MRD53
MCID: MNT329
MIFTS: 23
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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
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MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 53:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
variable phenotype de novo mutation HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Metabolic diseases Fetal diseases Rare diseases Anatomical: Mental diseases Neuronal diseases Eye diseases Gastrointestinal diseases Ear diseases |
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. |
Human phenotypes related to Mental Retardation, Autosomal Dominant 53:31 (show all 10)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:617798 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Mental Retardation, Autosomal Dominant 53:40
Brain
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Articles related to Mental Retardation, Autosomal Dominant 53:
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ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 53:6 (show all 11)
UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Dominant 53:73
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Search
GEO
for disease gene expression data for Mental Retardation, Autosomal Dominant 53.
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