triokinase and FMN cyclase deficiency syndrome
MONDO:0032927Mondo
Findings
No curated finding names triokinase and FMN cyclase deficiency syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
19 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.
- CataractHPOHP:0000518
- 3 of 4 reported patients · Congenital onset
- Dilated cardiomyopathyHPOHP:0001644
- 1 of 4 reported patients
- Elevated circulating alanine aminotransferase concentrationHPOHP:0031964
- 1 of 4 reported patients
- Hepatic steatosisHPOHP:0001397
- 1 of 4 reported patients
- HepatomegalyHPOHP:0002240
- 1 of 4 reported patients
- HypoalbuminemiaHPOHP:0003073
- 1 of 4 reported patients
- MicrophthalmiaHPOHP:0000568
- 1 of 4 reported patients
- PancreatitisHPOHP:0001733
- 1 of 4 reported patients
- Reduced systolic functionHPOHP:0006673
- 1 of 4 reported patients
- Broad-based gaitHPOHP:0002136
- Cerebellar hypoplasiaHPOHP:0001321
- Chronic diarrheaHPOHP:0002028
- Infantile onset
Show the remaining 7
- Delayed CNS myelinationHPOHP:0002188
- Delayed speech and language developmentHPOHP:0000750
- Failure to thrive in infancyHPOHP:0001531
- Infantile onset
- Global developmental delayHPOHP:0001263
- Lactic acidosisHPOHP:0003128
- Microcytic anemiaHPOHP:0001935
- Motor delayHPOHP:0001270
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.
- TKFCHGNC:24552
- Limited · Ambry Genetics · Autosomal recessive · 2024
- Limited · G2P · Autosomal recessive · 2025
Where it sits
- A kind of