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MRD53
MCID: MNT329
MIFTS: 23

Mental Retardation, Autosomal Dominant 53 (MRD53)

Categories: Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Publications Symptoms & Phenotypes
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Aliases & Classifications for Mental Retardation, Autosomal Dominant 53

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MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 53:

Name: Mental Retardation, Autosomal Dominant 53 57 73 6 17
Mrd53 57 73
Autosomal Dominant Mental Retardation 53 12

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
de novo mutation


HPO:

31
mental retardation, autosomal dominant 53:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Fetal diseases Rare diseases
Anatomical: Mental diseases Neuronal diseases Eye diseases Gastrointestinal diseases Ear diseases
See all MalaCards categories (disease lists)


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Summaries for Mental Retardation, Autosomal Dominant 53

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UniProtKB/Swiss-Prot : 73 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 brain, and related phenotypes are seizure and intellectual disability

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in heterozygous mutation in the CAMK2A gene on chromosome 5q32.

More information from OMIM: 617798 PS156200
Sources

Related Diseases for Mental Retardation, Autosomal Dominant 53

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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

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Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 53

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Human phenotypes related to Mental Retardation, Autosomal Dominant 53:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 seizure 31 very rare (1%) HP:0001250
2 intellectual disability 31 HP:0001249
3 global developmental delay 31 HP:0001263
4 hypertelorism 31 HP:0000316
5 strabismus 31 HP:0000486
6 absent speech 31 HP:0001344
7 epicanthus 31 HP:0000286
8 downslanted palpebral fissures 31 HP:0000494
9 generalized hypotonia 31 HP:0001290
10 delayed ability to walk 31 HP:0031936

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
hypertelorism
strabismus
downslanting palpebral fissures
epicanthal folds

Neurologic Central Nervous System:
seizures (in some patients)
delayed psychomotor development
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 (Updated 05-Mar-2021)

Sources

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 53

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

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Genetic Tests for Mental Retardation, Autosomal Dominant 53

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Anatomical Context for Mental Retardation, Autosomal Dominant 53

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

40
Brain
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Publications for Mental Retardation, Autosomal Dominant 53

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Articles related to Mental Retardation, Autosomal Dominant 53:

# Title Authors PMID Year
1
De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders. 6 57
29560374 2018
2
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 6 57
29100089 2017
3
A Novel Human CAMK2A Mutation Disrupts Dendritic Morphology and Synaptic Transmission, and Causes ASD-Related Behaviors. 6 57
28130356 2017
4
The contribution of de novo coding mutations to autism spectrum disorder. 57 6
25363768 2014
Sources

Variations for Mental Retardation, Autosomal Dominant 53

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

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CAMK2A NM_015981.4(CAMK2A):c.327G>C (p.Glu109Asp) SNV Pathogenic 430913 rs1287121256 5:149636340-149636340 5:150256777-150256777
2 CAMK2A NM_015981.4(CAMK2A):c.856A>C (p.Thr286Pro) SNV Pathogenic 430918 rs1554121872 5:149629833-149629833 5:150250270-150250270
3 CAMK2A NM_015981.4(CAMK2A):c.548A>T (p.Glu183Val) SNV Pathogenic 430914 rs1554122129 5:149631595-149631595 5:150252032-150252032
4 CAMK2A NM_015981.4(CAMK2A):c.845A>G (p.His282Arg) SNV Pathogenic 430917 rs1554121875 5:149629844-149629844 5:150250281-150250281
5 CAMK2A NM_015981.4(CAMK2A):c.293T>C (p.Phe98Ser) SNV Pathogenic 430912 rs1554122526 5:149636374-149636374 5:150256811-150256811
6 CAMK2A NM_015981.4(CAMK2A):c.635C>A (p.Pro212Gln) SNV Pathogenic 560171 rs926027867 5:149631371-149631371 5:150251808-150251808
7 CAMK2A NM_015981.4(CAMK2A):c.704C>T (p.Pro235Leu) SNV Pathogenic 218729 rs864309606 5:149630363-149630363 5:150250800-150250800
8 CAMK2A NM_015981.4(CAMK2A):c.817-1G>A SNV Pathogenic 560173 rs1554121878 5:149629873-149629873 5:150250310-150250310
9 CAMK2A NM_015981.4(CAMK2A):c.49G>A (p.Glu17Lys) SNV Likely pathogenic 666572 rs1580966945 5:149669140-149669140 5:150289577-150289577
10 CAMK2A NM_015981.4(CAMK2A):c.329C>T (p.Ala110Val) SNV Likely pathogenic 975359 5:149636338-149636338 5:150256775-150256775
11 CAMK2A NM_015981.4(CAMK2A):c.220C>T (p.Arg74Ter) SNV Likely pathogenic 988756 5:149637178-149637178 5:150257615-150257615

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

73
# Symbol AA change Variation ID SNP ID
1 CAMK2A p.Phe98Ser VAR_080579 rs155412252
2 CAMK2A p.Glu109Asp VAR_080580
3 CAMK2A p.Glu183Val VAR_080583 rs155412212
4 CAMK2A p.His282Arg VAR_080586 rs155412187
5 CAMK2A p.Thr286Pro VAR_080587 rs155412187
6 CAMK2A p.Pro212Gln VAR_081160

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Expression for Mental Retardation, Autosomal Dominant 53

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

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GO Terms for Mental Retardation, Autosomal Dominant 53

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Sources for Mental Retardation, Autosomal Dominant 53

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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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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