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intellectual disability, autosomal dominant 53 (MRD53) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual disability, autosomal dominant 53

MONDO:0030919

Also known as:MRD53autosomal dominant intellectual disability 53autosomal dominant mental retardation 53

Overview

GeneticsAutosomal dominant · CAMK2A (chr 5)

OnsetINFANTILE

ResearchLimited published research (4 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Intellectual disability; and very common findings: Delayed speech and language development, Global developmental delay, and Delayed gross motor development. 43 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	12	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Irritability

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

CAMK2A encodes calcium/calmodulin dependent protein kinase II alpha (478 aa). Calcium/calmodulin-dependent protein kinase that functions autonomously after Ca(2+)/calmodulin-binding and autophosphorylation, and is involved in various processes, such as synaptic plasticity, neurotransmitter release and long-term potentiation. Highest expression in Brain Frontal Cortex BA9 (625.7 TPM) and Brain Cortex (564.1 TPM).

Intellectual disability, autosomal dominant 53 is associated with mutations in the CAMK2A gene on chromosome 5.

The CAMK2A protein participates in p-CAMK2A, p-CAMK2B pathway.

CAMK2A is classified as a druggable target (Druggable Genome, Enzyme, Kinase, Serine Threonine Kinase, and Transcription Factor categories) with score 0.4.

Diagnosis

Genetic testing for CAMK2A is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intellectual disability, autosomal dominant 53 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 3 very common features, 1 common feature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for intellectual disability, autosomal dominant 53.

4 publications have been identified in PubMed for intellectual disability, autosomal dominant 53. Research spans Diagnostic / Biomarker (50%), Case Report / Case Series (25%), and Epidemiology / Natural History (25%).

Recent Publications

Kayhan G (2026). [PMID: 41751633](https://pubmed.ncbi.nlm.nih.gov/41751633/). *Genes*. [Epidemiology / Natural History]
Mammadova N (2026). [PMID: 42053849](https://pubmed.ncbi.nlm.nih.gov/42053849/). *Mol Biol Rep*. [Case Report / Case Series]
Huang H (2025). [PMID: 41457108](https://pubmed.ncbi.nlm.nih.gov/41457108/). *Molecular genetics and genomics : MGG*. [Diagnostic / Biomarker]
Sandal S (2024). [PMID: 37804371](https://pubmed.ncbi.nlm.nih.gov/37804371/). *Indian journal of pediatrics*. [Diagnostic / Biomarker]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:00 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617798

GARD

Genetic and Rare Diseases Info Center

GARD:16473

Questions for Your Care Team

→Should I pursue genetic testing for CAMK2A, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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intellectual disability, autosomal dominant 53

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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