MCID: MGL013
MIFTS: 44

Megalencephaly malady

Neuronal diseases, Fetal diseases, Rare diseases categories

Aliases & Classifications for Megalencephaly

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Sources:
51Orphanet, 46NINDS, 66UMLS via Orphanet, 28ICD10 via Orphanet, 27ICD10
See all sources

Aliases & Descriptions for Megalencephaly:

Name: Megalencephaly 46 51
 
Macrencephaly 51


Classifications:



External Ids:

Orphanet51 2477
UMLS via Orphanet66 C0221355, C2720434
ICD10 via Orphanet28 Q04.5
ICD1027 Q04.5

Summaries for Megalencephaly

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NINDS:46 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 macrencephaly, is related to megalencephaly-capillary malformation-polymicrogyria syndrome, somatic and hemimegalencephaly, 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 Nephrin interactions. Affiliated tissues include brain, spinal cord and cortex, and related mouse phenotypes are tumorigenesis and endocrine/exocrine gland.

Wikipedia:68 Megalencephaly (or Macrencephaly abbreviated MEG) is a growth development disorder in which the brain is... 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 80)
idRelated DiseaseScoreTop Affiliating Genes
1megalencephaly-capillary malformation-polymicrogyria syndrome, somatic10.7
2hemimegalencephaly10.6
3hydrocephalus10.6
4megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 110.6
5polymicrogyria10.5
6polydactyly10.5
7megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 210.5
8leukoencephalopathy, cystic, without megalencephaly10.4
9megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 310.4
10macrocephaly/megalencephaly syndrome, autosomal recessive10.4
11megalencephalic leukoencephalopathy with subcortical cysts10.4
12megalencephaly, polymicrogyria, and hydrocephalus syndrome10.4
13polyhydramnios, megalencephaly, and symptomatic epilepsy10.3
14alexander disease10.3
15focal alopecia congenital megalencephaly10.3
16isolated megalencephaly10.3
17primary malignant melanoma of the cervix10.3PIK3CA, PTEN
18hemiplegic migraine10.2AKT3, PIK3CA
19visual verbal agnosia10.2PIK3CA, PTEN
20achondroplasia10.2
21tuberous sclerosis10.2
22neuronitis10.2
23cerebritis10.2
24megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, somatic10.2
25megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus10.2
26vulvovaginal gingival syndrome10.2AKT3, CCND2, PIK3R2
27oligodontia-colorectal cancer syndrome10.2STK11, STRADA
28autosomal dominant charcot-marie-tooth disease type 2f10.2CCND2, PIK3CA, PTEN
29cowden syndrome 610.2AKT3, PIK3CA, PTEN
30hypersomnia10.1PTEN, S100B
31duodenal obstruction10.1CCK, SST
32cowden syndrome 110.1
33periventricular nodular heterotopia10.1
34leukodystrophy10.1
35intellectual disability10.1
36ataxia10.1
37childhood kidney angiomyolipoma10.1CCK, SST
38pituitary dermoid and epidermoid cysts10.1S100B, SST
39thyroid cancer, nonmedullary, 210.1PIK3CA, PTEN, SST
40anaplastic ganglioglioma10.1PTEN, S100B
41micropapillary variant infiltrating bladder urothelial carcinoma10.1CCK, SST
42hypoplastic left heart syndrome10.1AKT3, CCND2, PIK3R2, PTEN
43scrotum basal cell carcinoma10.0PIK3CA, S100B
44bile duct cystadenocarcinoma10.0CCK, SST
45sudden infant death syndrome10.0
46saddan10.0
47apert syndrome10.0
48ataxia-telangiectasia10.0
49megalencephalic leukoencephalopathy with subcortical cysts 2a10.0
50megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation10.0

Graphical network of the top 20 diseases related to Megalencephaly:



Diseases related to megalencephaly

Symptoms for Megalencephaly

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Symptoms:

 51 (show all 17)
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • dolichocephaly/scaphocephaly
  • prominent occiput/occipital bossing
  • large fontanelle/delayed fontanelle closure
  • frontal bossing/prominent forehead
  • deepset eyes/enophthalmos
  • pointed chin
  • broad nose/nasal bridge
  • short neck
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • delayed bone age
  • autosomal dominant inheritance
  • truncal obesity
  • genu valgum
  • atrial septal defect/interauricular communication
  • macropenis/megapenis/large penis
  • macroorchidism/macrotestes

HPO human phenotypes related to Megalencephaly:

(show all 19)
id Description Frequency HPO Source Accession
1 abnormality of the fontanelles or cranial sutures hallmark (90%) HP:0000235
2 macrocephaly hallmark (90%) HP:0000256
3 dolichocephaly hallmark (90%) HP:0000268
4 prominent occiput hallmark (90%) HP:0000269
5 pointed chin hallmark (90%) HP:0000307
6 abnormality of the nose hallmark (90%) HP:0000366
7 short neck hallmark (90%) HP:0000470
8 deeply set eye hallmark (90%) HP:0000490
9 truncal obesity hallmark (90%) HP:0001956
10 frontal bossing hallmark (90%) HP:0002007
11 delayed skeletal maturation hallmark (90%) HP:0002750
12 cognitive impairment hallmark (90%) HP:0100543
13 long penis typical (50%) HP:0000040
14 macroorchidism typical (50%) HP:0000053
15 atria septal defect typical (50%) HP:0001631
16 genu valgum typical (50%) HP:0002857
17 autosomal dominant inheritance HP:0000006
18 intellectual disability HP:0001249
19 megalencephaly HP:0001355

Drugs & Therapeutics for Megalencephaly

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Genetics, Brain Structure and Thinking Skills in AutismCompletedNCT01451983
2Natural History Study of Individuals With Autism and Germline Heterozygous PTEN MutationsRecruitingNCT02461446
3Finding 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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Anatomical Context for Megalencephaly

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MalaCards organs/tissues related to Megalencephaly:

33
Brain, Spinal cord, Cortex, Eye, Bone, Temporal lobe

Animal Models for Megalencephaly or affiliated genes

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MGI Mouse Phenotypes related to Megalencephaly:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.6AKT3, PIK3CA, PIK3R2, PTEN, STK11, TSC1
2MP:00053797.5AKT3, CCK, CCND2, PIK3CA, PTEN, STK11
3MP:00053897.5AKT3, CCND2, MBP, PIK3CA, PTEN, STK11
4MP:00036316.7AKT3, CCK, CCND2, EIF2B5, MBP, PIK3CA
5MP:00053866.5AKT3, CCND2, EIF2B5, MBP, PIK3CA, PTEN
6MP:00053766.2AKT3, CCK, CCND2, EIF2B5, MBP, PIK3CA

Publications for Megalencephaly

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Articles related to Megalencephaly:

(show top 50)    (show all 127)
idTitleAuthorsYear
1
Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia. (25523067)
2015
2
Detection of a mosaic PIK3CA mutation in dental DNA from a child with megalencephaly capillary malformation syndrome. (26351730)
2015
3
Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP) - pure coincidence? (24939587)
2014
4
Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations. (24497998)
2014
5
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. (24705253)
2014
6
AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH. (23745724)
2013
7
Bilateral Periventricular Nodular Heterotopia With Megalencephaly: A Case Report. (23439715)
2013
8
Syndrome of megalencephaly, mega corpus callosum, and complete lack of motor development: exploring the phenotype. (24326961)
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
Clinical and imaging characteristics of localized megalencephaly: a retrospective comparison of diffuse hemimegalencephaly and multilobar cortical dysplasia. (19672585)
2009
13
Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes. (19353582)
2009
14
Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome: a new case with syndactyly. (18474936)
2008
15
A patient with the syndrome of megalencephaly, mega corpus callosum and complete lack of motor development. (18076119)
2008
16
Idiopathic megalencephaly-possible cause and treatment opportunities: from patient to lab. (18242108)
2008
17
Progressive megalencephaly due to specific EIF2Bepsilon mutations in two unrelated families. (17646634)
2007
18
Magnetic resonance imaging and proton magnetic resonance spectroscopy of megalencephaly and dilated Virchow-Robin spaces. (16376276)
2006
19
Familial megalencephaly with dilated Virchow-Robin spaces in magnetic resonance imaging: an autosomal recessive trait? (15602091)
2005
20
Impact of early hemispherotomy in a case of Ohtahara syndrome with left parieto-occipital megalencephaly. (16046152)
2005
21
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures. (15627943)
2004
22
Effect of topiramate on enlargement of head in Canavan disease: a new option for treatment of megalencephaly. (15074377)
2004
23
Megalencephaly and leukodystrophy with mild clinical course: a report on 12 new cases. (9628190)
1998
24
Megalencephaly, hydrocephalus and cortical dysplasia in severe dwarfism mimicking leprechaunism. (9560023)
1998
25
Hemimegalencephaly and focal megalencephaly in tuberous sclerosis complex. (9874550)
1998
26
White matter attenuation and megalencephaly. (9279169)
1997
27
Leukoencephalopathy, megalencephaly, and mild clinical course. A recently individualized familial leukodystrophy. Report on five new cases. (9120220)
1996
28
Unilateral megalencephaly in association with Dandy-Walker complex. (7922722)
1994
29
Prenatal diagnosis of unilateral megalencephaly by real-time ultrasonography. (8178875)
1994
30
Autism and megalencephaly. (8098126)
1993
31
Macrocrania and megalencephaly in the neonate. (8511423)
1993
32
Dominantly inherited megalencephaly, muscle weakness, and myoliposis: a carnitine-deficient myopathy within the spectrum of the Ruvalcaba-Myhre-Smith syndrome. (8320628)
1993
33
Primitive megalencephaly in children: natural history, medium term prognosis with special reference to external hydrocephalus. (2347345)
1990
34
Megalencephaly secondary to occlusion and stenosis of sigmoid sinuses. (2310437)
1990
35
Unilateral megalencephaly: correlation of MR imaging and pathologic characteristics. (1693466)
1990
36
Megalencephaly in the epileptic chicken: a morphometric study of the adult brain. (2087267)
1990
37
Optic disc drusen and primary megalencephaly in children. (2709281)
1989
38
Megalencephaly in the neonatal period as the initial manifestation of glutaric aciduria type I. (2627209)
1989
39
Megalencephaly due to impaired cerebral venous return in a Sturge-Weber variant syndrome. (3598114)
1986
40
White matter attenuation and megalencephaly. (4073939)
1985
41
Megalencephaly with formation of Rosenthal fibers in symmetric subependymal gliomatous proliferations: clinicopathologic report. (6839573)
1983
42
Children with large heads: a practical approach to diagnosis in 557 children, with special reference to 109 children with megalencephaly. (7274594)
1981
43
Megalencephaly and chromosomal anomaly. (696244)
1978
44
Unilateral megalencephaly: hamartoma or neoplasm? (1169702)
1975
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. (5871502)
1964
49
Megalencephaly. (19990992)
1937
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 46)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0PIK3CA, PIK3R2
210.0PIK3CA, PIK3R2
3
Show member pathways
9.7AKT3, PIK3CA, PIK3R2
49.7AKT3, PIK3CA, PIK3R2
59.7AKT3, PIK3CA, PIK3R2
6
VEGF Pathway (Tocris)
Show member pathways
9.7AKT3, PIK3CA, PIK3R2
79.7AKT3, PIK3CA, PIK3R2
8
Show member pathways
9.7AKT3, PIK3CA, PIK3R2
99.7AKT3, PIK3CA, PIK3R2
109.7AKT3, PIK3CA, PIK3R2
119.7AKT3, PIK3CA, PIK3R2
129.7AKT3, PIK3CA, PIK3R2
13
Show member pathways
9.7AKT3, PIK3CA, PIK3R2
149.7AKT3, PIK3CA, PIK3R2
15
Show member pathways
9.7PIK3CA, PIK3R2, PTEN
169.5AKT3, CCND2, PIK3CA, PIK3R2
17
Show member pathways
9.5AKT3, CCND2, PIK3CA, PIK3R2
18
Show member pathways
9.5AKT3, CCND2, PIK3CA, PIK3R2
199.5EIF2B5, PIK3CA, PIK3R2
209.4CCND2, PIK3CA, PIK3R2, PTEN
21
B cell receptor signaling pathway (KEGG)
Show member pathways
9.4CCND2, PIK3CA, PIK3R2, PTEN
22
Show member pathways
9.4AKT3, PIK3CA, PIK3R2, PTEN
239.4AKT3, PIK3CA, PIK3R2, PTEN
24
Show member pathways
9.4AKT3, PIK3CA, PIK3R2, PTEN
259.4AKT3, PIK3CA, PIK3R2, PTEN
269.4AKT3, PIK3CA, PIK3R2, PTEN
27
VEGF Pathway (Qiagen)
Show member pathways
9.3AKT3, PIK3CA, PIK3R2, PTEN
289.3AKT3, PIK3CA, PIK3R2, STK11
299.2PIK3CA, PTEN, STK11, STRADA
30
Show member pathways
9.2AKT3, CCND2, PIK3CA, PIK3R2, PTEN
31
Show member pathways
9.2AKT3, CCND2, PIK3CA, PIK3R2, PTEN
328.9STK11, STRADA, TSC1
338.9AKT3, PIK3CA, PIK3R2, TSC1
348.8PIK3CA, PIK3R2, PTEN, TSC1
358.8AKT3, PIK3R2, PTEN, TSC1
368.8AKT3, PIK3R2, PTEN, TSC1
37
Show member pathways
8.7AKT3, CCND2, PIK3CA, PIK3R2, PTEN, STK11
388.6PIK3R2, PTEN, STK11, TSC1
39
Show member pathways
8.4PIK3CA, PIK3R2, STK11, STRADA, TSC1
40
Show member pathways
8.4AKT3, PIK3R2, STK11, STRADA, TSC1
41
Show member pathways
8.4AKT3, CCND2, PIK3CA, PIK3R2, PTEN, TSC1
42
Show member pathways
8.4AKT3, CCND2, PIK3CA, PIK3R2, PTEN, TSC1
438.3AKT3, PIK3CA, PIK3R2, PTEN, TBC1D7, TSC1
44
Show member pathways
8.2AKT3, PIK3CA, PIK3R2, STK11, STRADA, TSC1
457.9AKT3, CCND2, PIK3CA, PIK3R2, PTEN, STK11
46
Show member pathways
7.4AKT3, EIF2B5, PIK3CA, PIK3R2, PTEN, STK11

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:000594210.4PIK3CA, PIK3R2
2neuronal cell bodyGO:00430258.5CCK, MBP, S100B, SST

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol-3-phosphate biosynthetic processGO:003609210.5PIK3CA, PIK3R2
2astrocyte differentiationGO:004870810.0EIF2B5, S100B
3phosphatidylinositol biosynthetic processGO:000666110.0PIK3CA, PIK3R2, PTEN
4activation of protein kinase activityGO:00321479.9PIK3CA, STK11, STRADA
5negative regulation of cell sizeGO:00457929.8PTEN, TSC1
6phosphatidylinositol-mediated signalingGO:00480159.8PIK3CA, PIK3R2, PTEN
7T cell receptor signaling pathwayGO:00508529.4PIK3CA, PIK3R2, PTEN, STK11
8axonogenesisGO:00074099.3CCK, S100B, STK11
9protein heterooligomerizationGO:00512919.2STK11, STRADA, TSC1
10central nervous system developmentGO:00074179.0MBP, PTEN, S100B
11myelinationGO:00425528.8EIF2B5, MBP, TSC1
12insulin receptor signaling pathwayGO:00082868.1PIK3CA, PIK3R2, STK11, STRADA, TSC1

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

idNameGO IDScoreTop Affiliating Genes
11-phosphatidylinositol-3-kinase activityGO:001630310.4PIK3CA, PIK3R2
2protein kinase activator activityGO:00302959.8PIK3CA, STK11, STRADA
3protein serine/threonine kinase activityGO:00046749.3AKT3, PIK3CA, STK11, STRADA

Sources for Megalencephaly

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet