MCID: MGL013
MIFTS: 51

Megalencephaly malady

Categories: Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Megalencephaly

About this section
Sources:
27GTR, 30ICD10, 31ICD10 via Orphanet, 49NINDS, 54Orphanet, 64The Human Phenotype Ontology, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Megalencephaly:

Name: Megalencephaly 49 54 27
 
Macroencephaly 54

Characteristics:


Classifications:



External Ids:

Orphanet54 ORPHA2477
ICD10 via Orphanet31 Q04.5
UMLS via Orphanet69 C0221355, C2720434
ICD1030 Q04.5

Summaries for Megalencephaly

About this section
NINDS:49 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, somatic and megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, and has symptoms including abnormality of the fontanelles or cranial sutures, macrocephaly and dolichocephaly. An important gene associated with Megalencephaly is CCND2 (Cyclin D2), and among its related pathways are Regulation of signaling by CBL and Carbohydrate digestion and absorption. Affiliated tissues include brain, spinal cord and cortex, and related mouse phenotypes are Decreased cell migration and Increased shRNA abundance (Z-score > 2).

Wikipedia:71 Megalencephaly (or macrencephaly, abbreviated MEG) is a growth development disorder in which the brain... more...

Related Diseases for Megalencephaly

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

(show top 50)    (show all 82)
idRelated DiseaseScoreTop Affiliating Genes
1megalencephaly-capillary malformation-polymicrogyria syndrome, somatic12.2
2megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 112.2
3polyhydramnios, megalencephaly, and symptomatic epilepsy12.2
4megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 212.1
5megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 312.1
6macrocephaly/megalencephaly syndrome, autosomal recessive12.1
7hemimegalencephaly12.1
8leukoencephalopathy, cystic, without megalencephaly12.1
9isolated megalencephaly11.8
10megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, somatic11.7
11focal alopecia congenital megalencephaly11.7
12megalencephaly-severe kyphoscoliosis-overgrowth syndrome11.7
13megalencephalic leukoencephalopathy with subcortical cysts11.6
14mpph syndrome11.5
15cowden syndrome 111.4
16alexander disease11.3
17macrocephaly, benign familial10.7
18rnase t2-deficient leukoencephalopathy10.7
19interstitial myocarditis10.6PIK3CA, PTEN
20megalocornea-intellectual disability syndrome10.5AKT3, CCND2, PIK3R2
21cataract 710.4STK11, STRADA
22cowden syndrome 610.4AKT3, PIK3CA, PTEN
23vaginal adenosarcoma10.4PIK3CA, PIK3R2
24spongiotic dermatitis10.4MTOR, PIK3CA
25pancreatitis, pediatric10.4MTOR, PIK3CA
26pelvic varices10.3CCK, SST
27hemochromatosis type 210.3AKT3, MTOR, PIK3CA
28polymicrogyria10.2
29hydrocephalus10.2
30endocrine gland cancer10.2CCK, PIK3CA, SST
31lipoma of the rectum10.2PIK3CA, PTEN, STK11
32encapsulated thymoma10.2AKT3, MTOR, PIK3CA
33polydactyly10.2
34spinocerebellar ataxia, autosomal recessive 210.2MTOR, TSC1
35frontotemporal dementia and/or amyotrophic lateral sclerosis 410.1PIK3CA, PTEN, SST
36zimmermann-laband syndrome 210.1MTOR, PIK3CA, PTEN
37hypotonia10.0PTEN, S100B
38gliomatosis peritonei10.0AKT3, MTOR, PIK3CA, PTEN
39congenital fibrosarcoma10.0MTOR, TSC1
40clitoris cancer10.0AKT3, PIK3CA, PTEN, RNASET2
41herpes simplex encephalitic 69.9PTEN, STK11, TSC1
42epilepsy9.9
43neuronitis9.9
44pituitary deficiency due to rathke's pouch cysts9.9S100B, SST
45combat disorder9.9MTOR, PIK3CA
46pilomyxoid astrocytoma9.9MTOR, TSC1
47cerebritis9.9
48neonatal infective mastitis9.8AKT3, MTOR, TBC1D7, TSC1
49cauda equina intradural extramedullary astrocytoma9.8MTOR, TSC1
50achondroplasia9.8

Graphical network of the top 20 diseases related to Megalencephaly:



Diseases related to megalencephaly

Symptoms & Phenotypes for Megalencephaly

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Human phenotypes related to Megalencephaly:

 64 54 (show all 20)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the fontanelles or cranial sutures64 54 hallmark (90%) Very frequent (99-80%) HP:0000235
2 macrocephaly64 54 hallmark (90%) Very frequent (99-80%) HP:0000256
3 dolichocephaly64 54 hallmark (90%) Very frequent (99-80%) HP:0000268
4 prominent occiput64 54 hallmark (90%) Very frequent (99-80%) HP:0000269
5 pointed chin64 54 hallmark (90%) Very frequent (99-80%) HP:0000307
6 abnormality of the nose64 hallmark (90%) HP:0000366
7 short neck64 54 hallmark (90%) Very frequent (99-80%) HP:0000470
8 deeply set eye64 54 hallmark (90%) Very frequent (99-80%) HP:0000490
9 truncal obesity64 54 hallmark (90%) Very frequent (99-80%) HP:0001956
10 frontal bossing64 54 hallmark (90%) Very frequent (99-80%) HP:0002007
11 delayed skeletal maturation64 54 hallmark (90%) Very frequent (99-80%) HP:0002750
12 cognitive impairment64 hallmark (90%) HP:0100543
13 long penis64 54 typical (50%) Frequent (79-30%) HP:0000040
14 macroorchidism64 54 typical (50%) Frequent (79-30%) HP:0000053
15 atria septal defect64 typical (50%) HP:0001631
16 genu valgum64 54 typical (50%) Frequent (79-30%) HP:0002857
17 intellectual disability64 54 Very frequent (99-80%) HP:0001249
18 megalencephaly64 HP:0001355
19 wide nasal bridge54 Very frequent (99-80%)
20 defect in the atrial septum54 Frequent (79-30%)

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00055-A-19.1AKT3, MTOR, PIK3CA, PIK3R2, STRADA, TSC1
2GR00366-A-358.7MTOR, PIK3CA, PTEN, RNASET2, TSC1
3GR00381-A-16.8AKT3, MTOR, PIK3CA, PIK3R2, STRADA, AKT3

MGI Mouse Phenotypes related to Megalencephaly according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.0AKT3, PIK3CA, PIK3R2, PTEN, STK11, TSC1
2MP:00053798.3AKT3, CCK, CCND2, MTOR, PIK3CA, PTEN
3MP:00036316.4AKT3, CCK, CCND2, EIF2B5, MBP, MLC1
4MP:00053765.7AKT3, CCK, CCND2, EIF2B5, MBP, MTOR
5MP:00053865.4AKT3, CCK, CCND2, EIF2B5, MBP, MLC1

Drugs & Therapeutics for Megalencephaly

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

(show all 8)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Miconazoleapproved, investigational, vet_approvedPhase 1, Phase 2362422916-47-84189
Synonyms:
(+-)-1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl) imidazole
1-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]imidazole
1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole
1-[2-(2,4-Dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]-1H-imidazole
1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole
1-[2-(2,4-dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]imidazole
1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole
1-{2-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole
22832-87-7 (NITRATE)
22916-47-8
75319-47-0
AB00053500
AC1L1HM1
AKOS001574474
Aflorix(nitrate)
Albistat(nitrate)
Andergin(nitrate)
BPBio1_000279
BRD-A82396632-001-03-0
BRD-A82396632-008-02-7
BRN 0965511
BSPBio_000253
BSPBio_002033
CCRIS 7924
CHEBI:6923
CHEMBL91
CID4189
CPD-4501
Conofite(nitrate)
D00416
DB01110
Dactarin
Daktarin IV
Daktarin iv
DivK1c_000156
EINECS 245-324-5
Epi-Monistat(nitrate)
Femizol-M
Florid(nitrate)
Gyno-Daktar(nitrate)
HMS1568M15
HMS2090B21
I14-14342
IDI1_000156
Imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl)methoxy)ethyl)- (9CI)
KBio1_000156
KBio2_001445
KBio2_004013
KBio2_006581
KBio3_001533
KBioGR_000581
KBioSS_001445
LS-78378
Lotrimin AF(nitrate)
MCZ
MJR 1762
MLS002222203
Micantin (nitrate)
Miconasil Nitrate
 
Miconazol
Miconazol [INN-Spanish]
Miconazole
Miconazole (JP15/USP/INN)
Miconazole 3
Miconazole 3 Combination Pack
Miconazole 7 Combination Pack
Miconazole [USAN:BAN:INN:JAN]
Miconazole nitrate salt
Miconazole-7
Miconazolo
Miconazolo [DCIT]
Miconazolum
Miconazolum [INN-Latin]
Micozole
Minostate
MolPort-002-557-553
Monazole 7
Monista (nitrate)
Monistat
Monistat (TN)
Monistat 1 Combination Pack
Monistat 3 Dual-Pak
Monistat 3 Vaginal Ovules
Monistat 5 Tampon
Monistat 7 Dual-Pak
Monistat 7 Vaginal Suppositories
Monistat Dual- PAK
Monistat IV
Monistat iv (TN)
Monistat iv (tn)
Monistat-Derm
NCI60_001353
NCI60_001380
NINDS_000156
NSC 170986
NSC169434
NSC170986
Novo-Miconazole Vaginal Ovules
Oprea1_091955
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
SMR001307249
SPBio_000976
SPBio_002174
STK834405
STOCK1S-93556
Spectrum2_001048
Spectrum3_000507
Spectrum4_000061
Spectrum5_001297
Spectrum_000965
UNII-7NNO0D7S5M
Vusion
Zimycan
imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)
miconazole
2
Sirolimusapproved, investigationalPhase 1, Phase 2189653123-88-95284616, 6436030, 46835353
Synonyms:
(-)-Rapamycin
(-)-rapamycin
1fkb
1pbk
23,27-Epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine
23,27-Epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine
23,27-epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine-1,5,11,28,29
3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
53123-88-9
A422989, NSC226080
AC-722
AC1L1JH9
AC1L7MJ9
AC1L9ZMV
AY 22989
AY-22989
AY22989
Ambotz53123-88-9
Antibiotic AY 22989
BIDD:PXR0165
Bio1_000293
Bio1_000782
Bio1_001271
Bio2_000375
Bio2_000855
BiomolKI2_000084
C07909
C51H79NO13
CBiol_002007
CCRIS 9024
CHEBI:100923
CHEBI:9168
CHEMBL413
CID10213190
CID10795871
CID11949238
CID11959112
CID313006
CID478951
CID5040
CID5284616
CID5358081
CID5374464
CID5460439
CID5497196
CID5924240
CID6436030
CID6610270
CID6610346
CID6711160
CID6713081
CID9833581
CID9854379
CID9854380
CID9962926
CID9962928
D00753
DB00877
DE-109
DivK1c_006936
 
FT-0082351
HMS2089A21
HSDB 7284
KBio1_001880
KBio2_000410
KBio2_002978
KBio2_005546
KBio3_000779
KBio3_000780
KBioGR_000410
KBioSS_000410
LCP-Siro
LMPK06000003
LS-143290
MLS000028373
MS-R001
MolMap_000043
MolPort-003-959-433
NCGC00021305-05
NCI60_001851
NCIMech_000355
NSC 226080
NSC226080
Perceiva
QTL1_000069
R0395_SIAL
R0395_SIGMA
RAP
RAPA
RPM
Rapammune
Rapamune
Rapamune (TN)
Rapamycin
Rapamycin (TN)
Rapamycin C-7, analog 4
Rapamycin Immunosuppressant Drug
Rapamycin from Streptomyces hygroscopicus
S1039_Selleck
SIIA 9268A
SILA 9268A
SILA9268A
SMP1_000255
SMR000058564
Sirolimus
Sirolimus (RAPAMUNE)
Sirolimus (USAN/INN)
Sirolimus [USAN:BAN:INN]
Sirolimus, Rapamune,Rapamycin
SpecPlus_000840
UNII-W36ZG6FT64
UNM-0000358684
WY-090217
Wy 090217
heptadecahydro-9,27-dihydroxy-3-[(1R)-2-[(1S,3R,4R)-4-hydroxy
nchembio.100-comp4
nchembio.2007.42-comp2
nchembio.79-comp1
nchembio762-comp1
nchembio883-comp3
rapamycin
sirolimus
3
EverolimusapprovedPhase 1, Phase 21896159351-69-66442177
Synonyms:
(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone
(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.04,9)hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone
(1R,9S,12S,15R,16E,23S,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriacont
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-Hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-23,27-epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,27-dihydroxy-3-{(2R)-1-[(1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl]propan-2-yl}-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-3H-23,27-epoxypyrido[2,1-c][1,4]oxazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34as)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethy
07741_FLUKA
159351-69-6
40-O-(2-hydroxyethyl)-rapamycin
42-O-(2-Hydroxyethyl)rapamycin
Afinitor
CERTICAN(R)
CHEMBL1201755
Certican
D02714
DB01590
 
Everolimus
Everolimus (JAN/USAN/INN)
Everolimus [USAN]
LS-143292
MolPort-003-847-342
MolPort-003-925-588
NCGC00167512-01
NVP-RAD-001
RAD 001
RAD-001
RAD-001C
RAD001
RAD001, SDZ-RAD, Certican, Zortress, Afinitor, Everolimus
S1120_Selleck
SDZ-RAD
UNII-9HW64Q8G6G
Zortress
everolimus
4Immunosuppressive AgentsPhase 1, Phase 212770
5Anti-Infective AgentsPhase 1, Phase 221402
6Antibiotics, AntitubercularPhase 1, Phase 26972
7Antifungal AgentsPhase 1, Phase 23615
8Anti-Bacterial AgentsPhase 1, Phase 210884

Interventional clinical trials:

idNameStatusNCT IDPhase
1RAD001 and Neurocognition in PTEN Hamartoma Tumor Syndrome (PTEN)Not yet recruitingNCT02991807Phase 1, Phase 2
2Genetics, Brain Structure and Thinking Skills in AutismCompletedNCT01451983
3Natural History Study of Individuals With Autism and Germline Heterozygous PTEN MutationsRecruitingNCT02461446
4Finding Genes With NGS Techniques in Whom Mutations Cause Neurological DiseasesNot yet recruitingNCT02340871

Search NIH Clinical Center for Megalencephaly

Genetic Tests for Megalencephaly

About this section

Genetic tests related to Megalencephaly:

id Genetic test Affiliating Genes
1 Megalencephaly27

Anatomical Context for Megalencephaly

About this section

MalaCards organs/tissues related to Megalencephaly:

36
Brain, Spinal cord, Cortex, Eye, Temporal lobe

Publications for Megalencephaly

About this section

Articles related to Megalencephaly:

(show top 50)    (show all 139)
idTitleAuthorsYear
1
A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly. (28086757)
2017
2
Megalencephaly, polymicrogyria and ribbon-like band heterotopia: A new cortical malformation. (27381655)
2016
3
Persistence of megalencephaly in a subgroup of young boys with autism spectrum disorder. (27273931)
2016
4
Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant. (27773430)
2016
5
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. (27159400)
2016
6
Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-GoutiA"res syndrome. (27091087)
2016
7
Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE). (27170158)
2016
8
Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea. (28018470)
2016
9
Severe holocord syrinx in a child with megalencephaly-capillary malformation syndrome. (27035547)
2016
10
Megalencephaly-capillary malformation polymicrogyria: A review and complex pediatric case report. (27216985)
2016
11
Focal megalencephaly: intraoperative ultrasound imaging in epilepsy surgery. (26578502)
2015
12
Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia. (25523067)
2015
13
Detection of a mosaic PIK3CA mutation in dental DNA from a child with megalencephaly capillary malformation syndrome. (26351730)
2015
14
Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities. (26542245)
2015
15
MEGALENCEPHALY, POLYMICROGYRIA, POLYDACTYLY AND HYDROCEPHALUS (MPPH) SYNDROME: A NEW CASE WITH OCCIPITAL ENCEPHALOCELE AND CLEFT PALATE. (26852507)
2015
16
Three cases of right frontal megalencephaly: Clinical characteristics and long-term outcome. (26415548)
2015
17
A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy. (26153217)
2015
18
HemA+megalencephaly assocA+ated wA+th fetal cardA+ac faA+lure and hydrops. (25710787)
2015
19
PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia. (25722288)
2015
20
Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation in AKT3. (25416470)
2015
21
Megalencephaly and Macrocephaly. (26060907)
2015
22
Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP) - pure coincidence? (24939587)
2014
23
Megalencephaly and hemimegalencephaly: breakthroughs in molecular etiology. (24888963)
2014
24
Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations. (24497998)
2014
25
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. (24705253)
2014
26
Unusual presentation of Sturge-Weber syndrome: Progressive megalencephaly with bilateral cutaneous and cortical involvement. (25024575)
2014
27
Abnormalities in the zinc-metalloprotease-BDNF axis may contribute to megalencephaly and cortical hyperconnectivity in young autism spectrum disorder patients. (25182223)
2014
28
Bilateral Periventricular Nodular Heterotopia With Megalencephaly: A Case Report. (23439715)
2013
29
Four-year follow-up of megalencephaly, polymicrogyria, postaxial polydactyly and hydrocephalus (MPPH) syndrome. (24092603)
2013
30
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome: a case report. (22859694)
2013
31
AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH. (23745724)
2013
32
Syndrome of megalencephaly, mega corpus callosum, and complete lack of motor development: exploring the phenotype. (24326961)
2013
33
Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly. (23687350)
2013
34
Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP. (23592320)
2013
35
Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome. (23754335)
2013
36
The "megalencephaly-capillary malformation" (MCAP) syndrome: the nomenclature of a highly recognizable multiple congenital anomaly syndrome. (23798482)
2013
37
Abnormal gyration of the temporal lobe and megalencephaly are typical features of thanatophoric dysplasia and can be visualized prenatally by ultrasound. (22374812)
2012
38
Genetics: mutations in mTOR pathway linked to megalencephaly syndromes. (22907262)
2012
39
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
40
Lack of Pur-alpha alters postnatal brain development and causes megalencephaly. (22010047)
2012
41
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. (22729224)
2012
42
Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus. (20503325)
2010
43
Megalencephaly, mega corpus callosum, and complete lack of motor development: delineation of a rare syndrome. (20803648)
2010
44
Congenital cytomegalovirus infection resembling cystic leukoencephalopathy without megalencephaly. (20434699)
2010
45
Clinical and imaging characteristics of localized megalencephaly: a retrospective comparison of diffuse hemimegalencephaly and multilobar cortical dysplasia. (19672585)
2009
46
Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes. (19353582)
2009
47
Syndrome of megalencephaly, polydactyly, and polymicrogyria lacking frank hydrocephalus, with associated MR imaging findings. (19369601)
2009
48
Cystic leukoencephalopathy without megalencephaly. (18545798)
2008
49
Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome: a new case with syndactyly. (18474936)
2008
50
A patient with the syndrome of megalencephaly, mega corpus callosum and complete lack of motor development. (18076119)
2008

Variations for Megalencephaly

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Expression for genes affiliated with Megalencephaly

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Search GEO for disease gene expression data for Megalencephaly.

Pathways for genes affiliated with Megalencephaly

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Pathways related to Megalencephaly according to GeneCards Suite gene sharing:

(show top 50)    (show all 54)
idSuper pathwaysScoreTop Affiliating Genes
110.0PIK3CA, PIK3R2
29.8AKT3, PIK3CA, PIK3R2
3
Show member pathways
9.8AKT3, PIK3CA, PIK3R2
49.8AKT3, PIK3CA, PIK3R2
59.8AKT3, PIK3CA, PIK3R2
69.8AKT3, PIK3CA, PIK3R2
79.6AKT3, CCND2, PIK3CA, PIK3R2
8
Show member pathways
9.6CCND2, MTOR, PIK3CA
99.6MTOR, PIK3CA, PIK3R2
10
Show member pathways
9.6MTOR, PIK3CA, PIK3R2
119.6MTOR, PIK3CA, PIK3R2
129.6AKT3, MTOR, PIK3R2
13
Show member pathways
9.5AKT3, PIK3CA, PIK3R2, PTEN
149.5AKT3, PIK3CA, PIK3R2, PTEN
159.5AKT3, PIK3CA, PIK3R2, PTEN
169.4AKT3, PIK3CA, PIK3R2, STK11
179.4AKT3, MTOR, STK11
18
Show member pathways
9.4AKT3, MTOR, PIK3CA, PIK3R2
19
Show member pathways
9.4AKT3, MTOR, PIK3CA, PIK3R2
209.4AKT3, MTOR, PIK3CA, PIK3R2
21
Show member pathways
9.4AKT3, MTOR, PIK3CA, PIK3R2
22
Show member pathways
9.4AKT3, MTOR, PIK3CA, PIK3R2
239.4AKT3, MTOR, PIK3CA, PIK3R2
249.4AKT3, MTOR, PIK3CA, PIK3R2
25
Show member pathways
9.3AKT3, CCND2, PIK3CA, PIK3R2, PTEN
269.3PIK3CA, PTEN, STK11, STRADA
27
Show member pathways
9.3AKT3, MTOR, PIK3CA, PTEN
289.2EIF2B5, MTOR, PIK3CA, PIK3R2
29
Show member pathways
9.2AKT3, CCND2, MTOR, PIK3CA, PIK3R2
309.1CCND2, MTOR, PIK3CA, PIK3R2, PTEN
31
Show member pathways
9.1AKT3, MTOR, PIK3CA, PIK3R2, PTEN
329.1AKT3, MTOR, PIK3CA, PIK3R2, PTEN
33
Show member pathways
9.1AKT3, MTOR, PIK3CA, PIK3R2, PTEN
349.1AKT3, MTOR, PIK3CA, PIK3R2, PTEN
35
Show member pathways
9.1AKT3, MTOR, PIK3CA, PIK3R2, PTEN
369.0AKT3, MTOR, PTEN, TSC1
37
Show member pathways
8.9AKT3, CCND2, PIK3CA, PIK3R2, PTEN, STK11
38
Show member pathways
8.8AKT3, MTOR, PIK3CA, PIK3R2, TSC1
398.8MTOR, STK11, STRADA, TSC1
408.8MTOR, PIK3CA, PIK3R2, PTEN, TSC1
418.8AKT3, PIK3CA, PIK3R2, PTEN, TBC1D7, TSC1
428.8AKT3, MTOR, PIK3R2, PTEN, TSC1
43
Show member pathways
8.7AKT3, EIF2B5, MTOR, PIK3CA, PIK3R2, PTEN
44
Show member pathways
8.6AKT3, MTOR, PTEN, STK11, TSC1
458.6MTOR, PIK3R2, PTEN, STK11, TSC1
46
Show member pathways
8.6AKT3, CCND2, MTOR, PIK3R2, PTEN, TSC1
47
Show member pathways
8.4AKT3, MTOR, PIK3CA, PIK3R2, STK11, TSC1
48
Show member pathways
8.4MTOR, PIK3CA, PIK3R2, STK11, STRADA, TSC1
49
Show member pathways
8.4AKT3, MTOR, PIK3R2, STK11, STRADA, TSC1
50
Show member pathways
8.4AKT3, CCND2, MTOR, PTEN, STK11, TSC1

GO Terms for genes affiliated with Megalencephaly

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

idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol 3-kinase complexGO:00059429.6MTOR, PIK3CA, PIK3R2
2neuronal cell bodyGO:00430258.2CCK, MBP, MTOR, S100B, SST

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol biosynthetic processGO:000666110.5PIK3CA, PIK3R2, PTEN
2negative regulation of cilium assemblyGO:190201810.4TBC1D7, TBC1D7-LOC100130357
3activation of protein kinase activityGO:003214710.3PIK3CA, STK11, STRADA
4response to growth factorGO:007084810.3TBC1D7, TBC1D7-LOC100130357
5regulation of protein kinase B signalingGO:005189610.2MTOR, STK11
6negative regulation of macroautophagyGO:001624210.2MTOR, TSC1
7astrocyte differentiationGO:004870810.0EIF2B5, S100B
8phosphatidylinositol-mediated signalingGO:004801510.0MTOR, PIK3CA, PIK3R2, PTEN
9positive regulation of peptidyl-tyrosine phosphorylationGO:005073110.0CCK, MTOR, STK11
10response to nutrientGO:000758410.0MTOR, PTEN, SST
11negative regulation of cell sizeGO:00457929.9MTOR, PTEN, TSC1
12activation of GTPase activityGO:00906309.9TBC1D7, TBC1D7-LOC100130357, TSC1
13negative regulation of TOR signalingGO:00320079.9TBC1D7, TBC1D7-LOC100130357, TSC1
14myelinationGO:00425529.7EIF2B5, MBP, TSC1
15cellular response to hypoxiaGO:00714569.6MTOR, PTEN, S100B
16cell cycle arrestGO:00070509.6MTOR, STK11, STRADA, TSC1
17protein phosphorylationGO:00064689.5AKT3, MTOR, PIK3CA, STK11, STRADA
18T cell receptor signaling pathwayGO:00508529.3PIK3CA, PIK3R2, PTEN, STK11

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

idNameGO IDScoreTop Affiliating Genes
1protein kinase activator activityGO:00302959.6PIK3CA, STK11, STRADA
2protein bindingGO:00055154.9AKT3, CCK, CCND2, EIF2B5, MBP, MLC1

Sources for Megalencephaly

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet