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A subtype of trichothiodystrophy caused by mutation(s) in the MPLKIP gene, encoding M-phase-specific PLK1-interacting protein.
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 12:49 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Features include always present findings: Trichorrhexis nodosa, Intellectual disability, Brittle hair, and Global developmental delay and others; and sometimes findings: Epicanthus, Anteverted nares, Cerebral cortical atrophy, and Microcornea and others. 30 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Skin | 4 | Small nail, Nail dysplasia, Nail dystrophy |
Brain and nerves | 3 | Cerebral cortical atrophy, Intellectual disability, Global developmental delay |
Muscles | 3 | Cerebral cortical atrophy, Severe muscular hypotonia, Damage to the optic nerve (optic atrophy) |
Eyes | 2 | Nystagmus, Damage to the optic nerve (optic atrophy) |
Heart and blood vessels | 1 | Ventricular septal defect |
Head and neck | 1 | Microcephaly |
Growth and development | 1 | Growth delay |
MPLKIP encodes M-phase specific PLK1 interacting protein (179 aa). May play a role in maintenance of cell cycle integrity by regulating mitosis or cytokinesis Highest expression in Cells Cultured fibroblasts (11.8 TPM) and Cells EBV-transformed lymphocytes (8.7 TPM).
Trichothiodystrophy 4, nonphotosensitive is associated with mutations in the MPLKIP gene on chromosome 7.
MPLKIP is classified as a druggable target (Kinase category) with score 0.0.
Genetic testing for MPLKIP is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for trichothiodystrophy 4, nonphotosensitive has been reported in the published literature.
Phenotype severity distribution: 6 always present features.
No clinical trials have been registered for trichothiodystrophy 4, nonphotosensitive.
3 publications have been identified in PubMed for trichothiodystrophy 4, nonphotosensitive. Research spans Diagnostic / Biomarker (33%), Basic Science / Preclinical (33%), and Gene Therapy / Novel Therapeutics (33%).
Khan SG (2026). [PMID: 40683339](https://pubmed.ncbi.nlm.nih.gov/40683339/). *The Journal of investigative dermatology*. [Basic Science / Preclinical]
Sinha S (2025). [PMID: 40087273](https://pubmed.ncbi.nlm.nih.gov/40087273/). *Nature communications*. [Diagnostic / Biomarker]
Nakazawa Y (2025). [PMID: 40924495](https://pubmed.ncbi.nlm.nih.gov/40924495/). *The Journal of clinical investigation*. [Gene Therapy / Novel Therapeutics]