MRD55
MCID: MNT331
MIFTS: 18

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 72 6
Mrd55 57 72
Mental Retardation, Autosomal Dominant, Type 55, with Seizures 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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


HPO:

31
mental retardation, autosomal dominant 55, with seizures:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Dominant 55, with Seizures

UniProtKB/Swiss-Prot : 72 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 eeg abnormality

More information from OMIM: 617831 PS156200

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

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

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

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 eeg abnormality 31 very rare (1%) HP:0002353
3 dysarthria 31 very rare (1%) HP:0001260
4 tremor 31 very rare (1%) HP:0001337
5 global developmental delay 31 very rare (1%) HP:0001263
6 delayed speech and language development 31 very rare (1%) HP:0000750
7 motor delay 31 very rare (1%) HP:0001270
8 gait ataxia 31 very rare (1%) HP:0002066
9 autistic behavior 31 very rare (1%) HP:0000729
10 epileptic encephalopathy 31 very rare (1%) HP:0200134
11 generalized myoclonic seizure 31 HP:0002123

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
dysarthria
tremor
myoclonic seizures
ataxic gait
language delay
more
Neurologic Behavioral Psychiatric Manifestations:
autism spectrum disorder

Clinical features from OMIM®:

617831 (Updated 05-Apr-2021)

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

Articles related to Mental Retardation, Autosomal Dominant 55, with Seizures:

# Title Authors PMID Year
1
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. 57 6
29100083 2017

Variations for Mental Retardation, Autosomal Dominant 55, with Seizures

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NUS1 NC_000006.12:g.(117676084_117693041)_(117693166_117694030)del Deletion Pathogenic 487688 GRCh37:
GRCh38: 6:117676084-117694030
2 NUS1 NM_138459.5(NUS1):c.743del (p.Asp248fs) Deletion Pathogenic 487686 rs1554202698 GRCh37: 6:118024819-118024819
GRCh38: 6:117703656-117703656
3 NUS1 NM_138459.5(NUS1):c.238_263del (p.Ala80fs) Deletion Pathogenic 807644 rs1582461267 GRCh37: 6:117997071-117997096
GRCh38: 6:117675908-117675933
4 NUS1 NM_138459.5(NUS1):c.93_94insCAGG (p.Thr32fs) Insertion Pathogenic 997641 GRCh37: 6:117996926-117996927
GRCh38: 6:117675763-117675764
5 NUS1 NM_138459.5(NUS1):c.128_141dup (p.Val48fs) Duplication Pathogenic 487687 rs1554200722 GRCh37: 6:117996952-117996953
GRCh38: 6:117675789-117675790
6 NUS1 NM_138459.5(NUS1):c.92_93insAG (p.Thr32fs) Insertion Pathogenic 998336 GRCh37: 6:117996924-117996925
GRCh38: 6:117675761-117675762
7 NUS1 NM_138459.5(NUS1):c.869G>A (p.Arg290His) SNV Uncertain significance 253197 rs886037858 GRCh37: 6:118028165-118028165
GRCh38: 6:117707002-117707002
8 NUS1 NM_138459.5(NUS1):c.250C>G (p.Arg84Gly) SNV Uncertain significance 1029128 GRCh37: 6:117997083-117997083
GRCh38: 6:117675920-117675920
9 NUS1 NM_138459.5(NUS1):c.506C>G (p.Pro169Arg) SNV Uncertain significance 569348 rs150646335 GRCh37: 6:118014295-118014295
GRCh38: 6:117693132-117693132

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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