MCID: MGL013
MIFTS: 48

Megalencephaly

Categories: Fetal diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Megalencephaly

MalaCards integrated aliases for Megalencephaly:

Name: Megalencephaly 52 58 5 75 31 33
Macroencephaly 58 33
Macrencephaly 33

Characteristics:


Age Of Onset:

Antenatal,Neonatal 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 31 Q04.5
ICD10 via Orphanet 32 Q04.5
UMLS via Orphanet 72 C0221355 C2720434
Orphanet 58 ORPHA2477
ICD11 33 368780653

Summaries for Megalencephaly

NINDS: 52 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 Signal Transduction and PIP3 activates AKT signaling. Affiliated tissues include brain, spinal cord and cortex, and related phenotypes are macrocephaly and intellectual disability

Orphanet: 58 A rare central nervous system malformation characterized by an abnormally large brain, accompanied by abnormal head circumference measurements evident at birth or developing over the first years of life. The condition can be unilateral or bilateral and affects males more often than females. There is no typical pattern of symptoms, but mental retardation, seizures, and other neurologic abnormalities have been reported.

Wikipedia: 75 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 239)
# Related Disease Score Top Affiliating Genes
1 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 33.0 PIK3R2 CCND2 AKT3
2 megalencephaly-capillary malformation-polymicrogyria syndrome 32.9 PIK3R2 PIK3CA AKT3
3 macrocephaly/megalencephaly syndrome, autosomal recessive 32.6 TBC1D7-LOC100130357 TBC1D7
4 hemimegalencephaly 32.1 PTEN PIK3CA MTOR AKT3
5 cowden syndrome 1 31.6 PTEN PIK3R2 PIK3CA MTOR AKT3
6 polymicrogyria 30.7 PTEN PIK3R2 PIK3CA CCND2 AKT3
7 hydrocephalus 30.6 PTEN PIK3R2 MTOR CCND2 AKT3
8 polydactyly 30.5 PTCH1 PIK3R2 CCND2 AKT3
9 tuberous sclerosis 30.2 TBC1D7 PIK3CA MTOR
10 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 30.1 PTEN PIK3R2 PIK3CA MTOR AKT3
11 polymicrogyria, bilateral perisylvian, x-linked 29.9 PIK3R2 PIK3CA CCND2 AKT3
12 nevus, epidermal 29.4 PTEN PIK3R2 PIK3CA MTOR AKT3
13 basal cell nevus syndrome 29.3 PTEN PTCH1 MYCN
14 cowden syndrome 29.3 PTEN PTCH1 PIK3R2 PIK3CA MTOR AKT3
15 medulloblastoma 28.8 PTEN PTCH1 PIK3CA MYCN MTOR CCND2
16 polyhydramnios, megalencephaly, and symptomatic epilepsy 11.6
17 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 11.6
18 leukoencephalopathy, cystic, without megalencephaly 11.5
19 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 11.5
20 megalencephalic leukoencephalopathy with subcortical cysts 11.5
21 megalencephaly, autosomal dominant 11.4
22 alexander disease 11.3
23 macrocephaly, dysmorphic facies, and psychomotor retardation 11.2
24 megalencephaly with dysmyelination 11.1
25 smith-kingsmore syndrome 11.1
26 intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly 11.1
27 neurofaciodigitorenal syndrome 11.0
28 isolated megalencephaly 10.9
29 macrocephaly, benign familial 10.9
30 megalencephalic leukoencephalopathy with subcortical cysts 1 10.9
31 focal alopecia congenital megalencephaly 10.9
32 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 10.9
33 capillary malformations, congenital 10.5
34 overgrowth syndrome 10.5
35 alacrima, achalasia, and mental retardation syndrome 10.3
36 hypotonia 10.3
37 generalized lymphatic anomaly 10.2 PIK3CA MTOR
38 polydactyly, postaxial, type a1 10.2
39 chromosome 2q35 duplication syndrome 10.2
40 hydrocephalus, congenital, 1 10.2
41 lung oat cell carcinoma 10.2 PTEN PIK3CA
42 thyroid tumor 10.2 PTEN PIK3CA
43 autism spectrum disorder 10.2
44 breast juvenile papillomatosis 10.2 PTEN PIK3CA
45 autism 10.2
46 epilepsy 10.2
47 pik3ca-related overgrowth spectrum 10.2
48 endometrioid ovary carcinoma 10.1 PTEN PIK3CA
49 leukodystrophy 10.1
50 polyhydramnios 10.1

Graphical network of the top 20 diseases related to Megalencephaly:



Diseases related to Megalencephaly

Symptoms & Phenotypes for Megalencephaly

Human phenotypes related to Megalencephaly:

58 30 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000256
2 intellectual disability 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001249
3 frontal bossing 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002007
4 short neck 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000470
5 delayed skeletal maturation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002750
6 wide nasal bridge 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000431
7 prominent occiput 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000269
8 dolichocephaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000268
9 abnormality of the fontanelles or cranial sutures 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000235
10 deeply set eye 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000490
11 pointed chin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000307
12 truncal obesity 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001956
13 macroorchidism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000053
14 genu valgum 58 30 Frequent (33%) Frequent (79-30%)
HP:0002857
15 atrial septal defect 58 30 Frequent (33%) Frequent (79-30%)
HP:0001631
16 long penis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000040

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

25 (show all 29)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.66 MTOR PIK3CA
2 Decreased viability GR00055-A-2 10.66 MTOR PIK3CA
3 Decreased viability GR00173-A 10.66 PIK3R2
4 Decreased viability GR00221-A-1 10.66 AKT3 MAST1 MTOR PIK3CA PIK3R2 STRADA
5 Decreased viability GR00221-A-2 10.66 AKT3 PIK3CA PIK3R2 STRADA
6 Decreased viability GR00221-A-3 10.66 AKT3 MAST1 STRADA
7 Decreased viability GR00221-A-4 10.66 AKT3 MAST1 MTOR PIK3CA PIK3R2 STRADA
8 Decreased viability GR00249-S 10.66 MAST1 PIK3R2
9 Decreased viability GR00301-A 10.66 AKT3 PIK3R2
10 Decreased viability GR00342-S-1 10.66 MTOR
11 Decreased viability GR00342-S-2 10.66 MTOR
12 Decreased viability GR00402-S-2 10.66 MAST1 PIK3CA
13 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.5 MTOR
14 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.5 PTEN
15 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.5 PTEN
16 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.5 PTEN
17 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.5 RNASET2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.5 RNASET2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.5 PTEN
20 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.5 PTEN
21 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.5 MTOR PIK3CA
22 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.5 PTEN
23 Increased shRNA abundance (Z-score > 2) GR00366-A-66 9.5 PTEN
24 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.5 MTOR
25 Increased shRNA abundance (Z-score > 2) GR00366-A-87 9.5 PTEN
26 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.5 PTEN
27 Decreased substrate adherent cell growth GR00193-A-1 9.43 MAST1 STRADA
28 Decreased substrate adherent cell growth GR00193-A-2 9.43 AKT3
29 Decreased substrate adherent cell growth GR00193-A-3 9.43 AKT3 MAST1 STRADA

MGI Mouse Phenotypes related to Megalencephaly:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.06 AKT3 CCND2 MAST1 MLC1 MTOR MYCN
2 homeostasis/metabolism MP:0005376 9.97 AKT3 CCND2 CRADD FOXP1 MLC1 MTOR
3 muscle MP:0005369 9.91 FOXP1 MTOR MYCN PIK3CA PIK3R2 PTCH1
4 growth/size/body region MP:0005378 9.77 AKT3 CCND2 FOXP1 MLC1 MTOR MYCN
5 behavior/neurological MP:0005386 9.4 AKT3 CCND2 FOXP1 MLC1 MTOR MYCN

Drugs & Therapeutics for Megalencephaly

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase II Double-blind Multi-center, Placebo-controlled Trial, to Assess the Efficacy and Safety of Alpelisib (BYL719) in Pediatric and Adult Patients With Megalencephaly-CApillary Malformation Polymicrogyria Syndrome (MCAP) Not yet recruiting NCT05577754 Phase 2 Alpelisib (BYL719);Matching placebo
2 Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations Recruiting NCT02461446
3 Evaluation Nationale Des Enfants et Adultes Avec Syndromes d'Hypercroissance Dysharmonieuse National Evaluation of Patients With PIK3CA-Related Overgrowth Spectrum (PROS) Not yet recruiting NCT05563831

Search NIH Clinical Center for Megalencephaly

Genetic Tests for Megalencephaly

Anatomical Context for Megalencephaly

Organs/tissues related to Megalencephaly:

MalaCards : Brain, Spinal Cord, Cortex, Eye, Temporal Lobe, Fetal Brain, Cerebellum

Publications for Megalencephaly

Articles related to Megalencephaly:

(show top 50) (show all 480)
# Title Authors PMID Year
1
Sleep Problems in Children With Neurocutaneous Syndromes: A Cross-Sectional Study. 62
35918819 2022
2
Brain Abnormalities in PIK3CA-Related Overgrowth Spectrum: Physician, Patient, and Caregiver Experiences. 62
35857185 2022
3
[Smith-Kingsmore syndrome caused by MTOR gene variation: 2 cases and literature review]. 62
36038305 2022
4
LysM-positive neurons drive Tuberous Sclerosis Complex (TSC)-associated brain lesions. 62
36115548 2022
5
Dyke-davidoff-masson syndrome: A case report of an adolescent boy at a tertiary hospital in Adamawa, North-Eastern Nigeria. 62
36149226 2022
6
Cochlear Implantation in a Profoundly Deaf Child with Cystic Leukoencephalopathy without Megalencephaly. 62
35979751 2022
7
Hemimegalencephaly: Evolution From an Atypical Focal Early Appearance on Fetal MRI to More Conventional MR Findings. 62
36120272 2022
8
Prenatal overgrowth and polydramnios: Would you think about Noonan syndrome? 62
36017115 2022
9
Qualitative research with patients and caregivers of patients with PIK3CA related overgrowth spectrum: content validity of clinical outcome assessments. 62
35829859 2022
10
A rare case of hemimegalencephaly diagnosed prenatally. 62
35894497 2022
11
Clinical Conundrum: Polyhydramnios as a Marker for a Fetal Genetic Syndrome in the Canadian Old Order Mennonite Population. 62
35131504 2022
12
Equivocal evidence for a link between megalencephaly-related genes and primate brain size evolution. 62
35764790 2022
13
Thyroid hypogenesis is associated with a novel AKT3 germline variant that causes megalencephaly and cortical malformation. 62
35665751 2022
14
Phenotypic and molecular characterization of five patients with PIK3CA-related overgrowth spectrum (PROS). 62
35238469 2022
15
Clinical and Molecular Spectrum of Sporadic Vascular Malformations: A Single-Center Study. 62
35740480 2022
16
PIK3CA-related overgrowth with an uncommon phenotype: case report. 62
35551640 2022
17
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome (MCAP): A Rare Dynamic Genetic Disorder. 62
35733479 2022
18
Mapping the PIK3CA-related overgrowth spectrum (PROS) patient and caregiver journey using a patient-centered approach. 62
35526022 2022
19
Fetal Brain Development: Regulating Processes and Related Malformations. 62
35743840 2022
20
Prenatal MR Imaging Phenotype of Fetuses with Tuberous Sclerosis: An Institutional Case Series and Literature Review. 62
35332020 2022
21
The utility of cerebrospinal fluid-derived cell-free DNA in molecular diagnostics for the PIK3CA-related megalencephaly-capillary malformation (MCAP) syndrome: a case report. 62
35483878 2022
22
Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K-AKT-mTOR signaling pathway. 62
34170046 2022
23
TAU ablation in excitatory neurons and postnatal TAU knockdown reduce epilepsy, SUDEP, and autism behaviors in a Dravet syndrome model. 62
35476595 2022
24
Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care. 62
35355055 2022
25
Clinical and Laboratory Profile of Gangliosidosis from Southern Part of India. 62
35186388 2022
26
Treating refractory corneal hydrops in a male patient with vernal keratoconjunctivitis and mental retardation: a case report. 62
35073856 2022
27
Brain overgrowth associated with megalencephaly-capillary malformation syndrome causing progressive Chiari and syringomyelia. 62
35673641 2022
28
Endosomal trafficking defects alter neural progenitor proliferation and cause microcephaly. 62
35013230 2022
29
Autism spectrum disorder in a child with megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP). 62
34969807 2021
30
The blended phenotype of a germline RIT1 and a mosaic PIK3CA variant. 62
34887308 2021
31
Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes. 62
34087052 2021
32
Longitudinal Evaluation of Cerebral Growth Across Childhood in Boys and Girls With Autism Spectrum Disorder. 62
33388135 2021
33
The Names of Things: The 2018 Bernard Sachs Lecture. 62
34330614 2021
34
Siblings with megalencephalic leukoencephalopathy with subcortical cysts van der Knaap disease. 62
35136617 2021
35
Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant. 62
34032352 2021
36
Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features. 62
34163010 2021
37
Megalencephaly-capillary malformation syndrome and associated hydrocephalus: treatment options and revision of the literature. 62
34047857 2021
38
The Fetus with Ganglionic Eminence Abnormality: Head Size and Extracranial Sonographic Findings Predict Genetic Diagnoses and Postnatal Outcomes. 62
33958329 2021
39
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities. 62
33833411 2021
40
STRADA-mutant human cortical organoids model megalencephaly and exhibit delayed neuronal differentiation. 62
33619909 2021
41
Megalencephaly Polymicrogyria Polydactyly Hydrocephalus (MPPH): A Case Report and Review of Literature. 62
34354878 2021
42
Homozygous missense STRADA mutation in a patient with polyhydramnios, megalencephaly and symptomatic epilepsy syndrome. 62
33605605 2021
43
Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity. 62
34197453 2021
44
[The etiology of 340 infants with early-onset epilepsy]. 62
33902223 2021
45
Medulloblastoma in the setting of megalencephaly polymicrogyria polydactyly hydrocephalus. 62
33634562 2021
46
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials. 62
33415748 2021
47
CRADD and USP44 mutations in intellectual disability, mild lissencephaly, brain atrophy, developmental delay, strabismus, behavioural problems and skeletal anomalies. 62
33647455 2021
48
Cerebellar dysplasia related to PIK3CA mutation: a three-case series. 62
32901329 2021
49
Novel neonatal presentation of megalencephaly-polymicrogyria-pigmentary mosaicism syndrome (MPPM) related to MTOR mutation: Report of a case. 62
33325571 2021
50
Fetal Megalencephaly with Cortical Dysplasia at 18 Gestational Weeks Related to Paternal UPD Mosaicism with PTEN Mutation. 62
33801456 2021

Variations for Megalencephaly

ClinVar genetic disease variations for Megalencephaly:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PEX6 NM_000287.4(PEX6):c.1680C>G (p.Pro560=) SNV Uncertain Significance
1683500 GRCh37: 6:42936036-42936036
GRCh38: 6:42968298-42968298

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 57)
# Super pathways Score Top Affiliating Genes
1 13.72 STRADA PTEN PTCH1 PIK3R2 PIK3CA MYCN
2
Show member pathways
13.01 PTEN PIK3R2 PIK3CA MTOR AKT3
3
Show member pathways
12.91 AKT3 CRADD MTOR PIDD1 PTEN
4
Show member pathways
12.85 PTEN PIK3R2 PIK3CA MTOR CRADD AKT3
5
Show member pathways
12.82 PTEN PIK3R2 PIK3CA MTOR AKT3
6
Show member pathways
12.81 PTEN PIK3R2 PIK3CA MTOR AKT3
7 12.78 PIK3R2 PIK3CA MYCN MTOR AKT3
8
Show member pathways
12.78 STRADA PTEN PIK3R2 PIK3CA MTOR CCND2
9
Show member pathways
12.68 PTEN PIK3R2 PIK3CA MTOR AKT3
10
Show member pathways
12.64 AKT3 MTOR PIK3CA PIK3R2 PTEN
11 12.62 PTEN PIK3CA MTOR CCND2 AKT3
12
Show member pathways
12.61 PTEN PIK3R2 PIK3CA MTOR AKT3
13
Show member pathways
12.48 PTEN PIK3R2 PIK3CA MTOR
14
Show member pathways
12.45 AKT3 MTOR PIK3CA PIK3R2
15
Show member pathways
12.42 PTEN PIK3R2 PIK3CA AKT3
16
Show member pathways
12.39 PIK3R2 PIK3CA MTOR AKT3
17
Show member pathways
12.37 PTEN PIK3R2 PIK3CA MTOR AKT3
18
Show member pathways
12.35 PIK3R2 PIK3CA MTOR AKT3
19
Show member pathways
12.29 PTEN PIK3R2 PIK3CA AKT3
20
Show member pathways
12.26 PIK3R2 PIK3CA MTOR AKT3
21
Show member pathways
12.19 PTEN PIK3R2 PIK3CA MTOR AKT3
22
Show member pathways
12.15 PIK3R2 PIK3CA MTOR AKT3
23 12.15 PTEN PIK3R2 PIK3CA CCND2 AKT3
24
Show member pathways
12.12 STRADA PIK3R2 MTOR AKT3
25
Show member pathways
12.05 PTEN PIK3CA MTOR AKT3
26
Show member pathways
12.03 AKT3 CCND2 MTOR PIK3CA PIK3R2 PTEN
27
Show member pathways
11.99 TBC1D7-LOC100130357 PTEN MTOR
28 11.99 PTEN MYCN MTOR AKT3
29
Show member pathways
11.97 PIK3R2 PIK3CA AKT3
30
Show member pathways
11.97 PIK3CA MTOR CCND2
31
Show member pathways
11.96 STRADA PIK3R2 PIK3CA MTOR AKT3
32
Show member pathways
11.9 PTEN PIK3R2 PIK3CA AKT3
33
Show member pathways
11.9 PTEN PIK3R2 PIK3CA MTOR CCND2 AKT3
34 11.88 AKT3 MTOR PIK3R2
35 11.86 PIK3R2 MTOR AKT3
36 11.84 PTEN PIDD1 MTOR
37 11.83 PTEN PIK3R2 PIK3CA CCND2
38 11.81 PTEN MTOR AKT3
39 11.79 PTEN PIK3R2 PIK3CA AKT3
40 11.78 AKT3 MTOR PIK3CA
41
Show member pathways
11.75 PIK3R2 PIK3CA AKT3
42
Show member pathways
11.69 AKT3 MTOR PIK3CA PIK3R2
43 11.62 PTEN PIK3CA MYCN
44 11.62 TBC1D7 PTEN PIK3R2 PIK3CA AKT3
45
Show member pathways
11.6 PTEN MTOR AKT3
46
Show member pathways
11.58 PIK3R2 PIK3CA AKT3
47 11.58 PIK3R2 PIK3CA MTOR
48 11.52 PIK3R2 PIK3CA AKT3
49 11.35 PTEN PIK3R2 PIK3CA
50
Show member pathways
11.32 MYCN 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 phosphatidylinositol 3-kinase complex, class IA GO:0005943 9.46 PIK3R2 PIK3CA
2 TSC1-TSC2 complex GO:0033596 9.13 TBC1D7-LOC100130357 TBC1D7
3 endopeptidase complex GO:1905369 8.92 PIDD1 CRADD

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell size GO:0045792 9.26 PTEN MTOR
2 phosphatidylinositol 3-kinase signaling GO:0014065 9.1 PTEN PIK3R2 PIK3CA

Sources for Megalencephaly

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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