MCID: MGL013
MIFTS: 51

Megalencephaly malady

Categories: Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Megalencephaly

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Sources:
26GTR, 29ICD10, 30ICD10 via Orphanet, 48NINDS, 53Orphanet, 63The Human Phenotype Ontology, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Megalencephaly:

Name: Megalencephaly 48 53 26
 
Macroencephaly 53

Characteristics:


Classifications:



External Ids:

Orphanet53 ORPHA2477
ICD10 via Orphanet30 Q04.5
UMLS via Orphanet68 C0221355, C2720434
ICD1029 Q04.5

Summaries for Megalencephaly

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NINDS:48 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 Carbohydrate digestion and absorption and VEGF Pathway (Tocris). Affiliated tissues include brain, spinal cord and cortex, and related mouse phenotypes are neoplasm and endocrine/exocrine gland.

Wikipedia:70 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 for Megalencephaly

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Human phenotypes related to Megalencephaly:

 63 53 (show all 20)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the fontanelles or cranial sutures63 53 hallmark (90%) Very frequent (99-80%) HP:0000235
2 macrocephaly63 53 hallmark (90%) Very frequent (99-80%) HP:0000256
3 dolichocephaly63 53 hallmark (90%) Very frequent (99-80%) HP:0000268
4 prominent occiput63 53 hallmark (90%) Very frequent (99-80%) HP:0000269
5 pointed chin63 53 hallmark (90%) Very frequent (99-80%) HP:0000307
6 abnormality of the nose63 hallmark (90%) HP:0000366
7 short neck63 53 hallmark (90%) Very frequent (99-80%) HP:0000470
8 deeply set eye63 53 hallmark (90%) Very frequent (99-80%) HP:0000490
9 truncal obesity63 53 hallmark (90%) Very frequent (99-80%) HP:0001956
10 frontal bossing63 53 hallmark (90%) Very frequent (99-80%) HP:0002007
11 delayed skeletal maturation63 53 hallmark (90%) Very frequent (99-80%) HP:0002750
12 cognitive impairment63 hallmark (90%) HP:0100543
13 long penis63 53 typical (50%) Frequent (79-30%) HP:0000040
14 macroorchidism63 53 typical (50%) Frequent (79-30%) HP:0000053
15 atria septal defect63 typical (50%) HP:0001631
16 genu valgum63 53 typical (50%) Frequent (79-30%) HP:0002857
17 intellectual disability63 53 Very frequent (99-80%) HP:0001249
18 megalencephaly63 HP:0001355
19 wide nasal bridge53 Very frequent (99-80%)
20 defect in the atrial septum53 Frequent (79-30%)

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

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Genetic tests related to Megalencephaly:

id Genetic test Affiliating Genes
1 Megalencephaly26

Anatomical Context for Megalencephaly

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MalaCards organs/tissues related to Megalencephaly:

35
Brain, Spinal cord, Cortex, Eye, Temporal lobe

Animal Models for Megalencephaly or affiliated genes

About this section

MGI Mouse Phenotypes related to Megalencephaly:

40
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

Publications for Megalencephaly

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Articles related to Megalencephaly:

(show top 50)    (show all 139)
idTitleAuthorsYear
1
Megalencephaly, polymicrogyria and ribbon-like band heterotopia: A new cortical malformation. (27381655)
2016
2
Persistence of megalencephaly in a subgroup of young boys with autism spectrum disorder. (27273931)
2016
3
Focal megalencephaly: intraoperative ultrasound imaging in epilepsy surgery. (26578502)
2015
4
Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia. (25523067)
2015
5
Detection of a mosaic PIK3CA mutation in dental DNA from a child with megalencephaly capillary malformation syndrome. (26351730)
2015
6
Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP) - pure coincidence? (24939587)
2014
7
Bilateral Periventricular Nodular Heterotopia With Megalencephaly: A Case Report. (23439715)
2013
8
Four-year follow-up of megalencephaly, polymicrogyria, postaxial polydactyly and hydrocephalus (MPPH) syndrome. (24092603)
2013
9
Abnormal gyration of the temporal lobe and megalencephaly are typical features of thanatophoric dysplasia and can be visualized prenatally by ultrasound. (22374812)
2012
10
Genetics: mutations in mTOR pathway linked to megalencephaly syndromes. (22907262)
2012
11
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
12
Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus. (20503325)
2010
13
Progressive megalencephaly due to specific EIF2Bepsilon mutations in two unrelated families. (17646634)
2007
14
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case. (18058629)
2007
15
A new case of megalencephaly and perisylvian polymicrogyria with post-axial polydactyly and hydrocephalus: MPPH syndrome. (16807158)
2006
16
MRI, volumetry, 1H spectroscopy, and cerebropetal blood flowmetry in childhood idiopathic anatomic megalencephaly. (16786580)
2006
17
Familial megalencephaly with dilated Virchow-Robin spaces in magnetic resonance imaging: an autosomal recessive trait? (15602091)
2005
18
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures. (15627943)
2004
19
Effect of topiramate on enlargement of head in Canavan disease: a new option for treatment of megalencephaly. (15074377)
2004
20
Widespread capillary malformation associated with global developmental delay and megalencephaly. (15194954)
2004
21
Unilateral megalencephaly associated with contralateral neuronal migration defect. (10901932)
1999
22
Slowly progressive cystic leukoencephalopathy with megalencephaly in a Japanese boy. (9661971)
1998
23
White matter attenuation and megalencephaly. (9279169)
1997
24
Atypical dopa responsive parkinsonism in a patient with megalencephaly, midbrain Lewy body disease, and some pathological features of Hallervorden-Spatz disease. (8937352)
1996
25
Unilateral megalencephaly in association with Dandy-Walker complex. (7922722)
1994
26
Prenatal diagnosis of unilateral megalencephaly by real-time ultrasonography. (8178875)
1994
27
Human cerebral cortical cell lines from patients with unilateral megalencephaly and Rasmussen's encephalitis. (7700510)
1994
28
Macrocrania and megalencephaly in the neonate. (8511423)
1993
29
Sonographic recognition of unilateral megalencephaly. (1404589)
1992
30
Primitive megalencephaly in children: natural history, medium term prognosis with special reference to external hydrocephalus. (2347345)
1990
31
Megalencephaly secondary to occlusion and stenosis of sigmoid sinuses. (2310437)
1990
32
Unilateral megalencephaly: correlation of MR imaging and pathologic characteristics. (1693466)
1990
33
Megalencephaly in the epileptic chicken: a morphometric study of the adult brain. (2087267)
1990
34
Unilateral megalencephaly associated with neonatal high output cardiac failure. (2141545)
1990
35
Megalencephaly in the neonatal period as the initial manifestation of glutaric aciduria type I. (2627209)
1989
36
Megalencephaly in sudden infant death syndrome. (2918209)
1989
37
Language and motor findings in benign megalencephaly. (2762071)
1989
38
Congenital hemicerebral arterial ectasia complicating unilateral megalencephaly. (3580746)
1987
39
Bannayan syndrome--generalized lipomatosis associated with megalencephaly and macrodactyly. (3705960)
1986
40
White matter attenuation and megalencephaly. (4073939)
1985
41
Children with large heads: a practical approach to diagnosis in 557 children, with special reference to 109 children with megalencephaly. (7274594)
1981
42
Unilateral megalencephaly, cerebral cortical dysplasia, neuronal hypertrophy, and heterotopia: cytomorphometric, fluorometric cytochemical, and biochemical analyses. (419942)
1979
43
Megalencephaly and chromosomal anomaly. (696244)
1978
44
Familial megalencephaly or hydrocephalus? (4855950)
1974
45
Megalencephaly in children. Clinical syndromes, genetic patterns, and differential diagnosis from other causes of megalocephaly. (4673338)
1972
46
Unilateral megalencephaly with nerve cell hypertrophy. An anatomical and quantitative histochemical study. (5699812)
1968
47
A CASE OF UNILATERAL MEGALENCEPHALY. (14248476)
1964
48
MEGALENCEPHALY; A CLINICAL STUDY WITH CHROMOSOMAL ANALYSIS. (14168210)
1964
49
Megalencephaly associated with hyaline pan-neuropathy. (13081879)
1953
50
Megalencephaly. (21610769)
1934

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 all 45)
idSuper pathwaysScoreTop Affiliating Genes
19.8AKT3, PIK3CA, PIK3R2
2
Show member pathways
9.8AKT3, PIK3CA, PIK3R2
39.6AKT3, CCND2, PIK3CA, PIK3R2
4
Show member pathways
9.6CCND2, MTOR, PIK3CA
59.6MTOR, PIK3CA, PIK3R2
69.6MTOR, PIK3CA, PIK3R2
79.5AKT3, PIK3CA, PIK3R2, PTEN
89.5AKT3, PIK3CA, PIK3R2, PTEN
9
Show member pathways
9.5AKT3, PIK3CA, PIK3R2, PTEN
109.4AKT3, PIK3CA, PIK3R2, STK11
119.4AKT3, MTOR, STK11
129.4AKT3, MTOR, PIK3CA, PIK3R2
139.4AKT3, MTOR, PIK3CA, PIK3R2
14
Show member pathways
9.4AKT3, MTOR, PIK3CA, PIK3R2
159.4AKT3, MTOR, PIK3CA, PIK3R2
16
Show member pathways
9.4AKT3, MTOR, PIK3CA, PIK3R2
17
Show member pathways
9.4AKT3, MTOR, PIK3CA, PIK3R2
189.3PIK3CA, PTEN, STK11, STRADA
19
Show member pathways
9.3AKT3, MTOR, PIK3CA, PTEN
209.2EIF2B5, MTOR, PIK3CA, PIK3R2
21
Show member pathways
9.2AKT3, CCND2, MTOR, PIK3CA, PIK3R2
229.1CCND2, MTOR, PIK3CA, PIK3R2, PTEN
239.1AKT3, MTOR, PIK3CA, PIK3R2, PTEN
249.1AKT3, MTOR, PIK3CA, PIK3R2, PTEN
25
Show member pathways
9.1AKT3, MTOR, PIK3CA, PIK3R2, PTEN
26
Show member pathways
9.1AKT3, MTOR, PIK3CA, PIK3R2, PTEN
27
Show member pathways
9.1AKT3, MTOR, PIK3CA, PIK3R2, PTEN
289.0AKT3, MTOR, PTEN, TSC1
29
Show member pathways
8.9AKT3, CCND2, PIK3CA, PIK3R2, PTEN, STK11
30
Show member pathways
8.8AKT3, MTOR, PIK3CA, PIK3R2, TSC1
318.8MTOR, STK11, STRADA, TSC1
328.8MTOR, PIK3CA, PIK3R2, PTEN, TSC1
338.8AKT3, PIK3CA, PIK3R2, PTEN, TBC1D7, TSC1
348.8AKT3, MTOR, PIK3R2, PTEN, TSC1
35
Show member pathways
8.7AKT3, EIF2B5, MTOR, PIK3CA, PIK3R2, PTEN
368.6MTOR, PIK3R2, PTEN, STK11, TSC1
37
Show member pathways
8.6AKT3, CCND2, MTOR, PIK3R2, PTEN, TSC1
38
Show member pathways
8.4AKT3, MTOR, PIK3CA, PIK3R2, STK11, TSC1
39
Show member pathways
8.4MTOR, PIK3CA, PIK3R2, STK11, STRADA, TSC1
40
Show member pathways
8.4AKT3, MTOR, PIK3R2, STK11, STRADA, TSC1
41
Show member pathways
8.4AKT3, CCND2, MTOR, PTEN, STK11, TSC1
42
Show member pathways
8.4AKT3, CCND2, MTOR, PIK3CA, PIK3R2, PTEN
43
Show member pathways
8.4AKT3, CCND2, MTOR, PIK3CA, PIK3R2, PTEN
447.9AKT3, CCND2, MTOR, PIK3CA, PIK3R2, PTEN
45
Show member pathways
7.5AKT3, EIF2B5, MTOR, PIK3CA, PIK3R2, PTEN

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:000594210.1MTOR, PIK3CA, PIK3R2
2neuronal cell bodyGO:00430257.9CCK, 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:000666110.3PIK3CA, PIK3R2, PTEN
2response to growth factorGO:007084810.3TBC1D7, TBC1D7-LOC100130357
3negative regulation of cilium assemblyGO:190201810.2TBC1D7, TBC1D7-LOC100130357
4regulation of protein kinase B signalingGO:005189610.2MTOR, STK11
5negative regulation of macroautophagyGO:001624210.0MTOR, TSC1
6astrocyte differentiationGO:00487089.9EIF2B5, S100B
7response to nutrientGO:00075849.8MTOR, PTEN, SST
8phosphatidylinositol-mediated signalingGO:00480159.8MTOR, PIK3CA, PIK3R2, PTEN
9T cell receptor signaling pathwayGO:00508529.7PIK3CA, PIK3R2, PTEN, STK11
10activation of protein kinase activityGO:00321479.6PIK3CA, STK11, STRADA
11positive regulation of peptidyl-tyrosine phosphorylationGO:00507319.5CCK, MTOR, STK11
12negative regulation of cell sizeGO:00457929.5MTOR, PTEN, TSC1
13negative regulation of TOR signalingGO:00320079.4TBC1D7, TBC1D7-LOC100130357, TSC1
14myelinationGO:00425529.2EIF2B5, MBP, TSC1
15activation of GTPase activityGO:00906309.1TBC1D7, TBC1D7-LOC100130357, TSC1
16protein phosphorylationGO:00064688.9AKT3, MTOR, PIK3CA, STK11, STRADA
17cell cycle arrestGO:00070508.9MTOR, STK11, STRADA, TSC1
18cellular response to hypoxiaGO:00714568.6MTOR, PTEN, S100B

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

idNameGO IDScoreTop Affiliating Genes
1protein kinase activator activityGO:003029510.2PIK3CA, STK11, STRADA
2protein bindingGO:00055154.5AKT3, CCK, CCND2, EIF2B5, MBP, MLC1

Sources for Megalencephaly

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet