MCID: MGL013
MIFTS: 54

Megalencephaly

Categories: Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Megalencephaly

Summaries for Megalencephaly

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 : Megalencephaly, also known as macroencephaly, is related to megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 and megalencephaly-capillary malformation-polymicrogyria syndrome. An important gene associated with Megalencephaly is CCND2 (Cyclin D2), and among its related pathways/superpathways are Regulation of TP53 Activity and PI3K-Akt signaling pathway. The drugs Miconazole and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and cortex, and related phenotypes are long penis and macroorchidism

Wikipedia : 76 Megalencephaly (or macrencephaly; abbreviated MEG) is a growth development disorder in which the brain... more...

Related Diseases for Megalencephaly

Diseases in the Megalencephaly family:

Megalencephaly, Autosomal Dominant

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

(show top 50) (show all 93)
# Related Disease Score Top Affiliating Genes
1 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 34.8 AKT3 CCND2 PIK3R2
2 megalencephaly-capillary malformation-polymicrogyria syndrome 34.8 AKT3 PIK3CA PIK3R2
3 polyhydramnios, megalencephaly, and symptomatic epilepsy 34.3 STK11 STRADA
4 hemimegalencephaly 33.9 AKT3 MTOR PIK3CA
5 hydrocephalus 30.4 AKT3 CCND2 MBP PIK3R2 PTEN
6 tuberous sclerosis 27.6 MTOR PIK3CA S100B STK11 TBC1D7 TSC1
7 leukoencephalopathy, cystic, without megalencephaly 12.3
8 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 12.3
9 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 12.2
10 macrocephaly/megalencephaly syndrome, autosomal recessive 12.2
11 megalencephaly, autosomal dominant 12.0
12 megalencephaly with dysmyelination 12.0
13 isolated megalencephaly 11.9
14 focal alopecia congenital megalencephaly 11.8
15 rnase t2-deficient leukoencephalopathy 11.8
16 megalencephalic leukoencephalopathy with subcortical cysts 1 11.7
17 cowden syndrome 1 11.4
18 alexander disease 11.4
19 macrocephaly, benign familial 11.2
20 pik3ca-related overgrowth spectrum 11.0
21 early-onset parkinsonism-intellectual disability syndrome 10.8
22 mental retardation, autosomal recessive 34, with variant lissencephaly 10.8
23 neurofaciodigitorenal syndrome 10.8
24 macrocephaly, dysmorphic facies, and psychomotor retardation 10.8
25 thyroid hurthle cell adenoma 10.8 PIK3CA PTEN
26 dermatosis papulosa nigra 10.7 MTOR PIK3CA
27 cutis marmorata telangiectatica congenita 10.7 AKT3 PIK3CA PIK3R2
28 pancreatic neuroendocrine tumor 10.6 MTOR PIK3CA
29 female reproductive organ cancer 10.5 PIK3CA PIK3R2 PTEN
30 uterine carcinosarcoma 10.5 PIK3CA PIK3R2 PTEN
31 adult hepatocellular carcinoma 10.4 PIK3CA TSC1
32 renal cell carcinoma, papillary, 1 10.4 MTOR PIK3CA PTEN
33 proteus syndrome 10.4 AKT3 PIK3CA PIK3R2 PTEN
34 polymicrogyria 10.4
35 polydactyly 10.3
36 respiratory system cancer 10.2 PIK3CA PTEN STK11
37 glioblastoma multiforme 10.1 AKT3 MTOR PIK3CA PTEN
38 cerebral degeneration 10.1 EIF2B5 MLC1 PIK3R2
39 hydromyelia 10.1 PTEN S100B
40 cerebritis 10.1
41 subependymal glioma 10.0 MTOR TSC1
42 postcholecystectomy syndrome 10.0 CCK SST
43 epilepsy 10.0
44 autism 10.0
45 neuronitis 10.0
46 kidney angiomyolipoma 10.0 MTOR TSC1
47 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.0 PTEN STK11 TSC1
48 peutz-jeghers syndrome 9.9 PTEN STK11 TSC1
49 gemistocytic astrocytoma 9.9 PTEN S100B
50 achondroplasia 9.9

Graphical network of the top 20 diseases related to Megalencephaly:



Diseases related to Megalencephaly

Symptoms & Phenotypes for Megalencephaly

Human phenotypes related to Megalencephaly:

59 32 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 long penis 59 32 frequent (33%) Frequent (79-30%) HP:0000040
2 macroorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000053
3 abnormality of the fontanelles or cranial sutures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000235
4 macrocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000256
5 dolichocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000268
6 prominent occiput 59 32 hallmark (90%) Very frequent (99-80%) HP:0000269
7 pointed chin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000307
8 wide nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000431
9 short neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000470
10 deeply set eye 59 32 hallmark (90%) Very frequent (99-80%) HP:0000490
11 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
12 atrial septal defect 59 32 frequent (33%) Frequent (79-30%) HP:0001631
13 truncal obesity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001956
14 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
15 delayed skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002750
16 genu valgum 59 32 frequent (33%) Frequent (79-30%) HP:0002857

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

26 (show all 35)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.57 PIK3CA MTOR
2 Decreased viability GR00173-A 10.57 PIK3R2
3 Decreased viability GR00221-A-1 10.57 MTOR PIK3CA AKT3 STRADA PIK3R2
4 Decreased viability GR00221-A-2 10.57 AKT3 PIK3R2 STRADA TSC1 PIK3CA
5 Decreased viability GR00221-A-3 10.57 AKT3 STRADA TSC1
6 Decreased viability GR00221-A-4 10.57 MTOR AKT3 PIK3R2 STRADA PIK3CA
7 Decreased viability GR00301-A 10.57 AKT3 TSC1 PIK3R2
8 Decreased viability GR00342-S-1 10.57 MTOR
9 Decreased viability GR00342-S-2 10.57 MTOR
10 Decreased viability GR00402-S-2 10.57 PIK3CA AKT3 MTOR STRADA TSC1 PIK3R2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.87 MTOR
12 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.87 MTOR
13 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.87 RNASET2 TSC1 PIK3CA
14 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.87 TSC1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.87 PTEN
16 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.87 PTEN
17 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.87 PIK3CA
18 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.87 PTEN MTOR PIK3CA
19 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.87 PIK3CA
20 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.87 PTEN
21 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.87 RNASET2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.87 PIK3CA
23 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.87 HERC1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.87 RNASET2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.87 PIK3CA
26 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.87 RNASET2 PTEN
27 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.87 PTEN RNASET2 HERC1 TSC1 MTOR PIK3CA
28 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.87 PIK3CA
29 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.87 PTEN
30 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.87 HERC1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.87 RNASET2 MTOR
32 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.87 TSC1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.87 MTOR
34 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.87 PTEN
35 Decreased cell migration GR00055-A-1 9.63 AKT3 MTOR PIK3CA PIK3R2 STRADA TSC1

MGI Mouse Phenotypes related to Megalencephaly:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.2 AKT3 CCK CCND2 EIF2B5 HERC1 MBP
2 growth/size/body region MP:0005378 9.93 SST STK11 TSC1 AKT3 EIF2B5 HERC1
3 endocrine/exocrine gland MP:0005379 9.91 CCK CCND2 MLC1 MTOR PIK3CA PTEN
4 homeostasis/metabolism MP:0005376 9.83 PIK3CA PIK3R2 PTEN S100B SST STK11
5 nervous system MP:0003631 9.44 AKT3 CCK CCND2 EIF2B5 HERC1 MBP

Drugs & Therapeutics for Megalencephaly

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

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
2
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177
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 Immunosuppressive Agents Phase 1, Phase 2
7 Anti-Infective Agents Phase 1, Phase 2
8 Antifungal Agents Phase 1, Phase 2

Interventional clinical trials:


# 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 Finding Genes With NGS Techniques in Whom Mutations Cause Neurological Diseases Unknown status NCT02340871
3 Genetics, Brain Structure and Thinking Skills in Autism Completed NCT01451983
4 Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations Recruiting NCT02461446
5 A Natural History Study of the Gangliosidoses Recruiting NCT00668187
6 North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2 Not yet recruiting NCT03548779 Not Applicable

Search NIH Clinical Center for Megalencephaly

Genetic Tests for Megalencephaly

Genetic tests related to Megalencephaly:

# Genetic test Affiliating Genes
1 Megalencephaly 29

Anatomical Context for Megalencephaly

MalaCards organs/tissues related to Megalencephaly:

41
Brain, Spinal Cord, Cortex, Eye, Temporal Lobe

Publications for Megalencephaly

Articles related to Megalencephaly:

(show top 50) (show all 147)
# Title Authors Year
1
Dysplastic megalencephaly phenotype presenting with prenatal high-output cardiac failure. ( 29594439 )
2018
2
Commentary on "Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea". ( 29441111 )
2018
3
A Novel CCND2 Mutation in a Previously Reported Case of Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus. ( 29642246 )
2018
4
A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment. ( 28658095 )
2017
5
A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency. ( 28190287 )
2017
6
Spindle Misorientation of Cerebral and Cerebellar Progenitors Is a Mechanistic Cause of Megalencephaly. ( 28943256 )
2017
7
A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly. ( 28086757 )
2017
8
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly. ( 28969385 )
2017
9
Olfactory nerve hypertrophy: a clue to the presence of ipsilateral megalencephaly. ( 29066644 )
2017
10
Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant. ( 27773430 )
2016
11
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. ( 27159400 )
2016
12
Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea. ( 28018470 )
2016
13
Megalencephaly, polymicrogyria and ribbon-like band heterotopia: A new cortical malformation. ( 27381655 )
2016
14
Megalencephaly-capillary malformation polymicrogyria: A review and complex pediatric case report. ( 27216985 )
2016
15
Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE). ( 27170158 )
2016
16
Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-GoutiA"res syndrome. ( 27091087 )
2016
17
Persistence of megalencephaly in a subgroup of young boys with autism spectrum disorder. ( 27273931 )
2016
18
Severe holocord syrinx in a child with megalencephaly-capillary malformation syndrome. ( 27035547 )
2016
19
HemA+megalencephaly assocA+ated wA+th fetal cardA+ac faA+lure and hydrops. ( 25710787 )
2015
20
Focal megalencephaly: intraoperative ultrasound imaging in epilepsy surgery. ( 26578502 )
2015
21
Detection of a mosaic PIK3CA mutation in dental DNA from a child with megalencephaly capillary malformation syndrome. ( 26351730 )
2015
22
Megalencephaly and Macrocephaly. ( 26060907 )
2015
23
Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia. ( 25523067 )
2015
24
Three cases of right frontal megalencephaly: Clinical characteristics and long-term outcome. ( 26415548 )
2015
25
A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy. ( 26153217 )
2015
26
Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation in AKT3. ( 25416470 )
2015
27
Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities. ( 26542245 )
2015
28
PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia. ( 25722288 )
2015
29
MEGALENCEPHALY, POLYMICROGYRIA, POLYDACTYLY AND HYDROCEPHALUS (MPPH) SYNDROME: A NEW CASE WITH OCCIPITAL ENCEPHALOCELE AND CLEFT PALATE. ( 26852507 )
2015
30
Abnormalities in the zinc-metalloprotease-BDNF axis may contribute to megalencephaly and cortical hyperconnectivity in young autism spectrum disorder patients. ( 25182223 )
2014
31
Unusual presentation of Sturge-Weber syndrome: Progressive megalencephaly with bilateral cutaneous and cortical involvement. ( 25024575 )
2014
32
Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations. ( 24497998 )
2014
33
Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP) - pure coincidence? ( 24939587 )
2014
34
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. ( 24705253 )
2014
35
Megalencephaly and hemimegalencephaly: breakthroughs in molecular etiology. ( 24888963 )
2014
36
Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly. ( 23687350 )
2013
37
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome: a case report. ( 22859694 )
2013
38
Bilateral Periventricular Nodular Heterotopia With Megalencephaly: A Case Report. ( 23439715 )
2013
39
Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome. ( 23754335 )
2013
40
The "megalencephaly-capillary malformation" (MCAP) syndrome: the nomenclature of a highly recognizable multiple congenital anomaly syndrome. ( 23798482 )
2013
41
Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP. ( 23592320 )
2013
42
Four-year follow-up of megalencephaly, polymicrogyria, postaxial polydactyly and hydrocephalus (MPPH) syndrome. ( 24092603 )
2013
43
Syndrome of megalencephaly, mega corpus callosum, and complete lack of motor development: exploring the phenotype. ( 24326961 )
2013
44
AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH. ( 23745724 )
2013
45
Genetics: mutations in mTOR pathway linked to megalencephaly syndromes. ( 22907262 )
2012
46
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. ( 22729224 )
2012
47
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
48
Abnormal gyration of the temporal lobe and megalencephaly are typical features of thanatophoric dysplasia and can be visualized prenatally by ultrasound. ( 22374812 )
2012
49
Lack of Pur-alpha alters postnatal brain development and causes megalencephaly. ( 22010047 )
2012
50
Megalencephaly, mega corpus callosum, and complete lack of motor development: delineation of a rare syndrome. ( 20803648 )
2010

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 70)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.99 AKT3 CRADD MTOR PTEN STK11 TSC1
2
Show member pathways
12.97 AKT3 CCND2 MTOR PIK3CA PIK3R2 PTEN
3
Show member pathways
12.93 AKT3 EIF2B5 MTOR PIK3CA PIK3R2 PTEN
4
Show member pathways
12.91 AKT3 CCND2 PIK3CA PIK3R2 PTEN
5
Show member pathways
12.89 AKT3 EIF2B5 MTOR PIK3CA PIK3R2 PTEN
6
Show member pathways
12.88 AKT3 MTOR PIK3CA PIK3R2 PTEN
7 12.85 AKT3 CCND2 MTOR PIK3CA PIK3R2 PTEN
8
Show member pathways
12.8 AKT3 CCND2 MTOR PIK3CA PIK3R2 PTEN
9
Show member pathways
12.79 AKT3 MTOR PIK3CA PIK3R2 PTEN
10
Show member pathways
12.75 AKT3 MTOR PIK3CA PIK3R2 PTEN
11
Show member pathways
12.74 AKT3 MTOR PIK3CA PIK3R2 PTEN
12
Show member pathways
12.69 AKT3 MTOR PIK3CA PIK3R2 PTEN
13
Show member pathways
12.66 AKT3 CCND2 MTOR PIK3CA PIK3R2
14
Show member pathways
12.59 AKT3 MTOR PIK3CA PIK3R2 PTEN
15
Show member pathways
12.55 MTOR PIK3CA PIK3R2 PTEN TSC1
16 12.53 CCND2 MTOR PIK3CA PIK3R2 PTEN
17
Show member pathways
12.52 AKT3 CCND2 MTOR PIK3CA PIK3R2 PTEN
18
Show member pathways
12.49 AKT3 MTOR PIK3CA PIK3R2
19
Show member pathways
12.45 AKT3 MTOR PIK3CA PIK3R2
20 12.44 AKT3 CCND2 PIK3CA PIK3R2
21
Show member pathways
12.44 MTOR PIK3CA PIK3R2 STK11 STRADA TSC1
22
Show member pathways
12.43 AKT3 MTOR PIK3CA PIK3R2 TSC1
23
Show member pathways
12.4 AKT3 PIK3CA PIK3R2 PTEN
24
Show member pathways
12.36 AKT3 MTOR PIK3CA PIK3R2 PTEN
25
Show member pathways
12.33 AKT3 MTOR PIK3CA PIK3R2 STK11 STRADA
26
Show member pathways
12.32 AKT3 MTOR PIK3R2 TSC1
27 12.31 AKT3 MTOR PIK3CA PIK3R2
28
Show member pathways
12.24 AKT3 MTOR PIK3CA PIK3R2
29
Show member pathways
12.2 AKT3 MTOR PIK3CA PIK3R2
30
Show member pathways
12.19 EIF2B5 MTOR PIK3CA PIK3R2
31 12.19 MTOR PIK3R2 PTEN STK11 TSC1
32
Show member pathways
12.19 AKT3 MTOR PIK3R2 STK11 STRADA TSC1
33
Show member pathways
12.16 AKT3 PIK3CA PIK3R2 PTEN
34
Show member pathways
12.16 AKT3 CRADD MTOR PIK3CA PIK3R2
35
Show member pathways
12.14 AKT3 MTOR PIK3CA PTEN
36 12.14 AKT3 MTOR PIK3CA PIK3R2 PTEN TSC1
37
Show member pathways
12.09 CCND2 MTOR TSC1
38
Show member pathways
12.09 AKT3 MTOR PIK3CA PIK3R2 STK11 TSC1
39 12.02 AKT3 PIK3CA PIK3R2 PTEN
40 12.02 AKT3 CCND2 PIK3CA PIK3R2 PTEN
41
Show member pathways
12.02 AKT3 CCND2 PIK3CA PIK3R2 PTEN STK11
42 12.01 AKT3 MTOR PIK3CA PIK3R2
43 12 AKT3 CCND2 MTOR PIK3CA PIK3R2 PTEN
44 11.99 AKT3 MTOR PIK3R2 PTEN TSC1
45
Show member pathways
11.96 AKT3 MTOR PIK3CA PIK3R2 PTEN
46 11.94 AKT3 MTOR PIK3CA PIK3R2
47 11.92 AKT3 MTOR PIK3CA PIK3R2
48 11.91 AKT3 PIK3CA PIK3R2
49 11.9 AKT3 MTOR PIK3R2
50 11.9 AKT3 PIK3CA PIK3R2 PTEN

GO Terms for Megalencephaly

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

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.97 CCND2 CRADD EIF2B5 HERC1 MTOR PIK3CA
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 17)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of apoptotic process GO:0043065 9.77 CCK CRADD EIF2B5 PTEN S100B
2 activation of GTPase activity GO:0090630 9.73 TBC1D7 TBC1D7-LOC100130357 TSC1
3 T cell receptor signaling pathway GO:0050852 9.73 EIF2B5 PIK3CA PIK3R2 STK11
4 activation of protein kinase activity GO:0032147 9.72 PIK3CA STK11 STRADA
5 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.71 CCK MTOR STK11
6 response to nutrient GO:0007584 9.69 MTOR PTEN SST
7 phosphatidylinositol biosynthetic process GO:0006661 9.67 PIK3CA PIK3R2 PTEN
8 cell cycle arrest GO:0007050 9.62 MTOR STK11 STRADA TSC1
9 myelination GO:0042552 9.58 EIF2B5 MBP TSC1
10 response to growth factor GO:0070848 9.57 TBC1D7 TBC1D7-LOC100130357
11 regulation of protein kinase B signaling GO:0051896 9.52 MTOR STK11
12 astrocyte differentiation GO:0048708 9.48 EIF2B5 S100B
13 negative regulation of cilium assembly GO:1902018 9.46 TBC1D7 TBC1D7-LOC100130357
14 negative regulation of TOR signaling GO:0032007 9.43 TBC1D7 TBC1D7-LOC100130357 TSC1
15 negative regulation of macroautophagy GO:0016242 9.33 MTOR PIK3CA TSC1
16 anoikis GO:0043276 9.13 MTOR PIK3CA STK11
17 negative regulation of cell size GO:0045792 8.8 MTOR PTEN TSC1

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

# Name GO ID Score Top Affiliating Genes
1 binding GO:0005488 9.46 EIF2B5 MTOR PIK3CA TSC1
2 protein serine/threonine kinase activity GO:0004674 9.35 AKT3 MTOR PIK3CA STK11 STRADA
3 protein kinase activator activity GO:0030295 8.8 PIK3CA STK11 STRADA
4 protein binding GO:0005515 10.19 AKT3 CCND2 CRADD EIF2B5 HERC1 MBP

Sources for Megalencephaly

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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