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intellectual disability, autosomal recessive 51 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual disability, autosomal recessive 51

MONDO:0014759

Also known as:HNMT autosomal recessive non-syndromic intellectual disabilityMRT51autosomal recessive non-syndromic intellectual disability caused by mutation in HNMT

Overview

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the HNMT gene.

GeneticsAutosomal recessive · HNMT (chr 2)

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 sometimes findings: Motor delay. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Delayed speech and language development, Global developmental delay, Intellectual disability
Head and neck

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.

HNMT encodes histamine N-methyltransferase (292 aa). Inactivates histamine by N-methylation. Plays an important role in degrading histamine and in regulating the airway response to histamine Highest expression in Ovary (41.6 TPM) and Adipose Subcutaneous (37.3 TPM).

Intellectual disability, autosomal recessive 51 is associated with mutations in the HNMT gene on chromosome 2.

The HNMT protein participates in HNMT transfers CH3 group from AdoMet to Hist and AdoSeMet is converted to AdeSeHCys by MetTrans(1) pathways.

HNMT is classified as a druggable target (Druggable Genome and Enzyme categories) with score 3.7.

Diagnosis

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

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 recessive 51.

8 publications have been identified in PubMed for intellectual disability, autosomal recessive 51. Research spans Case Report / Case Series (63%), Basic Science / Preclinical (25%), and Epidemiology / Natural History (13%).

Recent Publications

Esmaeil Lashgarian H (2026). [PMID: 41625348](https://pubmed.ncbi.nlm.nih.gov/41625348/). *Iran J Med Sci*. [Case Report / Case Series]
Manti F (2026). [PMID: 41450729](https://pubmed.ncbi.nlm.nih.gov/41450729/). *Neurol Genet*. [Epidemiology / Natural History]
Yavas C (2026). [PMID: 41604004](https://pubmed.ncbi.nlm.nih.gov/41604004/). *Mol Biol Rep*. [Case Report / Case Series]
Wang T (2025). [PMID: 40221759](https://pubmed.ncbi.nlm.nih.gov/40221759/). *Ital J Pediatr*. [Basic Science / Preclinical]
Saba N (2025). [PMID: 41099992](https://pubmed.ncbi.nlm.nih.gov/41099992/). *Biochem Genet*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616739

GARD

Genetic and Rare Diseases Info Center

GARD:22571

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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 recessive 51

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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