MCID: HMM003
MIFTS: 46

Hemimegalencephaly

Categories: Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Hemimegalencephaly

MalaCards integrated aliases for Hemimegalencephaly:

Name: Hemimegalencephaly 53 59 37 29 6 73
Unilateral Megalencephaly 53 59
Macrencephaly 53 54

Characteristics:

Orphanet epidemiological data:

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

Classifications:



External Ids:

Orphanet 59 ORPHA99802
UMLS via Orphanet 74 C0431391
ICD10 via Orphanet 34 Q04.5
KEGG 37 H01833
UMLS 73 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 proteus syndrome. An important gene associated with Hemimegalencephaly is PIK3CA (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha), 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.

Related Diseases for Hemimegalencephaly

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

(show top 50) (show all 118)
# Related Disease Score Top Affiliating Genes
1 megalencephaly 31.9 AKT3 MTOR PIK3CA
2 proteus syndrome 30.3 AKT3 PIK3CA
3 tuberous sclerosis 30.1 GFAP MTOR PIK3CA
4 dysembryoplastic neuroepithelial tumor 29.7 GFAP MAP2
5 ganglioglioma 28.9 GFAP MAP2
6 glioblastoma 27.3 AKT3 CCND1 MTOR MYC PIK3CA
7 glioblastoma multiforme 26.2 AKT3 CCND1 GFAP MTOR MYC PIK3CA
8 klippel-trenaunay-weber syndrome 11.3
9 schimmelpenning-feuerstein-mims syndrome 10.9
10 dermatosis papulosa nigra 10.6 MTOR PIK3CA
11 pancreatic neuroendocrine tumor 10.6 MTOR PIK3CA
12 large intestine adenocarcinoma 10.6 CTNNB1 MTOR
13 clear cell adenofibroma 10.6 MTOR PIK3CA
14 adult hepatocellular carcinoma 10.6 CTNNB1 PIK3CA
15 prostate transitional cell carcinoma 10.6 CTNNB1 PIK3CA
16 ovarian clear cell adenocarcinoma 10.5 MTOR PIK3CA
17 ethmoid sinus cancer 10.5 CCND1 PIK3CA
18 ethmoid sinus adenocarcinoma 10.5 CCND1 PIK3CA
19 squamous cell carcinoma of the oral tongue 10.4 CCND1 PIK3CA
20 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 10.4 CTNNB1 PIK3CA
21 cutis marmorata telangiectatica congenita 10.4 AKT3 PIK3CA
22 megalencephaly-capillary malformation-polymicrogyria syndrome 10.4 AKT3 PIK3CA
23 rosette-forming glioneuronal tumor 10.4 MAP2 PIK3CA
24 keratosis, seborrheic 10.4 MTOR PIK3CA
25 subependymal glioma 10.3 GFAP MTOR
26 epstein-barr virus-associated gastric carcinoma 10.3 CTNNB1 PIK3CA
27 polymorphous low-grade adenocarcinoma 10.3 CCND1 CTNNB1
28 benign ependymoma 10.3 GFAP MTOR
29 subependymal giant cell astrocytoma 10.2 GFAP MTOR
30 epilepsy 10.2
31 nodular medulloblastoma 10.2 CTNNB1 GFAP
32 gastrointestinal system benign neoplasm 10.2 CCND1 CTNNB1
33 cerebritis 10.1
34 estrogen-receptor positive breast cancer 10.1 CCND1 MTOR PIK3CA
35 chiari malformation 10.1 GFAP MAP2
36 weber syndrome 10.1
37 hepatic angiomyolipoma 10.1 MTOR MYC
38 intestinal benign neoplasm 10.1 CCND1 CTNNB1
39 nevus, epidermal 10.1
40 hypomelanosis of ito 10.1
41 pleomorphic xanthoastrocytoma 10.1 GFAP MAP2
42 alexander disease 10.1 GFAP MTOR
43 brain ischemia 10.0 GFAP MAP2
44 tuberous sclerosis 1 10.0
45 lipomatosis 10.0
46 myasthenic syndrome, congenital, 14 10.0 MYC PIK3CA
47 plasmablastic lymphoma 10.0 MTOR MYC
48 bladder urothelial carcinoma 10.0 CCND1 CTNNB1 PIK3CA
49 lung acinar adenocarcinoma 10.0 CTNNB1 MYC
50 central neurocytoma 10.0 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:

26 (show all 43)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.16 MTOR PIK3CA
2 Decreased viability GR00221-A-1 10.16 MTOR AKT3 PIK3CA MYC
3 Decreased viability GR00221-A-2 10.16 AKT3 PIK3CA
4 Decreased viability GR00221-A-3 10.16 AKT3 MYC
5 Decreased viability GR00221-A-4 10.16 MTOR AKT3 PIK3CA
6 Decreased viability GR00301-A 10.16 AKT3
7 Decreased viability GR00342-S-1 10.16 MTOR
8 Decreased viability GR00342-S-2 10.16 MTOR
9 Decreased viability GR00402-S-2 10.16 MTOR AKT3 PIK3CA MYC
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-144 10.07 MYC
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 10.07 MYC
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 10.07 MYC MTOR
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 10.07 PIK3CA
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 10.07 MYC
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 10.07 MTOR PIK3CA
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 10.07 MYC AKT3 MTOR PIK3CA
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 10.07 AKT3
18 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.94 MTOR
19 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.94 MTOR
20 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.94 MAP2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.94 PIK3CA
22 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.94 CCND1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.94 CCND1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.94 PIK3CA
25 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.94 CCND1 MTOR PIK3CA
26 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.94 CCND1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.94 PIK3CA
28 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.94 MAP2
29 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.94 CCND1 PIK3CA
30 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.94 MYC
31 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.94 PIK3CA
32 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.94 CCND1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.94 CCND1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-210 9.94 CCND1
35 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.94 MYC
36 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.94 CCND1 MAP2 MYC
37 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.94 CCND1
38 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.94 MTOR PIK3CA
39 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.94 PIK3CA
40 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.94 MTOR MYC
41 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.94 MTOR
42 Decreased cell migration GR00055-A-1 9.62 CTNNB1 AKT3 MTOR PIK3CA
43 Increased cell migration GR00055-A-3 9.13 MTOR CTNNB1 PIK3CA

MGI Mouse Phenotypes related to Hemimegalencephaly:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.13 CCND1 MAP2 CTNNB1 MTOR AKT3 GFAP
2 growth/size/body region MP:0005378 10.06 GFAP CCND1 MAP2 CTNNB1 AKT3 MYC
3 cardiovascular system MP:0005385 10.05 GFAP CCND1 CTNNB1 AKT3 MYC PIK3CA
4 cellular MP:0005384 10.04 GFAP CCND1 CTNNB1 AKT3 MYC PIK3CA
5 endocrine/exocrine gland MP:0005379 10.02 CCND1 MAP2 CTNNB1 MTOR AKT3 MYC
6 homeostasis/metabolism MP:0005376 9.98 AKT3 GFAP CCND1 CTNNB1 MYC PIK3CA
7 mortality/aging MP:0010768 9.97 GFAP CCND1 MAP2 CTNNB1 AKT3 MYC
8 immune system MP:0005387 9.95 GFAP CCND1 CTNNB1 AKT3 MYC PIK3CA
9 nervous system MP:0003631 9.76 GFAP CCND1 MAP2 CTNNB1 MTOR AKT3
10 muscle MP:0005369 9.72 GFAP CTNNB1 MYC PIK3CA MTOR
11 neoplasm MP:0002006 9.65 CCND1 CTNNB1 AKT3 MYC PIK3CA
12 normal MP:0002873 9.43 GFAP CCND1 CTNNB1 AKT3 MYC MTOR
13 reproductive system MP:0005389 9.1 AKT3 CCND1 MAP2 CTNNB1 MYC PIK3CA

Drugs & Therapeutics for Hemimegalencephaly

Search Clinical Trials , 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, Skin

Publications for Hemimegalencephaly

Articles related to Hemimegalencephaly:

(show top 50) (show all 216)
# Title Authors Year
1
Hemimyoclonus: A rare presentation of hemimegalencephaly. ( 29503339 )
2018
2
Hemimegalencephaly with Bannayan-Riley-Ruvalcaba syndrome. ( 29444762 )
2018
3
Hemimegalencephaly: Seizure Outcome in an Infant after Hemispherectomy. ( 29899784 )
2018
4
Ictal PET in Ohtahara Syndrome With Hemimegalencephaly. ( 28195914 )
2017
5
Somatic uniparental disomy of Chromosome 16p in hemimegalencephaly. ( 28864461 )
2017
6
Evolution of epilepsy in hemimegalencephaly from infancy to adulthood: Case report and review of the literature. ( 28377884 )
2017
7
A Case of Epilepsia Partialis Continua Due to Linear Nevus Syndrome with Hemimegalencephaly. ( 28904588 )
2017
8
Delayed diagnosis of shunt overdrainage following functional hemispherotomy and ventriculoperitoneal shunt placement in a hemimegalencephaly patient. ( 28348960 )
2017
9
Hemimegalencephaly with intractable epilepsy: A case report. ( 28924292 )
2017
10
Hemimegalencephaly with polymicrogyria - a case report. ( 27152083 )
2016
11
Brain Inflammation in an Infant With Hemimegalencephaly, Escalating Seizures, and Epileptic Encephalopathy. ( 28503608 )
2016
12
Hemispherectomy for Hemimegalencephaly Due to Tuberous Sclerosis and a Review of the Literature. ( 26231267 )
2015
13
Fetal hemimegalencephaly. ( 26238918 )
2015
14
Utility of diffusion tensor imaging parameters for diagnosis of hemimegalencephaly. ( 26481187 )
2015
15
Magnetic Resonance Fiber Tracking in a Neonate with Hemimegalencephaly. ( 25655045 )
2015
16
Unilateral hypertrophic skin lesions, hemimegalencephaly, and meningioma: The many faces of Proteus syndrome. ( 26500869 )
2015
17
Hemispherotomy in an infant with hemimegalencephaly. ( 26167233 )
2015
18
Adult hemimegalencephaly associated with multiple cerebral aneurysms. ( 26078402 )
2015
19
Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia. ( 25599672 )
2015
20
Glioblastoma Multiforme in a Patient with Isolated Hemimegalencephaly. ( 26251796 )
2015
21
Neurocutaneous melanocytosis, hemimegalencephaly and large ovarian cyst in a newborn. ( 25686869 )
2015
22
Ohtahara syndrome associated with hemimegalencephaly and intracranial lipoma. ( 26167232 )
2015
23
Infantile tauopathies: Hemimegalencephaly; tuberous sclerosis complex; focal cortical dysplasia 2; ganglioglioma. ( 25451314 )
2014
24
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
25
Happle-Tinschert syndrome: report of a case with hemimegalencephaly. ( 25053915 )
2014
26
The diagnosis of hemimegalencephaly using in utero MRI. ( 24631281 )
2014
27
Megalencephaly and hemimegalencephaly: breakthroughs in molecular etiology. ( 24888963 )
2014
28
Hemispheric dysplasia and hemimegalencephaly: imaging definitions. ( 25296542 )
2014
29
Hemimegalencephaly: what happens when children get older? ( 24494819 )
2014
30
Hemimegalencephaly with Facial Congenital Infiltrating Lipomatosis in a Child. ( 26171364 )
2014
31
Hemimegalencephaly without epilepsy: case report. ( 24589886 )
2014
32
Isolated hemimegalencephaly in an adult. ( 25288864 )
2014
33
Early Modified Functional Hemispherectomy in a Young Infant with Ohtahara Syndrome and Hemimegalencephaly. ( 25028415 )
2014
34
Increased Ki-67 immunoreactivity in the white matter in hemimegalencephaly. ( 23721782 )
2013
35
Accelerated myelination along fiber tracts in patients with hemimegalencephaly. ( 24091102 )
2013
36
Long-term developmental outcome after early hemispherotomy for hemimegalencephaly in infants with epileptic encephalopathy. ( 23933627 )
2013
37
Periodic lateralized triphasic waves in an adult with isolated hemimegalencephaly. ( 23466853 )
2013
38
Hemimegalencephaly, a paradigm for somatic postzygotic neurodevelopmental disorders. ( 23449172 )
2013
39
Hemimegalencephaly: A rare cause of hemihypoperfusion on 99m technetium-ethyl cysteinate dimer brain perfusion single-photon emission computed tomography. ( 24163513 )
2013
40
Case Report: Prenatal diagnosis of hemimegalencephaly. ( 24056222 )
2013
41
Hemimegalencephaly in a Patient With Coexisting Trisomy 21 and Hypomelanosis of Ito. ( 23266943 )
2012
42
Abnormal maturation and differentiation of neocortical neurons in epileptogenic cortical malformation: unique distribution of layer-specific marker cells of focal cortical dysplasia and hemimegalencephaly. ( 22759905 )
2012
43
Hemimegalencephaly accompanied by myoclonic status epilepticus. ( 22704019 )
2012
44
Hemimegalencephaly: foetal tauopathy with mTOR hyperactivation and neuronal lipidosis. ( 23319189 )
2012
45
Postoperative EEG in hemimegalencephaly. ( 23221395 )
2012
46
De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. ( 22729223 )
2012
47
Hemimegalencephaly in an adult with normal intellectual function and mild epilepsy. ( 22188130 )
2012
48
Klippel-trenaunay-weber syndrome with hemimegalencephaly; report of a pediatric case. ( 23056878 )
2012
49
Hemimegalencephaly associated with congenital infiltrating lipomatosis of the face: a case report. ( 22991064 )
2012
50
Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype. ( 21204234 )
2011

Variations for Hemimegalencephaly

ClinVar genetic disease variations for Hemimegalencephaly:

6
# 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

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 AKT3 CCND1 CTNNB1 GFAP MTOR MYC
2
Show member pathways
13.71 AKT3 CCND1 CTNNB1 GFAP MTOR MYC
3
Show member pathways
12.9 AKT3 CCND1 CTNNB1 MTOR MYC PIK3CA
4
Show member pathways
12.82 AKT3 CCND1 MTOR MYC PIK3CA
5
Show member pathways
12.81 AKT3 CCND1 CTNNB1 PIK3CA
6
Show member pathways
12.79 AKT3 CCND1 CTNNB1 MTOR MYC PIK3CA
7 12.72 AKT3 CCND1 CTNNB1 MTOR MYC PIK3CA
8
Show member pathways
12.69 AKT3 CCND1 MTOR PIK3CA
9
Show member pathways
12.64 AKT3 CTNNB1 MTOR PIK3CA
10
Show member pathways
12.64 AKT3 CCND1 CTNNB1 MTOR MYC PIK3CA
11
Show member pathways
12.61 AKT3 CCND1 CTNNB1 MTOR PIK3CA
12
Show member pathways
12.55 AKT3 CCND1 CTNNB1 MTOR MYC
13
Show member pathways
12.52 AKT3 CTNNB1 MYC PIK3CA
14 12.45 CCND1 MTOR MYC PIK3CA
15
Show member pathways
12.45 AKT3 CCND1 MTOR MYC PIK3CA
16
Show member pathways
12.43 AKT3 CCND1 MTOR MYC PIK3CA
17
Show member pathways
12.4 AKT3 MTOR PIK3CA
18
Show member pathways
12.4 AKT3 CCND1 CTNNB1 MTOR MYC PIK3CA
19
Show member pathways
12.38 AKT3 CTNNB1 MTOR PIK3CA
20 12.38 AKT3 CCND1 CTNNB1 MYC PIK3CA
21
Show member pathways
12.37 AKT3 CCND1 MTOR PIK3CA
22
Show member pathways
12.33 AKT3 CCND1 CTNNB1 MTOR MYC PIK3CA
23
Show member pathways
12.32 AKT3 MTOR PIK3CA
24
Show member pathways
12.32 AKT3 CTNNB1 PIK3CA
25
Show member pathways
12.3 AKT3 MYC PIK3CA
26
Show member pathways
12.26 AKT3 MTOR PIK3CA
27
Show member pathways
12.26 AKT3 CCND1 CTNNB1 MYC PIK3CA
28
Show member pathways
12.25 AKT3 CCND1 PIK3CA
29
Show member pathways
12.23 AKT3 CCND1 GFAP MTOR MYC PIK3CA
30 12.22 AKT3 MYC PIK3CA
31
Show member pathways
12.2 CTNNB1 MTOR PIK3CA
32
Show member pathways
12.18 AKT3 CTNNB1 MTOR PIK3CA
33 12.13 CCND1 CTNNB1 MYC
34
Show member pathways
12.12 AKT3 MTOR PIK3CA
35 12.12 CCND1 CTNNB1 MTOR MYC
36
Show member pathways
12.11 CTNNB1 MTOR PIK3CA
37 12.1 AKT3 CCND1 MTOR MYC PIK3CA
38 12.09 CCND1 CTNNB1 MYC
39
Show member pathways
12.08 AKT3 MYC PIK3CA
40
Show member pathways
12.08 AKT3 MTOR PIK3CA
41 12.08 AKT3 CCND1 MTOR MYC PIK3CA
42
Show member pathways
12.07 AKT3 MTOR PIK3CA
43 12.06 AKT3 CTNNB1 MYC PIK3CA
44 12.04 AKT3 CTNNB1 PIK3CA
45
Show member pathways
12.04 AKT3 CCND1 PIK3CA
46
Show member pathways
12.04 CCND1 MTOR MYC
47 12.03 AKT3 CCND1 MTOR
48
Show member pathways
12.02 AKT3 CCND1 CTNNB1 MTOR PIK3CA
49
Show member pathways
12.01 AKT3 MTOR MYC PIK3CA
50 12 AKT3 MTOR PIK3CA

GO Terms for Hemimegalencephaly

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

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.8 CCND1 CTNNB1 GFAP MAP2 MTOR MYC
2 cytoplasm GO:0005737 9.76 AKT3 CCND1 CTNNB1 GFAP MAP2 MTOR
3 intracellular GO:0005622 9.1 AKT3 CCND1 CTNNB1 GFAP MAP2 PIK3CA
4 phosphatidylinositol 3-kinase complex GO:0005942 8.96 MTOR PIK3CA

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 9.78 AKT3 CCND1 MTOR PIK3CA
2 regulation of gene expression GO:0010468 9.71 CTNNB1 MYC PIK3CA
3 cardiac muscle contraction GO:0060048 9.61 MTOR PIK3CA
4 regulation of protein kinase activity GO:0045859 9.61 CCND1 MTOR
5 positive regulation of epithelial to mesenchymal transition GO:0010718 9.6 CTNNB1 MTOR
6 branching involved in ureteric bud morphogenesis GO:0001658 9.59 CTNNB1 MYC
7 beta-catenin-TCF complex assembly GO:1904837 9.58 CTNNB1 MYC
8 positive regulation of cell cycle GO:0045787 9.58 CCND1 MYC
9 cellular response to organic substance GO:0071310 9.57 CCND1 MAP2
10 liver regeneration GO:0097421 9.56 CCND1 MYC
11 positive regulation of telomerase activity GO:0051973 9.55 CTNNB1 MYC
12 positive regulation of TOR signaling GO:0032008 9.52 AKT3 PIK3CA
13 positive regulation of mesenchymal cell proliferation GO:0002053 9.51 CTNNB1 MYC
14 vasculature development GO:0001944 9.49 CTNNB1 PIK3CA
15 regulation of osteoclast differentiation GO:0045670 9.46 CTNNB1 MTOR
16 regulation of myelination GO:0031641 9.43 CTNNB1 MTOR
17 response to estradiol GO:0032355 9.43 CCND1 CTNNB1 MYC
18 energy reserve metabolic process GO:0006112 9.4 MTOR MYC
19 negative regulation of macroautophagy GO:0016242 9.37 MTOR PIK3CA
20 canonical Wnt signaling pathway GO:0060070 9.33 CCND1 CTNNB1 MYC
21 anoikis GO:0043276 9.32 MTOR PIK3CA
22 re-entry into mitotic cell cycle GO:0000320 8.96 CCND1 MYC
23 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 repressing transcription factor binding GO:0070491 9.16 CTNNB1 MYC
2 binding GO:0005488 9.13 CTNNB1 MTOR PIK3CA
3 kinase activity GO:0016301 8.92 AKT3 CCND1 MTOR PIK3CA

Sources for Hemimegalencephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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