ariboflavinosis
Findings
No curated finding names ariboflavinosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A dietary deficiency of riboflavin causing a syndrome chiefly marked by cheilitis, angular stomatitis, glossitis associated with a purplish red or magenta-colored tongue that may show fissures, corneal vascularization, dyssebacia, and anemia. (Dorland, 27th ed)
Definition from the Mondo Disease Ontology (MONDO:0004573), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
8 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.
- Decreased circulating vitamin B2 concentrationHPOHP:0100504
- 1 of 1 reported patient · Neonatal onset
- Elevated circulating fatty acylcarnitine concentrationHPOHP:0045045
- 1 of 1 reported patient
- Elevated urinary dicarboxylic acid levelHPOHP:0003215
- 1 of 1 reported patient
- HypothermiaHPOHP:0002045
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- Lactic acidosisHPOHP:0003128
- 1 of 1 reported patient
- Lethargy
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.
- SLC52A1HGNC:30225
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2023
Where it sits
- Narrower terms (1)
Other names
2 names
Resolves to: ariboflavinosis
- Also called
- riboflavin deficiencyvitamin B2 deficiency