NEDSGA
MCID: NRD043
MIFTS: 21

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 57 72 29 6
Nedsga 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

31
neurodevelopmental disorder with or without seizures and gait abnormalities:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


Classifications:



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

OMIM® : 57 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) (Updated 20-May-2021)

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 status epilepticus and optic nerve hypoplasia

UniProtKB/Swiss-Prot : 72 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:

31 (show all 22)
# Description HPO Frequency HPO Source Accession
1 status epilepticus 31 very rare (1%) HP:0002133
2 optic nerve hypoplasia 31 very rare (1%) HP:0000609
3 intellectual disability 31 HP:0001249
4 failure to thrive 31 HP:0001508
5 nystagmus 31 HP:0000639
6 chorea 31 HP:0002072
7 global developmental delay 31 HP:0001263
8 macrotia 31 HP:0000400
9 microcephaly 31 HP:0000252
10 neonatal hypotonia 31 HP:0001319
11 short stature 31 HP:0004322
12 flexion contracture 31 HP:0001371
13 spastic tetraplegia 31 HP:0002510
14 strabismus 31 HP:0000486
15 absent speech 31 HP:0001344
16 attention deficit hyperactivity disorder 31 HP:0007018
17 irritability 31 HP:0000737
18 cerebral cortical atrophy 31 HP:0002120
19 hypoplasia of the corpus callosum 31 HP:0002079
20 feeding difficulties 31 HP:0011968
21 inability to walk 31 HP:0002540
22 delayed ability to walk 31 HP:0031936

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
spasticity
delayed walking
poor or absent speech
global developmental delay, variable severity
clumsy gait
more
Head And Neck Ears:
large ears

Abdomen Gastrointestinal:
feeding difficulties (patient a)

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

Growth Height:
short stature (patient a)

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

Muscle Soft Tissue:
hypotonia, neonatal
hypertonia, neonatal

Head And Neck Head:
microcephaly (patient a)

Growth Other:
failure to thrive (patient a)

Skeletal:
contractures (patient a)

Clinical features from OMIM®:

617864 (Updated 20-May-2021)

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...

Genetic tests related to Neurodevelopmental Disorder with or Without Seizures and Gait Abnormalities:

# Genetic test Affiliating Genes
1 Neurodevelopmental Disorder with or Without Seizures and Gait Abnormalities 29 GRIA4

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

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

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

# Title Authors PMID Year
1
De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities. 6 57
29220673 2017

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

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GRIA4 NM_000829.4(GRIA4):c.1921A>G (p.Asn641Asp) SNV Pathogenic 446207 rs1555050165 GRCh37: 11:105797540-105797540
GRCh38: 11:105926814-105926814
2 GRIA4 NM_000829.4(GRIA4):c.1928C>G (p.Ala643Gly) SNV Pathogenic 446208 rs1555050171 GRCh37: 11:105797547-105797547
GRCh38: 11:105926821-105926821
3 GRIA4 NM_000829.4(GRIA4):c.1931C>T (p.Ala644Val) SNV Pathogenic 446209 rs1555050174 GRCh37: 11:105797550-105797550
GRCh38: 11:105926824-105926824
4 GRIA4 NM_000829.4(GRIA4):c.1915A>T (p.Thr639Ser) SNV Pathogenic 446206 rs1555050158 GRCh37: 11:105797534-105797534
GRCh38: 11:105926808-105926808
5 GRIA4 NM_000829.4(GRIA4):c.2090G>C (p.Arg697Pro) SNV Likely pathogenic 446210 rs765556214 GRCh37: 11:105804491-105804491
GRCh38: 11:105933765-105933765
6 GRIA4 NM_000829.4(GRIA4):c.2615G>A (p.Arg872His) SNV Uncertain significance 974624 GRCh37: 11:105850372-105850372
GRCh38: 11:105979645-105979645
7 GRIA4 NM_000829.4(GRIA4):c.70C>T (p.Pro24Ser) SNV Uncertain significance 976290 GRCh37: 11:105481794-105481794
GRCh38: 11:105611067-105611067
8 GRIA4 NM_000829.4(GRIA4):c.276T>A (p.Phe92Leu) SNV Uncertain significance 1031667 GRCh37: 11:105623735-105623735
GRCh38: 11:105753009-105753009

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

72
# Symbol AA change Variation ID SNP ID
1 GRIA4 p.Thr639Ser VAR_080751 rs155505015
2 GRIA4 p.Asn641Asp VAR_080752 rs155505016
3 GRIA4 p.Ala643Gly VAR_080753 rs155505017
4 GRIA4 p.Ala644Val VAR_080754 rs155505017

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
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....