sclerosteosis 1
MONDO:0010016Mondo
Findings
No curated finding names sclerosteosis 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any sclerosteosis in which the cause of the disease is a mutation in the SOST gene.
Definition from the Mondo Disease Ontology (MONDO:0010016), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Intermediate young adult onset
HPO, annotations 2026-09-02
Features
17 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
- 1 of 1 reported patient
- Blurred visionHPOHP:0000622
- 1 of 1 reported patient
- Frontal bossingHPOHP:0002007
- 1 of 1 reported patient
- HeadacheHPOHP:0002315
- 1 of 1 reported patient
- Irregular menstruationHPOHP:0000858
- 1 of 1 reported patient
- Large faceHPOHP:0100729
- 1 of 1 reported patient
- Large sella turcicaHPOHP:0002690
Show the remaining 5
- ProptosisHPOHP:0000520
- 1 of 1 reported patient
- Sclerotic vertebral endplatesHPOHP:0004576
- 1 of 1 reported patient
- SyndactylyHPOHP:0001159
- 1 of 1 reported patient
- Tooth malpositionHPOHP:0000692
- 1 of 1 reported patient
- Visual lossHPOHP:0000572
- 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.
- SOSTHGNC:13771
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: sclerosteosis 1
- Also called
- sclerosteosis caused by mutation in SOSTsclerosteosis type 1SOST sclerosteosisSOST1