MCID: HMM003
MIFTS: 53

Hemimegalencephaly

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hemimegalencephaly

MalaCards integrated aliases for Hemimegalencephaly:

Name: Hemimegalencephaly 20 58 36 29 6 70
Macrencephaly 20 53 6
Unilateral Megalencephaly 20 58

Characteristics:

Orphanet epidemiological data:

58
hemimegalencephaly
Inheritance: Not applicable; Age of onset: Infancy;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

KEGG 36 H01833
ICD10 via Orphanet 33 Q04.5
UMLS via Orphanet 71 C0431391
Orphanet 58 ORPHA99802
UMLS 70 C0431391

Summaries for Hemimegalencephaly

NINDS : 53 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 : Hemimegalencephaly, also known as macrencephaly, is related to megalencephaly-capillary malformation-polymicrogyria syndrome and megalencephaly. An important gene associated with Hemimegalencephaly is PIK3CA (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha), and among its related pathways/superpathways are Signaling by GPCR and ERK Signaling. Affiliated tissues include brain, cortex and spinal cord, and related phenotypes are macrocephaly and seizures

GARD : 20 Hemimegalencephaly is a rare malformation involving one side of the brain. It may occur alone or in association with other syndromes such as Proteus syndrome, tuberous sclerosis, linear sebaceous nevus syndrome, neurofibromatosis, Sturge-Weber syndrome, or Klippel-Trenaunay syndrome. Children with this disorder may have a large, asymmetrical head accompanied by seizures, partial paralysis, and impaired cognitive development. Because the seizures associated with hemimegalencephaly are difficult to treat with anticonvulsant medications, a surgery called hemispherectomy is often the most successful treatment. The cause of hemimegalencephaly is not fully understood, but involves a disturbance of cells early in development and likely involves genes involved in patterning and symmetry.

KEGG : 36 Hemimegalencephaly is a rare brain malformation caused by anomalous neuronal and glial proliferation or differentiation, with an abnormally enlarged and dysplastic hemisphere. It can occur as an isolated finding, or as part of a syndrome, such as hypomelanosis of Ito, tuberous sclerosis complex, epidermal nevus syndrome or Klippel-Trenaunay syndrome. Patients have intellectual delay, hemiparesis and severe epilepsy. Drug resistant epilepsy is often treated with a hemispherectomy. If resective surgery is impossible, vagus nerve stimulation (VNS) can be used for seizure palliation. The etiology of hemimegalencephaly is not clear. Some authors consider abnormal neuroepithelial cell lineage as the primary cause.

Wikipedia : 73 Hemimegalencephaly (HME), or unilateral megalencephaly, is a rare congenital disorder affecting all or a... more...

Related Diseases for Hemimegalencephaly

Diseases related to Hemimegalencephaly via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 294)
# Related Disease Score Top Affiliating Genes
1 megalencephaly-capillary malformation-polymicrogyria syndrome 32.0 PIK3CA AKT3
2 megalencephaly 30.6 SCN1A PIK3CA MTOR LOC102724058 AKT3
3 nevus, epidermal 30.6 PTEN PIK3CA AKT3
4 tuberous sclerosis 1 30.1 RPS6 RHEB PTEN MTOR AKT3
5 status epilepticus 30.1 SCN1A MTOR GFAP
6 hydrocephalus 30.1 PTEN MTOR GFAP AKT3
7 polymicrogyria 30.0 SCN1A LOC102724058 AKT3
8 proteus syndrome 30.0 RHEB PTEN PIK3CA MTOR AKT3
9 hemangioma 29.6 PTEN MYC MTOR CTNNB1
10 lymphangioma 29.6 PIK3CA MYC CTNNB1 CCND1
11 tuberous sclerosis 29.6 RPS6 RHEB PTEN PIK3CA MYC MTOR
12 meningioma, familial 29.5 PTEN PIK3CA GFAP AKT3
13 tuberous sclerosis 2 29.5 RPS6 RHEB PTEN MTOR
14 hypertelorism 29.4 SCN1A PIK3CA LOC102724058
15 neuronal migration disorders 29.3 SCN1A LOC102724058
16 focal epilepsy 29.2 SCN1A PTEN MTOR LOC102724058
17 glioblastoma 28.7 PTEN PIK3CA MYC MTOR GFAP CCND1
18 klippel-trenaunay-weber syndrome 11.0
19 isolated megalencephaly 11.0
20 schimmelpenning-feuerstein-mims syndrome 10.9
21 smith-kingsmore syndrome 10.9
22 pik3ca-related overgrowth spectrum 10.9
23 stratton-parker syndrome 10.9
24 hemihyperplasia, isolated 10.4
25 west syndrome 10.4
26 seizure disorder 10.4
27 thyroid hurthle cell adenoma 10.4 PTEN PIK3CA
28 ovarian clear cell adenofibroma 10.4 PTEN PIK3CA
29 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.4
30 epilepsy 10.3
31 ovarian mixed germ cell neoplasm 10.3 PIK3CA MTOR
32 epiglottis neoplasm 10.3 PIK3CA CCND1
33 macrocephaly/megalencephaly syndrome, autosomal recessive 10.3
34 weber syndrome 10.3
35 hypomelanosis of ito 10.2
36 pachygyria 10.2
37 malignant spiradenoma 10.2 PIK3CA MTOR
38 microcystic stromal tumor 10.2 CTNNB1 CCND1
39 breast papillomatosis 10.2 PIK3CA CCND1
40 overgrowth syndrome 10.2
41 ethmoid sinus adenocarcinoma 10.2 PIK3CA CCND1
42 frontal convexity meningioma 10.2 PIK3CA GFAP
43 rosette-forming glioneuronal tumor 10.2 PIK3CA MAP2
44 anaplastic ependymoma 10.2 PTEN GFAP
45 immunodeficiency 14 10.2 PTEN PIK3CA MTOR
46 synchronous bilateral breast carcinoma 10.2 PTEN CCND1
47 autosomal dominant non-syndromic intellectual disability 19 10.2 CTNNB1 AKT3
48 gemistocytic astrocytoma 10.2 PTEN GFAP
49 angioosteohypertrophic syndrome 10.2
50 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 10.2 PTEN PIK3CA AKT3

Graphical network of the top 20 diseases related to Hemimegalencephaly:



Diseases related to Hemimegalencephaly

Symptoms & Phenotypes for Hemimegalencephaly

Human phenotypes related to Hemimegalencephaly:

58 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 Occasional (29-5%)
2 seizures 58 Very frequent (99-80%)
3 optic atrophy 58 Occasional (29-5%)
4 cranial nerve paralysis 58 Occasional (29-5%)
5 intellectual disability, severe 58 Occasional (29-5%)
6 myoclonus 58 Occasional (29-5%)
7 abnormal skull morphology 58 Frequent (79-30%)
8 ventriculomegaly 58 Frequent (79-30%)
9 polymicrogyria 58 Frequent (79-30%)
10 pachygyria 58 Occasional (29-5%)
11 status epilepticus 58 Occasional (29-5%)
12 psychomotor retardation 58 Frequent (79-30%)
13 gray matter heterotopia 58 Occasional (29-5%)
14 hemiparesis 58 Occasional (29-5%)
15 hemianopia 58 Occasional (29-5%)
16 functional motor deficit 58 Occasional (29-5%)
17 oculomotor nerve palsy 58 Occasional (29-5%)
18 focal motor seizure 58 Frequent (79-30%)
19 gliosis 58 Occasional (29-5%)
20 focal tonic seizures 58 Occasional (29-5%)
21 cranial asymmetry 58 Frequent (79-30%)
22 atonic seizure 58 Occasional (29-5%)
23 epileptic spasms 58 Occasional (29-5%)
24 abnormal neuron morphology 58 Occasional (29-5%)
25 eeg with polyspike wave complexes 58 Frequent (79-30%)
26 eeg with burst suppression 58 Frequent (79-30%)
27 hyperintensity of cerebral white matter on mri 58 Very frequent (99-80%)
28 eeg with focal sharp slow waves 58 Frequent (79-30%)
29 eeg with focal spikes 58 Frequent (79-30%)
30 focal cortical dysplasia 58 Frequent (79-30%)
31 interictal eeg abnormality 58 Very frequent (99-80%)
32 hemimegalencephaly 58 Frequent (79-30%)
33 hemihypsarrhythmia 58 Frequent (79-30%)

GenomeRNAi Phenotypes related to Hemimegalencephaly according to GeneCards Suite gene sharing:

26 (show top 50) (show all 56)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-106 10.85 AKT3
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 10.85 MTOR RHEB
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10.85 PIK3CA
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-126 10.85 CCND1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-152 10.85 PTEN
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-157 10.85 PIK3CA
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-16 10.85 MTOR PIK3CA RHEB CCND1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-163 10.85 CCND1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-166 10.85 PIK3CA
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 10.85 MTOR RHEB MYC
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-177 10.85 PIK3CA CCND1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 10.85 CCND1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-190 10.85 PIK3CA
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-199 10.85 CCND1
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 10.85 PIK3CA RHEB CCND1
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-25 10.85 CCND1
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-39 10.85 AKT3
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-42 10.85 MTOR PIK3CA RHEB
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-49 10.85 PIK3CA
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 10.85 MTOR PIK3CA CCND1
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-57 10.85 RHEB
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-66 10.85 RHEB
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-73 10.85 MTOR MYC
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 10.85 AKT3
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 10.85 CCND1
26 Decreased viability GR00055-A-1 10.22 MTOR PIK3CA
27 Decreased viability GR00055-A-2 10.22 MTOR PIK3CA
28 Decreased viability GR00221-A-1 10.22 AKT3 MTOR MYC PIK3CA RHEB
29 Decreased viability GR00221-A-2 10.22 AKT3 PIK3CA
30 Decreased viability GR00221-A-3 10.22 AKT3 MYC
31 Decreased viability GR00221-A-4 10.22 AKT3 MTOR PIK3CA
32 Decreased viability GR00249-S 10.22 MYC
33 Decreased viability GR00301-A 10.22 AKT3
34 Decreased viability GR00342-S-1 10.22 MTOR
35 Decreased viability GR00342-S-2 10.22 MTOR
36 Decreased viability GR00386-A-1 10.22 RHEB
37 Decreased viability GR00402-S-2 10.22 MYC PIK3CA
38 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.86 RHEB
39 Increased shRNA abundance (Z-score > 2) GR00366-A-134 9.86 CCND1
40 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.86 CCND1
41 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.86 SCN1A
42 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.86 SCN1A
43 Increased shRNA abundance (Z-score > 2) GR00366-A-191 9.86 SCN1A
44 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.86 CCND1
45 Increased shRNA abundance (Z-score > 2) GR00366-A-210 9.86 CCND1
46 Increased shRNA abundance (Z-score > 2) GR00366-A-211 9.86 CCND1
47 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.86 SCN1A
48 Increased shRNA abundance (Z-score > 2) GR00366-A-216 9.86 SCN1A
49 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.86 SCN1A
50 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.86 CCND1

MGI Mouse Phenotypes related to Hemimegalencephaly:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.23 AKT3 CCND1 CTNNB1 GFAP MAP2 MTOR
2 behavior/neurological MP:0005386 10.22 AKT3 CCND1 CTNNB1 GFAP MAP2 MTOR
3 cardiovascular system MP:0005385 10.21 AKT3 CCND1 CTNNB1 GFAP MTOR MYC
4 cellular MP:0005384 10.19 AKT3 CCND1 CTNNB1 GFAP MTOR MYC
5 endocrine/exocrine gland MP:0005379 10.18 AKT3 CCND1 CTNNB1 MAP2 MTOR MYC
6 homeostasis/metabolism MP:0005376 10.13 AKT3 CCND1 CTNNB1 GFAP MTOR MYC
7 mortality/aging MP:0010768 10.11 AKT3 CCND1 CTNNB1 GFAP MAP2 MTOR
8 immune system MP:0005387 10.06 AKT3 CCND1 CTNNB1 GFAP MTOR MYC
9 nervous system MP:0003631 9.9 AKT3 CCND1 CTNNB1 GFAP MAP2 MTOR
10 muscle MP:0005369 9.87 CTNNB1 GFAP MTOR MYC PIK3CA PTEN
11 neoplasm MP:0002006 9.73 AKT3 CCND1 CTNNB1 MYC PIK3CA PTEN
12 normal MP:0002873 9.61 AKT3 CCND1 CTNNB1 GFAP MTOR MYC
13 reproductive system MP:0005389 9.28 AKT3 CCND1 CTNNB1 MAP2 MYC PIK3CA

Drugs & Therapeutics for Hemimegalencephaly

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies Recruiting NCT02890641
2 Use of a Tonometer to Identify Focal Cortical Dysplasia and Tuberous Sclerosis Complex During Pediatric Epilepsy Surgery Recruiting NCT04344626

Search NIH Clinical Center for Hemimegalencephaly

Genetic Tests for Hemimegalencephaly

Genetic tests related to Hemimegalencephaly:

# Genetic test Affiliating Genes
1 Hemimegalencephaly 29

Anatomical Context for Hemimegalencephaly

MalaCards organs/tissues related to Hemimegalencephaly:

40
Brain, Cortex, Spinal Cord, Cerebellum, Fetal Brain, Temporal Lobe, Olfactory Bulb

Publications for Hemimegalencephaly

Articles related to Hemimegalencephaly:

(show top 50) (show all 509)
# Title Authors PMID Year
1
Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation. 6
31568861 2020
2
Ganglionic Eminence Anomalies and Coexisting Cerebral Developmental Anomalies on Fetal MR Imaging: Multicenter-Based Review of 60 Cases. 61
33707279 2021
3
Neuroimaging and genetic characteristics of malformation of cortical development due to mTOR pathway dysregulation: clues for the epileptogenic lesions and indications for epilepsy surgery. 61
33754929 2021
4
Hemimegalencephaly and intractable seizures associated with the NPRL3 gene variant in a newborn: A case report. 61
33749980 2021
5
Failed Hemispherotomy: Insights from Our Early Experience in 40 Patients. 61
33171323 2021
6
Gradient of brain mosaic RHEB variants causes a continuum of cortical dysplasia. 61
33434304 2021
7
Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome. 61
33639990 2021
8
Neurite Outgrowth Inhibitor (NogoA) Is Upregulated in White Matter Lesions of Complex Cortical Malformations. 61
33517425 2021
9
Hemimegalencephaly and tuberous sclerosis complex: A rare yet challenging association. 61
33387903 2021
10
The Putative Role of mTOR Inhibitors in Non-tuberous Sclerosis Complex-Related Epilepsy. 61
33643212 2021
11
Custom Pediatric Oncology Next-Generation Sequencing Panel Identifies Somatic Mosaicism in Archival Tissue and Enhances Targeted Clinical Care. 61
33221597 2021
12
A new case of Smith-Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth. 61
33506498 2021
13
Mosaic trisomy of chromosome 1q in human brain tissue associates with unilateral polymicrogyria, very early-onset focal epilepsy, and severe developmental delay. 61
32979071 2020
14
Structural MRI and tract-based spatial statistical analysis of diffusion tensor imaging in children with hemimegalencephaly. 61
32651620 2020
15
Hemispherotomy for Epilepsy: The Procedure Evolution and Outcome. 61
32998781 2020
16
Neurocutaneous melanocytosis (melanosis). 61
33048248 2020
17
Hemi-Hemimegalencephaly or Posterior Quadrantic Dysplasia, a Rare Cause of Focal Epilepsy in an Otherwise Healthy Young Woman: A Case Report. 61
32864276 2020
18
Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations. 61
32778138 2020
19
Maternal mosaicism underlies the inheritance of a rare germline AKT3 variant which is responsible for megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in two Roma half-siblings. 61
32446860 2020
20
Prenatal diagnosis of hemimegalencephaly revealing tuberous sclerosis complex. 61
31568608 2020
21
Minimizing blood loss in hemispherectomy for hemimegalencephaly in low-weight infants: technical note. 61
32055976 2020
22
Long-term outcomes after surgery for catastrophic epilepsy in infants: institutional experience and review of the literature. 61
32330892 2020
23
Measure thrice, cut twice: On the benefit of reoperation for failed pediatric epilepsy surgery. 61
32088518 2020
24
mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly. 61
32140648 2020
25
Posterior quadrant disconnection for sub-hemispheric drug refractory epilepsy. 61
32415002 2020
26
Phosphorylation of S6 Protein as a Potential Biomarker in Surgically Treated Refractory Epilepsy. 61
33706310 2020
27
A journey through formation and malformations of the neo-cortex. 61
31776716 2020
28
Dissecting the genetic basis of focal cortical dysplasia: a large cohort study. 61
31444548 2019
29
Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR. 61
31441589 2019
30
GATORopathies: The role of amino acid regulatory gene mutations in epilepsy and cortical malformations. 61
31625153 2019
31
Identification of a somatic mutation in the RHEB gene through high depth and ultra-high depth next generation sequencing in a patient with Hemimegalencephaly and drug resistant Epilepsy. 61
30414531 2019
32
PI3K/mTOR Pathway Inhibition: Opportunities in Oncology and Rare Genetic Diseases. 61
31752127 2019
33
Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy. 61
31411685 2019
34
Widespread frontal lobe cortical dysplasia or partial hemimegalencephaly: a continuum of the spectrum. 61
31617492 2019
35
New insights into a spectrum of developmental malformations related to mTOR dysregulations: challenges and perspectives. 61
30901081 2019
36
Imaging Findings of Klippel-Trenaunay Syndrome. 61
31609295 2019
37
Pathological mTOR mutations impact cortical development. 61
30789219 2019
38
Physical Growth of the Contralateral Cerebrum is Preserved After Hemispherotomy in Childhood. 61
30928301 2019
39
Posterior quadrantic dysplasia with localized hemimegalencephaly in a patient with giant congenital melanocytic nevus: First case report. 61
30794039 2019
40
Disrupted cortico-ponto-cerebellar pathway in patients with hemimegalencephaly. 61
30665821 2019
41
Inclusion of hemimegalencephaly into the phenotypic spectrum of NPRL3 pathogenic variants in familial focal epilepsy with variable foci. 61
31111464 2019
42
Oxidative stress and inflammation in a spectrum of epileptogenic cortical malformations: molecular insights into their interdependence. 61
30303592 2019
43
The role of somatic mutational events in the pathogenesis of epilepsy. 61
30762606 2019
44
Outcome after hemispherotomy in patients with intractable epilepsy: Comparison of techniques in the Italian experience. 61
30780077 2019
45
Late adult-onset epilepsy in a patient with hemimegalencephaly. 61
30977727 2019
46
Application of Automated Brain Segmentation and Fiber Tracking in Hemimegalencephaly. 61
30665473 2019
47
mTOR Inhibitors as a New Therapeutic Strategy in Treatment Resistant Epilepsy in Hemimegalencephaly: A Case Report. 61
30514132 2019
48
Evidence for Innate and Adaptive Immune Responses in a Cohort of Intractable Pediatric Epilepsy Surgery Patients. 61
30761153 2019
49
Malformations of Cerebral Cortex Development: Molecules and Mechanisms. 61
30677308 2019
50
The Space-Time Continuum of Cortical Dysplasia. 61
30838928 2019

Variations for Hemimegalencephaly

ClinVar genetic disease variations for Hemimegalencephaly:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PIK3CA NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met) SNV Pathogenic 376498 rs1057519942 GRCh37: 3:178921548-178921548
GRCh38: 3:179203760-179203760
2 MTOR NM_004958.4(MTOR):c.4447T>C (p.Cys1483Arg) SNV Pathogenic 374796 rs1057519914 GRCh37: 1:11217231-11217231
GRCh38: 1:11157174-11157174
3 overlap with 390 genes maternal UPD(16p) Complex Pathogenic 375693 GRCh37: 16:1280042-33710558
GRCh38:
4 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.3327dup (p.Ser1110fs) Duplication Pathogenic 599005 rs1559193213 GRCh37: 2:166892659-166892660
GRCh38: 2:166036149-166036150
5 RHEB NM_005614.4(RHEB):c.119A>T (p.Glu40Val) SNV Likely pathogenic 545666 rs1554438588 GRCh37: 7:151188034-151188034
GRCh38: 7:151490948-151490948
6 RPS6 NM_001010.3(RPS6):c.695G>A (p.Arg232His) SNV Uncertain significance 631553 rs748611445 GRCh37: 9:19376346-19376346
GRCh38: 9:19376348-19376348
7 PIK3CA NM_006218.4(PIK3CA):c.1059+12T>A SNV Uncertain significance 374062 rs200627037 GRCh37: 3:178921589-178921589
GRCh38: 3:179203801-179203801
8 GRIN1 NM_007327.4(GRIN1):c.1198-19G>C SNV Uncertain significance 523497 rs757759855 GRCh37: 9:140055489-140055489
GRCh38: 9:137161037-137161037

Expression for Hemimegalencephaly

Search GEO for disease gene expression data for Hemimegalencephaly.

Pathways for Hemimegalencephaly

Pathways related to Hemimegalencephaly according to GeneCards Suite gene sharing:

(show top 50) (show all 94)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.14 RPS6 RHEB PTEN PIK3CA MYC MTOR
2
Show member pathways
13.79 RHEB PTEN MYC MTOR CTNNB1 CCND1
3
Show member pathways
13.37 RPS6 RHEB PTEN PIK3CA MTOR AKT3
4
Show member pathways
13.08 RHEB PTEN PIK3CA MTOR CTNNB1 AKT3
5
Show member pathways
12.97 RHEB PIK3CA MYC MTOR CTNNB1 CCND1
6
Show member pathways
12.92 RPS6 RHEB PTEN PIK3CA MTOR AKT3
7
Show member pathways
12.91 PTEN PIK3CA CTNNB1 CCND1 AKT3
8
Show member pathways
12.87 RPS6 PTEN PIK3CA MTOR AKT3
9 12.86 PTEN PIK3CA MYC MTOR CTNNB1 CCND1
10
Show member pathways
12.86 RPS6 RHEB PTEN PIK3CA MYC MTOR
11
Show member pathways
12.83 RHEB PTEN PIK3CA MYC MTOR CTNNB1
12
Show member pathways
12.79 RPS6 PTEN PIK3CA MYC MTOR CCND1
13
Show member pathways
12.77 PTEN PIK3CA MYC MTOR CTNNB1 CCND1
14
Show member pathways
12.74 PTEN PIK3CA MTOR CTNNB1 AKT3
15
Show member pathways
12.72 PIK3CA MYC CTNNB1 AKT3
16
Show member pathways
12.71 PTEN PIK3CA MTOR AKT3
17
Show member pathways
12.71 PTEN PIK3CA MTOR CCND1 AKT3
18
Show member pathways
12.69 RHEB PIK3CA MTOR CTNNB1 CCND1 AKT3
19
Show member pathways
12.61 RPS6 PTEN PIK3CA MYC MTOR CCND1
20
Show member pathways
12.6 PTEN PIK3CA MTOR AKT3
21
Show member pathways
12.6 MYC MTOR CTNNB1 CCND1 AKT3
22
Show member pathways
12.59 PIK3CA MYC CTNNB1 AKT3
23 12.57 PTEN PIK3CA MYC MTOR CCND1
24
Show member pathways
12.56 RPS6 RHEB PTEN PIK3CA MTOR AKT3
25
Show member pathways
12.55 PTEN PIK3CA MYC MTOR CTNNB1 AKT3
26
Show member pathways
12.53 RHEB PTEN PIK3CA MTOR
27
Show member pathways
12.53 RPS6 RHEB PIK3CA MTOR CCND1 AKT3
28
Show member pathways
12.47 PTEN PIK3CA MTOR AKT3
29
Show member pathways
12.46 PIK3CA MTOR CTNNB1 AKT3
30
Show member pathways
12.45 PIK3CA MYC MTOR GFAP CCND1 AKT3
31
Show member pathways
12.45 RPS6 PTEN PIK3CA MYC MTOR CCND1
32 12.44 MYC CTNNB1 CCND1 AKT3
33
Show member pathways
12.43 RPS6 RHEB PIK3CA MTOR
34
Show member pathways
12.43 PTEN PIK3CA MYC AKT3
35
Show member pathways
12.42 RHEB PIK3CA MTOR AKT3
36 12.39 PTEN PIK3CA MYC CCND1 AKT3
37
Show member pathways
12.38 PIK3CA MYC CTNNB1 AKT3
38
Show member pathways
12.38 PIK3CA MYC CTNNB1 CCND1 AKT3
39
Show member pathways
12.34 RPS6 MTOR MAP2 AKT3
40
Show member pathways
12.33 PTEN PIK3CA MTOR CTNNB1 CCND1 AKT3
41
Show member pathways
12.25 PIK3CA MTOR CTNNB1 AKT3
42
Show member pathways
12.22 RHEB PIK3CA MTOR AKT3
43
Show member pathways
12.18 RHEB PIK3CA MTOR AKT3
44
Show member pathways
12.18 PTEN PIK3CA MYC AKT3
45 12.18 RPS6 PIK3CA MYC MTOR CTNNB1 CCND1
46 12.16 RHEB PTEN MYC MTOR CTNNB1 CCND1
47
Show member pathways
12.15 PIK3CA MTOR CTNNB1
48 12.15 PIK3CA MYC CTNNB1 AKT3
49 12.15 RHEB PTEN PIK3CA MTOR AKT3
50 12.14 MYC CTNNB1 CCND1

GO Terms for Hemimegalencephaly

Cellular components related to Hemimegalencephaly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 postsynaptic cytosol GO:0099524 9.16 PTEN MTOR
2 axon initial segment GO:0043194 8.96 SCN1A MAP2
3 intercalated disc GO:0014704 8.8 SCN1A PIK3CA CTNNB1

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 cell cycle arrest GO:0007050 9.69 RHEB MYC MTOR
2 cellular response to hypoxia GO:0071456 9.67 PTEN MYC MTOR
3 cardiac muscle tissue development GO:0048738 9.58 PTEN MTOR
4 positive regulation of oligodendrocyte differentiation GO:0048714 9.58 RHEB MTOR
5 response to estradiol GO:0032355 9.58 PTEN CTNNB1 CCND1
6 regulation of myelination GO:0031641 9.57 MTOR CTNNB1
7 positive regulation of mesenchymal cell proliferation GO:0002053 9.56 MYC CTNNB1
8 response to drug GO:0042493 9.56 PTEN MYC CTNNB1 CCND1
9 TOR signaling GO:0031929 9.55 RPS6 MTOR
10 positive regulation of glial cell proliferation GO:0060252 9.54 MTOR GFAP
11 G1/S transition of mitotic cell cycle GO:0000082 9.54 RPS6 MYC CCND1
12 regulation of protein kinase B signaling GO:0051896 9.52 PTEN MTOR
13 regulation of osteoclast differentiation GO:0045670 9.48 MTOR CTNNB1
14 negative regulation of macroautophagy GO:0016242 9.46 PIK3CA MTOR
15 energy reserve metabolic process GO:0006112 9.43 MYC MTOR
16 positive regulation of cell proliferation GO:0008284 9.35 RPS6 PTEN MYC CTNNB1 CCND1
17 anoikis GO:0043276 9.32 PIK3CA MTOR
18 negative regulation of cell size GO:0045792 9.16 PTEN MTOR
19 positive regulation of TOR signaling GO:0032008 8.8 RHEB PIK3CA AKT3

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

# Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 9.1 RPS6 RHEB PTEN MTOR CTNNB1 CCND1

Sources for Hemimegalencephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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