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trichothiodystrophy 5, nonphotosensitive - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

trichothiodystrophy 5, nonphotosensitive

MONDO:0010495

Also known as:RNF113A nonphotosensitive trichothiodystrophynonphotosensitive trichothiodystrophy caused by mutation in RNF113ATTD5

Overview

Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the RNF113A gene.

GeneticsX-linked · RNF113A (chr X)

ResearchLimited published research (3 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: Short stature, Gait ataxia, Profound intellectual disability, and Tiger tail banding and others; and common findings: Chronic decreased circulating IgG1, Retinal dystrophy, Panhypopituitarism, and Optic nerve hypoplasia. 32 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Gait ataxia, Profound intellectual disability, Global brain atrophy

Genetic Landscape

RNF113A function has not been fully characterized.

Trichothiodystrophy 5, nonphotosensitive is associated with mutations in the RNF113A gene on chromosome X.

Diagnosis

Genetic testing for RNF113A is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 23 always present features, 4 common 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 5, nonphotosensitive.

3 publications have been identified in PubMed for trichothiodystrophy 5, nonphotosensitive. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (33%), and Gene Therapy / Novel Therapeutics (33%).

Recent Publications

Rabin R (2026). [PMID: 41531333](https://pubmed.ncbi.nlm.nih.gov/41531333/). *American journal of medical genetics. Part A*. [Case Report / Case Series]
Khan SG (2026). [PMID: 40683339](https://pubmed.ncbi.nlm.nih.gov/40683339/). *The Journal of investigative dermatology*. [Basic Science / Preclinical]
Nakazawa Y (2025). [PMID: 40924495](https://pubmed.ncbi.nlm.nih.gov/40924495/). *The Journal of clinical investigation*. [Gene Therapy / Novel Therapeutics]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:01 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:300953

GARD

Genetic and Rare Diseases Info Center

GARD:15277

Questions for Your Care Team

→Should female family members consider carrier screening for RNF113A?
→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 5, nonphotosensitive

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

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