thrombophilia due to protein S deficiency, autosomal recessive
MONDO:0013791Mondo
Findings
No curated finding names thrombophilia due to protein S deficiency, autosomal recessive 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
- Neonatal onset
HPO, annotations 2026-09-02
Features
7 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.
- AnemiaHPOHP:0001903
- 1 of 1 reported patient
- Cerebral hemorrhageHPOHP:0001342
- 1 of 1 reported patient
- Disseminated intravascular coagulationHPOHP:0005521
- 1 of 1 reported patient
- HypercoagulabilityHPOHP:0100724
- 1 of 1 reported patient
- PurpuraHPOHP:0000979
- 1 of 1 reported patient
- Reduced protein S activityHPOHP:0004855
- 1 of 1 reported patient
- SeizureHPOHP:0001250
- 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.
- PROS1HGNC:9456
- Definitive · Ambry Genetics · Autosomal recessive · 2025
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
1 name
Resolves to: thrombophilia due to protein S deficiency, autosomal recessive
- Also called
- thrombophilia 5 due to protein S deficiency, autosomal recessive