NEDAMSS
MCID: NRD054
MIFTS: 20

Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures (NEDAMSS)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Regression, Abnormal Movements,...

MalaCards integrated aliases for Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures:

Name: Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures 58 76 6
Nedamss 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
de novo mutation
onset in infancy or childhood


HPO:

33
neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures:
Onset and clinical course progressive


Classifications:



Summaries for Neurodevelopmental Disorder with Regression, Abnormal Movements,...

UniProtKB/Swiss-Prot : 76 Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures: An autosomal dominant disorder characterized by global developmental delay or neurodevelopmental regression, hypotonia, progressive ataxia, intellectual disability, seizures, and abnormal movements.

MalaCards based summary : Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures, also known as nedamss, is related to irf2bpl-related disorders. An important gene associated with Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures is IRF2BPL (Interferon Regulatory Factor 2 Binding Protein Like). Affiliated tissues include brain and eye, and related phenotypes are nystagmus and intellectual disability

Description from OMIM: 618088

Related Diseases for Neurodevelopmental Disorder with Regression, Abnormal Movements,...

Diseases related to Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 irf2bpl-related disorders 11.8

Symptoms & Phenotypes for Neurodevelopmental Disorder with Regression, Abnormal Movements,...

Human phenotypes related to Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures:

33 (show all 16)
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 HP:0000639
2 intellectual disability 33 HP:0001249
3 seizures 33 HP:0001250
4 spasticity 33 HP:0001257
5 dysarthria 33 HP:0001260
6 dysphagia 33 HP:0002015
7 developmental regression 33 HP:0002376
8 global developmental delay 33 HP:0001263
9 dysmetria 33 HP:0001310
10 dystonia 33 HP:0001332
11 choreoathetosis 33 HP:0001266
12 cerebellar atrophy 33 HP:0001272
13 corpus callosum atrophy 33 HP:0007371
14 cerebral atrophy 33 HP:0002059
15 esotropia 33 HP:0000565
16 loss of speech 33 HP:0002371

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
esotropia
gaze palsies
eye movement abnormalities (in some patients)
decreased saccades

Muscle Soft Tissue:
hypotonia

Neurologic Central Nervous System:
ataxia
spasticity
dysarthria
dysphagia
dysmetria
more
Head And Neck Face:
facial weakness

Clinical features from OMIM:

618088

Drugs & Therapeutics for Neurodevelopmental Disorder with Regression, Abnormal Movements,...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures

Genetic Tests for Neurodevelopmental Disorder with Regression, Abnormal Movements,...

Anatomical Context for Neurodevelopmental Disorder with Regression, Abnormal Movements,...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures:

42
Brain, Eye

Publications for Neurodevelopmental Disorder with Regression, Abnormal Movements,...

Articles related to Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures:

# Title Authors Year
1
De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy. ( 30166628 )
2019
2
IRF2BPL Is Associated with Neurological Phenotypes. ( 30057031 )
2018

Variations for Neurodevelopmental Disorder with Regression, Abnormal Movements,...

UniProtKB/Swiss-Prot genetic disease variations for Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures:

76
# Symbol AA change Variation ID SNP ID
1 IRF2BPL p.Lys418Asn VAR_081421

ClinVar genetic disease variations for Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures:

6 (show all 13)
# Gene Variation Type Significance SNP ID Assembly Location
1 IRF2BPL NM_024496.3(IRF2BPL): c.562C> T (p.Arg188Ter) single nucleotide variant Likely pathogenic rs1345176461 GRCh38 Chromosome 14, 77027231: 77027231
2 IRF2BPL NM_024496.3(IRF2BPL): c.562C> T (p.Arg188Ter) single nucleotide variant Likely pathogenic rs1345176461 GRCh37 Chromosome 14, 77493574: 77493574
3 IRF2BPL NM_024496.3(IRF2BPL): c.379C> T (p.Gln127Ter) single nucleotide variant Pathogenic rs1292724234 GRCh38 Chromosome 14, 77027414: 77027414
4 IRF2BPL NM_024496.3(IRF2BPL): c.379C> T (p.Gln127Ter) single nucleotide variant Pathogenic rs1292724234 GRCh37 Chromosome 14, 77493757: 77493757
5 IRF2BPL NM_024496.3(IRF2BPL): c.376C> T (p.Gln126Ter) single nucleotide variant Pathogenic rs1555377483 GRCh38 Chromosome 14, 77027417: 77027417
6 IRF2BPL NM_024496.3(IRF2BPL): c.376C> T (p.Gln126Ter) single nucleotide variant Pathogenic rs1555377483 GRCh37 Chromosome 14, 77493760: 77493760
7 IRF2BPL NM_024496.3(IRF2BPL): c.1115C> G (p.Pro372Arg) single nucleotide variant Pathogenic rs1555377336 GRCh38 Chromosome 14, 77026678: 77026678
8 IRF2BPL NM_024496.3(IRF2BPL): c.1115C> G (p.Pro372Arg) single nucleotide variant Pathogenic rs1555377336 GRCh37 Chromosome 14, 77493021: 77493021
9 IRF2BPL NM_024496.3(IRF2BPL): c.1254G> C (p.Lys418Asn) single nucleotide variant Pathogenic rs201073695 GRCh38 Chromosome 14, 77026539: 77026539
10 IRF2BPL NM_024496.3(IRF2BPL): c.1254G> C (p.Lys418Asn) single nucleotide variant Pathogenic rs201073695 GRCh37 Chromosome 14, 77492882: 77492882
11 IRF2BPL NC_000014.9: g.77026831del deletion Pathogenic GRCh38 Chromosome 14, 77026831: 77026831
12 IRF2BPL NC_000014.9: g.77026831del deletion Pathogenic GRCh37 Chromosome 14, 77493174: 77493174
13 IRF2BPL IRF2BPL, 2-BP DEL, 2135GT deletion Pathogenic

Expression for Neurodevelopmental Disorder with Regression, Abnormal Movements,...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures.

Pathways for Neurodevelopmental Disorder with Regression, Abnormal Movements,...

GO Terms for Neurodevelopmental Disorder with Regression, Abnormal Movements,...

Sources for Neurodevelopmental Disorder with Regression, Abnormal Movements,...

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63 PubMed
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70 SNOMED-CT via HPO
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72 TGDB
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75 UMLS via Orphanet
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