brittle cornea syndrome 2
Findings
No curated finding names brittle cornea syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any brittle cornea syndrome in which the cause of the disease is a mutation in the PRDM5 gene.
Definition from the Mondo Disease Ontology (MONDO:0013605), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
16 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.
- Blue scleraeHPOHP:0000592
- 8 of 8 reported patients
- Decreased corneal thicknessHPOHP:0100689
- 2 of 2 reported patients
- Hearing impairmentHPOHP:0000365
- 8 of 8 reported patients
- Joint hypermobilityHPOHP:0001382
- 8 of 8 reported patients
- MyopiaHPOHP:0000545
- 7 of 8 reported patients
- KeratoconusHPOHP:0000563
- 5 of 8 reported patients
- Bruising susceptibilityHPOHP:0000978
Show the remaining 4
- SclerocorneaHPOHP:0000647
- 2 of 8 reported patients
- Inguinal herniaHPOHP:0000023
- 1 of 8 reported patients
- Umbilical herniaHPOHP:0001537
- 1 of 8 reported patients
- MegalocorneaHPOHP:0000485
- 0 of 8 reported patients
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.
- PRDM5HGNC:9349
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
3 names
Resolves to: brittle cornea syndrome 2
- Also called
- brittle cornea syndrome caused by mutation in PRDM5brittle cornea syndrome type 2PRDM5 brittle cornea syndrome