Stickler syndrome type 1
MONDO:0007160Mondo
Findings
No curated finding names Stickler syndrome type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
37 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.
- ArthralgiaHPOHP:0002829
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- ArthropathyHPOHP:0003040
- 3 of 3 reported patients
- Joint stiffnessHPOHP:0001387
- 3 of 3 reported patients
- MyopiaHPOHP:0000545
- 28 of 28 reported patients
- Very frequent (80% to 99% of cases)
- VitreoretinopathyHPOHP:0007773
- 25 of 25 reported patients
- OsteoarthritisHPOHP:0002758
- 18 of 22 reported patients
- Frequent (30% to 79% of cases)
- Abnormal vitreous humor morphologyHPOHP:0004327
- Very frequent (80% to 99% of cases)
- CataractHPOHP:0000518
- 10 of 25 reported patients
- Very frequent (80% to 99% of cases)
- Hypoplasia of the maxillaHPOHP:0000327
- Very frequent (80% to 99% of cases)
- Long philtrumHPOHP:0000343
- Very frequent (80% to 99% of cases)
- Retinal detachmentHPOHP:0000541
- 1 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Short noseHPOHP:0003196
- Very frequent (80% to 99% of cases)
Show the remaining 25
- Skeletal dysplasiaHPOHP:0002652
- Very frequent (80% to 99% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- 19 of 25 reported patients
- Frequent (30% to 79% of cases)
- Midface retrusionHPOHP:0011800
- 18 of 25 reported patients
- Retinal holeHPOHP:0011530
- 17 of 25 reported patients
- Abnormal epiphysis morphologyHPOHP:0005930
- Frequent (30% to 79% of cases)
- Abnormal vertebral epiphysis morphologyHPOHP:0100734
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.
- COL2A1HGNC:2200
- Definitive · ClinGen · Autosomal dominant · 2023
- Definitive · Illumina · Autosomal dominant · 2017
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- Narrower terms (1)