MCID: MGL013
MIFTS: 53

Megalencephaly

Categories: Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Megalencephaly

Summaries for Megalencephaly

NINDS : 51 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 : Megalencephaly, also known as macroencephaly, is related to megalencephaly-capillary malformation-polymicrogyria syndrome, somatic and polyhydramnios, megalencephaly, and symptomatic epilepsy, and has symptoms including long penis, macroorchidism and abnormality of the fontanelles or cranial sutures. An important gene associated with Megalencephaly is CCND2 (Cyclin D2), and among its related pathways/superpathways are Regulation of TP53 Activity and Regulation of lipid metabolism Insulin signaling-generic cascades. The drugs Everolimus and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and cortex, and related phenotypes are Decreased viability and behavior/neurological

Wikipedia : 72 Megalencephaly (or macrencephaly, abbreviated MEG) is a growth development disorder in which the brain... more...

Related Diseases for Megalencephaly

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

(show top 50) (show all 86)
id Related Disease Score Top Affiliating Genes
1 megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 12.3
2 polyhydramnios, megalencephaly, and symptomatic epilepsy 12.2
3 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 12.2
4 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 12.1
5 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 12.1
6 macrocephaly/megalencephaly syndrome, autosomal recessive 12.1
7 leukoencephalopathy, cystic, without megalencephaly 12.1
8 hemimegalencephaly 11.9
9 mpph syndrome 11.9
10 isolated megalencephaly 11.8
11 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, somatic 11.7
12 focal alopecia congenital megalencephaly 11.7
13 megalencephalic leukoencephalopathy with subcortical cysts 11.6
14 rnase t2-deficient leukoencephalopathy 11.4
15 cowden syndrome 1 11.3
16 alexander disease 11.3
17 cowden syndrome 5 10.8 AKT3 PIK3CA
18 mental retardation, autosomal recessive 34, with variant lissencephaly 10.7
19 waisman syndrome 10.7
20 neurofaciodigitorenal syndrome 10.7
21 macrocephaly, dysmorphic facies, and psychomotor retardation 10.7
22 macrocephaly, benign familial 10.7
23 fibroepithelial polyp of the anus 10.7 PIK3CA PTEN
24 malignant hyperthermia susceptibility 10.6 AKT3 CCND2 PIK3R2
25 phototoxic dermatitis 10.6 MTOR PIK3CA
26 papular mucinosis 10.6 MTOR PIK3CA
27 oligodontia-colorectal cancer syndrome 10.5 STK11 STRADA
28 hemoglobinemia 10.5 AKT3 MTOR PIK3CA
29 trachea squamous cell carcinoma 10.4 PIK3CA PIK3R2 PTEN
30 immune-mediated encephalomyelitis 10.4 PTEN S100B
31 cowden syndrome 6 10.3 AKT3 PIK3CA PIK3R2 PTEN
32 sclerosing keratitis 10.3 EIF2B5 MLC1 PIK3R2
33 simple cryoglobulinemia 10.3 S100B SST
34 polymicrogyria 10.2
35 ovarian mucinous cystadenofibroma 10.2 PTEN S100B
36 hydrocephalus 10.2
37 glomus tympanicum tumor 10.2 AKT3 MTOR PIK3CA PTEN
38 polydactyly 10.2
39 invasive malignant thymoma 10.1 PTEN S100B
40 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 10.1 PIK3CA PTEN SST
41 grade iii astrocytoma 10.1 PIK3R2 PTEN S100B
42 perianal hematoma 10.1 CCK SST
43 cerebritis 10.0
44 epilepsy 9.9
45 neuronitis 9.9
46 focal cortical dysplasia, type ii, somatic 9.9 MTOR TSC1
47 tuberous sclerosis 9.9
48 achondroplasia 9.8
49 autism spectrum disorder 9.8
50 leukodystrophy 9.8

Graphical network of the top 20 diseases related to Megalencephaly:



Diseases related to Megalencephaly

Symptoms & Phenotypes for Megalencephaly

Human phenotypes related to Megalencephaly:

56 32 (show all 18)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 long penis 56 32 frequent (33%) Frequent (79-30%) HP:0000040
2 macroorchidism 56 32 frequent (33%) Frequent (79-30%) HP:0000053
3 abnormality of the fontanelles or cranial sutures 56 32 hallmark (90%) Very frequent (99-80%) HP:0000235
4 macrocephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000256
5 dolichocephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000268
6 prominent occiput 56 32 hallmark (90%) Very frequent (99-80%) HP:0000269
7 pointed chin 56 32 hallmark (90%) Very frequent (99-80%) HP:0000307
8 wide nasal bridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0000431
9 short neck 56 32 hallmark (90%) Very frequent (99-80%) HP:0000470
10 deeply set eye 56 32 hallmark (90%) Very frequent (99-80%) HP:0000490
11 intellectual disability 56 32 hallmark (90%) Very frequent (99-80%) HP:0001249
12 truncal obesity 56 32 hallmark (90%) Very frequent (99-80%) HP:0001956
13 frontal bossing 56 32 hallmark (90%) Very frequent (99-80%) HP:0002007
14 delayed skeletal maturation 56 32 hallmark (90%) Very frequent (99-80%) HP:0002750
15 genu valgum 56 32 frequent (33%) Frequent (79-30%) HP:0002857
16 atria septal defect 56 Frequent (79-30%)
17 megalencephaly 32 HP:0001355
18 atrial septal defect 32 frequent (33%) HP:0001631

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.48 PIK3CA MTOR
2 Decreased viability GR00173-A 10.48 PIK3R2
3 Decreased viability GR00221-A-1 10.48 PIK3CA MTOR PIK3R2 AKT3 STRADA
4 Decreased viability GR00221-A-2 10.48 PIK3CA AKT3 PIK3R2 STRADA TSC1
5 Decreased viability GR00221-A-3 10.48 AKT3 STRADA TSC1
6 Decreased viability GR00221-A-4 10.48 PIK3CA MTOR PIK3R2 AKT3 STRADA
7 Decreased viability GR00301-A 10.48 AKT3 PIK3R2 TSC1
8 Decreased viability GR00342-S-1 10.48 MTOR
9 Decreased viability GR00342-S-2 10.48 MTOR
10 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.78 MTOR
11 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.78 MTOR
12 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.78 TSC1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.78 PTEN
14 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.78 PTEN
15 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.78 PIK3CA
16 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.78 MTOR PIK3CA PTEN
17 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.78 PIK3CA
18 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.78 PTEN
19 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.78 RNASET2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.78 PIK3CA
21 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.78 RNASET2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.78 PIK3CA
23 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.78 RNASET2 PTEN
24 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.78 MTOR PIK3CA PTEN RNASET2 TSC1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.78 PIK3CA
26 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.78 PTEN
27 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.78 MTOR RNASET2
28 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.78 TSC1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.78 MTOR
30 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.78 PTEN
31 Decreased cell migration GR00055-A-1 9.63 PIK3R2 AKT3 PIK3CA MTOR STRADA TSC1

MGI Mouse Phenotypes related to Megalencephaly:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.21 MBP RNASET2 S100B SST MLC1 AKT3
2 cardiovascular system MP:0005385 9.97 EIF2B5 PTEN AKT3 MTOR PIK3CA CCND2
3 growth/size/body region MP:0005378 9.9 EIF2B5 PTEN MBP MLC1 AKT3 MTOR
4 endocrine/exocrine gland MP:0005379 9.86 AKT3 MTOR CCK PIK3CA CCND2 PTEN
5 homeostasis/metabolism MP:0005376 9.83 MBP S100B SST MLC1 AKT3 MTOR
6 nervous system MP:0003631 9.4 MBP SST MLC1 AKT3 MTOR CCK

Drugs & Therapeutics for Megalencephaly

Drugs for Megalencephaly (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177
2
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
3
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030 46835353
4 Anti-Bacterial Agents Phase 1, Phase 2
5 Antibiotics, Antitubercular Phase 1, Phase 2
6 Antifungal Agents Phase 1, Phase 2
7 Anti-Infective Agents Phase 1, Phase 2
8 Immunosuppressive Agents Phase 1, Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 RAD001 and Neurocognition in PTEN Hamartoma Tumor Syndrome (PTEN) Recruiting NCT02991807 Phase 1, Phase 2 RAD001;Placebo
2 Genetics, Brain Structure and Thinking Skills in Autism Completed NCT01451983
3 Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations Recruiting NCT02461446
4 Finding Genes With NGS Techniques in Whom Mutations Cause Neurological Diseases Not yet recruiting NCT02340871

Search NIH Clinical Center for Megalencephaly

Genetic Tests for Megalencephaly

Genetic tests related to Megalencephaly:

id Genetic test Affiliating Genes
1 Megalencephaly 29

Anatomical Context for Megalencephaly

MalaCards organs/tissues related to Megalencephaly:

39
Brain, Spinal Cord, Cortex, Eye, Temporal Lobe

Publications for Megalencephaly

Articles related to Megalencephaly:

(show top 50) (show all 142)
id Title Authors Year
1
A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly. ( 28086757 )
2017
2
A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency. ( 28190287 )
2017
3
Spindle Misorientation of Cerebral and Cerebellar Progenitors Is a Mechanistic Cause of Megalencephaly. ( 28943256 )
2017
4
A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment. ( 28658095 )
2017
5
Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-GoutiA"res syndrome. ( 27091087 )
2016
6
Persistence of megalencephaly in a subgroup of young boys with autism spectrum disorder. ( 27273931 )
2016
7
Megalencephaly-capillary malformation polymicrogyria: A review and complex pediatric case report. ( 27216985 )
2016
8
Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant. ( 27773430 )
2016
9
Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea. ( 28018470 )
2016
10
Severe holocord syrinx in a child with megalencephaly-capillary malformation syndrome. ( 27035547 )
2016
11
Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE). ( 27170158 )
2016
12
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. ( 27159400 )
2016
13
Megalencephaly, polymicrogyria and ribbon-like band heterotopia: A new cortical malformation. ( 27381655 )
2016
14
A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy. ( 26153217 )
2015
15
Megalencephaly and Macrocephaly. ( 26060907 )
2015
16
Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities. ( 26542245 )
2015
17
HemA+megalencephaly assocA+ated wA+th fetal cardA+ac faA+lure and hydrops. ( 25710787 )
2015
18
Detection of a mosaic PIK3CA mutation in dental DNA from a child with megalencephaly capillary malformation syndrome. ( 26351730 )
2015
19
MEGALENCEPHALY, POLYMICROGYRIA, POLYDACTYLY AND HYDROCEPHALUS (MPPH) SYNDROME: A NEW CASE WITH OCCIPITAL ENCEPHALOCELE AND CLEFT PALATE. ( 26852507 )
2015
20
Focal megalencephaly: intraoperative ultrasound imaging in epilepsy surgery. ( 26578502 )
2015
21
Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia. ( 25523067 )
2015
22
PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia. ( 25722288 )
2015
23
Three cases of right frontal megalencephaly: Clinical characteristics and long-term outcome. ( 26415548 )
2015
24
Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation in AKT3. ( 25416470 )
2015
25
Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations. ( 24497998 )
2014
26
Megalencephaly and hemimegalencephaly: breakthroughs in molecular etiology. ( 24888963 )
2014
27
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. ( 24705253 )
2014
28
Abnormalities in the zinc-metalloprotease-BDNF axis may contribute to megalencephaly and cortical hyperconnectivity in young autism spectrum disorder patients. ( 25182223 )
2014
29
Unusual presentation of Sturge-Weber syndrome: Progressive megalencephaly with bilateral cutaneous and cortical involvement. ( 25024575 )
2014
30
Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP) - pure coincidence? ( 24939587 )
2014
31
Syndrome of megalencephaly, mega corpus callosum, and complete lack of motor development: exploring the phenotype. ( 24326961 )
2013
32
The "megalencephaly-capillary malformation" (MCAP) syndrome: the nomenclature of a highly recognizable multiple congenital anomaly syndrome. ( 23798482 )
2013
33
Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome. ( 23754335 )
2013
34
Bilateral Periventricular Nodular Heterotopia With Megalencephaly: A Case Report. ( 23439715 )
2013
35
Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP. ( 23592320 )
2013
36
AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH. ( 23745724 )
2013
37
Four-year follow-up of megalencephaly, polymicrogyria, postaxial polydactyly and hydrocephalus (MPPH) syndrome. ( 24092603 )
2013
38
Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly. ( 23687350 )
2013
39
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome: a case report. ( 22859694 )
2013
40
Abnormal gyration of the temporal lobe and megalencephaly are typical features of thanatophoric dysplasia and can be visualized prenatally by ultrasound. ( 22374812 )
2012
41
Lack of Pur-alpha alters postnatal brain development and causes megalencephaly. ( 22010047 )
2012
42
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. ( 22729224 )
2012
43
Genetics: mutations in mTOR pathway linked to megalencephaly syndromes. ( 22907262 )
2012
44
Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis. ( 22228622 )
2012
45
Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus. ( 20503325 )
2010
46
Megalencephaly, mega corpus callosum, and complete lack of motor development: delineation of a rare syndrome. ( 20803648 )
2010
47
Congenital cytomegalovirus infection resembling cystic leukoencephalopathy without megalencephaly. ( 20434699 )
2010
48
Clinical and imaging characteristics of localized megalencephaly: a retrospective comparison of diffuse hemimegalencephaly and multilobar cortical dysplasia. ( 19672585 )
2009
49
Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes. ( 19353582 )
2009
50
Syndrome of megalencephaly, polydactyly, and polymicrogyria lacking frank hydrocephalus, with associated MR imaging findings. ( 19369601 )
2009

Variations for Megalencephaly

Expression for Megalencephaly

Search GEO for disease gene expression data for Megalencephaly.

Pathways for Megalencephaly

Pathways related to Megalencephaly according to GeneCards Suite gene sharing:

(show top 50) (show all 68)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.99 AKT3 CRADD MTOR PTEN STK11 TSC1
2
Show member pathways
12.93 AKT3 EIF2B5 MTOR PIK3CA PIK3R2 PTEN
3
Show member pathways
12.91 AKT3 CCND2 PIK3CA PIK3R2 PTEN
4
Show member pathways
12.88 AKT3 EIF2B5 MTOR PIK3CA PIK3R2 PTEN
5
Show member pathways
12.82 AKT3 MTOR PIK3CA PIK3R2 PTEN
6
Show member pathways
12.81 AKT3 MTOR PIK3CA PIK3R2 PTEN
7
Show member pathways
12.78 AKT3 MTOR PIK3CA PIK3R2 PTEN
8
Show member pathways
12.75 AKT3 MTOR PIK3CA PIK3R2 PTEN
9 12.69 AKT3 MTOR PIK3CA PIK3R2 PTEN
10 12.66 AKT3 CCND2 MTOR PIK3CA PIK3R2 PTEN
11
Show member pathways
12.56 AKT3 CCND2 MTOR PIK3CA PIK3R2 PTEN
12
Show member pathways
12.54 MTOR PIK3CA PIK3R2 PTEN TSC1
13
Show member pathways
12.53 AKT3 MTOR PIK3CA PIK3R2
14 12.53 CCND2 MTOR PIK3CA PIK3R2 PTEN
15
Show member pathways
12.51 AKT3 CCND2 MTOR PIK3CA PIK3R2 PTEN
16
Show member pathways
12.46 AKT3 MTOR PIK3CA PIK3R2
17 12.44 AKT3 CCND2 PIK3CA PIK3R2
18
Show member pathways
12.44 MTOR PIK3CA PIK3R2 STK11 STRADA TSC1
19
Show member pathways
12.43 AKT3 MTOR PIK3CA PIK3R2 TSC1
20
Show member pathways
12.4 AKT3 PIK3CA PIK3R2 PTEN
21
Show member pathways
12.35 AKT3 MTOR PIK3CA PIK3R2 PTEN
22
Show member pathways
12.33 AKT3 MTOR PIK3CA PIK3R2
23
Show member pathways
12.33 AKT3 MTOR PIK3R2 TSC1
24
Show member pathways
12.33 AKT3 MTOR PIK3CA PIK3R2 STK11 STRADA
25 12.31 AKT3 MTOR PIK3CA PIK3R2
26
Show member pathways
12.24 AKT3 CCND2 MTOR PIK3CA PIK3R2
27
Show member pathways
12.24 AKT3 CCND2 MTOR PIK3CA PIK3R2 PTEN
28
Show member pathways
12.23 AKT3 MTOR PIK3CA PIK3R2
29
Show member pathways
12.2 AKT3 MTOR PIK3CA PIK3R2
30
Show member pathways
12.2 AKT3 MTOR PIK3R2 STK11 STRADA TSC1
31
Show member pathways
12.18 EIF2B5 MTOR PIK3CA PIK3R2
32 12.18 MTOR PIK3R2 PTEN STK11 TSC1
33
Show member pathways
12.18 AKT3 CCND2 MTOR PIK3CA PIK3R2 PTEN
34
Show member pathways
12.16 AKT3 PIK3CA PIK3R2 PTEN
35
Show member pathways
12.16 AKT3 CRADD MTOR PIK3CA PIK3R2
36
Show member pathways
12.14 AKT3 MTOR PIK3CA PTEN
37
Show member pathways
12.09 AKT3 MTOR PIK3CA PIK3R2 STK11 TSC1
38 12.02 AKT3 PIK3CA PIK3R2 PTEN
39 12.02 AKT3 CCND2 PIK3CA PIK3R2 PTEN
40
Show member pathways
12.02 AKT3 CCND2 PIK3CA PIK3R2 PTEN STK11
41 12.01 AKT3 MTOR PIK3CA PIK3R2
42 11.99 AKT3 MTOR PIK3R2 PTEN TSC1
43
Show member pathways
11.97 AKT3 MTOR PIK3CA PIK3R2 PTEN
44 11.93 AKT3 MTOR PIK3CA PIK3R2
45 11.93 AKT3 CCND2 MTOR PTEN STK11 TSC1
46 11.91 AKT3 PIK3CA PIK3R2
47 11.91 AKT3 MTOR PIK3R2
48 11.91 AKT3 MTOR PIK3CA PIK3R2
49
Show member pathways
11.89 MTOR PIK3CA PIK3R2
50 11.87 AKT3 PIK3CA PIK3R2

GO Terms for Megalencephaly

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

id Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.93 CCND2 CRADD EIF2B5 MTOR PIK3CA PIK3R2
2 neuronal cell body GO:0043025 9.35 CCK MBP MTOR S100B SST
3 phosphatidylinositol 3-kinase complex GO:0005942 8.8 MTOR PIK3CA PIK3R2

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

(show all 19)
id Name GO ID Score Top Affiliating Genes
1 membrane organization GO:0061024 9.85 MBP TBC1D7 TBC1D7-LOC100130357 TSC1
2 activation of GTPase activity GO:0090630 9.75 TBC1D7 TBC1D7-LOC100130357 TSC1
3 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.74 CCK MTOR STK11
4 response to nutrient GO:0007584 9.73 MTOR PTEN SST
5 positive regulation of apoptotic process GO:0043065 9.73 CCK EIF2B5 PTEN S100B
6 phosphatidylinositol biosynthetic process GO:0006661 9.71 PIK3CA PIK3R2 PTEN
7 T cell receptor signaling pathway GO:0050852 9.71 PIK3CA PIK3R2 PTEN STK11
8 activation of protein kinase activity GO:0032147 9.69 PIK3CA STK11 STRADA
9 cell cycle arrest GO:0007050 9.67 MTOR STK11 STRADA TSC1
10 myelination GO:0042552 9.63 EIF2B5 MBP TSC1
11 response to growth factor GO:0070848 9.58 TBC1D7 TBC1D7-LOC100130357
12 phosphatidylinositol-mediated signaling GO:0048015 9.56 MTOR PIK3CA PIK3R2 PTEN
13 regulation of protein kinase B signaling GO:0051896 9.52 MTOR STK11
14 negative regulation of TOR signaling GO:0032007 9.5 TBC1D7 TBC1D7-LOC100130357 TSC1
15 astrocyte differentiation GO:0048708 9.49 EIF2B5 S100B
16 negative regulation of cilium assembly GO:1902018 9.48 TBC1D7 TBC1D7-LOC100130357
17 negative regulation of macroautophagy GO:0016242 9.33 MTOR PIK3CA TSC1
18 anoikis GO:0043276 9.13 MTOR PIK3CA STK11
19 negative regulation of cell size GO:0045792 8.8 MTOR PTEN TSC1

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

id Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.86 AKT3 CCND2 CRADD EIF2B5 MBP MLC1
2 protein kinase activator activity GO:0030295 8.8 PIK3CA STK11 STRADA

Sources for Megalencephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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