trichothiodystrophy 4, nonphotosensitive
Findings
No curated finding names trichothiodystrophy 4, nonphotosensitive yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A subtype of trichothiodystrophy caused by mutation(s) in the MPLKIP gene, encoding M-phase-specific PLK1-interacting protein.
Definition from the Mondo Disease Ontology (MONDO:0021013), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
5 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Brittle hairHPOHP:0002299
- 1 of 1 reported patient
- Growth delayHPOHP:0001510
- 1 of 1 reported patient
- Intellectual disabilityHPOHP:0001249
- 1 of 1 reported patient
- Nail dystrophyHPOHP:0008404
- 1 of 1 reported patient
- Trichorrhexis nodosaHPOHP:0009886
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MPLKIPHGNC:16002
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: trichothiodystrophy 4, nonphotosensitive
- Also called
- MPLKIP nonphotosensitive trichothiodystrophynonphotosensitive trichothiodystrophy caused by mutation in MPLKIPPollitt syndromeTTD4