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trichothiodystrophy 9, nonphotosensitive (TTD9) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

trichothiodystrophy 9, nonphotosensitive

MONDO:0030518

Also known as:TTD9

Overview

GeneticsAutosomal recessive · MARS1 (chr 12)

ResearchLimited published research (2 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: Epicanthus, Brachydactyly, Joint hypermobility, and Global developmental delay and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Global developmental delay, Ataxia, Intellectual disability

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.

MARS1 encodes methionyl-tRNA synthetase 1 (900 aa). Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA. Highest expression in Cells Cultured fibroblasts (114.2 TPM) and Brain Cerebellum (111.3 TPM).

Trichothiodystrophy 9, nonphotosensitive is associated with mutations in the MARS1 gene on chromosome 12.

MARS1 is classified as a druggable target (Druggable Genome and Enzyme categories) with score 0.0.

Diagnosis

Genetic testing for MARS1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 15 always present features.

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 trichothiodystrophy 9, nonphotosensitive.

2 publications have been identified in PubMed for trichothiodystrophy 9, nonphotosensitive. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

Lasheras-Pérez MA (2026). [PMID: 40820264](https://pubmed.ncbi.nlm.nih.gov/40820264/). *Pediatric dermatology*. [Case Report / Case Series]
Zhang H (2025). [PMID: 39487674](https://pubmed.ncbi.nlm.nih.gov/39487674/). *IUBMB life*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:59 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619692

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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trichothiodystrophy 9, nonphotosensitive

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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