MCID: MGL013
MIFTS: 50

Megalencephaly malady

Categories: Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Megalencephaly

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Sources:
52Orphanet, 47NINDS, 25GTR, 29ICD10 via Orphanet, 67UMLS via Orphanet, 28ICD10, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Megalencephaly:

Name: Megalencephaly 47 52 25
 
Macrencephaly 52

Characteristics:



Classifications:



External Ids:

Orphanet52 ORPHA2477
ICD10 via Orphanet29 Q04.5
UMLS via Orphanet67 C0221355, C2720434
ICD1028 Q04.5

Summaries for Megalencephaly

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NINDS:47 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 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, 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:69 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 84)
idRelated DiseaseScoreTop Affiliating Genes
1megalencephaly-capillary malformation-polymicrogyria syndrome, somatic12.2
2megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome12.2
3polyhydramnios, megalencephaly, and symptomatic epilepsy12.2
4megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 112.2
5leukoencephalopathy, cystic, without megalencephaly12.1
6megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 212.1
7megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 312.1
8macrocephaly/megalencephaly syndrome, autosomal recessive12.0
9isolated megalencephaly12.0
10megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, somatic11.9
11focal alopecia congenital megalencephaly11.8
12megalencephaly-severe kyphoscoliosis-overgrowth syndrome11.8
13hemimegalencephaly11.8
14megalencephalic leukoencephalopathy with subcortical cysts11.4
15cowden syndrome 111.2
16alexander disease11.2
17macrocephaly, benign familial10.8
18interstitial myocarditis10.6PIK3CA, PTEN
19leber congenital amaurosis 710.6ENSG00000268173, PIK3R2
20spongiotic dermatitis10.6MTOR, PIK3CA
21pancreatitis, pediatric10.5MTOR, PIK3CA
22cataract 710.5STK11, STRADA
23vaginal adenosarcoma10.5PIK3CA, PIK3R2
24pelvic varices10.5CCK, SST
25cowden syndrome 610.4AKT3, PIK3CA, PTEN
26hemochromatosis type 210.4AKT3, MTOR, PIK3CA
27spinocerebellar ataxia, autosomal recessive 210.4MTOR, TSC1
28endocrine gland cancer10.4CCK, PIK3CA, SST
29encapsulated thymoma10.4AKT3, MTOR, PIK3CA
30hydrocephalus10.4
31polymicrogyria10.4
32megalocornea-intellectual disability syndrome10.3AKT3, CCND2, ENSG00000268173, PIK3R2
33hypotonia10.3PTEN, S100B
34polydactyly10.3
35pituitary deficiency due to rathke's pouch cysts10.2S100B, SST
36lipoma of the rectum10.2PIK3CA, PTEN, STK11
37frontotemporal dementia and/or amyotrophic lateral sclerosis 410.2PIK3CA, PTEN, SST
38congenital fibrosarcoma10.2MTOR, TSC1
39zimmermann-laband syndrome 210.2MTOR, PIK3CA, PTEN
40gliomatosis peritonei10.1AKT3, MTOR, PIK3CA, PTEN
41brachyolmia10.0MTOR, PIK3CA, PTEN
42epilepsy10.0
43pilomyxoid astrocytoma10.0MTOR, TSC1
44tuberous sclerosis10.0
45cerebritis10.0
46neuronitis10.0
47herpes simplex encephalitic 610.0PTEN, STK11, TSC1
48combat disorder10.0MTOR, PIK3CA
49neonatal infective mastitis10.0AKT3, MTOR, TBC1D7, TSC1
50cauda equina intradural extramedullary astrocytoma9.9MTOR, TSC1

Graphical network of the top 20 diseases related to Megalencephaly:



Diseases related to megalencephaly

Symptoms for Megalencephaly

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Symptoms:

 52 (show all 16)
  • long penis
  • macroorchidism
  • abnormality of the fontanelles or cranial sutures
  • macrocephaly
  • dolichocephaly
  • prominent occiput
  • pointed chin
  • wide nasal bridge
  • short neck
  • deeply set eye
  • intellectual disability
  • defect in the atrial septum
  • truncal obesity
  • frontal bossing
  • delayed skeletal maturation
  • genu valgum

HPO human phenotypes related to Megalencephaly:

(show all 18)
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 intellectual disability HP:0001249
18 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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Genetic tests related to Megalencephaly:

id Genetic test Affiliating Genes
1 Megalencephaly25

Anatomical Context for Megalencephaly

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MalaCards organs/tissues related to Megalencephaly:

34
Brain, Spinal cord, Cortex, Eye, Temporal lobe

Animal Models for Megalencephaly or affiliated genes

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MGI Mouse Phenotypes related to Megalencephaly:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.1AKT3, PIK3CA, PIK3R2, PTEN, STK11, TSC1
2MP:00053798.3AKT3, CCK, CCND2, MTOR, PIK3CA, PTEN
3MP:00036316.6AKT3, 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 136)
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 top 50)    (show all 57)
idSuper pathwaysScoreTop Affiliating Genes
19.8AKT3, PIK3CA, PIK3R2
2
Show member pathways
9.8AKT3, PIK3CA, PIK3R2
3
Show member pathways
9.7CCND2, MTOR, PIK3CA
4
Show member pathways
9.7MTOR, PIK3CA, PIK3R2
59.7MTOR, PIK3CA, PIK3R2
69.6AKT3, CCND2, PIK3CA, PIK3R2
79.5AKT3, PIK3CA, PIK3R2, PTEN
8
Show member pathways
9.5AKT3, PIK3CA, PIK3R2, PTEN
99.5AKT3, PIK3CA, PIK3R2, PTEN
109.5AKT3, MTOR, STK11
119.5AKT3, MTOR, PIK3CA, PIK3R2
129.5AKT3, MTOR, PIK3CA, PIK3R2
13
Show member pathways
9.5AKT3, MTOR, PIK3CA, PIK3R2
14
Show member pathways
9.5AKT3, MTOR, PIK3CA, PIK3R2
15
Show member pathways
9.5AKT3, MTOR, PIK3CA, PIK3R2
169.5AKT3, MTOR, PIK3CA, PIK3R2
179.4AKT3, PIK3CA, PIK3R2, STK11
18
Show member pathways
9.4AKT3, MTOR, PIK3CA, PTEN
19
Show member pathways
9.3AKT3, CCND2, MTOR, PIK3CA, PIK3R2
20
Show member pathways
9.3AKT3, CCND2, MTOR, PIK3CA, PIK3R2
219.3PIK3CA, PTEN, STK11, STRADA
229.2CCND2, MTOR, PIK3CA, PIK3R2, PTEN
239.2EIF2B5, MTOR, PIK3CA, PIK3R2
249.2AKT3, MTOR, PIK3CA, PIK3R2, PTEN
259.2AKT3, MTOR, PIK3CA, PIK3R2, PTEN
26
Show member pathways
9.2AKT3, MTOR, PIK3CA, PIK3R2, PTEN
27
Show member pathways
9.2AKT3, MTOR, PIK3CA, PIK3R2, PTEN
28
Show member pathways
9.2AKT3, MTOR, PIK3CA, PIK3R2, PTEN
29
Show member pathways
9.2MTOR, PIK3CA, PTEN, TSC1
309.1AKT3, MTOR, PTEN, TSC1
31
Show member pathways
9.0AKT3, MTOR, PIK3CA, PIK3R2, TSC1
329.0MTOR, STK11, STRADA, TSC1
33
Show member pathways
9.0AKT3, CCND2, MTOR, PIK3CA, PIK3R2, PTEN
348.9MTOR, PIK3CA, PIK3R2, PTEN, TSC1
358.9AKT3, MTOR, PIK3R2, PTEN, TSC1
36
Show member pathways
8.9AKT3, CCND2, PIK3CA, PIK3R2, PTEN, STK11
378.8AKT3, PIK3CA, PIK3R2, PTEN, TBC1D7, TSC1
38
Show member pathways
8.7AKT3, CCND2, MTOR, PIK3R2, PTEN, TSC1
398.7MTOR, PIK3R2, PTEN, STK11, TSC1
40
Show member pathways
8.7AKT3, EIF2B5, MTOR, PIK3CA, PIK3R2, PTEN
41
Show member pathways
8.6AKT3, MTOR, PIK3CA, PIK3R2, STK11, TSC1
42
Show member pathways
8.6MTOR, PIK3CA, PIK3R2, STK11, STRADA, TSC1
43
Show member pathways
8.6AKT3, MTOR, PIK3R2, STK11, STRADA, TSC1
44
Show member pathways
8.5AKT3, CCND2, MTOR, PTEN, STK11, TSC1
45
Show member pathways
8.5AKT3, CCND2, MTOR, PIK3CA, PIK3R2, PTEN
46
Show member pathways
8.5AKT3, CCND2, MTOR, PIK3CA, PIK3R2, PTEN
47
Show member pathways
8.4AKT3, MTOR, PIK3CA, PIK3R2, STK11, STRADA
488.1AKT3, CCND2, MTOR, PIK3CA, PIK3R2, PTEN
49
Show member pathways
8.0AKT3, MTOR, PIK3R2, PTEN, STK11, STRADA
50
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:00059429.9ENSG00000268173, MTOR, PIK3CA, PIK3R2
2neuronal cell bodyGO:00430258.1CCK, MBP, MTOR, S100B, SST

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

(show all 26)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of glucose import in response to insulin stimulusGO:200127510.5ENSG00000268173, PIK3R2
2regulation of phosphatidylinositol 3-kinase activityGO:004355110.5ENSG00000268173, PIK3R2
3regulation of protein kinase B signalingGO:005189610.3MTOR, STK11
4phosphatidylinositol-3-phosphate biosynthetic processGO:003609210.3ENSG00000268173, PIK3CA, PIK3R2
5negative regulation of cilium assemblyGO:190201810.3TBC1D7, TBC1D7-LOC100130357
6phosphatidylinositol phosphorylationGO:004685410.2ENSG00000268173, PIK3CA, PIK3R2
7regulation of phosphatidylinositol 3-kinase signalingGO:001406610.2ENSG00000268173, PIK3CA, PIK3R2
8negative regulation of macroautophagyGO:001624210.2MTOR, TSC1
9positive regulation of transcription factor import into nucleusGO:004299310.1ENSG00000268173, PIK3R2
10phosphatidylinositol biosynthetic processGO:00066619.9ENSG00000268173, PIK3CA, PIK3R2, PTEN
11response to nutrientGO:00075849.9MTOR, PTEN, SST
12positive regulation of peptidyl-tyrosine phosphorylationGO:00507319.9CCK, MTOR, STK11
13astrocyte differentiationGO:00487089.8EIF2B5, S100B
14negative regulation of cell sizeGO:00457929.6MTOR, PTEN, TSC1
15activation of protein kinase activityGO:00321479.6PIK3CA, STK11, STRADA
16vascular endothelial growth factor receptor signaling pathwayGO:00480109.6ENSG00000268173, PIK3CA, PIK3R2
17negative regulation of TOR signalingGO:00320079.5TBC1D7, TBC1D7-LOC100130357, TSC1
18phosphatidylinositol-mediated signalingGO:00480159.5ENSG00000268173, MTOR, PIK3CA, PIK3R2, PTEN
19response to endoplasmic reticulum stressGO:00349769.4EIF2B5, ENSG00000268173, PIK3R2
20activation of GTPase activityGO:00906309.4TBC1D7, TBC1D7-LOC100130357, TSC1
21Fc-gamma receptor signaling pathway involved in phagocytosisGO:00380969.4ENSG00000268173, PIK3CA, PIK3R2
22cell cycle arrestGO:00070509.3MTOR, STK11, STRADA, TSC1
23T cell receptor signaling pathwayGO:00508529.3ENSG00000268173, PIK3CA, PIK3R2, PTEN, STK11
24protein phosphorylationGO:00064689.2AKT3, MTOR, PIK3CA, STK11, STRADA
25myelinationGO:00425529.1EIF2B5, MBP, TSC1
26cellular response to hypoxiaGO:00714569.0MTOR, PTEN, S100B

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

idNameGO IDScoreTop Affiliating Genes
11-phosphatidylinositol-3-kinase regulator activityGO:004693510.6ENSG00000268173, PIK3R2
21-phosphatidylinositol-3-kinase activityGO:001630310.4ENSG00000268173, PIK3CA, PIK3R2
3phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:004693410.4ENSG00000268173, PIK3CA, PIK3R2
4protein kinase activator activityGO:003029510.2PIK3CA, STK11, STRADA
5GTPase activator activityGO:00050969.3ENSG00000268173, PIK3R2, TBC1D7, TBC1D7-LOC100130357
6protein bindingGO:00055154.2AKT3, CCK, CCND2, EIF2B5, ENSG00000268173, MBP

Sources for Megalencephaly

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet