MCID: HMM003
MIFTS: 48

Hemimegalencephaly

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hemimegalencephaly

MalaCards integrated aliases for Hemimegalencephaly:

Name: Hemimegalencephaly 54 60 38 30 6 74
Unilateral Megalencephaly 54 60
Macrencephaly 54 55

Characteristics:

Orphanet epidemiological data:

60
hemimegalencephaly
Inheritance: Not applicable; Age of onset: Infancy;

Classifications:



External Ids:

KEGG 38 H01833
ICD10 via Orphanet 35 Q04.5
UMLS via Orphanet 75 C0431391
Orphanet 60 ORPHA99802
UMLS 74 C0431391

Summaries for Hemimegalencephaly

NINDS : 55 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 tuberous sclerosis. 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 shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

NIH Rare Diseases : 54 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.

Wikipedia : 77 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 138)
# Related Disease Score Top Affiliating Genes
1 megalencephaly 32.0 AKT3 MTOR PIK3CA
2 tuberous sclerosis 30.3 GFAP MTOR PIK3CA RHEB
3 megalencephaly-capillary malformation-polymicrogyria syndrome 29.8 AKT3 PIK3CA
4 dysembryoplastic neuroepithelial tumor 29.6 GFAP GRIN1 MAP2
5 glioblastoma 29.0 AKT3 CCND1 MTOR MYC PIK3CA
6 glioblastoma multiforme 28.6 AKT3 CCND1 GFAP MTOR MYC PIK3CA
7 klippel-trenaunay-weber syndrome 11.4
8 isolated megalencephaly 11.1
9 schimmelpenning-feuerstein-mims syndrome 11.1
10 smith-kingsmore syndrome 11.1
11 pik3ca-related overgrowth spectrum 11.1
12 short stature wormian bones dextrocardia 11.1
13 epilepsy 10.4
14 dermatosis papulosa nigra 10.4 MTOR PIK3CA
15 hemihyperplasia, isolated 10.3
16 pancreatic neuroendocrine tumor 10.3 MTOR PIK3CA
17 adult hepatocellular carcinoma 10.3 CTNNB1 PIK3CA
18 large intestine adenocarcinoma 10.3 CTNNB1 MTOR
19 prostate transitional cell carcinoma 10.3 CTNNB1 PIK3CA
20 ethmoid sinus cancer 10.3 CCND1 PIK3CA
21 ethmoid sinus adenocarcinoma 10.3 CCND1 PIK3CA
22 monoclonal paraproteinemia 10.3 CCND1 MTOR
23 hepatic angiomyolipoma 10.3 MTOR MYC
24 clear cell adenofibroma 10.3 MTOR PIK3CA
25 subependymal glioma 10.3 GFAP MTOR
26 weber syndrome 10.2
27 angioosteohypertrophic syndrome 10.2
28 benign ependymoma 10.2 GFAP MTOR
29 lung acinar adenocarcinoma 10.2 CTNNB1 MYC
30 ovarian clear cell adenocarcinoma 10.2 MTOR PIK3CA
31 nodular medulloblastoma 10.2 CTNNB1 GFAP
32 myasthenic syndrome, congenital, 14 10.2 MYC PIK3CA
33 nevus, epidermal 10.2
34 hypomelanosis of ito 10.2
35 rosette-forming glioneuronal tumor 10.2 MAP2 PIK3CA
36 kidney angiomyolipoma 10.2 MTOR RHEB
37 plasmablastic lymphoma 10.2 MTOR MYC
38 estrogen-receptor positive breast cancer 10.2 CCND1 MTOR PIK3CA
39 chiari malformation 10.2 GFAP MAP2
40 tuberous sclerosis 1 10.2
41 lipomatosis 10.2
42 uterine anomalies 10.2 CCND1 CTNNB1 PIK3CA
43 polydactyly, postaxial, type a1 10.1
44 uterine corpus cancer 10.1 MYC PIK3CA
45 proteus syndrome 10.1
46 facial infiltrating lipomatosis 10.1
47 ohtahara syndrome 10.1
48 atypical teratoid rhabdoid tumor 10.1 CCND1 CTNNB1 GFAP
49 subependymal giant cell astrocytoma 10.1 GFAP MTOR
50 brain ischemia 10.1 GFAP MAP2

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:

27 (show top 50) (show all 62)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 10.5 CCND1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-144 10.5 MYC
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 10.5 MYC
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 10.5 RHEB MTOR MYC
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 10.5 CCND1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 10.5 SCN1A
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 10.5 CCND1 SCN1A
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 10.5 CCND1 PIK3CA RHEB SCN1A
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 10.5 MYC
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 10.5 CCND1 PIK3CA MTOR
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 10.5 SCN1A
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 10.5 PIK3CA AKT3 MTOR MYC
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-62 10.5 SCN1A
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-66 10.5 RHEB
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 10.5 AKT3
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 10.5 CCND1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.47 MTOR RHEB
18 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.47 CTNNB1 MTOR RHEB
19 Increased shRNA abundance (Z-score > 2) GR00366-A-113 10.47 CTNNB1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-116 10.47 PIK3CA
21 Increased shRNA abundance (Z-score > 2) GR00366-A-126 10.47 CCND1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-152 10.47 CCND1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-157 10.47 PIK3CA
24 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.47 CCND1 PIK3CA MTOR RHEB
25 Increased shRNA abundance (Z-score > 2) GR00366-A-163 10.47 CCND1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.47 PIK3CA
27 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.47 CCND1 CTNNB1 PIK3CA SCN1A
28 Increased shRNA abundance (Z-score > 2) GR00366-A-178 10.47 SCN1A
29 Increased shRNA abundance (Z-score > 2) GR00366-A-186 10.47 SCN1A
30 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.47 PIK3CA
31 Increased shRNA abundance (Z-score > 2) GR00366-A-197 10.47 CTNNB1
32 Increased shRNA abundance (Z-score > 2) GR00366-A-199 10.47 CCND1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-21 10.47 CCND1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-210 10.47 CCND1
35 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.47 SCN1A
36 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.47 CCND1
37 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.47 SCN1A
38 Increased shRNA abundance (Z-score > 2) GR00366-A-36 10.47 CCND1
39 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.47 PIK3CA MTOR RHEB
40 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.47 CTNNB1
41 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.47 CTNNB1 PIK3CA
42 Increased shRNA abundance (Z-score > 2) GR00366-A-57 10.47 RHEB
43 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.47 RHEB
44 Increased shRNA abundance (Z-score > 2) GR00366-A-67 10.47 CTNNB1
45 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.47 CTNNB1 MTOR
46 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.47 CTNNB1
47 Increased shRNA abundance (Z-score > 2) GR00366-A-79 10.47 CTNNB1
48 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.47 MTOR
49 Increased shRNA abundance (Z-score > 2) GR00366-A-93 10.47 SCN1A
50 Increased shRNA abundance (Z-score > 2) GR00366-A-99 10.47 SCN1A

MGI Mouse Phenotypes related to Hemimegalencephaly:

47 (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 30

Anatomical Context for Hemimegalencephaly

MalaCards organs/tissues related to Hemimegalencephaly:

42
Brain, Cortex, Spinal Cord, Bone, Cerebellum, Skin, Heart

Publications for Hemimegalencephaly

Articles related to Hemimegalencephaly:

(show top 50) (show all 228)
# Title Authors Year
1
Inclusion of hemimegalencephaly into the phenotypic spectrum of NPRL3 pathogenic variants in familial focal epilepsy with variable foci. ( 31111464 )
2019
2
Late adult-onset epilepsy in a patient with hemimegalencephaly. ( 30977727 )
2019
3
mTOR Inhibitors as a New Therapeutic Strategy in Treatment Resistant Epilepsy in Hemimegalencephaly: A Case Report. ( 30514132 )
2019
4
Application of Automated Brain Segmentation and Fiber Tracking in Hemimegalencephaly. ( 30665473 )
2019
5
Disrupted cortico-ponto-cerebellar pathway in patients with hemimegalencephaly. ( 30665821 )
2019
6
Posterior quadrantic dysplasia with localized hemimegalencephaly in a patient with giant congenital melanocytic nevus: First case report. ( 30794039 )
2019
7
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. ( 30414531 )
2018
8
Hemimegalencephaly with Bannayan-Riley-Ruvalcaba syndrome. ( 29444762 )
2018
9
Hemimyoclonus: A rare presentation of hemimegalencephaly. ( 29503339 )
2018
10
Hemimegalencephaly: Seizure Outcome in an Infant after Hemispherectomy. ( 29899784 )
2018
11
Ictal PET in Ohtahara Syndrome With Hemimegalencephaly. ( 28195914 )
2017
12
Delayed diagnosis of shunt overdrainage following functional hemispherotomy and ventriculoperitoneal shunt placement in a hemimegalencephaly patient. ( 28348960 )
2017
13
Evolution of epilepsy in hemimegalencephaly from infancy to adulthood: Case report and review of the literature. ( 28377884 )
2017
14
Somatic uniparental disomy of Chromosome 16p in hemimegalencephaly. ( 28864461 )
2017
15
A Case of Epilepsia Partialis Continua Due to Linear Nevus Syndrome with Hemimegalencephaly. ( 28904588 )
2017
16
Hemimegalencephaly with intractable epilepsy: A case report. ( 28924292 )
2017
17
Brain Inflammation in an Infant With Hemimegalencephaly, Escalating Seizures, and Epileptic Encephalopathy. ( 28503608 )
2016
18
Hemimegalencephaly with polymicrogyria - a case report. ( 27152083 )
2016
19
Adult hemimegalencephaly associated with multiple cerebral aneurysms. ( 26078402 )
2015
20
Infantile tauopathies: Hemimegalencephaly; tuberous sclerosis complex; focal cortical dysplasia 2; ganglioglioma. ( 25451314 )
2015
21
Glioblastoma Multiforme in a Patient with Isolated Hemimegalencephaly. ( 26251796 )
2015
22
Early modified functional hemispherectomy in a young infant with Ohtahara syndrome and hemimegalencephaly. ( 25028415 )
2015
23
Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia. ( 25599672 )
2015
24
Magnetic Resonance Fiber Tracking in a Neonate with Hemimegalencephaly. ( 25655045 )
2015
25
Neurocutaneous melanocytosis, hemimegalencephaly and large ovarian cyst in a newborn. ( 25686869 )
2015
26
Hemımegalencephaly assocıated wıth fetal cardıac faılure and hydrops. ( 25710787 )
2015
27
Ohtahara syndrome associated with hemimegalencephaly and intracranial lipoma. ( 26167232 )
2015
28
Hemispherotomy in an infant with hemimegalencephaly. ( 26167233 )
2015
29
Hemispherectomy for Hemimegalencephaly Due to Tuberous Sclerosis and a Review of the Literature. ( 26231267 )
2015
30
Fetal hemimegalencephaly. ( 26238918 )
2015
31
Utility of diffusion tensor imaging parameters for diagnosis of hemimegalencephaly. ( 26481187 )
2015
32
Unilateral hypertrophic skin lesions, hemimegalencephaly, and meningioma: The many faces of Proteus syndrome. ( 26500869 )
2015
33
The diagnosis of hemimegalencephaly using in utero MRI. ( 24631281 )
2014
34
Megalencephaly and hemimegalencephaly: breakthroughs in molecular etiology. ( 24888963 )
2014
35
Happle-Tinschert syndrome: report of a case with hemimegalencephaly. ( 25053915 )
2014
36
Isolated hemimegalencephaly in an adult. ( 25288864 )
2014
37
Hemispheric dysplasia and hemimegalencephaly: imaging definitions. ( 25296542 )
2014
38
Unilateral holohemispheric central nervous system lesions associated with medically refractory epilepsy in the pediatric population: a retrospective series of hemimegalencephaly and Rasmussen's encephalitis. ( 25303156 )
2014
39
Hemimegalencephaly with Facial Congenital Infiltrating Lipomatosis in a Child. ( 26171364 )
2014
40
Hemimegalencephaly in a patient with coexisting trisomy 21 and hypomelanosis of Ito. ( 23266943 )
2014
41
Prenatal diagnosis of hemimegalencephaly. ( 24056222 )
2014
42
Accelerated myelination along fiber tracts in patients with hemimegalencephaly. ( 24091102 )
2014
43
Hemimegalencephaly: what happens when children get older? ( 24494819 )
2014
44
Hemimegalencephaly without epilepsy: case report. ( 24589886 )
2014
45
Hemimegalencephaly, a paradigm for somatic postzygotic neurodevelopmental disorders. ( 23449172 )
2013
46
Periodic lateralized triphasic waves in an adult with isolated hemimegalencephaly. ( 23466853 )
2013
47
Increased Ki-67 immunoreactivity in the white matter in hemimegalencephaly. ( 23721782 )
2013
48
Long-term developmental outcome after early hemispherotomy for hemimegalencephaly in infants with epileptic encephalopathy. ( 23933627 )
2013
49
Hemimegalencephaly: A rare cause of hemihypoperfusion on 99m technetium-ethyl cysteinate dimer brain perfusion single-photon emission computed tomography. ( 24163513 )
2013
50
Hemimegalencephaly in an adult with normal intellectual function and mild epilepsy. ( 22188130 )
2012

Variations for Hemimegalencephaly

ClinVar genetic disease variations for Hemimegalencephaly:

6 (show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 PIK3CA NM_006218.3(PIK3CA): c.1059+12T> A single nucleotide variant Uncertain significance rs200627037 GRCh38 Chromosome 3, 179203801: 179203801
2 PIK3CA NM_006218.3(PIK3CA): c.1059+12T> A single nucleotide variant Uncertain significance rs200627037 GRCh37 Chromosome 3, 178921589: 178921589
3 MTOR NM_004958.3(MTOR): c.4447T> C (p.Cys1483Arg) single nucleotide variant Pathogenic/Likely pathogenic rs1057519914 GRCh38 Chromosome 1, 11157174: 11157174
4 MTOR NM_004958.3(MTOR): c.4447T> C (p.Cys1483Arg) single nucleotide variant Pathogenic/Likely pathogenic rs1057519914 GRCh37 Chromosome 1, 11217231: 11217231
5 subset of 390 genes:CREBBP; GRIN2A; PKD1; PRRT2; RBFOX1; SETD1A; SH2B1; SRCAP; TSC2 maternal UPD(16p) complex Pathogenic GRCh37 Chromosome 16, 1280042: 33710558
6 GRIN1 NM_007327.3(GRIN1): c.1198-19G> C single nucleotide variant Uncertain significance rs757759855 GRCh37 Chromosome 9, 140055489: 140055489
7 GRIN1 NM_007327.3(GRIN1): c.1198-19G> C single nucleotide variant Uncertain significance rs757759855 GRCh38 Chromosome 9, 137161037: 137161037
8 RHEB NM_005614.3(RHEB): c.119A> T (p.Glu40Val) single nucleotide variant Likely pathogenic rs1554438588 GRCh37 Chromosome 7, 151188034: 151188034
9 RHEB NM_005614.3(RHEB): c.119A> T (p.Glu40Val) single nucleotide variant Likely pathogenic rs1554438588 GRCh38 Chromosome 7, 151490948: 151490948
10 SCN1A NM_001202435.2(SCN1A): c.3327dup (p.Ser1110Glnfs) duplication Pathogenic GRCh38 Chromosome 2, 166036150: 166036150
11 SCN1A NM_001202435.2(SCN1A): c.3327dup (p.Ser1110Glnfs) duplication Pathogenic GRCh37 Chromosome 2, 166892659: 166892660

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 93)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.09 AKT3 CCND1 CTNNB1 GFAP GRIN1 MTOR
2
Show member pathways
13.77 AKT3 CCND1 CTNNB1 GFAP MTOR MYC
3
Show member pathways
12.91 AKT3 CTNNB1 MTOR PIK3CA RHEB
4
Show member pathways
12.9 AKT3 CCND1 CTNNB1 MTOR MYC PIK3CA
5
Show member pathways
12.9 AKT3 CCND1 CTNNB1 MTOR MYC PIK3CA
6
Show member pathways
12.84 AKT3 MTOR PIK3CA RHEB
7
Show member pathways
12.84 AKT3 CCND1 CTNNB1 PIK3CA
8 12.8 AKT3 CCND1 CTNNB1 MTOR MYC PIK3CA
9
Show member pathways
12.76 AKT3 CCND1 MTOR MYC PIK3CA
10
Show member pathways
12.73 AKT3 CCND1 CTNNB1 MTOR MYC PIK3CA
11
Show member pathways
12.69 AKT3 CTNNB1 GRIN1 PIK3CA
12
Show member pathways
12.69 AKT3 CCND1 CTNNB1 MTOR MYC PIK3CA
13
Show member pathways
12.67 AKT3 CTNNB1 MTOR PIK3CA
14
Show member pathways
12.65 AKT3 CCND1 MTOR PIK3CA
15
Show member pathways
12.63 AKT3 CCND1 CTNNB1 MTOR PIK3CA RHEB
16
Show member pathways
12.58 AKT3 CCND1 CTNNB1 MTOR MYC
17
Show member pathways
12.58 AKT3 CCND1 MTOR MYC PIK3CA
18
Show member pathways
12.56 AKT3 CTNNB1 MYC PIK3CA
19 12.56 GFAP GRIN1 MAP2 SCN1A
20 12.49 CCND1 MTOR MYC PIK3CA
21
Show member pathways
12.48 AKT3 CCND1 MTOR MYC PIK3CA
22
Show member pathways
12.47 AKT3 MTOR PIK3CA RHEB
23
Show member pathways
12.46 AKT3 CCND1 CTNNB1 MTOR MYC PIK3CA
24
Show member pathways
12.42 AKT3 CTNNB1 MTOR PIK3CA
25
Show member pathways
12.42 AKT3 CCND1 MTOR PIK3CA RHEB
26 12.4 AKT3 CCND1 CTNNB1 MYC
27
Show member pathways
12.38 AKT3 MTOR PIK3CA RHEB
28 12.34 AKT3 CCND1 CTNNB1 MYC PIK3CA
29
Show member pathways
12.32 AKT3 CCND1 CTNNB1 MYC PIK3CA
30
Show member pathways
12.32 AKT3 CCND1 GFAP MTOR MYC PIK3CA
31
Show member pathways
12.28 AKT3 MTOR PIK3CA
32
Show member pathways
12.27 AKT3 CCND1 PIK3CA
33 12.27 AKT3 GRIN1 PIK3CA
34
Show member pathways
12.21 AKT3 CTNNB1 MTOR PIK3CA
35
Show member pathways
12.18 AKT3 MTOR PIK3CA RHEB
36
Show member pathways
12.18 AKT3 CCND1 MTOR MYC PIK3CA RHEB
37 12.15 CCND1 CTNNB1 MYC
38 12.14 CTNNB1 GRIN1 MAP2
39
Show member pathways
12.14 AKT3 MTOR PIK3CA RHEB
40
Show member pathways
12.13 CTNNB1 MTOR PIK3CA
41
Show member pathways
12.13 AKT3 MTOR PIK3CA RHEB
42 12.12 CCND1 CTNNB1 MYC
43 12.12 CCND1 CTNNB1 MTOR MYC RHEB
44
Show member pathways
12.11 AKT3 MYC PIK3CA
45 12.1 AKT3 CTNNB1 MYC PIK3CA
46 12.08 CTNNB1 GRIN1 MTOR
47 12.07 AKT3 CTNNB1 PIK3CA
48
Show member pathways
12.07 AKT3 CCND1 CTNNB1 MTOR PIK3CA
49
Show member pathways
12.06 AKT3 CCND1 PIK3CA
50 12.06 AKT3 CCND1 MTOR

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 AKT3 CCND1 CTNNB1 GFAP GRIN1 MTOR
2 cytoplasm GO:0005737 9.32 AKT3 CCND1 CTNNB1 GFAP GRIN1 MAP2
3 axon initial segment GO:0043194 9.16 MAP2 SCN1A
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 MTOR MYC RHEB
2 response to morphine GO:0043278 9.57 GRIN1 MTOR
3 beta-catenin-TCF complex assembly GO:1904837 9.56 CTNNB1 MYC
4 regulation of axonogenesis GO:0050770 9.55 GRIN1 MAP2
5 positive regulation of mesenchymal cell proliferation GO:0002053 9.54 CTNNB1 MYC
6 response to ethanol GO:0045471 9.54 CCND1 GRIN1 MYC
7 vasculature development GO:0001944 9.52 CTNNB1 PIK3CA
8 positive regulation of oligodendrocyte differentiation GO:0048714 9.51 MTOR RHEB
9 response to estradiol GO:0032355 9.5 CCND1 CTNNB1 MYC
10 regulation of myelination GO:0031641 9.48 CTNNB1 MTOR
11 energy reserve metabolic process GO:0006112 9.46 MTOR MYC
12 regulation of osteoclast differentiation GO:0045670 9.43 CTNNB1 MTOR
13 negative regulation of macroautophagy GO:0016242 9.4 MTOR PIK3CA
14 anoikis GO:0043276 9.26 MTOR PIK3CA
15 re-entry into mitotic cell cycle GO:0000320 9.16 CCND1 MYC
16 positive regulation of TOR signaling GO:0032008 9.13 AKT3 PIK3CA RHEB
17 positive regulation of glial cell proliferation GO:0060252 8.8 GFAP MTOR MYC

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 CCND1 CTNNB1 MTOR RHEB
2 protein-containing complex binding GO:0044877 8.92 CCND1 GRIN1 MTOR MYC

Sources for Hemimegalencephaly

3 CDC
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75 UMLS via Orphanet
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