MRD55
MCID: MNT331
MIFTS: 15

Mental Retardation, Autosomal Dominant 55, with Seizures (MRD55)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Mental Retardation, Autosomal Dominant 55, with Seizures

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 55, with Seizures:

Name: Mental Retardation, Autosomal Dominant 55, with Seizures 57 75 29 6
Mrd55 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
three unrelated patients have been reported (last curated january 2018)
onset of seizures in first years of life
seizures tend to be controlled by multiple medications


Classifications:



Summaries for Mental Retardation, Autosomal Dominant 55, with Seizures

UniProtKB/Swiss-Prot : 75 Mental retardation, autosomal dominant 55, with seizures: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD55 patients suffer from seizures appearing during the first years of life.

MalaCards based summary : Mental Retardation, Autosomal Dominant 55, with Seizures, is also known as mrd55. An important gene associated with Mental Retardation, Autosomal Dominant 55, with Seizures is NUS1 (NUS1, Dehydrodolichyl Diphosphate Synthase Subunit). Related phenotypes are intellectual disability and dysarthria

Description from OMIM: 617831

Related Diseases for Mental Retardation, Autosomal Dominant 55, with Seizures

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 55, with Seizures

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
tremor
ataxic gait
language delay
myoclonic seizures
more
Neurologic Behavioral Psychiatric Manifestations:
autism spectrum disorder


Clinical features from OMIM:

617831

Human phenotypes related to Mental Retardation, Autosomal Dominant 55, with Seizures:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 dysarthria 32 HP:0001260
3 tremor 32 HP:0001337
4 eeg abnormality 32 HP:0002353
5 global developmental delay 32 HP:0001263
6 delayed speech and language development 32 HP:0000750
7 generalized myoclonic seizures 32 HP:0002123
8 gait ataxia 32 HP:0002066

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 55, with Seizures

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Dominant 55, with Seizures

Genetic Tests for Mental Retardation, Autosomal Dominant 55, with Seizures

Genetic tests related to Mental Retardation, Autosomal Dominant 55, with Seizures:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 55, with Seizures 29 NUS1

Anatomical Context for Mental Retardation, Autosomal Dominant 55, with Seizures

Publications for Mental Retardation, Autosomal Dominant 55, with Seizures

Variations for Mental Retardation, Autosomal Dominant 55, with Seizures

ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 55, with Seizures:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NUS1 NM_138459.4(NUS1): c.743delA (p.Asp248Alafs) deletion Pathogenic GRCh37 Chromosome 6, 118024819: 118024819
2 NUS1 NM_138459.4(NUS1): c.743delA (p.Asp248Alafs) deletion Pathogenic GRCh38 Chromosome 6, 117703656: 117703656
3 NUS1 NM_138459.4(NUS1): c.128_141dup (p.Val48Profs) duplication Pathogenic GRCh37 Chromosome 6, 117996961: 117996974
4 NUS1 NM_138459.4(NUS1): c.128_141dup (p.Val48Profs) duplication Pathogenic GRCh38 Chromosome 6, 117675798: 117675811
5 NUS1 NC_000006.12 deletion Pathogenic

Expression for Mental Retardation, Autosomal Dominant 55, with Seizures

Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 55, with Seizures.

Pathways for Mental Retardation, Autosomal Dominant 55, with Seizures

GO Terms for Mental Retardation, Autosomal Dominant 55, with Seizures

Sources for Mental Retardation, Autosomal Dominant 55, with Seizures

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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44 MeSH
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49 NCI
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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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