MCID: HMM003
MIFTS: 47

Hemimegalencephaly

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hemimegalencephaly

MalaCards integrated aliases for Hemimegalencephaly:

Name: Hemimegalencephaly 52 58 36 29 6 71
Unilateral Megalencephaly 52 58
Macrencephaly 52 53

Characteristics:

Orphanet epidemiological data:

58
hemimegalencephaly
Inheritance: Not applicable; Age of onset: Infancy;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

KEGG 36 H01833
ICD10 via Orphanet 33 Q04.5
UMLS via Orphanet 72 C0431391
Orphanet 58 ORPHA99802
UMLS 71 C0431391

Summaries for Hemimegalencephaly

NINDS : 53 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-capillary malformation-polymicrogyria syndrome and megalencephaly. An important gene associated with Hemimegalencephaly is MTOR (Mechanistic Target Of Rapamycin Kinase), and among its related pathways/superpathways are Signaling by GPCR and TGF-Beta Pathway. Affiliated tissues include brain, cortex and spinal cord, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

NIH Rare Diseases : 52 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 : 36 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 : 74 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 224)
# Related Disease Score Top Affiliating Genes
1 megalencephaly-capillary malformation-polymicrogyria syndrome 32.8 PIK3CA AKT3
2 megalencephaly 32.0 SCN1A PIK3CA AKT3
3 proteus syndrome 30.5 PIK3CA MTOR AKT3
4 polymicrogyria 30.3 SCN1A PIK3CA AKT3
5 cutis marmorata telangiectatica congenita 30.1 PIK3CA AKT3
6 tuberous sclerosis 30.1 RPS6 PIK3CA MYC MTOR GFAP
7 status epilepticus 29.7 SCN1A GRIN1 GFAP
8 focal epilepsy 29.5 SCN1A MTOR GFAP
9 thymoma 29.4 PIK3CA MTOR CCND1 AKT3
10 dysembryoplastic neuroepithelial tumor 29.2 MAP2 GRIN1 GFAP
11 ganglioglioma 29.2 MAP2 GRIN1 GFAP
12 alacrima, achalasia, and mental retardation syndrome 29.1 SCN1A GRIN1 CTNNB1
13 glioblastoma multiforme 28.0 PIK3CA MYC MTOR GFAP CTNNB1 CCND1
14 klippel-trenaunay-weber syndrome 11.5
15 schimmelpenning-feuerstein-mims syndrome 11.5
16 smith-kingsmore syndrome 11.5
17 isolated megalencephaly 11.3
18 stratton-parker syndrome 11.2
19 pik3ca-related overgrowth spectrum 11.2
20 seizure disorder 10.6
21 visual epilepsy 10.6
22 hemihyperplasia, isolated 10.5
23 west syndrome 10.5
24 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.5
25 tuberous sclerosis 1 10.4
26 macrocephaly/megalencephaly syndrome, autosomal recessive 10.4
27 weber syndrome 10.4
28 epilepsy 10.4
29 hypomelanosis of ito 10.4
30 early infantile epileptic encephalopathy 10.4
31 pachygyria 10.4
32 encephalopathy 10.4
33 obsolete: ito hypomelanosis 10.4
34 dermatosis papulosa nigra 10.4 PIK3CA MTOR
35 nevus, epidermal 10.3
36 ovarian clear cell adenofibroma 10.3 PIK3CA CTNNB1
37 angioosteohypertrophic syndrome 10.3
38 overgrowth syndrome 10.3
39 microcystic stromal tumor 10.3 CTNNB1 CCND1
40 pik3ca-related segmental overgrowth 10.3
41 subependymal glioma 10.3 RPS6 MTOR
42 ohtahara syndrome 10.3
43 endometrioid ovary carcinoma 10.3 PIK3CA CTNNB1
44 polymorphous low-grade adenocarcinoma 10.2 CTNNB1 CCND1
45 rosette-forming glioneuronal tumor 10.2 PIK3CA MAP2
46 bone squamous cell carcinoma 10.2 CTNNB1 CCND1
47 epstein-barr virus-associated gastric carcinoma 10.2 PIK3CA CTNNB1
48 hydrocephalus, congenital, 1 10.2
49 cortical dysplasia, complex, with other brain malformations 7 10.2
50 hydrocephalus 10.2

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 top 50) (show all 61)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.48 MTOR
2 Increased shRNA abundance (Z-score > 2) GR00366-A-106 10.48 AKT3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-113 10.48 CTNNB1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-123 10.48 AKT3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-126 10.48 CCND1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-144 10.48 MYC
7 Increased shRNA abundance (Z-score > 2) GR00366-A-152 10.48 CCND1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-157 10.48 PIK3CA
9 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.48 CCND1 PIK3CA MTOR
10 Increased shRNA abundance (Z-score > 2) GR00366-A-163 10.48 CCND1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10.48 AKT3
12 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.48 PIK3CA
13 Increased shRNA abundance (Z-score > 2) GR00366-A-173 10.48 MTOR MYC
14 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.48 CCND1 CTNNB1 PIK3CA SCN1A
15 Increased shRNA abundance (Z-score > 2) GR00366-A-178 10.48 SCN1A MYC
16 Increased shRNA abundance (Z-score > 2) GR00366-A-186 10.48 SCN1A
17 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.48 PIK3CA
18 Increased shRNA abundance (Z-score > 2) GR00366-A-191 10.48 CTNNB1 SCN1A
19 Increased shRNA abundance (Z-score > 2) GR00366-A-197 10.48 CTNNB1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-199 10.48 CCND1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-21 10.48 CCND1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-210 10.48 CCND1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-211 10.48 CCND1 SCN1A
24 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.48 SCN1A
25 Increased shRNA abundance (Z-score > 2) GR00366-A-24 10.48 MYC
26 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.48 CCND1 MYC
27 Increased shRNA abundance (Z-score > 2) GR00366-A-26 10.48 MYC
28 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.48 SCN1A
29 Increased shRNA abundance (Z-score > 2) GR00366-A-36 10.48 CCND1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-39 10.48 AKT3
31 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.48 PIK3CA MTOR
32 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.48 CTNNB1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.48 CTNNB1 PIK3CA
34 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.48 AKT3
35 Increased shRNA abundance (Z-score > 2) GR00366-A-60 10.48 PIK3CA AKT3 MTOR MYC
36 Increased shRNA abundance (Z-score > 2) GR00366-A-67 10.48 CTNNB1
37 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.48 CTNNB1 MTOR MYC
38 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.48 CTNNB1
39 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.48 AKT3 MTOR
40 Increased shRNA abundance (Z-score > 2) GR00366-A-93 10.48 SCN1A
41 Increased shRNA abundance (Z-score > 2) GR00366-A-99 10.48 SCN1A
42 Decreased viability GR00055-A-2 10.26 MTOR PIK3CA
43 Decreased viability GR00221-A-1 10.26 AKT3 MTOR MYC PIK3CA
44 Decreased viability GR00221-A-2 10.26 AKT3 PIK3CA
45 Decreased viability GR00221-A-3 10.26 AKT3 MYC
46 Decreased viability GR00221-A-4 10.26 AKT3 MTOR PIK3CA
47 Decreased viability GR00301-A 10.26 AKT3
48 Decreased viability GR00342-S-1 10.26 MTOR
49 Decreased viability GR00342-S-2 10.26 MTOR
50 Decreased viability GR00402-S-2 10.26 AKT3 MTOR MYC PIK3CA

MGI Mouse Phenotypes related to Hemimegalencephaly:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.19 AKT3 CCND1 CTNNB1 GFAP GRIN1 MAP2
2 growth/size/body region MP:0005378 10.14 AKT3 CCND1 CTNNB1 GFAP GRIN1 MAP2
3 cardiovascular system MP:0005385 10.13 AKT3 CCND1 CTNNB1 GFAP GRIN1 MTOR
4 cellular MP:0005384 10.11 AKT3 CCND1 CTNNB1 GFAP GRIN1 MTOR
5 endocrine/exocrine gland MP:0005379 10.03 AKT3 CCND1 CTNNB1 MAP2 MTOR MYC
6 homeostasis/metabolism MP:0005376 10.02 AKT3 CCND1 CTNNB1 GFAP GRIN1 MTOR
7 mortality/aging MP:0010768 10.02 AKT3 CCND1 CTNNB1 GFAP GRIN1 MAP2
8 nervous system MP:0003631 9.85 AKT3 CCND1 CTNNB1 GFAP GRIN1 MAP2
9 neoplasm MP:0002006 9.65 AKT3 CCND1 CTNNB1 MYC PIK3CA
10 normal MP:0002873 9.56 AKT3 CCND1 CTNNB1 GFAP GRIN1 MTOR
11 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:

40
Brain, Cortex, Spinal Cord, Lung, Breast, Ovary, Tongue

Publications for Hemimegalencephaly

Articles related to Hemimegalencephaly:

(show top 50) (show all 507)
# Title Authors PMID Year
1
A journey through formation and malformations of the neo-cortex. 61
31776716 2020
2
Dissecting the genetic basis of focal cortical dysplasia: a large cohort study. 61
31444548 2019
3
Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR. 61
31441589 2019
4
GATORopathies: The role of amino acid regulatory gene mutations in epilepsy and cortical malformations. 61
31625153 2019
5
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. 61
30414531 2019
6
Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy. 61
31411685 2019
7
PI3K/mTOR Pathway Inhibition: Opportunities in Oncology and Rare Genetic Diseases. 61
31752127 2019
8
Widespread frontal lobe cortical dysplasia or partial hemimegalencephaly: a continuum of the spectrum. 61
31617492 2019
9
New insights into a spectrum of developmental malformations related to mTOR dysregulations: challenges and perspectives. 61
30901081 2019
10
Prenatal diagnosis of hemimegalencephaly revealing tuberous sclerosis complex. 61
31568608 2019
11
Imaging Findings of Klippel-Trenaunay Syndrome. 61
31609295 2019
12
Physical Growth of the Contralateral Cerebrum is Preserved After Hemispherotomy in Childhood. 61
30928301 2019
13
Pathological mTOR mutations impact cortical development. 61
30789219 2019
14
Posterior quadrantic dysplasia with localized hemimegalencephaly in a patient with giant congenital melanocytic nevus: First case report. 61
30794039 2019
15
Disrupted cortico-ponto-cerebellar pathway in patients with hemimegalencephaly. 61
30665821 2019
16
Inclusion of hemimegalencephaly into the phenotypic spectrum of NPRL3 pathogenic variants in familial focal epilepsy with variable foci. 61
31111464 2019
17
Oxidative stress and inflammation in a spectrum of epileptogenic cortical malformations: molecular insights into their interdependence. 61
30303592 2019
18
Outcome after hemispherotomy in patients with intractable epilepsy: Comparison of techniques in the Italian experience. 61
30780077 2019
19
The role of somatic mutational events in the pathogenesis of epilepsy. 61
30762606 2019
20
Late adult-onset epilepsy in a patient with hemimegalencephaly. 61
30977727 2019
21
Application of Automated Brain Segmentation and Fiber Tracking in Hemimegalencephaly. 61
30665473 2019
22
mTOR Inhibitors as a New Therapeutic Strategy in Treatment Resistant Epilepsy in Hemimegalencephaly: A Case Report. 61
30514132 2019
23
Evidence for Innate and Adaptive Immune Responses in a Cohort of Intractable Pediatric Epilepsy Surgery Patients. 61
30761153 2019
24
Malformations of Cerebral Cortex Development: Molecules and Mechanisms. 61
30677308 2019
25
The Space-Time Continuum of Cortical Dysplasia. 61
30838928 2019
26
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. 61
30497135 2018
27
Dysplastic megalencephaly phenotype presenting with prenatal high-output cardiac failure. 61
29594439 2018
28
Brain Somatic Mutations in MTOR Disrupt Neuronal Ciliogenesis, Leading to Focal Cortical Dyslamination. 61
29937275 2018
29
The 2016 Bernard Sachs Lecture: Timing in Morphogenesis and Genetic Gradients During Normal Development and in Malformations of the Nervous System. 61
29778488 2018
30
Hemimyoclonus: A rare presentation of hemimegalencephaly. 61
29503339 2018
31
Review: Mechanistic target of rapamycin (mTOR) pathway, focal cortical dysplasia and epilepsy. 61
29359340 2018
32
Dysplasia and overgrowth: magnetic resonance imaging of pediatric brain abnormalities secondary to alterations in the mechanistic target of rapamycin pathway. 61
29279945 2018
33
Hemimegalencephaly with Bannayan-Riley-Ruvalcaba syndrome. 61
29444762 2018
34
Targeting the Mammalian Target of Rapamycin for Epileptic Encephalopathies and Malformations of Cortical Development. 61
29246093 2018
35
Contribution of Altered Endocannabinoid System to Overactive mTORC1 Signaling in Focal Cortical Dysplasia. 61
30687088 2018
36
Posterior Quadrantic Dysplasia: MRI Diagnosis of a Lesser Known Cause of Pediatric Intractable Epilepsy. 61
29899786 2018
37
Hemimegalencephaly: Seizure Outcome in an Infant after Hemispherectomy. 61
29899784 2018
38
What to do in failed hemispherotomy? Our clinical series and review of the literature. 61
28799142 2018
39
Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias. 61
29281825 2017
40
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly. 61
28969385 2017
41
Hemimegalencephaly with intractable epilepsy: A case report. 61
28924292 2017
42
Somatic uniparental disomy of Chromosome 16p in hemimegalencephaly. 61
28864461 2017
43
Ictal PET in Ohtahara Syndrome With Hemimegalencephaly. 61
28195914 2017
44
Pathologic Active mTOR Mutation in Brain Malformation with Intractable Epilepsy Leads to Cell-Autonomous Migration Delay. 61
28427592 2017
45
A Case of Epilepsia Partialis Continua Due to Linear Nevus Syndrome with Hemimegalencephaly. 61
28904588 2017
46
"Endovascular embolic hemispherectomy": a strategy for the initial management of catastrophic holohemispheric epilepsy in the neonate. 61
27796549 2017
47
Electrophysiological Sequelae of Hemispherotomy in Ipsilateral Human Cortex. 61
28424599 2017
48
Evolution of epilepsy in hemimegalencephaly from infancy to adulthood: Case report and review of the literature. 61
28377884 2017
49
Delayed diagnosis of shunt overdrainage following functional hemispherotomy and ventriculoperitoneal shunt placement in a hemimegalencephaly patient. 61
28348960 2017
50
Proteus Syndrome with Neurological Manifestations: A Rare Presentation. 61
28553400 2017

Variations for Hemimegalencephaly

ClinVar genetic disease variations for Hemimegalencephaly:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 subset of 390 genes: CREBBP , GRIN2A , PKD1 , PRRT2 , RBFOX1 , SETD1A , SH2B1 , SRCAP , TSC2 maternal UPD(16p)complex Pathogenic 375693 16:1280042-33710558
2 SCN1A NM_006920.6(SCN1A):c.3294dup (p.Ser1099fs)duplication Pathogenic 599005 rs1559193213 2:166892659-166892660 2:166036149-166036150
3 MTOR NM_004958.4(MTOR):c.4447T>C (p.Cys1483Arg)SNV Pathogenic/Likely pathogenic 374796 rs1057519914 1:11217231-11217231 1:11157174-11157174
4 RHEB NM_005614.4(RHEB):c.119A>T (p.Glu40Val)SNV Likely pathogenic 545666 rs1554438588 7:151188034-151188034 7:151490948-151490948
5 RPS6 NM_001010.3(RPS6):c.695G>A (p.Arg232His)SNV Uncertain significance 631553 9:19376346-19376346 9:19376348-19376348
6 PIK3CA NM_006218.4(PIK3CA):c.1059+12T>ASNV Uncertain significance 374062 rs200627037 3:178921589-178921589 3:179203801-179203801
7 GRIN1 NM_007327.4(GRIN1):c.1198-19G>CSNV Uncertain significance 523497 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 84)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.07 RPS6 PIK3CA MYC MTOR GRIN1 GFAP
2
Show member pathways
13.47 RPS6 PIK3CA MYC MTOR MAP2 AKT3
3
Show member pathways
13.05 PIK3CA MYC CTNNB1 CCND1 AKT3
4
Show member pathways
12.9 PIK3CA MYC MTOR CTNNB1 CCND1 AKT3
5
Show member pathways
12.86 RPS6 PIK3CA MYC MTOR CTNNB1 CCND1
6
Show member pathways
12.83 PIK3CA MYC MTOR CTNNB1 CCND1 AKT3
7
Show member pathways
12.8 RPS6 PIK3CA MTOR AKT3
8 12.8 PIK3CA MYC MTOR CTNNB1 CCND1 AKT3
9
Show member pathways
12.76 PIK3CA MYC CCND1 AKT3
10
Show member pathways
12.74 RPS6 PIK3CA MYC MTOR CCND1 AKT3
11
Show member pathways
12.71 SCN1A PIK3CA GRIN1 AKT3
12
Show member pathways
12.69 PIK3CA MYC MTOR CTNNB1 CCND1 AKT3
13
Show member pathways
12.68 PIK3CA GRIN1 CTNNB1 AKT3
14
Show member pathways
12.66 PIK3CA MTOR CTNNB1 AKT3
15
Show member pathways
12.63 PIK3CA MTOR CTNNB1 CCND1 AKT3
16
Show member pathways
12.62 PIK3CA MTOR CCND1 AKT3
17 12.55 SCN1A MAP2 GRIN1 GFAP
18
Show member pathways
12.55 PIK3CA MYC CTNNB1 AKT3
19
Show member pathways
12.55 MYC MTOR CTNNB1 CCND1 AKT3
20
Show member pathways
12.53 RPS6 PIK3CA MYC MTOR CCND1 AKT3
21 12.5 PIK3CA MYC MTOR CCND1
22
Show member pathways
12.5 PIK3CA MYC MTOR CTNNB1 AKT3
23
Show member pathways
12.47 RPS6 PIK3CA MTOR AKT3
24
Show member pathways
12.43 RPS6 PIK3CA MTOR CCND1 AKT3
25
Show member pathways
12.42 PIK3CA MTOR CTNNB1 AKT3
26 12.39 MYC CTNNB1 CCND1 AKT3
27 12.33 PIK3CA MYC CCND1 AKT3
28
Show member pathways
12.32 PIK3CA MYC CTNNB1 CCND1 AKT3
29
Show member pathways
12.3 RPS6 PIK3CA MYC MTOR CCND1 AKT3
30
Show member pathways
12.21 PIK3CA MTOR CTNNB1 AKT3
31
Show member pathways
12.18 MYC CTNNB1 CCND1
32
Show member pathways
12.17 RPS6 MTOR MAP2
33 12.16 MYC MTOR CTNNB1 CCND1
34 12.15 MYC CTNNB1 CCND1
35 12.14 MAP2 GRIN1 CTNNB1
36
Show member pathways
12.13 PIK3CA MTOR AKT3
37 12.13 RPS6 MTOR GRIN1 CTNNB1
38 12.13 PIK3CA MYC MTOR CCND1 AKT3
39
Show member pathways
12.12 PIK3CA MTOR CTNNB1
40
Show member pathways
12.12 RPS6 PIK3CA MYC MTOR CCND1 AKT3
41 12.11 MYC CTNNB1 CCND1
42 12.11 PIK3CA MYC CTNNB1 AKT3
43
Show member pathways
12.1 PIK3CA MTOR AKT3
44
Show member pathways
12.1 PIK3CA MYC AKT3
45 12.1 RPS6 MTOR CCND1 AKT3
46
Show member pathways
12.09 RPS6 PIK3CA MYC MTOR CCND1 AKT3
47 12.05 PIK3CA CTNNB1 AKT3
48
Show member pathways
12.05 PIK3CA CCND1 AKT3
49 12.05 PIK3CA MTOR AKT3
50
Show member pathways
12.03 RPS6 PIK3CA MYC

GO Terms for Hemimegalencephaly

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

# Name GO ID Score Top Affiliating Genes
1 dendrite GO:0030425 9.46 RPS6 MTOR MAP2 GRIN1
2 axon initial segment GO:0043194 8.96 SCN1A MAP2
3 cell body GO:0044297 8.8 RPS6 MAP2 GFAP

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 beta-catenin-TCF complex assembly GO:1904837 9.49 MYC CTNNB1
2 vasculature development GO:0001944 9.48 PIK3CA CTNNB1
3 positive regulation of mesenchymal cell proliferation GO:0002053 9.46 MYC CTNNB1
4 regulation of myelination GO:0031641 9.43 MTOR CTNNB1
5 positive regulation of glial cell proliferation GO:0060252 9.4 MTOR GFAP
6 TOR signaling GO:0031929 9.37 RPS6 MTOR
7 regulation of osteoclast differentiation GO:0045670 9.32 MTOR CTNNB1
8 energy reserve metabolic process GO:0006112 9.26 MYC MTOR
9 negative regulation of macroautophagy GO:0016242 9.16 PIK3CA MTOR
10 anoikis GO:0043276 8.96 PIK3CA MTOR
11 G1/S transition of mitotic cell cycle GO:0000082 8.8 RPS6 MYC CCND1

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 RPS6 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 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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