MRT63
MCID: MNT335
MIFTS: 18

Mental Retardation, Autosomal Recessive 63 (MRT63)

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

Aliases & Classifications for Mental Retardation, Autosomal Recessive 63

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 63:

Name: Mental Retardation, Autosomal Recessive 63 57 72 6
Mrt63 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
mental retardation, autosomal recessive 63:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 618095
OMIM Phenotypic Series 57 PS249500
MeSH 44 D008607

Summaries for Mental Retardation, Autosomal Recessive 63

UniProtKB/Swiss-Prot : 72 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). Affiliated tissues include eye, and related phenotypes are spasticity and global developmental delay

More information from OMIM: 618095 PS249500

Related Diseases for Mental Retardation, Autosomal Recessive 63

Diseases in the Mental Retardation, Autosomal Dominant 7 family:

Mental Retardation, Autosomal Recessive 2 Mental Retardation, Autosomal Recessive 5
Mental Retardation, Autosomal Dominant 22 Mental Retardation, Autosomal Dominant 20
Mental Retardation, Autosomal Recessive 14 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 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 26
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 Recessive 48
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 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 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:

31
# Description HPO Frequency HPO Source Accession
1 spasticity 31 HP:0001257
2 global developmental delay 31 HP:0001263
3 intellectual disability, severe 31 HP:0010864
4 inability to walk 31 HP:0002540
5 generalized myoclonic seizure 31 HP:0002123

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
spasticity
intellectual disability, severe
inability to walk
myoclonic seizures
delayed psychomotor development, severe
more
Muscle Soft Tissue:
hypotonia, axial

Growth Other:
poor overall growth

Clinical features from OMIM®:

618095 (Updated 20-May-2021)

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

MalaCards organs/tissues related to Mental Retardation, Autosomal Recessive 63:

40
Eye

Publications for Mental Retardation, Autosomal Recessive 63

Articles related to Mental Retardation, Autosomal Recessive 63:

# Title Authors PMID Year
1
A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability. 57 6
29784083 2018

Variations for Mental Retardation, Autosomal Recessive 63

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CAMK2A NM_015981.4(CAMK2A):c.1429C>T (p.His477Tyr) SNV Pathogenic 560170 rs1554119274 GRCh37: 5:149602589-149602589
GRCh38: 5:150223026-150223026
2 CAMK2A NM_015981.4(CAMK2A):c.220C>T (p.Arg74Ter) SNV Likely pathogenic 988756 GRCh37: 5:149637178-149637178
GRCh38: 5:150257615-150257615

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

72
# Symbol AA change Variation ID SNP ID
1 CAMK2A p.His466Tyr VAR_081161 rs155411927

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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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