MCID: MGL013
MIFTS: 48

Megalencephaly malady

Categories: Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Megalencephaly

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Sources:
51Orphanet, 46NINDS, 24GTR, 28ICD10 via Orphanet, 66UMLS via Orphanet, 27ICD10, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Megalencephaly:

Name: Megalencephaly 46 51 24
 
Macrencephaly 51

Characteristics:



Classifications:



External Ids:

Orphanet51 2477
ICD10 via Orphanet28 Q04.5
UMLS via Orphanet66 C0221355, C2720434
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 polyhydramnios, megalencephaly, and symptomatic epilepsy, 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 Fc gamma R-mediated phagocytosis. 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... 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 73)
idRelated DiseaseScoreTop Affiliating Genes
1megalencephaly-capillary malformation-polymicrogyria syndrome, somatic12.2
2polyhydramnios, megalencephaly, and symptomatic epilepsy12.2
3megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 112.2
4leukoencephalopathy, cystic, without megalencephaly12.1
5megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 212.1
6megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 312.1
7macrocephaly/megalencephaly syndrome, autosomal recessive12.0
8megalencephaly, polymicrogyria, and hydrocephalus syndrome12.0
9isolated megalencephaly12.0
10megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, somatic11.9
11focal alopecia congenital megalencephaly11.8
12megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome11.8
13hemimegalencephaly11.8
14megalencephalic leukoencephalopathy with subcortical cysts11.4
15cowden syndrome 111.2
16alexander disease11.2
17macrocephaly, benign familial10.8
18scrotal carcinoma10.5PIK3CA, PTEN
19vulvovaginal gingival syndrome10.4AKT3, CCND2, PIK3R2
20primary gastrointestinal melanoma10.4PIK3CA, PTEN
21hydrocephalus10.4
22polymicrogyria10.3
23autosomal dominant charcot-marie-tooth disease type 2f10.3CCND2, PIK3CA, PTEN
24polydactyly10.3
25cowden syndrome 610.3AKT3, PIK3CA, PTEN
26pancreatic cystadenocarcinoma10.2CCK, SST
27oligodontia-colorectal cancer syndrome10.2STK11, STRADA
28biliary tract disease10.2CCK, SST
29dentin sensitivity10.1CCK, SST
30glioma10.1AKT3, PIK3CA, PTEN
31frontotemporal dementia and/or amyotrophic lateral sclerosis 410.1PIK3CA, PTEN, SST
32hypoplastic left heart syndrome10.1AKT3, CCND2, PIK3R2, PTEN
33eccrine acrospiroma10.0PIK3CA, STK11
34rasmussen johnsen thomsen syndrome10.0CCK, SST
35tuberous sclerosis10.0
36cerebritis10.0
37neuronitis10.0
38achondroplasia9.9
39periventricular nodular heterotopia9.9
40leukodystrophy9.9
41polyhydramnios9.9
42intellectual disability9.9
43ataxia9.9
44sudden infant death syndrome9.7
45ataxia-telangiectasia9.7
46canavan disease9.7
47leprechaunism9.7
48sinusitis9.7
49ohtahara syndrome9.7
50spastic ataxia9.7

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 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 megalencephaly HP:0001355
18 intellectual disability HP:0001249

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, Breast, Thyroid, Prostate

Animal Models for Megalencephaly or affiliated genes

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MGI Mouse Phenotypes related to Megalencephaly:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.4AKT3, PIK3CA, PIK3R2, PTEN, STK11, TSC1
2MP:00053798.0AKT3, CCK, CCND2, PIK3CA, PTEN, STK11
3MP:00053857.5AKT3, CCND2, EIF2B5, PIK3CA, PIK3R2, PTEN
4MP:00053866.7AKT3, CCK, CCND2, EIF2B5, PIK3CA, PTEN
5MP:00053766.6AKT3, CCK, CCND2, EIF2B5, PIK3CA, PIK3R2
6MP:00036316.6AKT3, CCK, CCND2, EIF2B5, MLC1, PIK3CA

Publications for Megalencephaly

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Articles related to Megalencephaly:

(show top 50)    (show all 134)
idTitleAuthorsYear
1
Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE). (27170158)
2016
2
Focal megalencephaly: intraoperative ultrasound imaging in epilepsy surgery. (26578502)
2015
3
Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia. (25523067)
2015
4
Detection of a mosaic PIK3CA mutation in dental DNA from a child with megalencephaly capillary malformation syndrome. (26351730)
2015
5
Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP) - pure coincidence? (24939587)
2014
6
Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations. (24497998)
2014
7
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. (24705253)
2014
8
AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH. (23745724)
2013
9
Bilateral Periventricular Nodular Heterotopia With Megalencephaly: A Case Report. (23439715)
2013
10
Syndrome of megalencephaly, mega corpus callosum, and complete lack of motor development: exploring the phenotype. (24326961)
2013
11
Abnormal gyration of the temporal lobe and megalencephaly are typical features of thanatophoric dysplasia and can be visualized prenatally by ultrasound. (22374812)
2012
12
Genetics: mutations in mTOR pathway linked to megalencephaly syndromes. (22907262)
2012
13
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
14
Clinical and imaging characteristics of localized megalencephaly: a retrospective comparison of diffuse hemimegalencephaly and multilobar cortical dysplasia. (19672585)
2009
15
Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes. (19353582)
2009
16
Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome: a new case with syndactyly. (18474936)
2008
17
A patient with the syndrome of megalencephaly, mega corpus callosum and complete lack of motor development. (18076119)
2008
18
Idiopathic megalencephaly-possible cause and treatment opportunities: from patient to lab. (18242108)
2008
19
Magnetic resonance imaging and proton magnetic resonance spectroscopy of megalencephaly and dilated Virchow-Robin spaces. (16376276)
2006
20
Familial megalencephaly with dilated Virchow-Robin spaces in magnetic resonance imaging: an autosomal recessive trait? (15602091)
2005
21
Impact of early hemispherotomy in a case of Ohtahara syndrome with left parieto-occipital megalencephaly. (16046152)
2005
22
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures. (15627943)
2004
23
Effect of topiramate on enlargement of head in Canavan disease: a new option for treatment of megalencephaly. (15074377)
2004
24
Megalencephaly and leukodystrophy with mild clinical course: a report on 12 new cases. (9628190)
1998
25
Megalencephaly, hydrocephalus and cortical dysplasia in severe dwarfism mimicking leprechaunism. (9560023)
1998
26
Hemimegalencephaly and focal megalencephaly in tuberous sclerosis complex. (9874550)
1998
27
White matter attenuation and megalencephaly. (9279169)
1997
28
Leukoencephalopathy, megalencephaly, and mild clinical course. A recently individualized familial leukodystrophy. Report on five new cases. (9120220)
1996
29
Unilateral megalencephaly in association with Dandy-Walker complex. (7922722)
1994
30
Prenatal diagnosis of unilateral megalencephaly by real-time ultrasonography. (8178875)
1994
31
Autism and megalencephaly. (8098126)
1993
32
Macrocrania and megalencephaly in the neonate. (8511423)
1993
33
Dominantly inherited megalencephaly, muscle weakness, and myoliposis: a carnitine-deficient myopathy within the spectrum of the Ruvalcaba-Myhre-Smith syndrome. (8320628)
1993
34
Primitive megalencephaly in children: natural history, medium term prognosis with special reference to external hydrocephalus. (2347345)
1990
35
Megalencephaly secondary to occlusion and stenosis of sigmoid sinuses. (2310437)
1990
36
Unilateral megalencephaly: correlation of MR imaging and pathologic characteristics. (1693466)
1990
37
Megalencephaly in the epileptic chicken: a morphometric study of the adult brain. (2087267)
1990
38
Optic disc drusen and primary megalencephaly in children. (2709281)
1989
39
Megalencephaly in the neonatal period as the initial manifestation of glutaric aciduria type I. (2627209)
1989
40
Megalencephaly due to impaired cerebral venous return in a Sturge-Weber variant syndrome. (3598114)
1986
41
White matter attenuation and megalencephaly. (4073939)
1985
42
Megalencephaly with formation of Rosenthal fibers in symmetric subependymal gliomatous proliferations: clinicopathologic report. (6839573)
1983
43
Children with large heads: a practical approach to diagnosis in 557 children, with special reference to 109 children with megalencephaly. (7274594)
1981
44
Megalencephaly and chromosomal anomaly. (696244)
1978
45
Unilateral megalencephaly: hamartoma or neoplasm? (1169702)
1975
46
Megalencephaly in children. Clinical syndromes, genetic patterns, and differential diagnosis from other causes of megalocephaly. (4673338)
1972
47
Unilateral megalencephaly with nerve cell hypertrophy. An anatomical and quantitative histochemical study. (5699812)
1968
48
A CASE OF UNILATERAL MEGALENCEPHALY. (14248476)
1964
49
Megalencephaly. (5871502)
1964
50
Megalencephaly. (19990992)
1937

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 53)
idSuper pathwaysScoreTop Affiliating Genes
110.0PIK3CA, PIK3R2
29.7AKT3, PIK3CA, PIK3R2
39.7AKT3, PIK3CA, PIK3R2
49.7AKT3, PIK3CA, PIK3R2
5
Show member pathways
9.7AKT3, PIK3CA, PIK3R2
6
Show member pathways
9.7AKT3, PIK3CA, PIK3R2
79.7AKT3, PIK3CA, PIK3R2
89.7AKT3, PIK3CA, PIK3R2
99.7AKT3, PIK3CA, PIK3R2
10
Show member pathways
9.7AKT3, PIK3CA, PIK3R2
119.7AKT3, PIK3CA, PIK3R2
129.7AKT3, PIK3CA, PIK3R2
139.7AKT3, PIK3CA, PIK3R2
14
Show member pathways
9.7AKT3, PIK3CA, PIK3R2
15
Show member pathways
9.6PIK3CA, 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
199.4EIF2B5, PIK3CA, PIK3R2
209.4CCND2, PIK3CA, PIK3R2, PTEN
21
Show member pathways
9.4AKT3, PIK3CA, PIK3R2, PTEN
229.4AKT3, PIK3CA, PIK3R2, PTEN
23
Show member pathways
9.4AKT3, PIK3CA, PIK3R2, PTEN
24
Show member pathways
9.4AKT3, PIK3CA, PIK3R2, PTEN
259.4AKT3, PIK3CA, PIK3R2, PTEN
26
Show member pathways
9.4AKT3, PIK3CA, PIK3R2, PTEN
279.4AKT3, PIK3CA, PIK3R2, PTEN
28
Show member pathways
9.3AKT3, CCK, PIK3CA, PIK3R2
29
Show member pathways
9.1AKT3, CCND2, PIK3CA, PIK3R2, PTEN
30
Show member pathways
9.1AKT3, CCND2, PIK3CA, PIK3R2, PTEN
319.1AKT3, PIK3CA, PIK3R2, STK11
329.1AKT3, PTEN, TSC1
339.0PIK3CA, PTEN, STK11, STRADA
34
Show member pathways
8.9AKT3, PIK3CA, PIK3R2, TSC1
358.8PIK3CA, PIK3R2, PTEN, TSC1
368.8AKT3, PIK3R2, PTEN, TSC1
378.7STK11, STRADA, TSC1
38
Show member pathways
8.6AKT3, CCND2, PIK3R2, PTEN, TSC1
39
Show member pathways
8.5AKT3, CCND2, PIK3CA, PIK3R2, PTEN, STK11
408.4PIK3R2, PTEN, STK11, TSC1
41
Show member pathways
8.3AKT3, CCND2, PIK3CA, PIK3R2, PTEN, TSC1
42
Show member pathways
8.3AKT3, CCND2, PIK3CA, PIK3R2, PTEN, TSC1
43
Show member pathways
8.3AKT3, PIK3CA, PIK3R2, STK11, TSC1
44
Show member pathways
8.2PIK3CA, PIK3R2, STK11, STRADA, TSC1
45
Show member pathways
8.2AKT3, PIK3R2, STK11, STRADA, TSC1
46
Show member pathways
8.2AKT3, CCND2, PTEN, STK11, TSC1
47
Show member pathways
8.0AKT3, PIK3CA, PIK3R2, STK11, STRADA, TSC1
487.7AKT3, CCND2, PIK3CA, PIK3R2, PTEN, STK11
49
Show member pathways
7.6AKT3, PIK3R2, PTEN, STK11, STRADA, TBC1D7
50
Show member pathways
7.1AKT3, EIF2B5, PIK3CA, PIK3R2, PTEN, STK11

GO Terms for genes affiliated with Megalencephaly

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol biosynthetic processGO:000666110.3PIK3CA, PIK3R2
2endothelial cell migrationGO:004354210.3PIK3CA, PTEN
3T cell receptor signaling pathwayGO:00508529.9PIK3CA, PIK3R2, PTEN
4vasculature developmentGO:00019449.8PIK3CA, STK11
5regulation of translationGO:00064179.5EIF2B5, TSC1
6phospholipid metabolic processGO:00066449.5PIK3CA, PIK3R2, PTEN
7positive regulation of protein serine/threonine kinase activityGO:00719029.3STK11, STRADA
8insulin receptor signaling pathwayGO:00082868.5PIK3CA, PIK3R2, STK11, TSC1

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