MCID: HMM003
MIFTS: 51

Hemimegalencephaly

Categories: Fetal diseases, Neuronal diseases, Rare diseases, Skin diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Hemimegalencephaly

MalaCards integrated aliases for Hemimegalencephaly:

Name: Hemimegalencephaly 19 58 75 28 5 71
Unilateral Megalencephaly 19 58
Macrencephaly 19

Characteristics:


Age Of Onset:

Infancy 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Hemimegalencephaly

Orphanet: 58 Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis (see these terms). Management includes seizure control by antiepileptic medications and early hemispherectomy.

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 Cellular responses to stimuli and PIP3 activates AKT signaling. Affiliated tissues include brain, cortex and olfactory bulb, and related phenotypes are hyperintensity of cerebral white matter on mri and ventriculomegaly

GARD: 19 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. 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.

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 216)
# Related Disease Score Top Affiliating Genes
1 megalencephaly-capillary malformation-polymicrogyria syndrome 31.9 PIK3CA AKT3
2 megalencephaly 31.2 PTEN PIK3CA MTOR AKT3
3 hypomelanosis of ito 30.5 DEPDC5 AKT3
4 tuberous sclerosis 30.5 RHEB PIK3CA MTOR
5 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 30.3 PTEN PIK3CA MTOR AKT3
6 klippel-trenaunay-weber syndrome 30.2 PTEN PIK3CA MTOR AKT3
7 lipomatosis 30.1 PTEN PIK3CA
8 nevus, epidermal 30.1 PTEN PIK3CA MTOR AKT3
9 hydrocephalus 30.1 PTEN MTOR AKT3
10 west syndrome 29.8 SCN1A PTEN MTOR DEPDC5
11 ohtahara syndrome 29.8 SCN1A LOC102724058
12 epilepsy, familial focal, with variable foci 1 29.8 NPRL3 DEPDC5
13 lipomatosis, multiple 29.8 PTEN PIK3CA
14 proteus syndrome 29.7 RHEB PTEN PIK3CA MTOR AKT3
15 neuronal migration disorders 29.6 SCN1A LOC102724058
16 focal epilepsy 29.4 SCN1A NPRL3 DEPDC5
17 polymicrogyria 29.4 SCN1A PTEN PIK3CA LOC102724058 AKT3
18 febrile seizures 29.4 SCN1A LOC102724058
19 hypertelorism 29.3 SCN1A PIK3CA LOC102724058
20 sturge-weber syndrome 29.1 SCN1A PIK3CA DEPDC5
21 cowden syndrome 1 28.9 RHEB PTEN PIK3CA MTOR AKT3
22 autism spectrum disorder 28.6 SCN1A RHEB PTEN MTOR AKT3
23 autism 27.5 SCN1A RHEB PTEN NPRL3 MTOR LOC102724058
24 stratton-parker syndrome 11.1
25 schimmelpenning-feuerstein-mims syndrome 11.0
26 isolated megalencephaly 11.0
27 smith-kingsmore syndrome 11.0
28 tuberous sclerosis 2 10.5
29 tuberous sclerosis 1 10.5
30 hemihyperplasia, isolated 10.4
31 visual epilepsy 10.4
32 epilepsy 10.3
33 status epilepticus 10.3
34 weber syndrome 10.3
35 hemifacial hyperplasia 10.3
36 lissencephaly 10.3
37 early infantile epileptic encephalopathy 10.3
38 overgrowth syndrome 10.3
39 angioosteohypertrophic syndrome 10.2
40 fanconi anemia, complementation group e 10.2
41 developmental and epileptic encephalopathy 7 10.2
42 generalized lymphatic anomaly 10.2 PIK3CA MTOR
43 macrocephaly/autism syndrome 10.1 PTEN AKT3
44 hydrocephalus, congenital, 1 10.1
45 facial infiltrating lipomatosis 10.1
46 schizophrenia 13 10.1 NPRL3 DEPDC5
47 lung oat cell carcinoma 10.1 PTEN PIK3CA
48 kidney angiomyolipoma 10.1 RHEB MTOR
49 thyroid tumor 10.1 PTEN PIK3CA
50 breast juvenile papillomatosis 10.1 PTEN PIK3CA

Graphical network of the top 20 diseases related to Hemimegalencephaly:



Diseases related to Hemimegalencephaly

Symptoms & Phenotypes for Hemimegalencephaly

Human phenotypes related to Hemimegalencephaly:

58 30 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperintensity of cerebral white matter on mri 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0030890
2 ventriculomegaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0002119
3 polymicrogyria 58 30 Frequent (33%) Frequent (79-30%)
HP:0002126
4 cranial asymmetry 58 30 Frequent (33%) Frequent (79-30%)
HP:0000267
5 eeg with polyspike wave complexes 58 30 Frequent (33%) Frequent (79-30%)
HP:0002392
6 eeg with burst suppression 58 30 Frequent (33%) Frequent (79-30%)
HP:0010851
7 eeg with focal sharp slow waves 58 30 Frequent (33%) Frequent (79-30%)
HP:0011195
8 eeg with focal spikes 58 30 Frequent (33%) Frequent (79-30%)
HP:0011193
9 focal cortical dysplasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0032046
10 hemimegalencephaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0007206
11 hemihypsarrhythmia 58 30 Frequent (33%) Frequent (79-30%)
HP:0011215
12 global developmental delay 30 Frequent (33%) HP:0001263
13 macrocephaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000256
14 optic atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000648
15 intellectual disability, severe 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010864
16 myoclonus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001336
17 pachygyria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001302
18 status epilepticus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002133
19 gray matter heterotopia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002282
20 hemiparesis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001269
21 hemianopia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012377
22 functional motor deficit 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004302
23 oculomotor nerve palsy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012246
24 gliosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002171
25 focal tonic seizure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011167
26 abnormal neuron morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012757
27 atonic seizure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010819
28 epileptic spasm 30 Occasional (7.5%) HP:0011097
29 seizures 58 Very frequent (99-80%)
30 cranial nerve paralysis 58 Occasional (29-5%)
31 abnormal skull morphology 58 Frequent (79-30%)
32 psychomotor retardation 58 Frequent (79-30%)
33 focal motor seizure 58 Frequent (79-30%)
34 epileptic spasms 58 Occasional (29-5%)
35 interictal eeg abnormality 58 Very frequent (99-80%)

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

25 (show all 23)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.93 MTOR PIK3CA
2 Decreased viability GR00055-A-2 9.93 MTOR PIK3CA
3 Decreased viability GR00221-A-1 9.93 AKT3 MTOR PIK3CA RHEB
4 Decreased viability GR00221-A-2 9.93 AKT3 PIK3CA
5 Decreased viability GR00221-A-3 9.93 AKT3
6 Decreased viability GR00221-A-4 9.93 AKT3 MTOR PIK3CA
7 Decreased viability GR00301-A 9.93 AKT3
8 Decreased viability GR00342-S-1 9.93 MTOR
9 Decreased viability GR00342-S-2 9.93 MTOR
10 Decreased viability GR00386-A-1 9.93 RHEB
11 Decreased viability GR00402-S-2 9.93 PIK3CA
12 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.8 MTOR RHEB
13 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.8 PTEN
14 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.8 PTEN
15 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.8 PTEN
16 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.8 PTEN
17 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.8 PTEN
18 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.8 MTOR PIK3CA
19 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.8 PTEN RHEB
20 Increased shRNA abundance (Z-score > 2) GR00366-A-66 9.8 PTEN
21 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.8 MTOR
22 Increased shRNA abundance (Z-score > 2) GR00366-A-87 9.8 PTEN
23 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.8 PTEN

MGI Mouse Phenotypes related to Hemimegalencephaly:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.87 AKT3 DEPDC5 MTOR PIK3CA PTEN RHEB
2 growth/size/body region MP:0005378 9.76 AKT3 DEPDC5 MTOR NPRL3 PIK3CA PTEN
3 muscle MP:0005369 9.65 MTOR NPRL3 PIK3CA PTEN RHEB
4 cardiovascular system MP:0005385 9.5 AKT3 MTOR NPRL3 PIK3CA PTEN RHEB
5 mortality/aging MP:0010768 9.23 AKT3 DEPDC5 MTOR NPRL3 PIK3CA PTEN

Drugs & Therapeutics for Hemimegalencephaly

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Use of a Tonometer to Identify Focal Cortical Dysplasia and Tuberous Sclerosis Complex During Pediatric Epilepsy Surgery Recruiting NCT04344626
2 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 28

Anatomical Context for Hemimegalencephaly

Organs/tissues related to Hemimegalencephaly:

MalaCards : Brain, Cortex, Olfactory Bulb, Temporal Lobe, Cerebellum, Fetal Brain, T Cells

Publications for Hemimegalencephaly

Articles related to Hemimegalencephaly:

(show top 50) (show all 581)
# Title Authors PMID Year
1
The changing landscape in epilepsy imaging: Unmasking subtle and unique entities. 62
35997478 2022
2
Refractory neonatal seizures caused by hemimegalencephaly. 62
36104033 2022
3
Somatic variants in diverse genes leads to a spectrum of focal cortical malformations. 62
35441233 2022
4
Hemimegalencephaly: Evolution From an Atypical Focal Early Appearance on Fetal MRI to More Conventional MR Findings. 62
36120272 2022
5
Prevalence and Risk Factors for Pharmacoresistance in Children With Focal Cortical Dysplasia-Related Epilepsy. 62
35985831 2022
6
Functional hemispherotomy for epilepsy in the very young. 62
35932273 2022
7
Hemispherectomy for hemimegalencephaly in a 6.5-week-old infant with tuberous sclerosis complex. 62
35022853 2022
8
A rare case of hemimegalencephaly diagnosed prenatally. 62
35894497 2022
9
Periodic cycles of seizure clustering and suppression in children with epilepsy strongly suggest focal cortical dysplasia. 62
35871498 2022
10
Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care. 62
35355055 2022
11
Prenatal MR Imaging Phenotype of Fetuses with Tuberous Sclerosis: An Institutional Case Series and Literature Review. 62
35332020 2022
12
The utility of cerebrospinal fluid-derived cell-free DNA in molecular diagnostics for the PIK3CA-related megalencephaly-capillary malformation (MCAP) syndrome: a case report. 62
35483878 2022
13
Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K-AKT-mTOR signaling pathway. 62
34170046 2022
14
Magnetic Resonance Imaging of Malformations of Cortical Development-A Comprehensive Review. 62
34896352 2022
15
Adult Hemimegalencephaly with Migraine as the First Symptom. 62
35532662 2022
16
Treatment of two infants with PIK3CA-related overgrowth spectrum by alpelisib. 62
35080595 2022
17
Efficacy of Ketamine Use in Refractory Status Epilepticus Associated With Hemimegalencephaly. 62
35226636 2022
18
Viral expression of constitutively active AKT3 induces CST axonal sprouting and regeneration, but also promotes seizures. 62
34953897 2022
19
Infection-Induced Elevated Plasma Perampanel in a Patient with Hemimegalencephaly. 62
35529828 2022
20
Functional cognitive and language outcomes after cerebral hemispherectomy for hemimegalencephaly. 62
34608636 2021
21
Hemimegalencephaly: A rare congenital malformation of cortical development. 62
34976397 2021
22
Identification of a recurrent mosaic KRAS variant in brain tissue from an individual with nevus sebaceous syndrome. 62
34649968 2021
23
Postoperative seizure and developmental outcomes of children with hemimegalencephaly and drug-resistant epilepsy. 62
34416421 2021
24
Neuroimaging and genetic characteristics of malformation of cortical development due to mTOR pathway dysregulation: clues for the epileptogenic lesions and indications for epilepsy surgery. 62
33754929 2021
25
PTEN somatic mutations contribute to spectrum of cerebral overgrowth. 62
34048549 2021
26
Epilepsy Surgery: Special Circumstances. 62
34620459 2021
27
Vertical parasagittal hemispherotomy: a case report of postoperative mesio-temporal seizures via amygdalofugal pathway. 62
34291381 2021
28
Role of epilepsy surgery in refractory status epilepticus in children. 62
34474240 2021
29
[Genotype and phenotype of children with DEPDC5 gene variants related epilepsy]. 62
34587683 2021
30
Ictal and Interictal Arterial Spin Labelling (ASL) in Hemimegalencephaly. 62
35002138 2021
31
Epilepsy surgery in infants up to 3 months of age: Safety, feasibility, and outcomes: A multicenter, multinational study. 62
34128544 2021
32
Epilepsy surgery in children under 3 years of age: surgical and developmental outcomes. 62
34388720 2021
33
Epileptic children with hemispheres' asymmetry. Quantitative brain magnetic resonance-based analysis of apparently unaffected hemisphere. Case-control study. 62
33892221 2021
34
The Fetus with Ganglionic Eminence Abnormality: Head Size and Extracranial Sonographic Findings Predict Genetic Diagnoses and Postnatal Outcomes. 62
33958329 2021
35
Precision Therapy for Epilepsy Related to Brain Malformations. 62
34608615 2021
36
Hemispherotomy for Epilepsy: The Procedure Evolution and Outcome. 62
32998781 2021
37
Neurodevelopmental Findings and Epilepsy in Malformations of Cortical Development. 62
35005731 2021
38
Brain Tissue Low-Level Mosaicism for MTOR Mutation Causes Smith-Kingsmore Phenotype with Recurrent Hypoglycemia-A Novel Phenotype and a Further Proof for Testing of an Affected Tissue. 62
34359351 2021
39
Endoscopic Hemispherotomy for Nonatrophic Rasmussen's Encephalopathy. 62
34507398 2021
40
Hemimegalencephaly and intractable seizures associated with the NPRL3 gene variant in a newborn: A case report. 62
33749980 2021
41
Detection of Brain Somatic Mutations in Cerebrospinal Fluid from Refractory Epilepsy Patients. 62
33834539 2021
42
Ganglionic Eminence Anomalies and Coexisting Cerebral Developmental Anomalies on Fetal MR Imaging: Multicenter-Based Review of 60 Cases. 62
33707279 2021
43
A new case of Smith-Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth. 62
33506498 2021
44
Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome. 62
33639990 2021
45
Neurite Outgrowth Inhibitor (NogoA) Is Upregulated in White Matter Lesions of Complex Cortical Malformations. 62
33517425 2021
46
Gradient of brain mosaic RHEB variants causes a continuum of cortical dysplasia. 62
33434304 2021
47
Failed Hemispherotomy: Insights from Our Early Experience in 40 Patients. 62
33171323 2021
48
Case Report: Hemispherotomy in the First Days of Life to Treat Drug-Resistant Lesional Epilepsy. 62
35002946 2021
49
[Lessons learnt from 101 hemispheric pediatric epilepsy surgeries part ii: pitfalls and complications]. 62
34951759 2021
50
Custom Pediatric Oncology Next-Generation Sequencing Panel Identifies Somatic Mosaicism in Archival Tissue and Enhances Targeted Clinical Care. 62
33221597 2021

Variations for Hemimegalencephaly

ClinVar genetic disease variations for Hemimegalencephaly:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 390 genes maternal UPD(16p) COMPLEX Pathogenic
375693 GRCh37: 16:1280042-33710558
GRCh38:
2 PTEN NM_000314.8(PTEN):c.255_262delinsC (p.Ala86fs) INDEL Pathogenic
1048543 GRCh37: 10:89692771-89692778
GRCh38: 10:87933014-87933021
3 PTEN NM_000314.8(PTEN):c.1110_1111dup (p.Asp371fs) DUP Pathogenic
1048544 GRCh37: 10:89725125-89725126
GRCh38: 10:87965368-87965369
4 SCN1A, LOC102724058 NM_001165963.4(SCN1A):c.3327dup (p.Ser1110fs) DUP Pathogenic
599005 rs1559193213 GRCh37: 2:166892659-166892660
GRCh38: 2:166036149-166036150
5 MTOR NM_004958.4(MTOR):c.4447T>C (p.Cys1483Arg) SNV Pathogenic
374796 rs1057519914 GRCh37: 1:11217231-11217231
GRCh38: 1:11157174-11157174
6 RHEB NM_005614.4(RHEB):c.119A>T (p.Glu40Val) SNV Likely Pathogenic
545666 rs1554438588 GRCh37: 7:151188034-151188034
GRCh38: 7:151490948-151490948
7 RPS6 NM_001010.3(RPS6):c.695G>A (p.Arg232His) SNV Uncertain Significance
631553 rs748611445 GRCh37: 9:19376346-19376346
GRCh38: 9:19376348-19376348
8 GRIN1 NM_007327.4(GRIN1):c.1198-19G>C SNV Uncertain Significance
523497 rs757759855 GRCh37: 9:140055489-140055489
GRCh38: 9:137161037-137161037
9 PIK3CA NM_006218.4(PIK3CA):c.1059+12T>A SNV Uncertain Significance
374062 rs200627037 GRCh37: 3:178921589-178921589
GRCh38: 3:179203801-179203801

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 54)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.3 RHEB NPRL3 MTOR DEPDC5 AKT3
2
Show member pathways
12.91 RHEB PTEN PIK3CA MTOR AKT3
3
Show member pathways
12.8 RHEB PTEN PIK3CA MTOR AKT3
4
Show member pathways
12.79 RHEB PTEN MTOR AKT3
5
Show member pathways
12.76 AKT3 MTOR PIK3CA PTEN RHEB
6
Show member pathways
12.7 PTEN PIK3CA MTOR AKT3
7
Show member pathways
12.7 PTEN PIK3CA MTOR AKT3
8
Show member pathways
12.62 RHEB PTEN PIK3CA MTOR AKT3
9
Show member pathways
12.55 RHEB PTEN PIK3CA MTOR AKT3
10
Show member pathways
12.54 PTEN PIK3CA MTOR AKT3
11 12.53 RHEB PTEN PIK3CA MTOR AKT3
12
Show member pathways
12.39 RHEB PTEN PIK3CA MTOR
13
Show member pathways
12.35 PIK3CA MTOR AKT3
14
Show member pathways
12.33 PTEN PIK3CA MTOR AKT3
15
Show member pathways
12.32 PTEN PIK3CA AKT3
16
Show member pathways
12.29 PIK3CA MTOR AKT3
17
Show member pathways
12.25 PIK3CA MTOR AKT3
18
Show member pathways
12.2 PTEN PIK3CA MTOR AKT3
19
Show member pathways
12.19 PTEN PIK3CA AKT3
20
Show member pathways
12.17 PIK3CA MTOR AKT3
21 12.14 PTEN PIK3CA AKT3
22
Show member pathways
12.13 MTOR PIK3CA PTEN
23
Show member pathways
12.09 RHEB PIK3CA MTOR AKT3
24
Show member pathways
12.05 MTOR PIK3CA PTEN RHEB
25
Show member pathways
12.02 PTEN PIK3CA MTOR AKT3
26
Show member pathways
12.02 RHEB PTEN PIK3CA MTOR AKT3
27 12.01 RHEB PTEN MTOR
28
Show member pathways
12.01 RHEB PIK3CA MTOR AKT3
29 11.95 PTEN MTOR AKT3
30 11.95 AKT3 MTOR PTEN RHEB
31
Show member pathways
11.92 RHEB PTEN MTOR
32
Show member pathways
11.86 AKT3 PIK3CA PTEN
33
Show member pathways
11.83 RHEB PTEN PIK3CA MTOR AKT3
34 11.79 PTEN PIK3CA AKT3
35 11.73 RHEB PTEN MTOR
36 11.72 RHEB PTEN PIK3CA AKT3
37 11.64 RHEB PTEN MTOR AKT3
38 11.59 AKT3 MTOR PIK3CA RHEB
39
Show member pathways
11.52 RHEB PIK3CA MTOR AKT3
40 11.4 RHEB MTOR
41 11.38 PTEN PIK3CA
42
Show member pathways
11.34 RHEB PTEN MTOR AKT3
43 11.29 PTEN PIK3CA
44 11.29 MTOR AKT3
45 11.26 PTEN MTOR
46 11.2 MTOR PIK3CA
47 11.18 PIK3CA MTOR
48 11.15 PTEN PIK3CA
49 11.13 PIK3CA MTOR
50 11.01 PIK3CA MTOR

GO Terms for Hemimegalencephaly

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

# Name GO ID Score Top Affiliating Genes
1 lysosomal membrane GO:0005765 9.56 RHEB NPRL3 MTOR DEPDC5
2 GATOR1 complex GO:1990130 8.92 NPRL3 DEPDC5

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

# Name GO ID Score Top Affiliating Genes
1 brain morphogenesis GO:0048854 9.76 PTEN AKT3
2 regulation of protein kinase B signaling GO:0051896 9.73 PTEN MTOR
3 negative regulation of macroautophagy GO:0016242 9.71 PIK3CA MTOR
4 anoikis GO:0043276 9.67 PIK3CA MTOR
5 cellular response to amino acid starvation GO:0034198 9.63 NPRL3 MTOR DEPDC5
6 TORC1 signaling GO:0038202 9.62 NPRL3 MTOR
7 negative regulation of cell size GO:0045792 9.56 MTOR PTEN
8 positive regulation of TOR signaling GO:0032008 9.43 RHEB PIK3CA AKT3
9 cardiac muscle tissue development GO:0048738 9.02 PTEN NPRL3 MTOR

Sources for Hemimegalencephaly

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....