MCID: MGL038
MIFTS: 51

Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome

MalaCards integrated aliases for Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome:

Name: Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome 57 25 59 75
Megalencephaly Cutis Marmorata Telangiectatica Congenita 53 25 29 6 73
Megalencephaly-Capillary Malformation Syndrome 57 53 25 59 75
Mcmtc 57 25 59 75
Mcap 57 25 59 75
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic 57 13 40
Macrocephaly-Capillary Malformation 57 53 75
Mcm 57 59 75
Megalencephaly-Cutis Marmorata Telangiectatica Congenita 57 75
Macrocephaly-Cutis Marmorata Telangiectatica Congenita 57 75
Macrocephaly Cutis Marmorata Telangiectatica Congenita 53 25
Macrocephaly-Capillary Malformation Syndrome 25 59
M-Cm 53 25
Megalencephaly-Cutis Marmorata Telangiectatica Congenita Syndrome 59
Macrocephaly-Cutis Marmorata Telangiectatica Congenita Syndrome 59
Macrocephaly-Cutis Marmorata Telangiectatica Congenita; Mcmtc 57
Megalocephaly Cutis Marmorata Telangiectatica Congenita 53
Macrocephaly-Capillary Malformation; Mcm 57
M-Cmtc 53

Characteristics:

Orphanet epidemiological data:

59
megalencephaly-capillary malformation-polymicrogyria syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

57
Inheritance:
somatic mutation


HPO:

32
megalencephaly-capillary malformation-polymicrogyria syndrome:
Inheritance somatic mutation sporadic


Classifications:



Summaries for Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 60040Disease definitionMegalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.EpidemiologyApproximately 170 patients have been reported in the literature without significant sex predominance.Clinical descriptionSymptoms are usually recognizable at birth. Their severity varies widely among patients. Macrocephaly is a major clinical feature and results from megalencephaly, which sometimes progresses to hydrocephaly. Vascular lesions (not cutis marmorata as previously thought) are often scattered over the limbs, palms, soles and trunk, are frequently pink/red, and are aggravated by crying and emotions. Facial dysmorphism is observed with full cheeks, frontal bossing, and nevus flammeus of the nose and/or philtrum and upper lip. There is a delay in speech and motor skills. Patients may present neurological symptoms, mainly neonatal hypotonia, and less frequently seizures. Additional clinical manifestations include prenatal overgrowth, limb asymmetry, joint laxity, soft skin and thick subcutaneous tissue, and/or toe syndactyly. Some patients develop neoplasias (risk of tumor development estimated at 5-6%). There is also an increased risk for congenital heart defects such as tetralogy of Fallot (see this term).EtiologyRecently, somatic mutations of the PIK3CA gene (3q26), with evidence of postzygotic mosaicism, were found in several patients. PIK3CA encodes the p110α catalytic subunit of phosphatidylinositide 3-kinase, an enzyme that regulates a wide range of processes such as cell growth, metabolism, angiogenesis, and brain development.Diagnostic methodsThree sets of clinical diagnostic criteria have been proposed (Robertson's, Franceschini's, and Martinez-Glez's criteria) that include a combination of major (e.g. macrocephaly) and minor (e.g. neonatal hypotonia, syndactyly, asymmetric overgrowth, capillary malformation, midline facial nevus flammeus and connective tissue defects) criteria. The clinical diagnosis of MCAP may be supported by MRI showing structural cerebral abnormalities like polymicrogyria and focal cortical dysplasia, ventriculomegaly, cerebral/cerebellar asymmetry, cerebellar tonsil herniation, white matter and/or periventricular regions signal abnormalities with increased T2 signal intensity, thick corpus callosum, large venous sinuses and prominent perivascular spaces.Differential diagnosisDifferential diagnoses include Megalencephaly - polymicrogyria - post-axial polydactyly - hydrocephalus, Klippel-Trénaunay syndrome, Beckwith-Wiedemann syndrome, and PTEN hamartoma tumor syndrome (PHTS) (see these terms).Antenatal diagnosisPrenatal ultrasound shows marked fetal overgrowth and progressive macrocephaly in the absence of maternal hyperglycemia or fetal hyperinsulinemia, hydrocephalus, frontal bossing, polydactyly, limb asymmetry, polyhydramnios, hydrops fetalis and pleural effusion.Genetic counselingAll reported cases occurred sporadically; the recurrence risk for sibs is probably low.Management and treatmentManagement requires a multidisciplinary approach (involving neurology, ophthalmology, cardiology, orthopedics, audiometrics, physiotherapy, psychology and dermatology). Neurosurgery can be performed depending on the severity of brain abnormalities (eg. endoscopic third ventriculostomy, posterior fossa decompression). A regular surveillance (brain MRI through the first 6 years of life, renal ultrasound for Wilm's tumor screening through the first 8 years of life) is recommended.PrognosisPrognosis depends on the severity of symptoms. Early death, due to feeding difficulties, complex cardiac heart disease and arrhythmia, has been reported in rare occasions.Visit the Orphanet disease page for more resources.

MalaCards based summary : Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, also known as megalencephaly cutis marmorata telangiectatica congenita, is related to megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 and megalencephaly, and has symptoms including seizures An important gene associated with Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome is PIK3CA (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha), and among its related pathways/superpathways are Class I MHC mediated antigen processing and presentation and Response to elevated platelet cytosolic Ca2+. Affiliated tissues include skin, brain and heart, and related phenotypes are macrocephaly and frontal bossing

Genetics Home Reference : 25 Megalencephaly-capillary malformation syndrome (MCAP) is a disorder characterized by overgrowth of several tissues in the body. Its primary features are a large brain (megalencephaly) and abnormalities of small blood vessels in the skin called capillaries (capillary malformations).

OMIM : 57 Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is characterized by a spectrum of anomalies including primary megalencephaly, prenatal overgrowth, brain and body asymmetry, cutaneous vascular malformations, digital anomalies consisting of syndactyly with or without postaxial polydactyly, connective tissue dysplasia involving the skin, subcutaneous tissue, and joints, and cortical brain malformations, most distinctively polymicrogyria (summary by Mirzaa et al., 2012). This disorder is also known as the macrocephaly-capillary malformation (MCM) syndrome (Conway et al., 2007). Mirzaa et al. (2012) suggested use of the term MCAP rather than MCM to reflect the very large brain size, rather than simply large head size, that characterizes this syndrome, and the importance and high frequency of perisylvian polymicrogyria. (602501)

UniProtKB/Swiss-Prot : 75 Megalencephaly-capillary malformation-polymicrogyria syndrome: A syndrome characterized by a spectrum of anomalies including primary megalencephaly, prenatal overgrowth, brain and body asymmetry, cutaneous vascular malformations, digital anomalies consisting of syndactyly with or without postaxial polydactyly, connective tissue dysplasia involving the skin, subcutaneous tissue, and joints, and cortical brain malformations, most distinctively polymicrogyria.

Related Diseases for Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome

Graphical network of the top 20 diseases related to Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome:



Diseases related to Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome

Symptoms & Phenotypes for Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
epicanthus
downslanting palpebral fissures
unilateral microphthalmia

Head And Neck Head:
megalencephaly
macrocephaly, progressive in infancy

Skeletal:
joint laxity

Skin Nails Hair Skin:
cutis marmorata
thick, loose, doughy skin
cutaneous vascular malformations
patchy, reticular stains

Skeletal Feet:
syndactyly
polydactyly

Neoplasia:
increased risk of leukemia
increased risk of meningioma
increased risk of wilms tumor

Head And Neck Nose:
flattened nasal bridge

Growth Other:
somatic overgrowth, asymmetric
hemihyperplasia

Muscle Soft Tissue:
thickened subcutaneous tissue

Neurologic Central Nervous System:
hydrocephalus
seizures
ventriculomegaly
polymicrogyria
developmental delay
more
Head And Neck Face:
smooth philtrum
broad forehead

Cardiovascular Heart:
ventricular septal defect

Skeletal Hands:
syndactyly
polydactyly

Growth Weight:
increased birth weight

Growth Height:
increased birth length

Head And Neck Ears:
fleshy earlobes

Head And Neck Mouth:
narrow arched palate


Clinical features from OMIM:

602501

Human phenotypes related to Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome:

59 32 (show top 50) (show all 56)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000256
2 frontal bossing 59 32 frequent (33%) Frequent (79-30%) HP:0002007
3 finger syndactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0006101
4 hydrocephalus 59 32 frequent (33%) Frequent (79-30%) HP:0000238
5 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
6 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
7 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
8 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
9 depressed nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0005280
10 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
11 arrhythmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0011675
12 full cheeks 59 32 frequent (33%) Frequent (79-30%) HP:0000293
13 joint hyperflexibility 59 32 frequent (33%) Frequent (79-30%) HP:0005692
14 arteriovenous malformation 59 32 hallmark (90%) Very frequent (99-80%) HP:0100026
15 ventriculomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002119
16 cerebral ischemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002637
17 aplasia/hypoplasia of the cerebellum 59 32 frequent (33%) Frequent (79-30%) HP:0007360
18 wide mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000154
19 deeply set eye 59 32 occasional (7.5%) Occasional (29-5%) HP:0000490
20 telangiectasia of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0100585
21 arnold-chiari malformation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002308
22 visceral angiomatosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100761
23 hand polydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001161
24 foot polydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001829
25 high forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000348
26 nevus flammeus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001052
27 hypermelanotic macule 59 32 frequent (33%) Frequent (79-30%) HP:0001034
28 facial asymmetry 59 32 hallmark (90%) Very frequent (99-80%) HP:0000324
29 toe syndactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001770
30 polymicrogyria 59 32 occasional (7.5%) Occasional (29-5%) HP:0002126
31 asymmetric growth 59 32 hallmark (90%) Very frequent (99-80%) HP:0100555
32 cutis marmorata 59 32 frequent (33%) Frequent (79-30%) HP:0000965
33 hypertelorism 32 HP:0000316
34 seizures 32 HP:0001250
35 megalencephaly 32 HP:0001355
36 smooth philtrum 32 HP:0000319
37 neoplasm 59 Occasional (29-5%)
38 malformation of the heart and great vessels 59 Occasional (29-5%)
39 hernia 32 HP:0100790
40 epicanthus 32 HP:0000286
41 abnormality of nervous system morphology 59 Frequent (79-30%)
42 broad forehead 32 HP:0000337
43 microphthalmia 32 HP:0000568
44 downslanted palpebral fissures 32 HP:0000494
45 joint laxity 32 HP:0001388
46 ventricular septal defect 32 HP:0001629
47 meningioma 32 HP:0002858
48 large earlobe 32 HP:0009748
49 nephroblastoma 32 HP:0002667
50 generalized hypotonia 32 HP:0001290

UMLS symptoms related to Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome:


seizures

GenomeRNAi Phenotypes related to Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.03 PIK3CA
2 Decreased viability GR00173-A 10.03 PIK3R2
3 Decreased viability GR00221-A-1 10.03 PIK3CA AKT3 PIK3R2
4 Decreased viability GR00221-A-2 10.03 PIK3CA AKT3 PIK3R2
5 Decreased viability GR00221-A-3 10.03 AKT3
6 Decreased viability GR00221-A-4 10.03 PIK3R2 PIK3CA AKT3
7 Decreased viability GR00301-A 10.03 AKT3 PIK3R2
8 Decreased viability GR00402-S-2 10.03 PIK3CA AKT3 PIK3R2
9 Decreased cell migration GR00055-A-1 9.13 AKT3 PIK3CA PIK3R2

MGI Mouse Phenotypes related to Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 8.8 AKT3 PIK3CA PIK3R2

Drugs & Therapeutics for Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome

Search Clinical Trials , NIH Clinical Center for Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome

Genetic Tests for Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome

Genetic tests related to Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome:

# Genetic test Affiliating Genes
1 Megalencephaly Cutis Marmorata Telangiectatica Congenita 29 PIK3CA

Anatomical Context for Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome

MalaCards organs/tissues related to Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome:

41
Skin, Brain, Heart, Tonsil, Cerebellum, Eye

Publications for Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome

Articles related to Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome:

# Title Authors Year
1
Commentary on &amp;quot;Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea&amp;quot;. ( 29441111 )
2018
2
Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea. ( 28018470 )
2016
3
Severe holocord syrinx in a child with megalencephaly-capillary malformation syndrome. ( 27035547 )
2016
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
Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome. ( 23754335 )
2013

Variations for Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome:

75 (show all 15)
# Symbol AA change Variation ID SNP ID
1 PIK3CA p.Arg88Gln VAR_026167 rs121913287
2 PIK3CA p.Glu545Lys VAR_026178 rs104886003
3 PIK3CA p.Tyr1021Cys VAR_026184 rs121913288
4 PIK3CA p.Ala1035Val VAR_026189
5 PIK3CA p.Met1043Ile VAR_026190 rs121913283
6 PIK3CA p.His1047Tyr VAR_026193 rs121913281
7 PIK3CA p.Glu81Lys VAR_069251
8 PIK3CA p.Gly364Arg VAR_069252
9 PIK3CA p.Glu365Lys VAR_069253
10 PIK3CA p.Cys378Tyr VAR_069254 rs397514565
11 PIK3CA p.Glu726Lys VAR_069256 rs867262025
12 PIK3CA p.Gly914Arg VAR_069257 rs587776932
13 PIK3CA p.Thr1025Ala VAR_069258 rs397517202
14 PIK3CA p.Gly1049Ser VAR_069259 rs121913277
15 PIK3CA p.Ile112Asn VAR_075634 rs863225460

ClinVar genetic disease variations for Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome:

6
(show all 19)
# Gene Variation Type Significance SNP ID Assembly Location
1 PIK3CA NM_006218.3(PIK3CA): c.1633G> A (p.Glu545Lys) single nucleotide variant Pathogenic/Likely pathogenic rs104886003 GRCh37 Chromosome 3, 178936091: 178936091
2 PIK3CA NM_006218.3(PIK3CA): c.1633G> A (p.Glu545Lys) single nucleotide variant Pathogenic/Likely pathogenic rs104886003 GRCh38 Chromosome 3, 179218303: 179218303
3 PIK3CA NM_006218.3(PIK3CA): c.1633G> A (p.Glu545Lys) single nucleotide variant Pathogenic/Likely pathogenic rs104886003 NCBI36 Chromosome 3, 180418785: 180418785
4 PIK3CA NM_006218.3(PIK3CA): c.2740G> A (p.Gly914Arg) single nucleotide variant Pathogenic/Likely pathogenic rs587776932 GRCh37 Chromosome 3, 178947865: 178947865
5 PIK3CA NM_006218.3(PIK3CA): c.2740G> A (p.Gly914Arg) single nucleotide variant Pathogenic/Likely pathogenic rs587776932 GRCh38 Chromosome 3, 179230077: 179230077
6 PIK3CA NM_006218.3(PIK3CA): c.1133G> A (p.Cys378Tyr) single nucleotide variant Pathogenic rs397514565 GRCh37 Chromosome 3, 178922364: 178922364
7 PIK3CA NM_006218.3(PIK3CA): c.1133G> A (p.Cys378Tyr) single nucleotide variant Pathogenic rs397514565 GRCh38 Chromosome 3, 179204576: 179204576
8 PIK3CA NM_006218.3(PIK3CA): c.3139C> T (p.His1047Tyr) single nucleotide variant Pathogenic rs121913281 GRCh37 Chromosome 3, 178952084: 178952084
9 PIK3CA NM_006218.3(PIK3CA): c.3139C> T (p.His1047Tyr) single nucleotide variant Pathogenic rs121913281 GRCh38 Chromosome 3, 179234296: 179234296
10 PIK3CA NM_006218.3(PIK3CA): c.1359_1361delAGA (p.Glu453del) deletion Pathogenic rs587776933 GRCh38 Chromosome 3, 179210293: 179210295
11 PIK3CA NM_006218.3(PIK3CA): c.1359_1361delAGA (p.Glu453del) deletion Pathogenic rs587776933 GRCh37 Chromosome 3, 178928081: 178928083
12 PIK3R2 NM_005027.3(PIK3R2): c.1117G> A (p.Gly373Arg) single nucleotide variant Pathogenic rs587776934 GRCh38 Chromosome 19, 18162974: 18162974
13 PIK3R2 NM_005027.3(PIK3R2): c.1117G> A (p.Gly373Arg) single nucleotide variant Pathogenic rs587776934 GRCh37 Chromosome 19, 18273784: 18273784
14 AKT3 NM_005465.4(AKT3): c.686A> G (p.Asn229Ser) single nucleotide variant Pathogenic rs397514605 GRCh37 Chromosome 1, 243776983: 243776983
15 AKT3 NM_005465.4(AKT3): c.686A> G (p.Asn229Ser) single nucleotide variant Pathogenic rs397514605 GRCh38 Chromosome 1, 243613681: 243613681
16 PIK3CA NM_006218.3(PIK3CA): c.335T> A (p.Ile112Asn) single nucleotide variant Pathogenic rs863225460 GRCh37 Chromosome 3, 178916948: 178916948
17 PIK3CA NM_006218.3(PIK3CA): c.335T> A (p.Ile112Asn) single nucleotide variant Pathogenic rs863225460 GRCh38 Chromosome 3, 179199160: 179199160
18 PIK3CA NM_006218.3(PIK3CA): c.311_322delCAGTAGGCAACC (p.Pro104_Asn107del) deletion Likely pathogenic GRCh37 Chromosome 3, 178916924: 178916935
19 PIK3CA NM_006218.3(PIK3CA): c.311_322delCAGTAGGCAACC (p.Pro104_Asn107del) deletion Likely pathogenic GRCh38 Chromosome 3, 179199136: 179199147

Expression for Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome

Search GEO for disease gene expression data for Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome.

Pathways for Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome

Pathways related to Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 120)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.15 AKT3 PIK3CA PIK3R2
2
Show member pathways
13.04 AKT3 PIK3CA PIK3R2
3
Show member pathways
12.88 AKT3 PIK3CA PIK3R2
4
Show member pathways
12.82 AKT3 PIK3CA PIK3R2
5
Show member pathways
12.8 AKT3 PIK3CA PIK3R2
6
Show member pathways
12.77 AKT3 PIK3CA PIK3R2
7
Show member pathways
12.71 AKT3 PIK3CA PIK3R2
8
Show member pathways
12.71 AKT3 PIK3CA PIK3R2
9
Show member pathways
12.71 AKT3 PIK3CA PIK3R2
10
Show member pathways
12.7 AKT3 PIK3CA PIK3R2
11
Show member pathways
12.69 AKT3 PIK3CA PIK3R2
12
Show member pathways
12.68 AKT3 PIK3CA PIK3R2
13
Show member pathways
12.68 AKT3 PIK3CA PIK3R2
14 12.65 AKT3 PIK3CA PIK3R2
15
Show member pathways
12.63 AKT3 PIK3CA PIK3R2
16
Show member pathways
12.62 AKT3 PIK3CA PIK3R2
17
Show member pathways
12.59 AKT3 PIK3CA PIK3R2
18
Show member pathways
12.59 AKT3 PIK3CA PIK3R2
19
Show member pathways
12.56 AKT3 PIK3CA PIK3R2
20
Show member pathways
12.56 AKT3 PIK3CA PIK3R2
21
Show member pathways
12.55 AKT3 PIK3CA PIK3R2
22
Show member pathways
12.5 AKT3 PIK3CA PIK3R2
23
Show member pathways
12.5 AKT3 PIK3CA PIK3R2
24
Show member pathways
12.49 AKT3 PIK3CA PIK3R2
25
Show member pathways
12.44 AKT3 PIK3CA PIK3R2
26
Show member pathways
12.44 AKT3 PIK3CA PIK3R2
27
Show member pathways
12.44 AKT3 PIK3CA PIK3R2
28
Show member pathways
12.42 AKT3 PIK3CA PIK3R2
29
Show member pathways
12.42 AKT3 PIK3CA PIK3R2
30
Show member pathways
12.39 AKT3 PIK3CA PIK3R2
31
Show member pathways
12.36 AKT3 PIK3CA PIK3R2
32
Show member pathways
12.34 AKT3 PIK3CA PIK3R2
33
Show member pathways
12.33 AKT3 PIK3CA PIK3R2
34
Show member pathways
12.31 AKT3 PIK3CA PIK3R2
35
Show member pathways
12.3 AKT3 PIK3CA PIK3R2
36
Show member pathways
12.3 AKT3 PIK3CA PIK3R2
37
Show member pathways
12.29 AKT3 PIK3CA PIK3R2
38 12.28 AKT3 PIK3CA PIK3R2
39
Show member pathways
12.27 AKT3 PIK3CA PIK3R2
40
Show member pathways
12.26 AKT3 PIK3CA PIK3R2
41
Show member pathways
12.26 AKT3 PIK3CA PIK3R2
42
Show member pathways
12.24 AKT3 PIK3CA PIK3R2
43
Show member pathways
12.21 AKT3 PIK3CA PIK3R2
44
Show member pathways
12.19 AKT3 PIK3CA PIK3R2
45
Show member pathways
12.18 AKT3 PIK3CA PIK3R2
46
Show member pathways
12.16 AKT3 PIK3CA PIK3R2
47 12.16 AKT3 PIK3CA PIK3R2
48 12.15 AKT3 PIK3CA PIK3R2
49
Show member pathways
12.12 AKT3 PIK3CA
50
Show member pathways
12.11 AKT3 PIK3CA

GO Terms for Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome

Cellular components related to Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol 3-kinase complex GO:0005942 8.62 PIK3CA PIK3R2

Biological processes related to Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 leukocyte migration GO:0050900 9.51 PIK3CA PIK3R2
2 Fc-epsilon receptor signaling pathway GO:0038095 9.49 PIK3CA PIK3R2
3 T cell receptor signaling pathway GO:0050852 9.48 PIK3CA PIK3R2
4 positive regulation of protein kinase B signaling GO:0051897 9.46 PIK3CA PIK3R2
5 Fc-gamma receptor signaling pathway involved in phagocytosis GO:0038096 9.43 PIK3CA PIK3R2
6 phosphatidylinositol phosphorylation GO:0046854 9.4 PIK3CA PIK3R2
7 phosphatidylinositol biosynthetic process GO:0006661 9.37 PIK3CA PIK3R2
8 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.32 PIK3CA PIK3R2
9 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.26 PIK3CA PIK3R2
10 phosphatidylinositol-mediated signaling GO:0048015 9.16 PIK3CA PIK3R2
11 positive regulation of TOR signaling GO:0032008 8.96 AKT3 PIK3CA
12 phosphatidylinositol 3-kinase signaling GO:0014065 8.62 PIK3CA PIK3R2

Molecular functions related to Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 8.96 PIK3CA PIK3R2
2 1-phosphatidylinositol-3-kinase activity GO:0016303 8.62 PIK3CA PIK3R2

Sources for Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....