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intellectual disability, autosomal dominant 51 (MRD51) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual disability, autosomal dominant 51

MONDO:0030917

Also known as:MRD51autosomal dominant intellectual disability 51autosomal dominant mental retardation 51

Overview

GeneticsAutosomal dominant · KMT5B (chr 11)

ResearchLimited published research (8 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 common findings: Autistic behavior. 34 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	10	Febrile seizure outside the age of 3 months to 6 years, Aggressive behavior, Enlarged brain ventricles (ventriculomegaly)

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.

KMT5B encodes lysine methyltransferase 5B (885 aa). Histone methyltransferase that specifically methylates monomethylated 'Lys-20' (H4K20me1) and dimethylated 'Lys-20' (H4K20me2) of histone H4 to produce respectively dimethylated 'Lys-20' (H4K20me2) and trimethylated 'Lys-20' (H4K20me3) and thus regulates transcription and maintenance of genome integrity. Highest expression in Brain Cerebellar Hemisphere (32.7 TPM) and Thyroid (29.2 TPM).

Intellectual disability, autosomal dominant 51 is associated with mutations in the KMT5B gene on chromosome 11.

The KMT5B protein participates in SUV420H1 (KMT5B), SUV420H2 (KMT5C), (possibly SMYD3 (KMT3E)) methylate methyl-lysine-21 of histone H4 (H4K20) and SUV420H1, SUV420H2, (possibly SMYD3 (KMT3E)) methylate dimethyl-lysine-21 of histone H4 (H4K20) pathways.

KMT5B is classified as a druggable target (Dna Repair and Enzyme categories) with score 0.0.

Diagnosis

Genetic testing for KMT5B is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature, 1 common feature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 51.

8 publications have been identified in PubMed for intellectual disability, autosomal dominant 51. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (38%), and Basic Science / Preclinical (13%).

Recent Publications

Tie X (2025). [PMID: 39542866](https://pubmed.ncbi.nlm.nih.gov/39542866/). *American journal of medical genetics. Part A*. [Case Report / Case Series]
Politano D (2025). [PMID: 41153391](https://pubmed.ncbi.nlm.nih.gov/41153391/). *Genes*. [Review / Meta-Analysis]
Hu X (2025). [PMID: 41442178](https://pubmed.ncbi.nlm.nih.gov/41442178/). *QJM : monthly journal of the Association of Physicians*. [Basic Science / Preclinical]
Videla L (2025). [PMID: 40528282](https://pubmed.ncbi.nlm.nih.gov/40528282/). *Alzheimer's & dementia : the journal of the Alzheimer's Association*. [Review / Meta-Analysis]
Abenza-Abildúa MJ (2025). [PMID: 40285998](https://pubmed.ncbi.nlm.nih.gov/40285998/). *Acta neurologica Belgica*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:46 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617788

Orphanet

European rare disease database

Orphanet:684226

Questions for Your Care Team

→Should I pursue genetic testing for KMT5B, 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 51

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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