MCID: MGL013
MIFTS: 54

Megalencephaly

Categories: Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Megalencephaly

Summaries for Megalencephaly

NINDS : 50 Megalencephaly, also called macrencephaly, is a condition in which an infant or child has an abnormally large, heavy, and usually malfunctioning brain. By definition, the brain weight is greater than average for the age and gender of the child. Head enlargement may be evident at birth or the head may become abnormally large in the early years of life. Megalencephaly is thought to be related to a disturbance in the regulation of cell production in the brain. In normal development, neuron proliferation - the process in which nerve cells divide to form new generations of cells - is regulated so that the correct number of cells is produced in the proper place at the appropriate time. In a megalencephalic brain, too many cells are produced either during development or progressively as part of another disorder, such as one of the neurofibromatoses or leukodystrophies. Symptoms of megalencephaly include delayed development, seizures, and corticospinal (brain cortex and spinal cord) dysfunction. Megalencephaly affects males more often than females. Unilateral megalencephaly or hemimegalencephaly is a rare condition that is characterized by the enlargement of one side of the brain. Children with this disorder may have a large, asymmetrical head accompanied by seizures, partial paralysis, and impaired cognitive development. Megalencephaly is different from macrocephaly (also called megacephaly or megalocephaly), which describes a big head, and which doesn’t necessarily indicate abnormality. Large head size is passed down through the generations in some families.

MalaCards based summary : Megalencephaly, also known as macroencephaly, is related to megalencephaly-capillary malformation-polymicrogyria syndrome and megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, and has symptoms including long penis, macroorchidism and abnormality of the fontanelles or cranial sutures. An important gene associated with Megalencephaly is CCND2 (Cyclin D2), and among its related pathways/superpathways are Endometrial cancer and Regulation of TP53 Activity. 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 Decreased viability and Decreased viability

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 95)
# Related Disease Score Top Affiliating Genes
1 megalencephaly-capillary malformation-polymicrogyria syndrome 34.5 AKT3 PIK3CA
2 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 34.4 AKT3 CCND2 PIK3R2
3 polyhydramnios, megalencephaly, and symptomatic epilepsy 34.0 STK11 STRADA
4 hemimegalencephaly 33.6 AKT3 MTOR PIK3CA
5 hydrocephalus 30.1 AKT3 CCND2 MBP PIK3R2 PTEN
6 congenital heart defects, hamartomas of tongue, and polysyndactyly 29.2 PTEN STK11 TSC1
7 tuberous sclerosis 28.5 MTOR PIK3CA S100B STK11 TBC1D7 TSC1
8 macrocephaly/megalencephaly syndrome, autosomal recessive 12.4
9 leukoencephalopathy, cystic, without megalencephaly 12.3
10 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 12.2
11 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 12.2
12 megalencephaly, autosomal dominant 12.1
13 megalencephaly with dysmyelination 12.0
14 isolated megalencephaly 12.0
15 focal alopecia congenital megalencephaly 11.8
16 rnase t2-deficient leukoencephalopathy 11.8
17 megalencephalic leukoencephalopathy with subcortical cysts 1 11.7
18 cowden syndrome 1 11.4
19 alexander disease 11.4
20 macrocephaly, benign familial 11.2
21 pik3ca-related overgrowth spectrum 11.0
22 neurofaciodigitorenal syndrome 10.8
23 early-onset parkinsonism-intellectual disability syndrome 10.8
24 mental retardation, autosomal recessive 34, with variant lissencephaly 10.8
25 macrocephaly, dysmorphic facies, and psychomotor retardation 10.8
26 thyroid hurthle cell adenoma 10.5 PIK3CA PTEN
27 dermatosis papulosa nigra 10.5 MTOR PIK3CA
28 pancreatic neuroendocrine tumor 10.4 MTOR PIK3CA
29 tumor suppressor gene on chromosome 11 10.4 PIK3CA PTEN
30 polymicrogyria 10.3
31 polymicrogyria, bilateral temporooccipital 10.3
32 female reproductive organ cancer 10.3 PIK3CA PIK3R2 PTEN
33 hydromyelia 10.3 PTEN S100B
34 polydactyly 10.3
35 proteus syndrome 10.2 AKT3 PIK3CA PIK3R2 PTEN
36 cerebral degeneration 10.2 EIF2B5 MLC1 PIK3R2
37 gemistocytic astrocytoma 10.2 PTEN S100B
38 non-functioning pituitary adenoma 10.2 S100B SST
39 mixed type thymoma 10.1 PTEN S100B
40 glioblastoma multiforme 10.1 AKT3 MTOR PIK3CA PTEN
41 glioblastoma 10.1 AKT3 MTOR PIK3CA PTEN
42 thyroid cancer, nonmedullary, 2 10.1 PIK3CA PTEN SST
43 gliosarcoma 10.1 PIK3R2 PTEN S100B
44 cerebritis 10.0
45 adult hepatocellular carcinoma 10.0 PIK3CA TSC1
46 postcholecystectomy syndrome 10.0 CCK SST
47 neuronitis 10.0
48 autism 10.0
49 epilepsy 10.0
50 aggressive digital papillary adenocarcinoma 9.9 PIK3CA S100B

Graphical network of the top 20 diseases related to Megalencephaly:



Diseases related to Megalencephaly

Symptoms & Phenotypes for Megalencephaly

Human phenotypes related to Megalencephaly:

55 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 long penis 55 31 frequent (33%) Frequent (79-30%) HP:0000040
2 macroorchidism 55 31 frequent (33%) Frequent (79-30%) HP:0000053
3 abnormality of the fontanelles or cranial sutures 55 31 hallmark (90%) Very frequent (99-80%) HP:0000235
4 macrocephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000256
5 dolichocephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000268
6 prominent occiput 55 31 hallmark (90%) Very frequent (99-80%) HP:0000269
7 pointed chin 55 31 hallmark (90%) Very frequent (99-80%) HP:0000307
8 wide nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0000431
9 short neck 55 31 hallmark (90%) Very frequent (99-80%) HP:0000470
10 deeply set eye 55 31 hallmark (90%) Very frequent (99-80%) HP:0000490
11 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
12 atrial septal defect 55 31 frequent (33%) Frequent (79-30%) HP:0001631
13 truncal obesity 55 31 hallmark (90%) Very frequent (99-80%) HP:0001956
14 frontal bossing 55 31 hallmark (90%) Very frequent (99-80%) HP:0002007
15 delayed skeletal maturation 55 31 hallmark (90%) Very frequent (99-80%) HP:0002750
16 genu valgum 55 31 frequent (33%) Frequent (79-30%) HP:0002857

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

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

MGI Mouse Phenotypes related to Megalencephaly:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.25 AKT3 CCK CCND2 EIF2B5 MBP MLC1
2 homeostasis/metabolism MP:0005376 10.03 PIK3R2 PTEN S100B SST STK11 TSC1
3 cardiovascular system MP:0005385 10.02 AKT3 CCND2 EIF2B5 MTOR PIK3CA PIK3R2
4 growth/size/body region MP:0005378 10 EIF2B5 MBP MLC1 MTOR PIK3CA AKT3
5 endocrine/exocrine gland MP:0005379 9.97 AKT3 CCK CCND2 MLC1 MTOR PIK3CA
6 neoplasm MP:0002006 9.43 AKT3 PIK3CA PIK3R2 PTEN STK11 TSC1
7 nervous system MP:0003631 9.4 AKT3 CCK CCND2 EIF2B5 MBP MLC1

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 46835353 6436030 5284616
4 Anti-Bacterial Agents Phase 1, Phase 2
5 Anti-Infective Agents Phase 1, Phase 2
6 Antifungal Agents Phase 1, Phase 2
7 Immunosuppressive Agents Phase 1, Phase 2
8 Antibiotics, Antitubercular 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 Genetics, Brain Structure and Thinking Skills in Autism Completed NCT01451983
3 Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations Recruiting NCT02461446
4 Finding Genes With NGS Techniques in Whom Mutations Cause Neurological Diseases Not yet recruiting NCT02340871

Search NIH Clinical Center for Megalencephaly

Genetic Tests for Megalencephaly

Genetic tests related to Megalencephaly:

# Genetic test Affiliating Genes
1 Megalencephaly 28

Anatomical Context for Megalencephaly

MalaCards organs/tissues related to Megalencephaly:

38
Brain, Spinal Cord, Cortex, Eye, Temporal Lobe

Publications for Megalencephaly

Articles related to Megalencephaly:

(show top 50) (show all 145)
# Title Authors Year
1
Commentary on "Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea". ( 29441111 )
2018
2
A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency. ( 28190287 )
2017
3
Spindle Misorientation of Cerebral and Cerebellar Progenitors Is a Mechanistic Cause of Megalencephaly. ( 28943256 )
2017
4
Olfactory nerve hypertrophy: a clue to the presence of ipsilateral megalencephaly. ( 29066644 )
2017
5
A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment. ( 28658095 )
2017
6
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly. ( 28969385 )
2017
7
A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly. ( 28086757 )
2017
8
Megalencephaly-capillary malformation polymicrogyria: A review and complex pediatric case report. ( 27216985 )
2016
9
Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea. ( 28018470 )
2016
10
Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-GoutiA"res syndrome. ( 27091087 )
2016
11
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. ( 27159400 )
2016
12
Persistence of megalencephaly in a subgroup of young boys with autism spectrum disorder. ( 27273931 )
2016
13
Severe holocord syrinx in a child with megalencephaly-capillary malformation syndrome. ( 27035547 )
2016
14
Megalencephaly, polymicrogyria and ribbon-like band heterotopia: A new cortical malformation. ( 27381655 )
2016
15
Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant. ( 27773430 )
2016
16
Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE). ( 27170158 )
2016
17
Megalencephaly and Macrocephaly. ( 26060907 )
2015
18
Three cases of right frontal megalencephaly: Clinical characteristics and long-term outcome. ( 26415548 )
2015
19
HemA+megalencephaly assocA+ated wA+th fetal cardA+ac faA+lure and hydrops. ( 25710787 )
2015
20
Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia. ( 25523067 )
2015
21
Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation in AKT3. ( 25416470 )
2015
22
PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia. ( 25722288 )
2015
23
Focal megalencephaly: intraoperative ultrasound imaging in epilepsy surgery. ( 26578502 )
2015
24
MEGALENCEPHALY, POLYMICROGYRIA, POLYDACTYLY AND HYDROCEPHALUS (MPPH) SYNDROME: A NEW CASE WITH OCCIPITAL ENCEPHALOCELE AND CLEFT PALATE. ( 26852507 )
2015
25
A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy. ( 26153217 )
2015
26
Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities. ( 26542245 )
2015
27
Detection of a mosaic PIK3CA mutation in dental DNA from a child with megalencephaly capillary malformation syndrome. ( 26351730 )
2015
28
Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations. ( 24497998 )
2014
29
Abnormalities in the zinc-metalloprotease-BDNF axis may contribute to megalencephaly and cortical hyperconnectivity in young autism spectrum disorder patients. ( 25182223 )
2014
30
Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP) - pure coincidence? ( 24939587 )
2014
31
Unusual presentation of Sturge-Weber syndrome: Progressive megalencephaly with bilateral cutaneous and cortical involvement. ( 25024575 )
2014
32
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. ( 24705253 )
2014
33
Megalencephaly and hemimegalencephaly: breakthroughs in molecular etiology. ( 24888963 )
2014
34
Bilateral Periventricular Nodular Heterotopia With Megalencephaly: A Case Report. ( 23439715 )
2013
35
AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH. ( 23745724 )
2013
36
The "megalencephaly-capillary malformation" (MCAP) syndrome: the nomenclature of a highly recognizable multiple congenital anomaly syndrome. ( 23798482 )
2013
37
Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP. ( 23592320 )
2013
38
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome: a case report. ( 22859694 )
2013
39
Syndrome of megalencephaly, mega corpus callosum, and complete lack of motor development: exploring the phenotype. ( 24326961 )
2013
40
Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly. ( 23687350 )
2013
41
Four-year follow-up of megalencephaly, polymicrogyria, postaxial polydactyly and hydrocephalus (MPPH) syndrome. ( 24092603 )
2013
42
Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome. ( 23754335 )
2013
43
Genetics: mutations in mTOR pathway linked to megalencephaly syndromes. ( 22907262 )
2012
44
Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis. ( 22228622 )
2012
45
Lack of Pur-alpha alters postnatal brain development and causes megalencephaly. ( 22010047 )
2012
46
Abnormal gyration of the temporal lobe and megalencephaly are typical features of thanatophoric dysplasia and can be visualized prenatally by ultrasound. ( 22374812 )
2012
47
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. ( 22729224 )
2012
48
Congenital cytomegalovirus infection resembling cystic leukoencephalopathy without megalencephaly. ( 20434699 )
2010
49
Megalencephaly, mega corpus callosum, and complete lack of motor development: delineation of a rare syndrome. ( 20803648 )
2010
50
Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus. ( 20503325 )
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 74)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.08 AKT3 CCND2 MTOR PIK3CA PIK3R2 PTEN
2
Show member pathways
13 AKT3 CRADD MTOR PTEN STK11 TSC1
3
Show member pathways
12.96 AKT3 CCND2 MTOR PIK3CA PIK3R2 PTEN
4
Show member pathways
12.93 AKT3 EIF2B5 MTOR PIK3CA PIK3R2 PTEN
5
Show member pathways
12.91 AKT3 CCND2 PIK3CA PIK3R2 PTEN
6 12.87 AKT3 CCND2 MTOR PIK3CA PIK3R2 PTEN
7
Show member pathways
12.81 AKT3 MTOR PIK3CA PIK3R2 PTEN
8
Show member pathways
12.81 AKT3 EIF2B5 MTOR PIK3R2 PTEN
9
Show member pathways
12.79 AKT3 MTOR PIK3CA PIK3R2 PTEN
10
Show member pathways
12.76 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
12.6 AKT3 MTOR PIK3CA PIK3R2 PTEN
14
Show member pathways
12.55 MTOR PIK3CA PIK3R2 PTEN TSC1
15 12.54 CCND2 MTOR PIK3CA PIK3R2 PTEN
16
Show member pathways
12.52 AKT3 MTOR PIK3CA PIK3R2
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
12.46 AKT3 MTOR PIK3CA PIK3R2
20
Show member pathways
12.45 MTOR PIK3CA PIK3R2 STK11 STRADA TSC1
21 12.44 AKT3 CCND2 PIK3CA PIK3R2
22
Show member pathways
12.43 AKT3 MTOR PIK3CA PIK3R2 TSC1
23
Show member pathways
12.41 AKT3 PIK3CA PIK3R2 PTEN
24
Show member pathways
12.4 AKT3 CCND2 MTOR PIK3CA PIK3R2
25
Show member pathways
12.36 AKT3 MTOR PIK3CA PIK3R2 STK11 STRADA
26
Show member pathways
12.35 AKT3 MTOR PIK3CA PIK3R2 PTEN
27
Show member pathways
12.33 AKT3 MTOR PIK3R2 TSC1
28 12.32 AKT3 MTOR PIK3CA PIK3R2
29
Show member pathways
12.25 AKT3 CCND2 MTOR PIK3CA PIK3R2 PTEN
30
Show member pathways
12.24 AKT3 MTOR PIK3CA PIK3R2
31
Show member pathways
12.22 AKT3 MTOR PIK3R2 STK11 STRADA TSC1
32
Show member pathways
12.22 AKT3 CCND2 MTOR PIK3CA PIK3R2 PTEN
33
Show member pathways
12.21 AKT3 MTOR PIK3CA PIK3R2
34
Show member pathways
12.2 EIF2B5 MTOR PIK3CA PIK3R2
35 12.19 MTOR PIK3R2 PTEN STK11 TSC1
36
Show member pathways
12.18 AKT3 MTOR PIK3CA PIK3R2
37
Show member pathways
12.17 AKT3 PIK3CA PIK3R2 PTEN
38
Show member pathways
12.17 AKT3 CRADD MTOR PIK3CA PIK3R2
39
Show member pathways
12.15 AKT3 MTOR PIK3CA PTEN
40
Show member pathways
12.11 AKT3 MTOR PIK3CA PIK3R2 STK11 TSC1
41
Show member pathways
12.05 AKT3 CCND2 PIK3CA PIK3R2 PTEN STK11
42 12.04 AKT3 PIK3CA PIK3R2 PTEN
43 12.03 AKT3 CCND2 PIK3CA PIK3R2 PTEN
44 12.02 AKT3 MTOR PIK3CA PIK3R2
45 12 AKT3 MTOR PIK3R2 PTEN TSC1
46
Show member pathways
11.98 AKT3 MTOR PIK3CA PIK3R2 PTEN
47 11.97 AKT3 CCND2 MTOR PTEN STK11 TSC1
48 11.96 AKT3 PIK3CA PIK3R2
49 11.94 AKT3 MTOR PIK3CA PIK3R2
50 11.92 AKT3 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 9.93 CCND2 CRADD EIF2B5 MTOR PIK3CA PIK3R2
2 neuronal cell body GO:0043025 9.35 CCK MBP MTOR S100B SST
3 phosphatidylinositol 3-kinase complex GO:0005942 8.8 MTOR PIK3CA PIK3R2

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

(show all 16)
# 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 9.72 TBC1D7 TBC1D7-LOC100130357 TSC1
3 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.71 CCK MTOR STK11
4 response to nutrient GO:0007584 9.7 MTOR PTEN SST
5 phosphatidylinositol biosynthetic process GO:0006661 9.69 PIK3CA PIK3R2 PTEN
6 activation of protein kinase activity GO:0032147 9.65 PIK3CA STK11 STRADA
7 cell cycle arrest GO:0007050 9.62 MTOR STK11 STRADA TSC1
8 myelination GO:0042552 9.58 EIF2B5 MBP TSC1
9 response to growth factor GO:0070848 9.56 TBC1D7 TBC1D7-LOC100130357
10 regulation of protein kinase B signaling GO:0051896 9.49 MTOR STK11
11 astrocyte differentiation GO:0048708 9.46 EIF2B5 S100B
12 negative regulation of cilium assembly GO:1902018 9.43 TBC1D7 TBC1D7-LOC100130357
13 negative regulation of TOR signaling GO:0032007 9.43 TBC1D7 TBC1D7-LOC100130357 TSC1
14 negative regulation of macroautophagy GO:0016242 9.33 MTOR PIK3CA TSC1
15 anoikis GO:0043276 9.13 MTOR PIK3CA STK11
16 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 binding GO:0005515 9.86 AKT3 CCND2 CRADD EIF2B5 MBP MLC1
2 protein kinase activator activity GO:0030295 8.8 PIK3CA STK11 STRADA

Sources for Megalencephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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