MCID: DYS189
MIFTS: 18

Dyskinesia, Seizures, and Intellectual Developmental Disorder

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Dyskinesia, Seizures, and Intellectual Developmental Disorder

MalaCards integrated aliases for Dyskinesia, Seizures, and Intellectual Developmental Disorder:

Name: Dyskinesia, Seizures, and Intellectual Developmental Disorder 57 75 29 6
Dyseidd 57 75
Intellectual Disability-Epilepsy-Extrapyramidal Syndrome 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
one consanguineous omani family has been reported (last curated october 2016)


HPO:

32
dyskinesia, seizures, and intellectual developmental disorder:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Dyskinesia, Seizures, and Intellectual Developmental Disorder

UniProtKB/Swiss-Prot : 75 Dyskinesia, seizures, and intellectual developmental disorder: A neurodevelopmental disorder characterized by psychomotor delay, epilepsy, intellectual disability, speech impairment and dyskinesia of the limbs. Patients also manifest autistic features and other behavioral abnormalities. DYSEIDD transmission pattern is consistent with autosomal recessive inheritance.

MalaCards based summary : Dyskinesia, Seizures, and Intellectual Developmental Disorder, also known as dyseidd, is related to deaf1-associated disorders. An important gene associated with Dyskinesia, Seizures, and Intellectual Developmental Disorder is DEAF1 (DEAF1, Transcription Factor). Related phenotypes are agitation and aggressive behavior

Description from OMIM: 617171

Related Diseases for Dyskinesia, Seizures, and Intellectual Developmental Disorder

Diseases related to Dyskinesia, Seizures, and Intellectual Developmental Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 deaf1-associated disorders 11.0

Symptoms & Phenotypes for Dyskinesia, Seizures, and Intellectual Developmental Disorder

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
intellectual disability
seizures
involuntary movements
status epilepticus
sleep disturbances
more
Muscle Soft Tissue:
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
agitation
autistic features
aggression
mood swings

Head And Neck Face:
involuntary facial movements


Clinical features from OMIM:

617171

Human phenotypes related to Dyskinesia, Seizures, and Intellectual Developmental Disorder:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 agitation 32 HP:0000713
2 aggressive behavior 32 HP:0000718
3 mood swings 32 HP:0000720
4 intellectual disability 32 HP:0001249
5 global developmental delay 32 HP:0001263
6 generalized hypotonia 32 HP:0001290
7 absent speech 32 HP:0001344
8 status epilepticus 32 HP:0002133
9 eeg abnormality 32 HP:0002353
10 sleep disturbance 32 HP:0002360
11 involuntary movements 32 HP:0004305
12 dyskinesia 32 HP:0100660

Drugs & Therapeutics for Dyskinesia, Seizures, and Intellectual Developmental Disorder

Search Clinical Trials , NIH Clinical Center for Dyskinesia, Seizures, and Intellectual Developmental Disorder

Genetic Tests for Dyskinesia, Seizures, and Intellectual Developmental Disorder

Genetic tests related to Dyskinesia, Seizures, and Intellectual Developmental Disorder:

# Genetic test Affiliating Genes
1 Dyskinesia, Seizures, and Intellectual Developmental Disorder 29 DEAF1

Anatomical Context for Dyskinesia, Seizures, and Intellectual Developmental Disorder

Publications for Dyskinesia, Seizures, and Intellectual Developmental Disorder

Variations for Dyskinesia, Seizures, and Intellectual Developmental Disorder

ClinVar genetic disease variations for Dyskinesia, Seizures, and Intellectual Developmental Disorder:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DEAF1 NM_021008.3(DEAF1): c.676C> T (p.Arg226Trp) single nucleotide variant Likely pathogenic rs587777623 GRCh38 Chromosome 11, 686986: 686986
2 DEAF1 NM_021008.3(DEAF1): c.676C> T (p.Arg226Trp) single nucleotide variant Likely pathogenic rs587777623 GRCh37 Chromosome 11, 686986: 686986
3 DEAF1 NM_021008.3(DEAF1): c.997+4A> C single nucleotide variant Pathogenic rs886040972 GRCh38 Chromosome 11, 680959: 680959
4 DEAF1 NM_021008.3(DEAF1): c.997+4A> C single nucleotide variant Pathogenic rs886040972 GRCh37 Chromosome 11, 680959: 680959

Expression for Dyskinesia, Seizures, and Intellectual Developmental Disorder

Search GEO for disease gene expression data for Dyskinesia, Seizures, and Intellectual Developmental Disorder.

Pathways for Dyskinesia, Seizures, and Intellectual Developmental Disorder

GO Terms for Dyskinesia, Seizures, and Intellectual Developmental Disorder

Sources for Dyskinesia, Seizures, and Intellectual Developmental Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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