PYCR1-related de Barsy syndrome
Findings
No curated finding names PYCR1-related de Barsy syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any de Barsy syndrome in which the cause of the disease is a mutation in the PYCR1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013755), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
35 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
- 1 of 1 reported patient
- CryptorchidismHPOHP:0000028
- 1 of 1 reported patient
- Cutis laxaHPOHP:0000973
- 22 of 22 reported patients
- Deeply set eyeHPOHP:0000490
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient
- Dermal translucencyHPOHP:0010648
- 1 of 1 reported patient
- Developmental glaucomaHPOHP:0001087
Show the remaining 23
- HypertelorismHPOHP:0000316
- 1 of 1 reported patient
- Inguinal herniaHPOHP:0000023
- 1 of 1 reported patient
- Large fontanellesHPOHP:0000239
- 1 of 1 reported patient
- Narrow nasal ridgeHPOHP:0000418
- 1 of 1 reported patient
- Narrow palpebral fissureHPOHP:0045025
- 1 of 1 reported patient
- OsteoporosisHPOHP:0000939
- 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.
- PYCR1HGNC:9721
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
5 names
Resolves to: PYCR1-related de Barsy syndrome
- Also called
- ARCL3Bde Barsy syndrome caused by mutation in PYCR1PYCR1 de Barsy syndromePYCR1 deficiencypyrroline-5-carboxylate reductase 1 deficiency