NEDSGA
MCID: NRD043
MIFTS: 17

Neurodevelopmental Disorder with or Without Seizures and Gait Abnormalities (NEDSGA)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with or Without Seizures and Gait...

MalaCards integrated aliases for Neurodevelopmental Disorder with or Without Seizures and Gait Abnormalities:

Name: Neurodevelopmental Disorder with or Without Seizures and Gait Abnormalities 58 76 6
Nedsga 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
onset at birth or in early infancy
highly variable severity
five unrelated patients have been reported (last curated february 2018)
patient a is a 21-year-old man with the most severe phenotype


HPO:

33
neurodevelopmental disorder with or without seizures and gait abnormalities:
Onset and clinical course variable expressivity


Classifications:



Summaries for Neurodevelopmental Disorder with or Without Seizures and Gait...

OMIM : 58 NEDSGA is an autosomal dominant disorder characterized by global developmental delay apparent from infancy or early childhood, resulting in variable intellectual disability that can range from profound with absent speech to mild with an ability to attend special schools. Most affected individuals show irritability, stiffness, and hypertonia early in life, which progresses to spasticity and impaired gait later. Some patients may develop seizures of variable severity early in life (summary by Martin et al., 2017). (617864)

MalaCards based summary : Neurodevelopmental Disorder with or Without Seizures and Gait Abnormalities, is also known as nedsga. An important gene associated with Neurodevelopmental Disorder with or Without Seizures and Gait Abnormalities is GRIA4 (Glutamate Ionotropic Receptor AMPA Type Subunit 4). Related phenotypes are optic nerve hypoplasia and status epilepticus

UniProtKB/Swiss-Prot : 76 Neurodevelopmental disorder with or without seizures and gait abnormalities: An autosomal dominant neurodevelopmental disorder characterized by global developmental delay apparent from infancy or early childhood, mild to profound intellectual disability, hypertonia early in life, which progresses to spasticity and impaired gait later, and behavioral abnormalities. Some patients may develop seizures of variable severity early in life.

Related Diseases for Neurodevelopmental Disorder with or Without Seizures and Gait...

Symptoms & Phenotypes for Neurodevelopmental Disorder with or Without Seizures and Gait...

Human phenotypes related to Neurodevelopmental Disorder with or Without Seizures and Gait Abnormalities:

33 (show all 16)
# Description HPO Frequency HPO Source Accession
1 optic nerve hypoplasia 33 very rare (1%) HP:0000609
2 status epilepticus 33 very rare (1%) HP:0002133
3 nystagmus 33 HP:0000639
4 intellectual disability 33 HP:0001249
5 chorea 33 HP:0002072
6 global developmental delay 33 HP:0001263
7 neonatal hypotonia 33 HP:0001319
8 spastic tetraplegia 33 HP:0002510
9 irritability 33 HP:0000737
10 strabismus 33 HP:0000486
11 absent speech 33 HP:0001344
12 attention deficit hyperactivity disorder 33 HP:0007018
13 inability to walk 33 HP:0002540
14 cerebral cortical atrophy 33 HP:0002120
15 hypoplasia of the corpus callosum 33 HP:0002079
16 delayed ability to walk 33 HP:0031936

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
spasticity
delayed walking
poor or absent speech
clumsy gait
global developmental delay, variable severity
more
Muscle Soft Tissue:
hypotonia, neonatal
hypertonia, neonatal

Abdomen Gastrointestinal:
feeding difficulties (patient a)

Head And Neck Eyes:
nystagmus (patient a)
optic nerve hypoplasia (1 patient)
strabismus (patient a)

Skeletal:
contractures (patient a)

Head And Neck Ears:
large ears

Neurologic Behavioral Psychiatric Manifestations:
attention deficit
behavioral abnormalities
stereotypic hand movements

Head And Neck Head:
microcephaly (patient a)

Growth Other:
failure to thrive (patient a)

Growth Height:
short stature (patient a)

Clinical features from OMIM:

617864

Drugs & Therapeutics for Neurodevelopmental Disorder with or Without Seizures and Gait...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with or Without Seizures and Gait Abnormalities

Genetic Tests for Neurodevelopmental Disorder with or Without Seizures and Gait...

Anatomical Context for Neurodevelopmental Disorder with or Without Seizures and Gait...

Publications for Neurodevelopmental Disorder with or Without Seizures and Gait...

Variations for Neurodevelopmental Disorder with or Without Seizures and Gait...

UniProtKB/Swiss-Prot genetic disease variations for Neurodevelopmental Disorder with or Without Seizures and Gait Abnormalities:

76
# Symbol AA change Variation ID SNP ID
1 GRIA4 p.Thr639Ser VAR_080751
2 GRIA4 p.Asn641Asp VAR_080752
3 GRIA4 p.Ala643Gly VAR_080753
4 GRIA4 p.Ala644Val VAR_080754

ClinVar genetic disease variations for Neurodevelopmental Disorder with or Without Seizures and Gait Abnormalities:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GRIA4 NM_000829.3(GRIA4): c.1915A> T (p.Thr639Ser) single nucleotide variant Pathogenic/Likely pathogenic rs1555050158 GRCh38 Chromosome 11, 105926808: 105926808
2 GRIA4 NM_000829.3(GRIA4): c.1915A> T (p.Thr639Ser) single nucleotide variant Pathogenic/Likely pathogenic rs1555050158 GRCh37 Chromosome 11, 105797534: 105797534
3 GRIA4 NM_000829.3(GRIA4): c.1921A> G (p.Asn641Asp) single nucleotide variant Likely pathogenic rs1555050165 GRCh38 Chromosome 11, 105926814: 105926814
4 GRIA4 NM_000829.3(GRIA4): c.1921A> G (p.Asn641Asp) single nucleotide variant Likely pathogenic rs1555050165 GRCh37 Chromosome 11, 105797540: 105797540
5 GRIA4 NM_000829.3(GRIA4): c.1928C> G (p.Ala643Gly) single nucleotide variant Pathogenic/Likely pathogenic rs1555050171 GRCh37 Chromosome 11, 105797547: 105797547
6 GRIA4 NM_000829.3(GRIA4): c.1928C> G (p.Ala643Gly) single nucleotide variant Pathogenic/Likely pathogenic rs1555050171 GRCh38 Chromosome 11, 105926821: 105926821
7 GRIA4 NM_000829.3(GRIA4): c.1931C> T (p.Ala644Val) single nucleotide variant Pathogenic/Likely pathogenic rs1555050174 GRCh37 Chromosome 11, 105797550: 105797550
8 GRIA4 NM_000829.3(GRIA4): c.1931C> T (p.Ala644Val) single nucleotide variant Pathogenic/Likely pathogenic rs1555050174 GRCh38 Chromosome 11, 105926824: 105926824
9 GRIA4 NM_000829.3(GRIA4): c.2090G> C (p.Arg697Pro) single nucleotide variant Pathogenic/Likely pathogenic rs765556214 GRCh37 Chromosome 11, 105804491: 105804491
10 GRIA4 NM_000829.3(GRIA4): c.2090G> C (p.Arg697Pro) single nucleotide variant Pathogenic/Likely pathogenic rs765556214 GRCh38 Chromosome 11, 105933765: 105933765

Expression for Neurodevelopmental Disorder with or Without Seizures and Gait...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with or Without Seizures and Gait Abnormalities.

Pathways for Neurodevelopmental Disorder with or Without Seizures and Gait...

GO Terms for Neurodevelopmental Disorder with or Without Seizures and Gait...

Sources for Neurodevelopmental Disorder with or Without Seizures and Gait...

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
Content
Loading form....