MRT63
MCID: MNT335
MIFTS: 18

Mental Retardation, Autosomal Recessive 63 (MRT63)

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Mental Retardation, Autosomal Recessive 63

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 63:

Name: Mental Retardation, Autosomal Recessive 63 58 76 6
Mrt63 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
one consanguineous jordanian family has been reported (last curated august 2018)


Classifications:



Summaries for Mental Retardation, Autosomal Recessive 63

UniProtKB/Swiss-Prot : 76 Mental retardation, autosomal recessive 63: 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. MRT63 patients manifest global developmental delay, severe intellectual disability, and seizures.

MalaCards based summary : Mental Retardation, Autosomal Recessive 63, is also known as mrt63. An important gene associated with Mental Retardation, Autosomal Recessive 63 is CAMK2A (Calcium/Calmodulin Dependent Protein Kinase II Alpha). Related phenotypes are spasticity and global developmental delay

Description from OMIM: 618095

Related Diseases for Mental Retardation, Autosomal Recessive 63

Diseases in the Mental Retardation, Autosomal Dominant 20 family:

Mental Retardation, Autosomal Recessive 2 Mental Retardation, Autosomal Recessive 5
Mental Retardation, Autosomal Dominant 22 Mental Retardation, Autosomal Recessive 14
Mental Retardation, Autosomal Dominant 7 Mental Retardation, Autosomal Recessive 15
Mental Retardation, Autosomal Recessive 16 Mental Retardation, Autosomal Recessive 18
Mental Retardation, Autosomal Dominant 10 Mental Retardation, Autosomal Dominant 11
Mental Retardation, Autosomal Recessive 31 Mental Retardation, Autosomal Recessive 29
Mental Retardation, Autosomal Recessive 27 Mental Retardation, Autosomal Recessive 33
Mental Retardation, Autosomal Recessive 30 Mental Retardation, Autosomal Recessive 19
Mental Retardation, Autosomal Recessive 23 Mental Retardation, Autosomal Recessive 24
Mental Retardation, Autosomal Recessive 25 Mental Retardation, Autosomal Recessive 28
Mental Retardation, Autosomal Dominant 13 Mental Retardation, Autosomal Dominant 18
Mental Retardation, Autosomal Recessive 35 Mental Retardation, Autosomal Recessive 36
Mental Retardation, Autosomal Recessive 37 Mental Retardation, Autosomal Dominant 21
Mental Retardation, Autosomal Recessive 38 Mental Retardation, Autosomal Recessive 39
Mental Retardation, Autosomal Recessive 40 Mental Retardation, Autosomal Recessive 41
Mental Retardation, Autosomal Dominant 23 Mental Retardation, Autosomal Recessive 42
Mental Retardation, Autosomal Recessive 43 Mental Retardation, Autosomal Dominant 24
Mental Retardation, Autosomal Dominant 26 Mental Retardation, Autosomal Dominant 27
Mental Retardation, Autosomal Recessive 44 Mental Retardation, Autosomal Recessive 45
Mental Retardation, Autosomal Dominant 29 Mental Retardation, Autosomal Dominant 30
Mental Retardation, Autosomal Recessive 46 Mental Retardation, Autosomal Dominant 31
Mental Retardation, Autosomal Recessive 47 Mental Retardation, Autosomal Dominant 32
Mental Retardation, Autosomal Recessive 48 Mental Retardation, Autosomal Recessive 49
Mental Retardation, Autosomal Dominant 33 Mental Retardation, Autosomal Dominant 34
Mental Retardation, Autosomal Dominant 35 Mental Retardation, Autosomal Dominant 36
Mental Retardation, Autosomal Dominant 38 Mental Retardation, Autosomal Recessive 50
Mental Retardation, Autosomal Dominant 39 Mental Retardation, Autosomal Dominant 40
Mental Retardation, Autosomal Recessive 51 Mental Retardation, Autosomal Recessive 52
Mental Retardation, Autosomal Recessive 53 Mental Retardation, Autosomal Dominant 41
Mental Retardation, Autosomal Dominant 42 Mental Retardation, Autosomal Dominant 43
Mental Retardation, Autosomal Recessive 54 Mental Retardation, Autosomal Recessive 55
Mental Retardation, Autosomal Dominant 44 Mental Retardation, Autosomal Recessive 56
Mental Retardation, Autosomal Recessive 57 Mental Retardation, Autosomal Recessive 58
Mental Retardation, Autosomal Recessive 59 Mental Retardation, Autosomal Recessive 60
Mental Retardation, Autosomal Dominant 45 Mental Retardation, Autosomal Dominant 46
Mental Retardation, Autosomal Dominant 47 Mental Retardation, Autosomal Dominant 48
Mental Retardation, Autosomal Dominant 49 Mental Retardation, Autosomal Recessive 61
Mental Retardation, Autosomal Dominant 50 Mental Retardation, Autosomal Dominant 51
Mental Retardation, Autosomal Dominant 52 Mental Retardation, Autosomal Dominant 53
Mental Retardation, Autosomal Dominant 54 Mental Retardation, Autosomal Dominant 56
Mental Retardation, Autosomal Dominant 57 Mental Retardation, Autosomal Recessive 63
Mental Retardation, Autosomal Recessive 64 Mental Retardation, Autosomal Dominant 58
Mental Retardation, Autosomal Recessive 65 Mental Retardation, Autosomal Recessive 66
Autosomal Dominant Mental Retardation 55

Symptoms & Phenotypes for Mental Retardation, Autosomal Recessive 63

Human phenotypes related to Mental Retardation, Autosomal Recessive 63:

33
# Description HPO Frequency HPO Source Accession
1 spasticity 33 HP:0001257
2 global developmental delay 33 HP:0001263
3 intellectual disability, severe 33 HP:0010864
4 generalized myoclonic seizures 33 HP:0002123
5 inability to walk 33 HP:0002540

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
spasticity
intellectual disability, severe
inability to walk
myoclonic seizures
delayed psychomotor development, severe
more
Growth Other:
poor overall growth

Muscle Soft Tissue:
hypotonia, axial

Clinical features from OMIM:

618095

Drugs & Therapeutics for Mental Retardation, Autosomal Recessive 63

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Recessive 63

Genetic Tests for Mental Retardation, Autosomal Recessive 63

Anatomical Context for Mental Retardation, Autosomal Recessive 63

Publications for Mental Retardation, Autosomal Recessive 63

Variations for Mental Retardation, Autosomal Recessive 63

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Recessive 63:

76
# Symbol AA change Variation ID SNP ID
1 CAMK2A p.His466Tyr VAR_081161

ClinVar genetic disease variations for Mental Retardation, Autosomal Recessive 63:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CAMK2A NM_015981.3(CAMK2A): c.1429C> T (p.His477Tyr) single nucleotide variant Pathogenic rs1554119274 GRCh37 Chromosome 5, 149602589: 149602589
2 CAMK2A NM_015981.3(CAMK2A): c.1429C> T (p.His477Tyr) single nucleotide variant Pathogenic rs1554119274 GRCh38 Chromosome 5, 150223026: 150223026

Expression for Mental Retardation, Autosomal Recessive 63

Search GEO for disease gene expression data for Mental Retardation, Autosomal Recessive 63.

Pathways for Mental Retardation, Autosomal Recessive 63

GO Terms for Mental Retardation, Autosomal Recessive 63

Sources for Mental Retardation, Autosomal Recessive 63

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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45 MeSH
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47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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