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 74 29 6 17
Mrd54 57 74
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:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080230
MeSH 44 D008607

Summaries for Mental Retardation, Autosomal Dominant 54

UniProtKB/Swiss-Prot : 74 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). Related phenotypes are seizures and microcephaly

More information from OMIM: 617799 PS156200

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 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 54

Human phenotypes related to Mental Retardation, Autosomal Dominant 54:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 seizures 32 very rare (1%) HP:0001250
2 microcephaly 32 very rare (1%) HP:0000252
3 intellectual disability 32 HP:0001249
4 constipation 32 HP:0002019
5 visual impairment 32 HP:0000505
6 gastroesophageal reflux 32 HP:0002020
7 generalized hypotonia 32 HP:0001290
8 feeding difficulties 32 HP:0011968
9 strabismus 32 HP:0000486
10 absent speech 32 HP:0001344
11 inability to walk 32 HP:0002540

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

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

Genetic tests related to Mental Retardation, Autosomal Dominant 54:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 54 29 CAMK2B

Anatomical Context for Mental Retardation, Autosomal Dominant 54

Publications for Mental Retardation, Autosomal Dominant 54

Articles related to Mental Retardation, Autosomal Dominant 54:

# Title Authors PMID Year
1
De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders. 8 71
29560374 2018
2
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 8 71
29100089 2017

Variations for Mental Retardation, Autosomal Dominant 54

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CAMK2B NM_001220.5(CAMK2B): c.328G> A (p.Glu110Lys) single nucleotide variant Pathogenic rs1554402092 7:44294154-44294154 7:44254555-44254555
2 CAMK2B NM_001220.5(CAMK2B): c.85C> T (p.Arg29Ter) single nucleotide variant Pathogenic rs1554434435 7:44323805-44323805 7:44284206-44284206
3 CAMK2B NM_001220.5(CAMK2B): c.638C> T (p.Pro213Leu) single nucleotide variant Pathogenic rs1554387293 7:44282217-44282217 7:44242618-44242618
4 CAMK2B NM_001220.5(CAMK2B): c.852A> T (p.Arg284Ser) single nucleotide variant Pathogenic rs1554385203 7:44281350-44281350 7:44241751-44241751
5 CAMK2B NM_001220.5(CAMK2B): c.709G> A (p.Glu237Lys) single nucleotide variant Pathogenic rs1554386687 7:44281927-44281927 7:44242328-44242328
6 CAMK2B NM_001220.5(CAMK2B): c.416C> T (p.Pro139Leu) single nucleotide variant Pathogenic/Likely pathogenic rs1554389088 7:44283125-44283125 7:44243526-44243526
7 CAMK2B NM_001220.5(CAMK2B): c.901A> G (p.Lys301Glu) single nucleotide variant Uncertain significance rs1554385111 7:44281301-44281301 7:44241702-44241702

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

74
# Symbol AA change Variation ID SNP ID
1 CAMK2B p.Glu110Lys VAR_080589 rs155440209
2 CAMK2B p.Pro139Leu VAR_080590 rs155438908
3 CAMK2B p.Glu237Lys VAR_080591 rs155438668
4 CAMK2B p.Lys301Glu VAR_080592 rs155438511
5 CAMK2B p.Pro213Leu VAR_081162 rs155438729
6 CAMK2B p.Arg284Ser VAR_081163 rs155438520

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 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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