MCID: MGL035
MIFTS: 22

Megalencephaly, Autosomal Dominant

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Megalencephaly, Autosomal Dominant

MalaCards integrated aliases for Megalencephaly, Autosomal Dominant:

Name: Megalencephaly, Autosomal Dominant 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
megalencephaly, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 155350

Summaries for Megalencephaly, Autosomal Dominant

OMIM® : 57 Primary megalencephaly is defined as a head circumference about the 98th percentile that most likely is due to brain enlargement and is not secondary to disease (review by Petersson et al., 1999). (155350) (Updated 20-May-2021)

MalaCards based summary : Megalencephaly, Autosomal Dominant is related to myoclonic epilepsy of infancy and genetic epilepsy with febrile seizures plus. An important gene associated with Megalencephaly, Autosomal Dominant is LOC102724058 (Uncharacterized LOC102724058). Related phenotypes are megalencephaly and intellectual disability

Related Diseases for Megalencephaly, Autosomal Dominant

Diseases in the Megalencephaly family:

Megalencephaly, Autosomal Dominant

Diseases related to Megalencephaly, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 myoclonic epilepsy of infancy 9.9 SCN1A LOC102724058
2 genetic epilepsy with febrile seizures plus 9.9 SCN1A LOC102724058
3 febrile seizures 9.9 SCN1A LOC102724058
4 scn1a seizure disorders 9.9 SCN1A LOC102724058
5 seizure disorder 9.9 SCN1A LOC102724058
6 plagiocephaly 9.9 SCN1A LOC102724058
7 generalized epilepsy with febrile seizures plus, type 1 9.9 SCN1A LOC102724058
8 generalized epilepsy with febrile seizures plus 9.9 SCN1A LOC102724058
9 generalized epilepsy with febrile seizures plus, type 2 9.9 SCN1A LOC102724058
10 neuronal migration disorders 9.9 SCN1A LOC102724058
11 generalized epilepsy with febrile seizures plus, type 7 9.9 SCN1A LOC102724058
12 migraine, familial hemiplegic, 3 9.9 SCN1A LOC102724058
13 malignant migrating partial seizures of infancy 9.9 SCN1A LOC102724058
14 leukoencephalopathy, hereditary diffuse, with spheroids 9.9 SCN1A LOC102724058
15 familial hemiplegic migraine 9.8 SCN1A LOC102724058
16 familial or sporadic hemiplegic migraine 9.8 SCN1A LOC102724058
17 focal epilepsy 9.8 SCN1A LOC102724058
18 dravet syndrome 9.8 SCN1A LOC102724058
19 sturge-weber syndrome 9.8 SCN1A PIK3CA
20 benign epilepsy with centrotemporal spikes 9.7 SCN1A LOC102724058
21 west syndrome 9.7 SCN1A LOC102724058
22 early infantile epileptic encephalopathy 9.6 SCN1A LOC102724058
23 megalencephaly 9.5 SCN1A PIK3CA LOC102724058
24 hemimegalencephaly 9.5 SCN1A PIK3CA LOC102724058
25 polymicrogyria 9.5 SCN1A PIK3CA LOC102724058
26 hypertelorism 9.5 SCN1A PIK3CA LOC102724058

Graphical network of the top 20 diseases related to Megalencephaly, Autosomal Dominant:



Diseases related to Megalencephaly, Autosomal Dominant

Symptoms & Phenotypes for Megalencephaly, Autosomal Dominant

Human phenotypes related to Megalencephaly, Autosomal Dominant:

31
# Description HPO Frequency HPO Source Accession
1 megalencephaly 31 obligate (100%) HP:0001355
2 intellectual disability 31 very rare (1%) HP:0001249
3 hydrocephalus 31 very rare (1%) HP:0000238
4 macrocephaly 31 HP:0000256

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neuro:
megalencephaly

Misc:
mental retardation
predominantl males

Clinical features from OMIM®:

155350 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Megalencephaly, Autosomal Dominant according to GeneCards Suite gene sharing:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization GR00242-A-1 9.56 PIK3CA SCN1A
2 Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization GR00242-A-2 9.56 PIK3CA SCN1A
3 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.23 SCN1A
4 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.23 SCN1A
5 Increased shRNA abundance (Z-score > 2) GR00366-A-191 9.23 SCN1A
6 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.23 SCN1A
7 Increased shRNA abundance (Z-score > 2) GR00366-A-216 9.23 SCN1A
8 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.23 SCN1A
9 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.23 PIK3CA
10 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.23 SCN1A
11 Decreased mitophagy mCherry-Parkin protein expression after carbonyl cyanide m-chlorphenylhydrazone (CCCP) stimulation GR00242-A-4 9.16 PIK3CA SCN1A

Drugs & Therapeutics for Megalencephaly, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Megalencephaly, Autosomal Dominant

Genetic Tests for Megalencephaly, Autosomal Dominant

Anatomical Context for Megalencephaly, Autosomal Dominant

Publications for Megalencephaly, Autosomal Dominant

Articles related to Megalencephaly, Autosomal Dominant:

# 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
Primary megalencephaly at birth and low intelligence level. 57
10522881 1999
3
Mental retardation, macrocephaly, short stature and craniofacial dysmorphism in three sisters. A new entity among the mental retardation-macrocephaly syndromes? 57
3359686 1988
4
Children with large heads: a practical approach to diagnosis in 557 children, with special reference to 109 children with megalencephaly. 57
7274594 1981
5
Familial megalencephaly or hydrocephalus? 57
4855950 1974

Variations for Megalencephaly, Autosomal Dominant

ClinVar genetic disease variations for Megalencephaly, Autosomal Dominant:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.3327dup (p.Ser1110fs) Duplication Pathogenic 599005 rs1559193213 GRCh37: 2:166892659-166892660
GRCh38: 2:166036149-166036150
2 PIK3CA NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met) SNV Pathogenic 376498 rs1057519942 GRCh37: 3:178921548-178921548
GRCh38: 3:179203760-179203760

Expression for Megalencephaly, Autosomal Dominant

Search GEO for disease gene expression data for Megalencephaly, Autosomal Dominant.

Pathways for Megalencephaly, Autosomal Dominant

GO Terms for Megalencephaly, Autosomal Dominant

Cellular components related to Megalencephaly, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intercalated disc GO:0014704 8.62 SCN1A PIK3CA

Sources for Megalencephaly, Autosomal Dominant

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....