MRD53
MCID: MNT329
MIFTS: 22

Mental Retardation, Autosomal Dominant 53 (MRD53)

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 Dominant 53

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 53:

Name: Mental Retardation, Autosomal Dominant 53 57 75 6
Mrd53 57 75
Autosomal Dominant Mental Retardation 53 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
de novo mutation


HPO:

32
mental retardation, autosomal dominant 53:
Onset and clinical course phenotypic variability


Classifications:



Summaries for Mental Retardation, Autosomal Dominant 53

UniProtKB/Swiss-Prot : 75 Mental retardation, autosomal dominant 53: 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.

MalaCards based summary : Mental Retardation, Autosomal Dominant 53, is also known as mrd53. An important gene associated with Mental Retardation, Autosomal Dominant 53 is CAMK2A (Calcium/Calmodulin Dependent Protein Kinase II Alpha). Affiliated tissues include skin, brain and bone, and related phenotypes are hypertelorism and intellectual disability

Description from OMIM: 617798

Related Diseases for Mental Retardation, Autosomal Dominant 53

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 Dominant 19 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
Autosomal Dominant Mental Retardation 55

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 53

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
strabismus
downslanting palpebral fissures
epicanthal folds

Neurologic Central Nervous System:
delayed psychomotor development
seizures (in some patients)
delayed walking
intellectual disability, mild to severe
delayed or absent speech
more
Muscle Soft Tissue:
hypotonia

Head And Neck Face:
dysmorphic features, variable (in some patients)


Clinical features from OMIM:

617798

Human phenotypes related to Mental Retardation, Autosomal Dominant 53:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 intellectual disability 32 HP:0001249
3 seizures 32 very rare (1%) HP:0001250
4 global developmental delay 32 HP:0001263
5 strabismus 32 HP:0000486
6 epicanthus 32 HP:0000286
7 absent speech 32 HP:0001344
8 downslanted palpebral fissures 32 HP:0000494
9 delayed ability to walk 32 HP:0031936

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 53

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Dominant 53

Genetic Tests for Mental Retardation, Autosomal Dominant 53

Anatomical Context for Mental Retardation, Autosomal Dominant 53

MalaCards organs/tissues related to Mental Retardation, Autosomal Dominant 53:

41
Skin, Brain, Bone, Eye

Publications for Mental Retardation, Autosomal Dominant 53

Variations for Mental Retardation, Autosomal Dominant 53

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Dominant 53:

75
# Symbol AA change Variation ID SNP ID
1 CAMK2A p.Phe98Ser VAR_080579
2 CAMK2A p.Glu109Asp VAR_080580
3 CAMK2A p.Glu183Val VAR_080583
4 CAMK2A p.His282Arg VAR_080586
5 CAMK2A p.Thr286Pro VAR_080587

ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 53:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 CAMK2A NM_015981.3(CAMK2A): c.704C> T (p.Pro235Leu) single nucleotide variant Uncertain significance rs864309606 GRCh37 Chromosome 5, 149630363: 149630363
2 CAMK2A NM_015981.3(CAMK2A): c.704C> T (p.Pro235Leu) single nucleotide variant Uncertain significance rs864309606 GRCh38 Chromosome 5, 150250800: 150250800
3 CAMK2A NM_171825.2(CAMK2A): c.856A> C (p.Thr286Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 5, 150250270: 150250270
4 CAMK2A NM_171825.2(CAMK2A): c.856A> C (p.Thr286Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 5, 149629833: 149629833
5 CAMK2A NM_171825.2(CAMK2A): c.845A> G (p.His282Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 5, 150250281: 150250281
6 CAMK2A NM_171825.2(CAMK2A): c.845A> G (p.His282Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 5, 149629844: 149629844
7 CAMK2A NM_171825.2(CAMK2A): c.548A> T (p.Glu183Val) single nucleotide variant Pathogenic GRCh37 Chromosome 5, 149631595: 149631595
8 CAMK2A NM_171825.2(CAMK2A): c.548A> T (p.Glu183Val) single nucleotide variant Pathogenic GRCh38 Chromosome 5, 150252032: 150252032
9 CAMK2A NM_171825.2(CAMK2A): c.327G> C (p.Glu109Asp) single nucleotide variant Pathogenic GRCh37 Chromosome 5, 149636340: 149636340
10 CAMK2A NM_171825.2(CAMK2A): c.327G> C (p.Glu109Asp) single nucleotide variant Pathogenic GRCh38 Chromosome 5, 150256777: 150256777
11 CAMK2A NM_171825.2(CAMK2A): c.293T> C (p.Phe98Ser) single nucleotide variant Pathogenic GRCh37 Chromosome 5, 149636374: 149636374
12 CAMK2A NM_171825.2(CAMK2A): c.293T> C (p.Phe98Ser) single nucleotide variant Pathogenic GRCh38 Chromosome 5, 150256811: 150256811
13 CAMK2A NM_015981.3(CAMK2A): c.635C> A (p.Pro212Gln) single nucleotide variant Pathogenic rs926027867 GRCh38 Chromosome 5, 150251808: 150251808
14 CAMK2A NM_015981.3(CAMK2A): c.635C> A (p.Pro212Gln) single nucleotide variant Pathogenic rs926027867 GRCh37 Chromosome 5, 149631371: 149631371
15 CAMK2A NM_015981.3(CAMK2A): c.817-1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 5, 150250310: 150250310
16 CAMK2A NM_015981.3(CAMK2A): c.817-1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 5, 149629873: 149629873

Expression for Mental Retardation, Autosomal Dominant 53

Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 53.

Pathways for Mental Retardation, Autosomal Dominant 53

GO Terms for Mental Retardation, Autosomal Dominant 53

Sources for Mental Retardation, Autosomal Dominant 53

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
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37 KEGG
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40 LOVD
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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
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