MCID: MGL013
MIFTS: 47

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 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 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 124)
idRelated DiseaseScoreTop Affiliating Genes
1megalencephaly-capillary malformation-polymicrogyria syndrome, somatic12.6
2megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 112.5
3leukoencephalopathy, cystic, without megalencephaly12.5
4megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 212.5
5polyhydramnios, megalencephaly, and symptomatic epilepsy12.5
6megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 312.5
7macrocephaly/megalencephaly syndrome, autosomal recessive12.4
8megalencephaly, polymicrogyria, and hydrocephalus syndrome12.4
9isolated megalencephaly12.3
10megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, somatic12.3
11focal alopecia congenital megalencephaly12.2
12megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome12.2
13hemimegalencephaly12.0
14megalencephalic leukoencephalopathy with subcortical cysts11.8
15cowden syndrome 111.6
16alexander disease11.6
17macrocephaly, benign familial11.2
18thyroiditis10.4
19scrotal carcinoma10.3PIK3CA, PTEN
20prostate cancer10.3
21breast cancer10.3
22hepatitis10.3
23prostatitis10.3
24cervicitis10.3
25vulvovaginal gingival syndrome10.3AKT3, CCND2, PIK3R2
26primary gastrointestinal melanoma10.2PIK3CA, PTEN
27autosomal dominant charcot-marie-tooth disease type 2f10.2CCND2, PIK3CA, PTEN
28chronic lymphocytic leukemia10.2
29leukemia10.2
30hepatitis c10.2
31autoimmune thyroiditis10.2
32psoriasis10.2
33hypoglycemia10.2
34cervical intraepithelial neoplasia10.2
35cowden syndrome 610.2AKT3, PIK3CA, PTEN
36pancreatic cystadenocarcinoma10.1CCK, SST
37oligodontia-colorectal cancer syndrome10.1STK11, STRADA
38biliary tract disease10.1CCK, SST
39dentin sensitivity10.1CCK, SST
40glioma10.1AKT3, PIK3CA, PTEN
41frontotemporal dementia and/or amyotrophic lateral sclerosis 410.1PIK3CA, PTEN, SST
42hypoplastic left heart syndrome10.0AKT3, CCND2, PIK3R2, PTEN
43rheumatoid arthritis10.0
44medulloblastoma10.0
45systemic lupus erythematosus10.0
46asthma10.0
47hepatitis c virus10.0
48alzheimer disease10.0
49williams-beuren syndrome10.0
50chondrosarcoma10.0

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 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, Bone, Breast, Nk cells

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 127)
idTitleAuthorsYear
1
Intracranial Hemangiopericytoma in a Child: A Case Report with Magnetic Resonance Spectroscopy Findings. (26768885)
2016
2
Mammalian target of rapamycin complex 2 (mTORC2) regulates LPS-induced expression of IL-12 and IL-23 in human dendritic cells. (25877925)
2015
3
Relationship between EPHX2 gene polymorphisms and essential hypertension in Uygur, Kazakh, and Han. (25966114)
2015
4
Bidirectional regulation between TMEFF2 and STAT3 may contribute to Helicobacter pylori-associated gastric carcinogenesis. (24996057)
2015
5
Stabilization of hepatitis C associated collapsing focal segmental glomerulosclerosis with interferon alpha-2a and ribavirin. (22541681)
2013
6
Quantitative proteomic analysis of HER2 normal and overexpressing MCF-7 breast cancer cells revealed proteomic changes accompanied with HER2 gene amplification. (23851309)
2013
7
Syphilitic chorioretinitis mimicking an anterior chiasmal syndrome. (25389748)
2012
8
CYP3A variation, premenopausal estrone levels, and breast cancer risk. (22472546)
2012
9
Pathological gambling: a systematic review of biochemical, neuroimaging, and neuropsychological findings. (22716504)
2012
10
Successful treatment of osteitis fibrosa cystica from primary hyperparathyroidism. (23259108)
2012
11
Predictors of acid suppression success in patients with chronic laryngitis. (22276941)
2012
12
Academic cross-fertilization by public screening yields a remarkable class of protein phosphatase methylesterase-1 inhibitors. (21398589)
2011
13
Preauricular sinus, nephrolithiasis, infantine eczema and natal tooth: a new association. (21398203)
2011
14
Generalized peritonitis due to perforated diverticulitis: Hartmann's procedure or primary anastomosis? (20949274)
2011
15
Liver X receptor expression in human melanocytes, does it have a role in the pathogenesis of vitiligo? (19645823)
2010
16
CYP3A4 catalytic activity is induced in confluent Huh7 hepatoma cells. (20233841)
2010
17
Characterization of high molecular weight multimeric states of human haptoglobin and hemoglobin-based oxygen carriers by high-mass MALDI MS. (19296479)
2009
18
Hypothetical hormonal mechanism by which potassium-rich diets benefit patients with rheumatoid arthritis. (19560875)
2009
19
Polarization-sensitive optical coherence tomographic imaging of artificial demineralization on exposed surfaces of tooth roots. (19167052)
2009
20
Ichthyosis congenita, harlequin fetus type: a case report. (19556209)
2009
21
Treatment with removable prosthesis in hypohidrotic ectodermal dysplasia. A clinical case. (18223528)
2008
22
Inflammatory receptors and pathways in human NT2-N neurons during hypoxia and reoxygenation. Impact of acidosis. (18502402)
2008
23
Detection of Cysticercus antigens and antibodies in cerebrospinal fluid of patients with chronic meningitis. (18026642)
2007
24
Amplification of CRAC current by STIM1 and CRACM1 (Orai1). (16733527)
2006
25
Fibroblast growth factor 23 is increased in calcium nephrolithiasis with hypophosphatemia and renal phosphate leak. (16352682)
2006
26
Post intra ventricular hemorrhage neonatal cranial diabetes insipidus. (16585827)
2006
27
Serum creatine phosphokinase monitoring in patients infected with HIV. (16409682)
2006
28
Acute lymphoblastic leukemic transformation in a patient with chronic idiopathic myelofibrosis and paroxysmal nocturnal hemoglobinuria: a case report and review of the literature. (15628917)
2005
29
Cystic lymphangioma of the jejunal mesentery in an adult: a case report. (16124074)
2005
30
A novel adaptation of the integrin PSI domain revealed from its crystal structure. (15299032)
2004
31
Presenilin 1 is required for maturation and cell surface accumulation of nicastrin. (11943765)
2002
32
Regulatory roles of thioredoxin in oxidative stress-induced cellular responses. (11778846)
2001
33
Apo2 ligand/TNF-related apoptosis-inducing ligand and death receptor 5 mediate the apoptotic signaling induced by ionizing radiation in leukemic cells. (11059770)
2000
34
Effects of kappa- and mu-opioid receptor agonists on Ca2+ channels in neuroblastoma cells: involvement of the orphan opioid receptor. (10497906)
1999
35
Endothelial activation and cytokine expression in human acute cardiac allograft rejection. (9534204)
1998
36
Hypoxia regulates basal and induced DNA synthesis and collagen type I production in human cardiac fibroblasts: effects of transforming growth factor-beta1, thyroid hormone, angiotensin II and basic fibroblast growth factor. (9281454)
1997
37
Neonatal jaundice, animal-induced injuries and disease, and immunizations. (9300206)
1997
38
The Lx1 gene maps to mouse chromosome 17 and codes for a protein that is homologous to glucose and polyspecific transmembrane transporters. (8854860)
1996
39
Protective features of pore-forming proteins of pathogenic bacteria]. (8963189)
1996
40
Herniated cervical intervertebral discs spontaneously produce matrix metalloproteinases, nitric oxide, interleukin-6, and prostaglandin E2. (8578386)
1995
41
Differential increase in the maternal serum concentrations of the placental proteins human chorionic gonadotrophin, pregnancy-specific beta 1-glycoprotein, human placental lactogen and pregnancy-associated plasma protein-A during the first half of normal pregnancy, elucidated by means of a mathematical model. (7539450)
1995
42
Oncogenic osteomalacia: imaging studies. (8387360)
1993
43
Early infantile epileptic encephalopathy: a case associated with hemimegalencephaly. (1492660)
1992
44
Histamine-releasing factors and inhibitory factors. (1718882)
1991
45
Transient global amnesia: characterization of anterograde and retrograde amnesia. (3340282)
1988
46
Toxic megacolon presenting in the leukocyte scan as distended transverse bowel. (3130613)
1988
47
Increased plasma copper in patients with homocystinuria due to cystathionine beta-synthase deficiency. (6825304)
1983
48
Fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy are deficient in uridine 5'-diphosphate-N-acetylglucosamine: glycoprotein N-acetylglucosaminylphosphotransferase activity. (6262380)
1981
49
Flat preparations of the retinal vessels in Coats' disease. (798026)
1976
50
Virus of bats antigenically related to St. Louis encephalitis. (13298681)
1956

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, PIK3CA, PIK3R2, PTEN
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, PIK3R2, STK11, STRADA, 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