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MCID: MGL013
MIFTS: 50

Megalencephaly

Categories: Fetal diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Megalencephaly

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MalaCards integrated aliases for Megalencephaly:

Name: Megalencephaly 55 60 30 6
Macroencephaly 60

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 34 35
Orphanet: 60  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 34 Q04.5
ICD10 via Orphanet 35 Q04.5
UMLS via Orphanet 75 C0221355 C2720434
Orphanet 60 ORPHA2477
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Summaries for Megalencephaly

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NINDS : 55 Megalencephaly, also called macrencephaly, is a condition in which an infant or child has an abnormally large, heavy, and usually malfunctioning brain. By definition, the brain weight is greater than average for the age and gender of the child. Head enlargement may be evident at birth or the head may become abnormally large in the early years of life. Megalencephaly is thought to be related to a disturbance in the regulation of cell production in the brain. In normal development, neuron proliferation - the process in which nerve cells divide to form new generations of cells - is regulated so that the correct number of cells is produced in the proper place at the appropriate time. In a megalencephalic brain, too many cells are produced either during development or progressively as part of another disorder, such as one of the neurofibromatoses or leukodystrophies. Symptoms of megalencephaly include delayed development, seizures, and corticospinal (brain cortex and spinal cord) dysfunction. Megalencephaly affects males more often than females. Unilateral megalencephaly or hemimegalencephaly is a rare condition that is characterized by the enlargement of one side of the brain. Children with this disorder may have a large, asymmetrical head accompanied by seizures, partial paralysis, and impaired cognitive development. Megalencephaly is different from macrocephaly (also called megacephaly or megalocephaly), which describes a big head, and which doesn’t necessarily indicate abnormality. Large head size is passed down through the generations in some families.

MalaCards based summary : 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 SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Focal Adhesion. The drugs Sirolimus and Miconazole 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 : 77 Megalencephaly (or macrencephaly; abbreviated MEG) is a growth development disorder in which the brain... more...

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Related Diseases for Megalencephaly

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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 91)
# Related Disease Score Top Affiliating Genes
1 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 33.9 CCND2 PIK3R2
2 megalencephaly-capillary malformation-polymicrogyria syndrome 33.7 PIK3CA PIK3R2
3 polymicrogyria 30.6 CCND2 PIK3R2
4 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 12.6
5 polyhydramnios, megalencephaly, and symptomatic epilepsy 12.5
6 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 12.5
7 macrocephaly/megalencephaly syndrome, autosomal recessive 12.5
8 leukoencephalopathy, cystic, without megalencephaly 12.5
9 hemimegalencephaly 12.3
10 megalencephaly, autosomal dominant 12.2
11 megalencephaly with dysmyelination 12.2
12 isolated megalencephaly 12.1
13 focal alopecia congenital megalencephaly 12.0
14 rnase t2-deficient leukoencephalopathy 12.0
15 megalencephalic leukoencephalopathy with subcortical cysts 1 11.9
16 cowden syndrome 1 11.6
17 alexander disease 11.6
18 macrocephaly, benign familial 11.3
19 macrocephaly, dysmorphic facies, and psychomotor retardation 11.3
20 mental retardation, autosomal recessive 34, with variant lissencephaly 11.3
21 smith-kingsmore syndrome 11.3
22 pik3ca-related overgrowth spectrum 11.2
23 neurofaciodigitorenal syndrome 11.0
24 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 11.0
25 early-onset parkinsonism-intellectual disability syndrome 11.0
26 hydrocephalus 10.5
27 polydactyly 10.4
28 congenital hydrocephalus 10.4
29 epilepsy 10.2
30 polydactyly, postaxial, type a1 10.2
31 autism 10.2
32 alacrima, achalasia, and mental retardation syndrome 10.1
33 tuberous sclerosis 10.1
34 polyhydramnios 10.1
35 achondroplasia 10.0
36 thanatophoric dysplasia, type i 10.0
37 periventricular nodular heterotopia 10.0
38 autism spectrum disorder 10.0
39 leukodystrophy 10.0
40 colorectal cancer 9.9
41 cleft palate, isolated 9.9
42 macrodactyly 9.9
43 nevus, epidermal 9.9
44 keratosis, seborrheic 9.9
45 sturge-weber syndrome 9.9
46 chromosome 2q35 duplication syndrome 9.9
47 tuberous sclerosis 1 9.9
48 ataxia-telangiectasia 9.9
49 lung cancer 9.9
50 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.9

Graphical network of the top 20 diseases related to Megalencephaly:



Diseases related to Megalencephaly
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Symptoms & Phenotypes for Megalencephaly

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Human phenotypes related to Megalencephaly:

60 33 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000256
2 short neck 60 33 hallmark (90%) Very frequent (99-80%) HP:0000470
3 frontal bossing 60 33 hallmark (90%) Very frequent (99-80%) HP:0002007
4 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
5 delayed skeletal maturation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002750
6 wide nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000431
7 dolichocephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000268
8 prominent occiput 60 33 hallmark (90%) Very frequent (99-80%) HP:0000269
9 deeply set eye 60 33 hallmark (90%) Very frequent (99-80%) HP:0000490
10 abnormality of the fontanelles or cranial sutures 60 33 hallmark (90%) Very frequent (99-80%) HP:0000235
11 pointed chin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000307
12 truncal obesity 60 33 hallmark (90%) Very frequent (99-80%) HP:0001956
13 genu valgum 60 33 frequent (33%) Frequent (79-30%) HP:0002857
14 macroorchidism 60 33 frequent (33%) Frequent (79-30%) HP:0000053
15 atrial septal defect 60 33 frequent (33%) Frequent (79-30%) HP:0001631
16 long penis 60 33 frequent (33%) Frequent (79-30%) HP:0000040

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

27 (show all 37)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.34 PIK3CA
2 Decreased viability GR00173-A 10.34 PIK3R2
3 Decreased viability GR00221-A-1 10.34 PIK3CA PIK3R2 STRADA
4 Decreased viability GR00221-A-2 10.34 PIK3CA PIK3R2 STRADA
5 Decreased viability GR00221-A-3 10.34 STRADA
6 Decreased viability GR00221-A-4 10.34 PIK3CA PIK3R2 STRADA
7 Decreased viability GR00301-A 10.34 PIK3R2
8 Decreased viability GR00402-S-2 10.34 PIK3CA PIK3R2 STRADA
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 10.13 PIK3R2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 10.13 SCN1A
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 10.13 SCN1A STRADA
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 10.13 SCN1A PIK3CA STRADA
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 10.13 PIK3CA
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 10.13 SCN1A
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 10.13 PIK3CA
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-62 10.13 PIK3R2 SCN1A
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 10.13 PIK3R2
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 10.13 STRADA
19 Increased shRNA abundance (Z-score > 2) GR00366-A-106 9.62 STRADA
20 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.62 PIK3CA
21 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.62 STRADA
22 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.62 PIK3CA
23 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.62 PIK3CA
24 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.62 PIK3CA
25 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.62 PIK3CA SCN1A STRADA
26 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.62 SCN1A
27 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.62 SCN1A
28 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.62 PIK3CA
29 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.62 SCN1A
30 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.62 SCN1A
31 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.62 PIK3CA
32 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.62 PIK3CA
33 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.62 STRADA
34 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.62 STRADA
35 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.62 SCN1A
36 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.62 SCN1A
37 Decreased cell migration GR00055-A-1 9.43 PIK3CA PIK3R2 STRADA
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Drugs & Therapeutics for Megalencephaly

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

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 46835353 5284616 6436030
2
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
3
Everolimus Approved Phase 1, Phase 2 159351-69-6 70789204 6442177
4 Anti-Bacterial Agents Phase 1, Phase 2
5 Anti-Infective Agents Phase 1, Phase 2
6 Immunosuppressive Agents Phase 1, Phase 2
7 Immunologic Factors Phase 1, Phase 2
8 Antifungal Agents Phase 1, Phase 2
9 Antibiotics, Antitubercular 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

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Genetic Tests for Megalencephaly

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Genetic tests related to Megalencephaly:

# Genetic test Affiliating Genes
1 Megalencephaly 30
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Anatomical Context for Megalencephaly

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MalaCards organs/tissues related to Megalencephaly:

42
Brain, Spinal Cord, Cortex, Eye, Temporal Lobe, Heart, Tongue
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Publications for Megalencephaly

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Articles related to Megalencephaly:

(show top 50) (show all 152)
# Title Authors Year
1
Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature. ( 30569621 )
2019
2
Novel Homozygous Deletion in STRADA Gene Associated With Polyhydramnios, Megalencephaly, and Epilepsy in 2 Siblings: Implications for Diagnosis and Treatment. ( 30311510 )
2018
3
A Novel CCND2 Mutation in a Previously Reported Case of Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus. ( 29642246 )
2018
4
Commentary on "Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea". ( 29441111 )
2018
5
Dysplastic megalencephaly phenotype presenting with prenatal high-output cardiac failure. ( 29594439 )
2018
6
Co-occurrence of mutations in FOXP1 and PTCH1 in a girl with extreme megalencephaly, callosal dysgenesis and profound intellectual disability. ( 30181650 )
2018
7
MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome. ( 30573562 )
2018
8
From microcephaly to megalencephaly: determinants of brain size. ( 30936767 )
2018
9
A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency. ( 28190287 )
2017
10
Megalencephaly-capillary malformation polymicrogyria: A review and complex pediatric case report. ( 27216985 )
2017
11
A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly. ( 28086757 )
2017
12
A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment. ( 28658095 )
2017
13
Spindle Misorientation of Cerebral and Cerebellar Progenitors Is a Mechanistic Cause of Megalencephaly. ( 28943256 )
2017
14
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly. ( 28969385 )
2017
15
Olfactory nerve hypertrophy: a clue to the presence of ipsilateral megalencephaly. ( 29066644 )
2017
16
Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome. ( 27091087 )
2016
17
Megalencephaly, polymicrogyria and ribbon-like band heterotopia: A new cortical malformation. ( 27381655 )
2016
18
Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant. ( 27773430 )
2016
19
A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy. ( 26153217 )
2016
20
Detection of a mosaic PIK3CA mutation in dental DNA from a child with megalencephaly capillary malformation syndrome. ( 26351730 )
2016
21
Three cases of right frontal megalencephaly: Clinical characteristics and long-term outcome. ( 26415548 )
2016
22
Severe holocord syrinx in a child with megalencephaly-capillary malformation syndrome. ( 27035547 )
2016
23
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. ( 27159400 )
2016
24
Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE). ( 27170158 )
2016
25
Persistence of megalencephaly in a subgroup of young boys with autism spectrum disorder. ( 27273931 )
2016
26
Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea. ( 28018470 )
2016
27
MEGALENCEPHALY, POLYMICROGYRIA, POLYDACTYLY AND HYDROCEPHALUS (MPPH) SYNDROME: A NEW CASE WITH OCCIPITAL ENCEPHALOCELE AND CLEFT PALATE. ( 26852507 )
2015
28
Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia. ( 25523067 )
2015
29
Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP)--pure coincidence? ( 24939587 )
2015
30
Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation in AKT3. ( 25416470 )
2015
31
PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia. ( 25722288 )
2015
32
Megalencephaly and Macrocephaly. ( 26060907 )
2015
33
Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities. ( 26542245 )
2015
34
Focal megalencephaly: intraoperative ultrasound imaging in epilepsy surgery. ( 26578502 )
2015
35
Megalencephaly and hemimegalencephaly: breakthroughs in molecular etiology. ( 24888963 )
2014
36
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. ( 24705253 )
2014
37
Bilateral periventricular nodular heterotopia with megalencephaly: a case report. ( 23439715 )
2014
38
AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH. ( 23745724 )
2014
39
Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations. ( 24497998 )
2014
40
Unusual presentation of Sturge-Weber syndrome: Progressive megalencephaly with bilateral cutaneous and cortical involvement. ( 25024575 )
2014
41
Abnormalities in the zinc-metalloprotease-BDNF axis may contribute to megalencephaly and cortical hyperconnectivity in young autism spectrum disorder patients. ( 25182223 )
2014
42
Four-year follow-up of megalencephaly, polymicrogyria, postaxial polydactyly and hydrocephalus (MPPH) syndrome. ( 24092603 )
2013
43
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome: a case report. ( 22859694 )
2013
44
Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP. ( 23592320 )
2013
45
Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly. ( 23687350 )
2013
46
Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome. ( 23754335 )
2013
47
The "megalencephaly-capillary malformation" (MCAP) syndrome: the nomenclature of a highly recognizable multiple congenital anomaly syndrome. ( 23798482 )
2013
48
Syndrome of megalencephaly, mega corpus callosum, and complete lack of motor development: exploring the phenotype. ( 24326961 )
2013
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
Lack of Pur-alpha alters postnatal brain development and causes megalencephaly. ( 22010047 )
2012
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Variations for Megalencephaly

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ClinVar genetic disease variations for Megalencephaly:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN1A NM_001202435.2(SCN1A): c.3327dup (p.Ser1110Glnfs) duplication Pathogenic GRCh38 Chromosome 2, 166036150: 166036150
2 SCN1A NM_001202435.2(SCN1A): c.3327dup (p.Ser1110Glnfs) duplication Pathogenic GRCh37 Chromosome 2, 166892659: 166892660
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Expression for Megalencephaly

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Search GEO for disease gene expression data for Megalencephaly.
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Pathways for Megalencephaly

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Pathways related to Megalencephaly according to GeneCards Suite gene sharing:

(show all 49)
# Super pathways Score Top Affiliating Genes
1
PI3K-Akt signaling pathway 38
Show member pathways
 12.71 CCND2 PIK3CA PIK3R2
2
Focal Adhesion 1 38
Show member pathways
 12.61 CCND2 PIK3CA PIK3R2
3
Pathways in cancer 38
12.56 CCND2 PIK3CA PIK3R2
4
Glioma 38
Show member pathways
 12.4 CCND2 PIK3CA PIK3R2
5
MicroRNAs in cancer 38
12.23 CCND2 PIK3CA PIK3R2
6
mTOR signaling pathway (KEGG) 38
Show member pathways
 12.2 PIK3CA PIK3R2 STRADA
7
Prolactin Signaling Pathway 1 38
Show member pathways
 12.16 CCND2 PIK3CA PIK3R2
8
JAK-STAT signaling pathway (KEGG) 66
Show member pathways
 12.11 CCND2 PIK3CA PIK3R2
9
AMP-activated Protein Kinase (AMPK) Signaling 1
Show member pathways
 12.1 PIK3CA PIK3R2 STRADA
10
mTOR signalling 67
Show member pathways
 12.05 PIK3CA PIK3R2 STRADA
11
Development IGF-1 receptor signaling 23
Show member pathways
 12.02 CCND2 PIK3CA PIK3R2
12
Human T-cell leukemia virus 1 infection 38
12.01 CCND2 PIK3CA PIK3R2
13
MAPK Signaling: Mitogen Stimulation Pathway 66
Show member pathways
 11.88 CCND2 PIK3CA PIK3R2
14
Viral carcinogenesis 38
11.8 CCND2 PIK3CA PIK3R2
15
Sphingolipid signaling pathway 38
11.78 PIK3CA PIK3R2
16
Thyroid hormone signaling pathway 38
11.76 PIK3CA PIK3R2
17
TNF signaling pathway 38
11.74 PIK3CA PIK3R2
18
Insulin resistance 38
Show member pathways
 11.73 PIK3CA PIK3R2
19
HIF-1 signaling pathway 38
11.69 PIK3CA PIK3R2
20
AGE-RAGE signaling pathway in diabetic complications 38
11.69 PIK3CA PIK3R2
21
Amoebiasis 38
11.67 PIK3CA PIK3R2
22
Type II diabetes mellitus 1 38
Show member pathways
 11.66 PIK3CA PIK3R2
23
Small cell lung cancer 38
11.65 PIK3CA PIK3R2
24
PI3K / Akt Signaling 4
11.64 PIK3CA PIK3R2
25
Cellular senescence (KEGG) 38
11.64 CCND2 PIK3CA PIK3R2
26
Fc gamma R-mediated phagocytosis 38
11.63 PIK3CA PIK3R2
27
VEGF Pathway (Tocris) 62
Show member pathways
 11.58 PIK3CA PIK3R2
28
Bacterial invasion of epithelial cells 38
11.52 PIK3CA PIK3R2
29
Platinum drug resistance 38
11.51 PIK3CA PIK3R2
30
Human Thyroid Stimulating Hormone (TSH) signaling pathway 1
11.48 PIK3CA PIK3R2
31
IL2 signaling events mediated by PI3K 1
Show member pathways
 11.47 CCND2 PIK3CA
32
FoxO signaling pathway 38
Show member pathways
 11.47 CCND2 PIK3CA PIK3R2
33
Central carbon metabolism in cancer 38
11.45 PIK3CA PIK3R2
34
IL-2 Gene Expression in Activated and Quiescent T-Cells 65
Show member pathways
 11.4 PIK3CA PIK3R2
35
Role of phospholipids in phagocytosis 67
Show member pathways
 11.38 PIK3CA PIK3R2
36
Regulation of lipolysis in adipocytes 38
11.36 PIK3CA PIK3R2
37
Development_Leptin signaling via PI3K-dependent pathway 23
11.33 PIK3CA PIK3R2
38
Cell adhesion_Plasmin signaling 23
11.3 PIK3CA PIK3R2
39
IL-2 Signaling Pathway 1
Show member pathways
 11.26 CCND2 PIK3CA PIK3R2
40
Carbohydrate digestion and absorption 38
11.25 PIK3CA PIK3R2
41
G13 Signaling Pathway 1
11.21 PIK3CA PIK3R2
42
Aldosterone-regulated sodium reabsorption 38
11.16 PIK3CA PIK3R2
43
IL-10 Pathway 65
11.13 CCND2 PIK3R2
44
PI3K-AKT-mTOR signaling pathway and therapeutic opportunities 1
11.02 PIK3CA PIK3R2
45
Telomere Extension by Telomerase 65
Show member pathways
 10.99 PIK3CA PIK3R2
46
DNA Damage Response (only ATM dependent) 1
10.86 CCND2 PIK3CA PIK3R2
47
Cytoskeleton remodeling_Role of PDGFs in cell migration 23
10.79 PIK3CA PIK3R2
48
Nephrin interactions 67
10.75 PIK3CA PIK3R2
49
Regulation of signaling by CBL 67
10.62 PIK3CA PIK3R2
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GO Terms for Megalencephaly

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

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol 3-kinase complex GO:0005942 8.62 PIK3CA PIK3R2

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

# Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 9.54 CCND2 PIK3CA STRADA
2 phosphatidylinositol phosphorylation GO:0046854 9.4 PIK3CA PIK3R2
3 activation of protein kinase activity GO:0032147 9.32 PIK3CA STRADA
4 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.26 PIK3CA PIK3R2
5 phosphatidylinositol-mediated signaling GO:0048015 8.96 PIK3CA PIK3R2
6 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 8.85 PIK3CA
7 phosphatidylinositol 3-kinase signaling GO:0014065 8.62 PIK3CA PIK3R2

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

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 8.85 PIK3CA
2 1-phosphatidylinositol-3-kinase activity GO:0016303 8.65 PIK3CA
3 protein kinase activator activity GO:0030295 8.62 PIK3CA STRADA
Sources

Sources for Megalencephaly

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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