ALDH18A1-related de Barsy syndrome
Findings
No curated finding names ALDH18A1-related de Barsy syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
ALDH18A1-related De Barsy syndrome combines intellectual deficit, bilateral cataracts, and skin and joint hyperlaxity.
Definition from the Mondo Disease Ontology (MONDO:0009053), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
23 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.
- Absent speechHPOHP:0001344
- 4 of 4 reported patients
- Cutis laxaHPOHP:0000973
- 4 of 4 reported patients
- Decreased circulating citrulline concentrationHPOHP:0003572
- 2 of 2 reported patients
- Distal amyotrophyHPOHP:0003693
- 4 of 4 reported patients
- Episodic vomitingHPOHP:0002572
- 2 of 2 reported patients
- Failure to thriveHPOHP:0001508
- 6 of 6 reported patients
- Global developmental delayHPOHP:0001263
Show the remaining 11
- Moderate intellectual disabilityHPOHP:0002342
- 2 of 2 reported patients
- Prominent superficial blood vesselsHPOHP:0007394
- 4 of 4 reported patients
- Short statureHPOHP:0004322
- 3 of 3 reported patients
- CataractHPOHP:0000518
- 3 of 6 reported patients
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Hip dislocationHPOHP:0002827
- 3 of 4 reported patients
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.
- ALDH18A1HGNC:9722
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: ALDH18A1-related de Barsy syndrome
- Also called
- ARCL3ADelta-1-pyrroline 5-carboxylate synthetase deficiencyneurocutaneous syndrome, Bicknell type