MCID: MNT331
MIFTS: 12

Mental Retardation, Autosomal Dominant 55, with Seizures

Categories: Genetic diseases, Neuronal diseases, Mental 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 6
Mrd55 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


Classifications:



External Ids:

OMIM 57 617831
MedGen 42 CN757796
MeSH 44 D008607

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).

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:
delayed development
intellectual disability, moderate to severe
language delay
dysarthria
ataxic gait
more
Neurologic Behavioral Psychiatric Manifestations:
autism spectrum disorder


Clinical features from OMIM:

617831

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

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
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
Content
Loading form....