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 57 75 6
Nedsga 57 75

Characteristics:

OMIM:

57
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:

32
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 : 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)

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 nystagmus and intellectual disability

UniProtKB/Swiss-Prot : 75 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...

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 intellectual disability 32 HP:0001249
3 chorea 32 HP:0002072
4 global developmental delay 32 HP:0001263
5 neonatal hypotonia 32 HP:0001319
6 spastic tetraplegia 32 HP:0002510
7 irritability 32 HP:0000737
8 strabismus 32 HP:0000486
9 absent speech 32 HP:0001344
10 attention deficit hyperactivity disorder 32 HP:0007018
11 inability to walk 32 HP:0002540
12 cerebral cortical atrophy 32 HP:0002120
13 optic nerve hypoplasia 32 very rare (1%) HP:0000609
14 status epilepticus 32 very rare (1%) HP:0002133
15 hypoplasia of the corpus callosum 32 HP:0002079
16 delayed ability to walk 32 HP:0031936

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:

75
# 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 GRCh38 Chromosome 11, 105926808: 105926808
2 GRIA4 NM_000829.3(GRIA4): c.1915A> T (p.Thr639Ser) single nucleotide variant Pathogenic/Likely pathogenic GRCh37 Chromosome 11, 105797534: 105797534
3 GRIA4 NM_000829.3(GRIA4): c.1921A> G (p.Asn641Asp) single nucleotide variant Likely pathogenic GRCh38 Chromosome 11, 105926814: 105926814
4 GRIA4 NM_000829.3(GRIA4): c.1921A> G (p.Asn641Asp) single nucleotide variant Likely pathogenic GRCh37 Chromosome 11, 105797540: 105797540
5 GRIA4 NM_000829.3(GRIA4): c.1928C> G (p.Ala643Gly) single nucleotide variant Pathogenic/Likely pathogenic GRCh37 Chromosome 11, 105797547: 105797547
6 GRIA4 NM_000829.3(GRIA4): c.1928C> G (p.Ala643Gly) single nucleotide variant Pathogenic/Likely pathogenic GRCh38 Chromosome 11, 105926821: 105926821
7 GRIA4 NM_000829.3(GRIA4): c.1931C> T (p.Ala644Val) single nucleotide variant Pathogenic/Likely pathogenic GRCh37 Chromosome 11, 105797550: 105797550
8 GRIA4 NM_000829.3(GRIA4): c.1931C> T (p.Ala644Val) single nucleotide variant Pathogenic/Likely pathogenic 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...

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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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