MCID: MGL035
MIFTS: 13

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 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
megalencephaly, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 155350

Summaries for Megalencephaly, Autosomal Dominant

OMIM : 58 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)

MalaCards based summary : Megalencephaly, Autosomal Dominant An important gene associated with Megalencephaly, Autosomal Dominant is SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1). Affiliated tissues include brain, and related phenotypes are megalencephaly and hydrocephalus

Related Diseases for Megalencephaly, Autosomal Dominant

Diseases in the Megalencephaly family:

Megalencephaly, Autosomal Dominant

Symptoms & Phenotypes for Megalencephaly, Autosomal Dominant

Human phenotypes related to Megalencephaly, Autosomal Dominant:

33
# Description HPO Frequency HPO Source Accession
1 megalencephaly 33 obligate (100%) HP:0001355
2 hydrocephalus 33 very rare (1%) HP:0000238
3 intellectual disability 33 very rare (1%) HP:0001249
4 macrocephaly 33 HP:0000256

Symptoms via clinical synopsis from OMIM:

58
Neuro:
megalencephaly

Misc:
mental retardation
predominantl males

Clinical features from OMIM:

155350

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

MalaCards organs/tissues related to Megalencephaly, Autosomal Dominant:

42
Brain

Publications for Megalencephaly, Autosomal Dominant

Variations for Megalencephaly, Autosomal Dominant

ClinVar genetic disease variations for Megalencephaly, Autosomal Dominant:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN1A NM_001202435.2(SCN1A): c.3327dup (p.Ser1110Glnfs) duplication Pathogenic GRCh37 Chromosome 2, 166892659: 166892660
2 SCN1A NM_001202435.2(SCN1A): c.3327dup (p.Ser1110Glnfs) duplication Pathogenic GRCh38 Chromosome 2, 166036150: 166036150

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

Sources for Megalencephaly, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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