MRD54
MCID: MNT330
MIFTS: 22

Mental Retardation, Autosomal Dominant 54 (MRD54)

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 54

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 54:

Name: Mental Retardation, Autosomal Dominant 54 57 75 6
Mrd54 57 75
Autosomal Dominant Mental Retardation 54 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
de novo mutation


HPO:

32
mental retardation, autosomal dominant 54:
Onset and clinical course phenotypic variability


Classifications:



Summaries for Mental Retardation, Autosomal Dominant 54

UniProtKB/Swiss-Prot : 75 Mental retardation, autosomal dominant 54: 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 54, is also known as mrd54. An important gene associated with Mental Retardation, Autosomal Dominant 54 is CAMK2B (Calcium/Calmodulin Dependent Protein Kinase II Beta). Affiliated tissues include skin, bone and eye, and related phenotypes are intellectual disability and seizures

Description from OMIM: 617799

Related Diseases for Mental Retardation, Autosomal Dominant 54

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 54

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
constipation
gastroesophageal reflux
feeding difficulties

Neurologic Central Nervous System:
inability to walk
seizures (in some patients)
poor or absent speech
intellectual disability, mild to severe
delayed delayed psychomotor development

Neurologic Behavioral Psychiatric Manifestations:
autistic features
behavioral abnormalities

Head And Neck Head:
small head circumference (in some patients)

Head And Neck Eyes:
visual impairment
strabismus

Muscle Soft Tissue:
hypotonia

Growth Other:
poor overall growth

Head And Neck Face:
dysmorphic features, variable, mild


Clinical features from OMIM:

617799

Human phenotypes related to Mental Retardation, Autosomal Dominant 54:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 seizures 32 very rare (1%) HP:0001250
3 constipation 32 HP:0002019
4 visual impairment 32 HP:0000505
5 gastroesophageal reflux 32 HP:0002020
6 feeding difficulties 32 HP:0011968
7 strabismus 32 HP:0000486
8 absent speech 32 HP:0001344
9 inability to walk 32 HP:0002540

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 54

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Dominant 54

Genetic Tests for Mental Retardation, Autosomal Dominant 54

Anatomical Context for Mental Retardation, Autosomal Dominant 54

MalaCards organs/tissues related to Mental Retardation, Autosomal Dominant 54:

41
Skin, Bone, Eye

Publications for Mental Retardation, Autosomal Dominant 54

Variations for Mental Retardation, Autosomal Dominant 54

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Dominant 54:

75
# Symbol AA change Variation ID SNP ID
1 CAMK2B p.Glu110Lys VAR_080589
2 CAMK2B p.Pro139Leu VAR_080590
3 CAMK2B p.Glu237Lys VAR_080591
4 CAMK2B p.Lys301Glu VAR_080592

ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 54:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 CAMK2B NM_172079.2(CAMK2B): c.901A> G (p.Lys301Glu) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 44281301: 44281301
2 CAMK2B NM_172079.2(CAMK2B): c.901A> G (p.Lys301Glu) single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 44241702: 44241702
3 CAMK2B NM_172079.2(CAMK2B): c.709G> A (p.Glu237Lys) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 44242328: 44242328
4 CAMK2B NM_172079.2(CAMK2B): c.709G> A (p.Glu237Lys) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 44281927: 44281927
5 CAMK2B NM_172079.2(CAMK2B): c.416C> T (p.Pro139Leu) single nucleotide variant Pathogenic/Likely pathogenic GRCh37 Chromosome 7, 44283125: 44283125
6 CAMK2B NM_172079.2(CAMK2B): c.416C> T (p.Pro139Leu) single nucleotide variant Pathogenic/Likely pathogenic GRCh38 Chromosome 7, 44243526: 44243526
7 CAMK2B NM_172079.2(CAMK2B): c.328G> A (p.Glu110Lys) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 44294154: 44294154
8 CAMK2B NM_172079.2(CAMK2B): c.328G> A (p.Glu110Lys) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 44254555: 44254555
9 CAMK2B NM_172079.2(CAMK2B): c.85C> T (p.Arg29Ter) single nucleotide variant Pathogenic/Likely pathogenic GRCh37 Chromosome 7, 44323805: 44323805
10 CAMK2B NM_172079.2(CAMK2B): c.85C> T (p.Arg29Ter) single nucleotide variant Pathogenic/Likely pathogenic GRCh38 Chromosome 7, 44284206: 44284206
11 CAMK2B NM_001220.4(CAMK2B): c.638C> T (p.Pro213Leu) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 44282217: 44282217
12 CAMK2B NM_001220.4(CAMK2B): c.638C> T (p.Pro213Leu) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 44242618: 44242618
13 CAMK2B NM_001220.4(CAMK2B): c.852A> T (p.Arg284Ser) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 44241751: 44241751
14 CAMK2B NM_001220.4(CAMK2B): c.852A> T (p.Arg284Ser) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 44281350: 44281350

Expression for Mental Retardation, Autosomal Dominant 54

Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 54.

Pathways for Mental Retardation, Autosomal Dominant 54

GO Terms for Mental Retardation, Autosomal Dominant 54

Sources for Mental Retardation, Autosomal Dominant 54

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
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
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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