trichothiodystrophy 1, photosensitive
MONDO:0011125Mondo
Findings
No curated finding names trichothiodystrophy 1, photosensitive yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Infantile onset
HPO, annotations 2026-09-02
Features
8 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.
- Cutaneous photosensitivityHPOHP:0000992
- 11 of 11 reported patients
- Pili tortiHPOHP:0003777
- 11 of 11 reported patients
- Trichorrhexis nodosaHPOHP:0009886
- 11 of 11 reported patients
- TrichoschisisHPOHP:0034354
- 11 of 11 reported patients
- ErythrodermaHPOHP:0001019
- MacrotiaHPOHP:0000400
- MicrocephalyHPOHP:0000252
- Short noseHPOHP:0003196
Genes
2 genes
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.
- ERCC2HGNC:3434
- Definitive · Illumina · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- ERCC3HGNC:3435
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
Where it sits
- A kind of
Other names
1 name
Resolves to: trichothiodystrophy 1, photosensitive
- Also called
- PIBIDS syndrome