Stickler syndrome type 2
Findings
No curated finding names Stickler syndrome type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases). Stickler syndrome type 2 is caused by mutations in the COL11A1 gene (1p21).
Definition from the Mondo Disease Ontology (MONDO:0011493), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Infantile onset
HPO, annotations 2026-09-02
Features
30 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.
- Abnormal vitreous humor morphologyHPOHP:0004327
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Angle closure glaucomaHPOHP:0012109
- 1 of 1 reported patient
- Ankle painHPOHP:0030840
- 1 of 1 reported patient
- Degenerative vitreoretinopathyHPOHP:0007964
- 1 of 1 reported patient
- High myopiaHPOHP:0011003
- 7 of 7 reported patients
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- Knee painHPO
Show the remaining 18
- Remnants of the hyaloid vascular systemHPOHP:0007968
- 1 of 1 reported patient
- Retinal dysplasiaHPOHP:0007973
- 1 of 1 reported patient
- Sensorineural hearing impairmentHPOHP:0000407
- 7 of 8 reported patients
- Very frequent (80% to 99% of cases)
- CataractHPOHP:0000518
- Very frequent (80% to 99% of cases)
- Corneal opacityHPOHP:0007957
- Very frequent (80% to 99% of cases)
- Retinal detachmentHPOHP:0000541
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.
- COL11A1HGNC:2186
- Definitive · G2P · Autosomal dominant · 2023
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: Stickler syndrome type 2
- Also called
- COL11A1 Stickler syndromeStickler syndrome caused by mutation in COL11A1Stickler syndrome type II