MCID: MGL013
MIFTS: 52

Megalencephaly

Categories: Fetal diseases, Neuronal 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 STRADA (STE20-Related Kinase Adaptor Alpha), and among its related pathways/superpathways are Human cytomegalovirus infection 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 macrocephaly and short neck

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 92)
# Related Disease Score Top Affiliating Genes
1 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 34.3 AKT3 CCND2 PIK3R2
2 megalencephaly-capillary malformation-polymicrogyria syndrome 34.3 AKT3 PIK3CA PIK3R2
3 polyhydramnios, megalencephaly, and symptomatic epilepsy 33.9 STK11 STRADA
4 hemimegalencephaly 33.6 AKT3 MTOR PIK3CA
5 polymicrogyria 31.1 AKT3 CCND2 PIK3R2
6 hydrocephalus 30.5 AKT3 CCND2 MBP PIK3R2 PTEN
7 macrodactyly 29.9 PIK3CA TSC1
8 tuberous sclerosis 29.4 MTOR PIK3CA S100B STK11 TBC1D7 TSC1
9 leukoencephalopathy, cystic, without megalencephaly 12.5
10 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 12.4
11 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 12.4
12 macrocephaly/megalencephaly syndrome, autosomal recessive 12.4
13 megalencephaly, autosomal dominant 12.2
14 megalencephaly with dysmyelination 12.1
15 isolated megalencephaly 12.1
16 focal alopecia congenital megalencephaly 12.0
17 rnase t2-deficient leukoencephalopathy 12.0
18 megalencephalic leukoencephalopathy with subcortical cysts 1 11.9
19 cowden syndrome 1 11.6
20 alexander disease 11.6
21 macrocephaly, benign familial 11.3
22 pik3ca-related overgrowth spectrum 11.1
23 neurofaciodigitorenal syndrome 11.0
24 mental retardation, autosomal recessive 34, with variant lissencephaly 11.0
25 early-onset parkinsonism-intellectual disability syndrome 11.0
26 macrocephaly, dysmorphic facies, and psychomotor retardation 11.0
27 polydactyly 10.4
28 thyroid hurthle cell adenoma 10.2 PIK3CA PTEN
29 dermatosis papulosa nigra 10.2 MTOR PIK3CA
30 cutis marmorata telangiectatica congenita 10.2 AKT3 PIK3CA PIK3R2
31 epilepsy 10.2
32 pancreatic neuroendocrine tumor 10.2 MTOR PIK3CA
33 adult hepatocellular carcinoma 10.2 PIK3CA TSC1
34 autism 10.2
35 uterine carcinosarcoma 10.1 PIK3CA PIK3R2 PTEN
36 proteus syndrome 10.1 AKT3 PIK3CA PIK3R2 PTEN
37 glioma 10.1 AKT3 CCND2 PIK3CA PTEN
38 alacrima, achalasia, and mental retardation syndrome 10.1
39 polyhydramnios 10.1
40 renal cell carcinoma, papillary, 1 10.1 MTOR PIK3CA PTEN
41 benign glioma 10.1 AKT3 MTOR TSC1
42 glioblastoma multiforme 10.0 AKT3 MTOR PIK3CA PTEN
43 respiratory system cancer 10.0 PIK3CA PTEN STK11
44 hydromyelia 10.0 PTEN S100B
45 achondroplasia 10.0
46 thanatophoric dysplasia, type i 10.0
47 periventricular nodular heterotopia 10.0
48 autism spectrum disorder 10.0
49 leukodystrophy 10.0
50 kidney angiomyolipoma 10.0 MTOR TSC1

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

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

26 (show all 34)
# 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 AKT3 PIK3CA PIK3R2 STRADA MTOR
4 Decreased viability GR00221-A-2 10.57 AKT3 PIK3CA PIK3R2 STRADA TSC1
5 Decreased viability GR00221-A-3 10.57 AKT3 STRADA TSC1
6 Decreased viability GR00221-A-4 10.57 AKT3 PIK3CA PIK3R2 STRADA MTOR
7 Decreased viability GR00301-A 10.57 AKT3 PIK3R2 TSC1
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 AKT3 PIK3CA PIK3R2 STRADA TSC1 MTOR
11 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.83 MTOR
12 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.83 MTOR
13 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.83 TSC1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.83 PTEN
15 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.83 PTEN
16 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.83 PIK3CA
17 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.83 MTOR PIK3CA PTEN
18 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.83 PIK3CA
19 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.83 PTEN
20 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.83 RNASET2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.83 PIK3CA
22 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.83 HERC1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.83 RNASET2
24 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.83 PIK3CA
25 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.83 PTEN RNASET2
26 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.83 HERC1 MTOR PIK3CA PTEN RNASET2 TSC1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.83 PIK3CA
28 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.83 PTEN
29 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.83 HERC1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.83 MTOR RNASET2
31 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.83 TSC1
32 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.83 MTOR
33 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.83 PTEN
34 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 10.24 AKT3 CCK CCND2 EIF2B5 HERC1 MBP
2 growth/size/body region MP:0005378 10.03 AKT3 EIF2B5 HERC1 MBP MLC1 MTOR
3 homeostasis/metabolism MP:0005376 10.03 AKT3 CCK CCND2 CRADD EIF2B5 MBP
4 endocrine/exocrine gland MP:0005379 9.97 AKT3 CCK CCND2 MLC1 MTOR PIK3CA
5 mortality/aging MP:0010768 9.73 AKT3 CCND2 CRADD EIF2B5 HERC1 MBP
6 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 9)
# 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 46835353 6436030 5284616
4 Antibiotics, Antitubercular Phase 1, Phase 2
5 Immunologic Factors Phase 1, Phase 2
6 Anti-Bacterial Agents Phase 1, Phase 2
7 Anti-Infective Agents Phase 1, Phase 2
8 Immunosuppressive Agents Phase 1, Phase 2
9 Antifungal Agents Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 RAD001 and Neurocognition in PTEN Hamartoma Tumor Syndrome 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 North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2 Recruiting NCT03548779 Not Applicable
5 A Natural History Study of the Gangliosidoses Recruiting NCT00668187
6 Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations Active, not recruiting NCT02461446

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, Heart, Pituitary, Thyroid

Publications for Megalencephaly

Articles related to Megalencephaly:

(show top 50) (show all 150)
# 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
Novel Homozygous Deletion in STRADA Gene Associated With Polyhydramnios, Megalencephaly, and Epilepsy in 2 Siblings: Implications for Diagnosis and Treatment. ( 30311510 )
2018
5
Co-occurrence of mutations in FOXP1 and PTCH1 in a girl with extreme megalencephaly, callosal dysgenesis and profound intellectual disability. ( 30181650 )
2018
6
A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment. ( 28658095 )
2017
7
A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency. ( 28190287 )
2017
8
Spindle Misorientation of Cerebral and Cerebellar Progenitors Is a Mechanistic Cause of Megalencephaly. ( 28943256 )
2017
9
A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly. ( 28086757 )
2017
10
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly. ( 28969385 )
2017
11
Olfactory nerve hypertrophy: a clue to the presence of ipsilateral megalencephaly. ( 29066644 )
2017
12
Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant. ( 27773430 )
2016
13
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. ( 27159400 )
2016
14
Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea. ( 28018470 )
2016
15
Megalencephaly, polymicrogyria and ribbon-like band heterotopia: A new cortical malformation. ( 27381655 )
2016
16
Megalencephaly-capillary malformation polymicrogyria: A review and complex pediatric case report. ( 27216985 )
2016
17
Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE). ( 27170158 )
2016
18
Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-GoutiA"res syndrome. ( 27091087 )
2016
19
Persistence of megalencephaly in a subgroup of young boys with autism spectrum disorder. ( 27273931 )
2016
20
Severe holocord syrinx in a child with megalencephaly-capillary malformation syndrome. ( 27035547 )
2016
21
HemA+megalencephaly assocA+ated wA+th fetal cardA+ac faA+lure and hydrops. ( 25710787 )
2015
22
Focal megalencephaly: intraoperative ultrasound imaging in epilepsy surgery. ( 26578502 )
2015
23
Detection of a mosaic PIK3CA mutation in dental DNA from a child with megalencephaly capillary malformation syndrome. ( 26351730 )
2015
24
Megalencephaly and Macrocephaly. ( 26060907 )
2015
25
Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia. ( 25523067 )
2015
26
Three cases of right frontal megalencephaly: Clinical characteristics and long-term outcome. ( 26415548 )
2015
27
A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy. ( 26153217 )
2015
28
Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation in AKT3. ( 25416470 )
2015
29
Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities. ( 26542245 )
2015
30
PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia. ( 25722288 )
2015
31
MEGALENCEPHALY, POLYMICROGYRIA, POLYDACTYLY AND HYDROCEPHALUS (MPPH) SYNDROME: A NEW CASE WITH OCCIPITAL ENCEPHALOCELE AND CLEFT PALATE. ( 26852507 )
2015
32
Abnormalities in the zinc-metalloprotease-BDNF axis may contribute to megalencephaly and cortical hyperconnectivity in young autism spectrum disorder patients. ( 25182223 )
2014
33
Unusual presentation of Sturge-Weber syndrome: Progressive megalencephaly with bilateral cutaneous and cortical involvement. ( 25024575 )
2014
34
Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations. ( 24497998 )
2014
35
Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP) - pure coincidence? ( 24939587 )
2014
36
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. ( 24705253 )
2014
37
Megalencephaly and hemimegalencephaly: breakthroughs in molecular etiology. ( 24888963 )
2014
38
AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH. ( 23745724 )
2014
39
Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly. ( 23687350 )
2013
40
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome: a case report. ( 22859694 )
2013
41
Bilateral Periventricular Nodular Heterotopia With Megalencephaly: A Case Report. ( 23439715 )
2013
42
Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome. ( 23754335 )
2013
43
The "megalencephaly-capillary malformation" (MCAP) syndrome: the nomenclature of a highly recognizable multiple congenital anomaly syndrome. ( 23798482 )
2013
44
Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP. ( 23592320 )
2013
45
Four-year follow-up of megalencephaly, polymicrogyria, postaxial polydactyly and hydrocephalus (MPPH) syndrome. ( 24092603 )
2013
46
Syndrome of megalencephaly, mega corpus callosum, and complete lack of motor development: exploring the phenotype. ( 24326961 )
2013
47
Genetics: mutations in mTOR pathway linked to megalencephaly syndromes. ( 22907262 )
2012
48
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. ( 22729224 )
2012
49
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
50
Abnormal gyration of the temporal lobe and megalencephaly are typical features of thanatophoric dysplasia and can be visualized prenatally by ultrasound. ( 22374812 )
2012

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 76)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.08 AKT3 MTOR PIK3CA PIK3R2 PTEN TSC1
2
Show member pathways
13 AKT3 CCND2 MTOR PIK3CA PIK3R2 PTEN
3
Show member pathways
12.99 AKT3 CRADD MTOR PIK3CA PIK3R2 PTEN
4
Show member pathways
12.99 AKT3 CRADD MTOR PTEN STK11 TSC1
5
Show member pathways
12.93 AKT3 EIF2B5 MTOR PIK3CA PIK3R2 PTEN
6
Show member pathways
12.92 AKT3 CCND2 PIK3CA PIK3R2 PTEN
7
Show member pathways
12.89 AKT3 MTOR PIK3CA PIK3R2 PTEN
8
Show member pathways
12.89 AKT3 EIF2B5 MTOR PIK3CA PIK3R2 PTEN
9 12.86 AKT3 CCND2 MTOR PIK3CA PIK3R2 PTEN
10
Show member pathways
12.81 AKT3 MTOR PIK3CA PIK3R2 PTEN
11
Show member pathways
12.81 AKT3 CCND2 MTOR PIK3CA PIK3R2 PTEN
12
Show member pathways
12.79 AKT3 MTOR PIK3CA PIK3R2 PTEN
13
Show member pathways
12.76 AKT3 MTOR PIK3CA PIK3R2 PTEN
14
Show member pathways
12.74 AKT3 MTOR PIK3CA PIK3R2 PTEN
15
Show member pathways
12.69 AKT3 MTOR PIK3CA PIK3R2 PTEN
16
Show member pathways
12.56 MTOR PIK3CA PIK3R2 PTEN TSC1
17 12.55 CCND2 MTOR PIK3CA PIK3R2 PTEN
18
Show member pathways
12.53 AKT3 CCND2 MTOR PIK3CA PIK3R2 PTEN
19
Show member pathways
12.5 AKT3 MTOR PIK3CA PIK3R2
20
Show member pathways
12.46 AKT3 MTOR PIK3CA PIK3R2
21 12.45 AKT3 CCND2 PIK3CA PIK3R2
22
Show member pathways
12.45 MTOR PIK3CA PIK3R2 STK11 STRADA TSC1
23
Show member pathways
12.43 AKT3 CCK PIK3CA PIK3R2
24
Show member pathways
12.43 AKT3 CCND2 MTOR PIK3CA PIK3R2
25
Show member pathways
12.43 AKT3 MTOR PIK3CA PIK3R2 TSC1
26
Show member pathways
12.41 AKT3 PIK3CA PIK3R2 PTEN
27
Show member pathways
12.36 AKT3 MTOR PIK3CA PIK3R2 PTEN
28
Show member pathways
12.33 AKT3 MTOR PIK3R2 TSC1
29
Show member pathways
12.33 AKT3 MTOR PIK3CA PIK3R2 STK11 STRADA
30 12.32 AKT3 CCND2 PIK3CA PIK3R2
31 12.32 AKT3 MTOR PIK3CA PIK3R2
32
Show member pathways
12.25 AKT3 CCND2 MTOR PIK3CA PIK3R2 PTEN
33
Show member pathways
12.24 AKT3 MTOR PIK3CA PIK3R2
34
Show member pathways
12.21 AKT3 MTOR PIK3R2 STK11 STRADA TSC1
35
Show member pathways
12.2 EIF2B5 MTOR PIK3CA PIK3R2
36
Show member pathways
12.2 AKT3 MTOR PIK3CA PIK3R2
37 12.2 MTOR PIK3R2 PTEN STK11 TSC1
38
Show member pathways
12.17 AKT3 CRADD MTOR PIK3CA PIK3R2
39
Show member pathways
12.16 AKT3 PIK3CA PIK3R2 PTEN
40
Show member pathways
12.15 AKT3 MTOR PIK3CA PTEN
41 12.14 AKT3 MTOR PIK3CA PIK3R2 PTEN TSC1
42
Show member pathways
12.13 AKT3 CCND2 MTOR PIK3CA PIK3R2 PTEN
43
Show member pathways
12.11 AKT3 MTOR PIK3CA PIK3R2 STK11 TSC1
44
Show member pathways
12.05 AKT3 CCND2 PIK3CA PIK3R2 PTEN STK11
45 12.03 AKT3 PIK3CA PIK3R2 PTEN
46 12.03 AKT3 CCND2 PIK3CA PIK3R2 PTEN
47 12.02 AKT3 MTOR PIK3CA PIK3R2
48 11.99 AKT3 MTOR PIK3R2 PTEN TSC1
49
Show member pathways
11.97 AKT3 MTOR PIK3CA PIK3R2 PTEN
50 11.94 AKT3 MTOR PIK3CA PIK3R2

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 9.44 CCND2 CRADD EIF2B5 HERC1 MTOR PIK3CA
2 neuronal cell body GO:0043025 9.35 CCK MBP MTOR S100B SST

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 9.88 AKT3 CCND2 MTOR PIK3CA STK11 STRADA
2 positive regulation of apoptotic process GO:0043065 9.77 CCK CRADD EIF2B5 PTEN S100B
3 activation of protein kinase activity GO:0032147 9.74 PIK3CA STK11 STRADA
4 axonogenesis GO:0007409 9.73 CCK S100B STK11
5 activation of GTPase activity GO:0090630 9.72 TBC1D7 TBC1D7-LOC100130357 TSC1
6 response to nutrient GO:0007584 9.71 MTOR PTEN SST
7 memory GO:0007613 9.69 CCK PTEN S100B
8 myelination GO:0042552 9.61 EIF2B5 MBP TSC1
9 response to growth factor GO:0070848 9.58 TBC1D7 TBC1D7-LOC100130357
10 T cell receptor signaling pathway GO:0050852 9.56 EIF2B5 PIK3CA PIK3R2 STK11
11 regulation of protein kinase B signaling GO:0051896 9.52 MTOR STK11
12 negative regulation of TOR signaling GO:0032007 9.5 TBC1D7 TBC1D7-LOC100130357 TSC1
13 negative regulation of cilium assembly GO:1902018 9.49 TBC1D7 TBC1D7-LOC100130357
14 astrocyte differentiation GO:0048708 9.48 EIF2B5 S100B
15 positive regulation of sensory perception of pain GO:1904058 9.46 CCK MTOR
16 negative regulation of macroautophagy GO:0016242 9.33 MTOR PIK3CA TSC1
17 anoikis GO:0043276 9.13 MTOR PIK3CA STK11
18 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 protein kinase activity GO:0004672 9.55 AKT3 CCND2 MTOR STK11 STRADA
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

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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