MRD53
MCID: MNT329
MIFTS: 25

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 56 73 29 6 17
Mrd53 56 73
Autosomal Dominant Mental Retardation 53 12

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
de novo mutation


HPO:

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


Classifications:



Summaries for Mental Retardation, Autosomal Dominant 53

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, eye and bone, and related phenotypes are seizures and hypertelorism

More information from OMIM: 617798 PS156200

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 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 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 Dominant 53

Human phenotypes related to Mental Retardation, Autosomal Dominant 53:

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

Symptoms via clinical synopsis from OMIM:

56
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

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

Genetic tests related to Mental Retardation, Autosomal Dominant 53:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 53 29 CAMK2A

Anatomical Context for Mental Retardation, Autosomal Dominant 53

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

40
Brain, Eye, Bone, Skin

Publications for Mental Retardation, Autosomal Dominant 53

Articles related to Mental Retardation, Autosomal Dominant 53:

# Title Authors PMID Year
1
De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders. 56 6
29560374 2018
2
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 56 6
29100089 2017
3
A Novel Human CAMK2A Mutation Disrupts Dendritic Morphology and Synaptic Transmission, and Causes ASD-Related Behaviors. 56 6
28130356 2017
4
The contribution of de novo coding mutations to autism spectrum disorder. 56 6
25363768 2014

Variations for Mental Retardation, Autosomal Dominant 53

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CAMK2A NM_015981.4(CAMK2A):c.856A>C (p.Thr286Pro)SNV Pathogenic 430918 rs1554121872 5:149629833-149629833 5:150250270-150250270
2 CAMK2A NM_015981.4(CAMK2A):c.845A>G (p.His282Arg)SNV Pathogenic 430917 rs1554121875 5:149629844-149629844 5:150250281-150250281
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.327G>C (p.Glu109Asp)SNV Pathogenic 430913 rs1287121256 5:149636340-149636340 5:150256777-150256777
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.817-1G>ASNV Pathogenic 560173 rs1554121878 5:149629873-149629873 5:150250310-150250310
8 CAMK2A NM_015981.4(CAMK2A):c.49G>A (p.Glu17Lys)SNV Likely pathogenic 666572 5:149669140-149669140 5:150289577-150289577
9 CAMK2A NM_015981.4(CAMK2A):c.704C>T (p.Pro235Leu)SNV Uncertain significance 218729 rs864309606 5:149630363-149630363 5:150250800-150250800

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

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 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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