NEDAMSS
MCID: NRD054
MIFTS: 25

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

Categories: Genetic diseases, Neuronal diseases, Rare 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 57 20 72 29 6 39
Nedamss 57 20 72
Irf2bpl-Related Disorders 20

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

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


HPO:

31
neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive


Classifications:



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

GARD : 20 IRF2BPL- related disorders are a group of very rare neurodegenerative disorders with neurological symptoms that generally get worse over time. People with these disorders commonly have normal initial development followed by regression and loss of skills. Symptoms include loss of motor skills (like walking and crawling), loss of speech, abnormal movements, and seizures. These disorders are caused by genetic changes ( mutations ) of the interferon regulatory factor 2 binding-like ( IRF2BPL ) gene, which occur for the first time in the affected person. IRF2BPL- related disorders have been diagnosed through a genetic test known as exome sequencing. There is no treatment for these disorders. Medication and supportive care can help with some of the symptoms. The long-term outlook for people with these disorders is unknown.

MalaCards based summary : Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures, is also known as nedamss. 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 eye and brain, and related phenotypes are intellectual disability and spasticity

UniProtKB/Swiss-Prot : 72 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.

More information from OMIM: 618088

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

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

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

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 spasticity 31 HP:0001257
3 nystagmus 31 HP:0000639
4 dysarthria 31 HP:0001260
5 dysphagia 31 HP:0002015
6 developmental regression 31 HP:0002376
7 global developmental delay 31 HP:0001263
8 dysmetria 31 HP:0001310
9 dystonia 31 HP:0001332
10 cerebellar atrophy 31 HP:0001272
11 choreoathetosis 31 HP:0001266
12 cerebral atrophy 31 HP:0002059
13 generalized hypotonia 31 HP:0001290
14 loss of speech 31 HP:0002371
15 esotropia 31 HP:0000565
16 corpus callosum atrophy 31 HP:0007371
17 weakness of facial musculature 31 HP:0030319
18 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
spasticity
ataxia
dysarthria
dysphagia
dysmetria
more
Muscle Soft Tissue:
hypotonia

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

Head And Neck Face:
facial weakness

Clinical features from OMIM®:

618088 (Updated 20-May-2021)

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Database Of Clinical Data For Individuals With Variants In The IRF2BPL Gene Recruiting NCT03892798

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

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

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

# Genetic test Affiliating Genes
1 Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures 29 IRF2BPL

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:

40
Eye, Brain

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

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

# Title Authors PMID Year
1
De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy. 20 57 6
30166628 2019
2
IRF2BPL Is Associated with Neurological Phenotypes. 57 6
30057031 2018

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

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

6 (show all 23)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IRF2BPL NM_024496.4(IRF2BPL):c.562C>T (p.Arg188Ter) SNV Pathogenic 559608 rs1345176461 GRCh37: 14:77493574-77493574
GRCh38: 14:77027231-77027231
2 IRF2BPL NM_024496.4(IRF2BPL):c.379C>T (p.Gln127Ter) SNV Pathogenic 559609 rs1292724234 GRCh37: 14:77493757-77493757
GRCh38: 14:77027414-77027414
3 IRF2BPL NM_024496.4(IRF2BPL):c.376C>T (p.Gln126Ter) SNV Pathogenic 559610 rs1555377483 GRCh37: 14:77493760-77493760
GRCh38: 14:77027417-77027417
4 IRF2BPL NM_024496.4(IRF2BPL):c.1115C>G (p.Pro372Arg) SNV Pathogenic 559611 rs1555377336 GRCh37: 14:77493021-77493021
GRCh38: 14:77026678-77026678
5 IRF2BPL NM_024496.4(IRF2BPL):c.1254G>C (p.Lys418Asn) SNV Pathogenic 559612 rs201073695 GRCh37: 14:77492882-77492882
GRCh38: 14:77026539-77026539
6 IRF2BPL NM_024496.4(IRF2BPL):c.962del (p.Ala321fs) Deletion Pathogenic 599202 rs1566786207 GRCh37: 14:77493174-77493174
GRCh38: 14:77026831-77026831
7 IRF2BPL IRF2BPL, 2-BP DEL, 2135GT Deletion Pathogenic 599203 GRCh37:
GRCh38:
8 IRF2BPL NM_024496.4(IRF2BPL):c.599_608del (p.Pro200fs) Deletion Pathogenic 803038 rs1594797739 GRCh37: 14:77493528-77493537
GRCh38: 14:77027185-77027194
9 IRF2BPL NM_024496.4(IRF2BPL):c.2135_2136insGT (p.Leu713fs) Insertion Pathogenic 976702 GRCh37: 14:77492000-77492001
GRCh38: 14:77025657-77025658
10 IRF2BPL NM_024496.4(IRF2BPL):c.248_293delinsCCCGG (p.Leu83fs) Indel Pathogenic 976859 GRCh37: 14:77493843-77493888
GRCh38: 14:77027500-77027545
11 IRF2BPL NM_024496.4(IRF2BPL):c.499C>T (p.Gln167Ter) SNV Pathogenic 620458 rs1566786613 GRCh37: 14:77493637-77493637
GRCh38: 14:77027294-77027294
12 IRF2BPL NM_024496.4(IRF2BPL):c.1703_1706dup (p.Trp569Ter) Duplication Pathogenic 1047929 GRCh37: 14:77492429-77492430
GRCh38: 14:77026086-77026087
13 IRF2BPL NM_024496.4(IRF2BPL):c.240_243del (p.Val81fs) Deletion Likely pathogenic 986391 GRCh37: 14:77493893-77493896
GRCh38: 14:77027550-77027553
14 IRF2BPL NM_024496.4(IRF2BPL):c.1198G>A (p.Gly400Ser) SNV Likely pathogenic 1029892 GRCh37: 14:77492938-77492938
GRCh38: 14:77026595-77026595
15 IRF2BPL NM_024496.4(IRF2BPL):c.1283G>A (p.Gly428Asp) SNV Uncertain significance 1029893 GRCh37: 14:77492853-77492853
GRCh38: 14:77026510-77026510
16 IRF2BPL NM_024496.4(IRF2BPL):c.1874C>T (p.Ala625Val) SNV Uncertain significance 1029894 GRCh37: 14:77492262-77492262
GRCh38: 14:77025919-77025919
17 IRF2BPL NM_024496.4(IRF2BPL):c.1923G>T (p.Lys641Asn) SNV Uncertain significance 1029895 GRCh37: 14:77492213-77492213
GRCh38: 14:77025870-77025870
18 IRF2BPL NM_024496.4(IRF2BPL):c.2096C>A (p.Pro699His) SNV Uncertain significance 1029896 GRCh37: 14:77492040-77492040
GRCh38: 14:77025697-77025697
19 IRF2BPL NM_024496.4(IRF2BPL):c.313C>T (p.Gln105Ter) SNV Uncertain significance 1029897 GRCh37: 14:77493823-77493823
GRCh38: 14:77027480-77027480
20 IRF2BPL NM_024496.4(IRF2BPL):c.656C>A (p.Ser219Tyr) SNV Uncertain significance 1029898 GRCh37: 14:77493480-77493480
GRCh38: 14:77027137-77027137
21 IRF2BPL NM_024496.4(IRF2BPL):c.764A>T (p.Asn255Ile) SNV Uncertain significance 1029899 GRCh37: 14:77493372-77493372
GRCh38: 14:77027029-77027029
22 IRF2BPL NM_024496.4(IRF2BPL):c.1799C>T (p.Pro600Leu) SNV Uncertain significance 1047920 GRCh37: 14:77492337-77492337
GRCh38: 14:77025994-77025994
23 IRF2BPL NM_024496.4(IRF2BPL):c.224_311del (p.Pro75fs) Deletion Uncertain significance 982771 GRCh37: 14:77493825-77493912
GRCh38: 14:77027482-77027569

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

72
# Symbol AA change Variation ID SNP ID
1 IRF2BPL p.Lys418Asn VAR_081421 rs201073695

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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32 ICD10
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45 MESH via Orphanet
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49 NCI
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53 NINDS
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
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68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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