephaly from infancy to adulthood: Case report and review of the literature. 38
28377884 2017
40
Delayed diagnosis of shunt overdrainage following functional hemispherotomy and ventriculoperitoneal shunt placement in a hemimegalencephaly patient. 38
28348960 2017
41
Electrophysiological Sequelae of Hemispherotomy in Ipsilateral Human Cortex. 38
28424599 2017
42
Proteus Syndrome with Neurological Manifestations: A Rare Presentation. 38
28553400 2017
43
Hyaline Protoplasmic Astrocytopathy:  A Clinicopathologic Study. 38
27614668 2016
44
Telencephalic Flexure and Malformations of the Lateral Cerebral (Sylvian) Fissure. 38
27590993 2016
45
Genetic Basis of Brain Malformations. 38
27781032 2016
46
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 38
27159400 2016
47
Maturation and Dysgenesis of the Human Olfactory Bulb. 38
26096058 2016
48
mTOR pathway inhibition as a new therapeutic strategy in epilepsy and epileptogenesis. 38
27049136 2016
49
Utility of diffusion tensor imaging studies linked to neuronavigation and other modalities in repeat hemispherotomy for intractable epilepsy. 38
26651159 2016
50
Three cases of right frontal megalencephaly: Clinical characteristics and long-term outcome. 38
26415548 2016

Variations for Hemimegalencephaly

ClinVar genetic disease variations for Hemimegalencephaly:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 subset of 390 genes:CREBBP ; GRIN2A ; PKD1 ; PRRT2 ; RBFOX1 ; SETD1A ; SH2B1 ; SRCAP ; TSC2 maternal UPD(16p) complex Pathogenic 16:1280042-33710558 :0-0
2 SCN1A NM_006920.6(SCN1A): c.3294dup (p.Ser1099fs) duplication Pathogenic 2:166892659-166892660 2:166036150-166036150
3 MTOR NM_004958.4(MTOR): c.4447T> C (p.Cys1483Arg) single nucleotide variant Pathogenic/Likely pathogenic rs1057519914 1:11217231-11217231 1:11157174-11157174
4 RHEB NM_005614.4(RHEB): c.119A> T (p.Glu40Val) single nucleotide variant Likely pathogenic rs1554438588 7:151188034-151188034 7:151490948-151490948
5 PIK3CA NM_006218.4(PIK3CA): c.1059+12T> A single nucleotide variant Uncertain significance rs200627037 3:178921589-178921589 3:179203801-179203801
6 GRIN1 NM_007327.4(GRIN1): c.1198-19G> C single nucleotide variant Uncertain significance rs757759855 9:140055489-140055489 9:137161037-137161037

Expression for Hemimegalencephaly

Search GEO for disease gene expression data for Hemimegalencephaly.

Pathways for Hemimegalencephaly

Pathways related to Hemimegalencephaly according to GeneCards Suite gene sharing:

(show top 50) (show all 91)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.08 RHEB PIK3CA MYC MTOR GRIN1 GFAP
2
Show member pathways
13.77 RHEB MYC MTOR GFAP CTNNB1 CCND1
3
Show member pathways
12.91 RHEB PIK3CA MTOR CTNNB1 AKT3
4
Show member pathways
12.89 RHEB PIK3CA MYC MTOR CTNNB1 CCND1
5
Show member pathways
12.89 RHEB PIK3CA MYC MTOR CTNNB1 CCND1
6
Show member pathways
12.84 RHEB PIK3CA MTOR AKT3
7
Show member pathways
12.83 PIK3CA CTNNB1 CCND1 AKT3
8 12.79 PIK3CA MYC MTOR CTNNB1 CCND1 AKT3
9
Show member pathways
12.75 PIK3CA MYC MTOR CCND1 AKT3
10
Show member pathways
12.72 PIK3CA MYC MTOR CTNNB1 CCND1 AKT3
11
Show member pathways
12.69 PIK3CA GRIN1 CTNNB1 AKT3
12
Show member pathways
12.69 RHEB PIK3CA MYC MTOR CTNNB1 CCND1
13
Show member pathways
12.67 PIK3CA MTOR CTNNB1 AKT3
14
Show member pathways
12.65 PIK3CA MTOR CCND1 AKT3
15
Show member pathways
12.62 RHEB PIK3CA MTOR CTNNB1 CCND1 AKT3
16
Show member pathways
12.57 PIK3CA MYC MTOR CCND1 AKT3
17 12.56 SCN1A MAP2 GRIN1 GFAP
18
Show member pathways
12.55 PIK3CA MYC CTNNB1 AKT3
19 12.5 PIK3CA MYC MTOR CCND1
20
Show member pathways
12.47 RHEB PIK3CA MTOR AKT3
21
Show member pathways
12.47 PIK3CA MYC MTOR CCND1 AKT3
22
Show member pathways
12.42 PIK3CA MTOR CTNNB1 AKT3
23
Show member pathways
12.42 RHEB PIK3CA MTOR CCND1 AKT3
24 12.4 MYC CTNNB1 CCND1 AKT3
25
Show member pathways
12.38 RHEB PIK3CA MTOR AKT3
26 12.34 PIK3CA MYC CTNNB1 CCND1 AKT3
27
Show member pathways
12.32 PIK3CA MYC MTOR GFAP CCND1 AKT3
28
Show member pathways
12.31 PIK3CA MYC CTNNB1 CCND1 AKT3
29
Show member pathways
12.27 PIK3CA CCND1 AKT3
30
Show member pathways
12.27 PIK3CA MTOR AKT3
31 12.27 PIK3CA GRIN1 AKT3
32
Show member pathways
12.2 PIK3CA MTOR CTNNB1 AKT3
33
Show member pathways
12.18 RHEB PIK3CA MYC MTOR CCND1 AKT3
34
Show member pathways
12.17 RHEB PIK3CA MTOR AKT3
35 12.15 MYC CTNNB1 CCND1
36 12.14 MAP2 GRIN1 CTNNB1
37
Show member pathways
12.13 PIK3CA MTOR CTNNB1
38
Show member pathways
12.13 RHEB PIK3CA MTOR AKT3
39 12.12 MYC CTNNB1 CCND1
40
Show member pathways
12.12 RHEB PIK3CA MTOR AKT3
41 12.11 RHEB MYC MTOR CTNNB1 CCND1
42
Show member pathways
12.1 PIK3CA MYC AKT3
43 12.09 PIK3CA MYC CTNNB1 AKT3
44 12.08 MTOR GRIN1 CTNNB1
45 12.08 RHEB PIK3CA MTOR AKT3
46 12.07 PIK3CA CTNNB1 AKT3
47
Show member pathways
12.06 PIK3CA CCND1 AKT3
48
Show member pathways
12.06 PIK3CA MTOR CTNNB1 CCND1 AKT3
49 12.05 MTOR CCND1 AKT3
50
Show member pathways
12.05 PIK3CA MYC MTOR AKT3

GO Terms for Hemimegalencephaly

Cellular components related to Hemimegalencephaly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.96 SCN1A RHEB PIK3CA MYC MTOR GRIN1
2 cytoplasm GO:0005737 9.32 RHEB PIK3CA MYC MTOR MAP2 GRIN1
3 axon initial segment GO:0043194 9.16 SCN1A MAP2
4 intracellular GO:0005622 8.65 CCND1

Biological processes related to Hemimegalencephaly according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cell cycle arrest GO:0007050 9.67 RHEB MYC MTOR
2 response to morphine GO:0043278 9.57 MTOR GRIN1
3 beta-catenin-TCF complex assembly GO:1904837 9.56 MYC CTNNB1
4 vasculature development GO:0001944 9.54 PIK3CA CTNNB1
5 response to ethanol GO:0045471 9.54 MYC GRIN1 CCND1
6 positive regulation of mesenchymal cell proliferation GO:0002053 9.52 MYC CTNNB1
7 positive regulation of oligodendrocyte differentiation GO:0048714 9.51 RHEB MTOR
8 response to estradiol GO:0032355 9.5 MYC CTNNB1 CCND1
9 regulation of myelination GO:0031641 9.48 MTOR CTNNB1
10 regulation of osteoclast differentiation GO:0045670 9.46 MTOR CTNNB1
11 energy reserve metabolic process GO:0006112 9.43 MYC MTOR
12 negative regulation of macroautophagy GO:0016242 9.4 PIK3CA MTOR
13 anoikis GO:0043276 9.26 PIK3CA MTOR
14 regulation of axonogenesis GO:0050770 9.25 GRIN1
15 re-entry into mitotic cell cycle GO:0000320 9.16 MYC CCND1
16 positive regulation of TOR signaling GO:0032008 9.13 RHEB PIK3CA AKT3
17 positive regulation of glial cell proliferation GO:0060252 8.8 MYC MTOR GFAP

Molecular functions related to Hemimegalencephaly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 9.26 RHEB MTOR CTNNB1 CCND1
2 protein-containing complex binding GO:0044877 8.92 MYC MTOR GRIN1 CCND1

Sources for Hemimegalencephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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