raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:572550

RFVT3-related riboflavin transporter deficiency

Synonyms: RTD3 · Riboflavin transporter deficiency 3

Type
Clinical subtype
Group
Subtype of disorder
Inheritance
Autosomal recessive
Age of onset
Adolescent, Adult, Childhood, Infancy
Status
active

This disease is described under Riboflavin transporter deficiency

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enRFVT3-related riboflavin transporter deficiencyRTD3 · Riboflavin transporter deficiency 3
frDéficit en transporteur de la riboflavine lié à RFVT3Déficit en transporteur de la riboflavine 3 · RTD3
deRFVT3-assoziierte Riboflavin-Transporter-DefizienzRTD3 · Riboflavin-Transporter-Mangel Typ 3
esDeficiencia del transportador de riboflavina asociada a RFVT3Deficiencia del transportador de riboflavina tipo 3
itDeficit del trasportatore della riboflavina correlato a RFVT3Deficit del trasportatore della riboflavina 3 · RTD3
nlRFVT3-gerelateerde riboflavinetransporterdeficiëntieRTD3 · Riboflavinetransporterdeficiëntie 3
ptDeficiência do transportador de riboflavina RFVT3-relacionada
plNiedobór transportera ryboflawiny związany z RFVT3Niedobór transpotera ryboflawiny 3
csRFVT3-vázaný deficit riboflavinového transportéru= en
ukДефіцит транспортера рибофлавіну, повязаний з RFVT3Дефіцит транспортера рибофлавіну 3 · RTD3
zhRFVT3基因相关核黄素转运蛋白缺乏症核黄素转运蛋白缺乏症3型
trRFVT3-ilişkili riboflavin taşıyıcı eksikliğiRTD3 · Riboflavin taşıyıcı eksikliği 3
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM211530Evalidated
ICD-10G12.1NTBTattributedvalidated
ICD-11LD2H.YNTBTattributedvalidated
MONDO0013867Evalidated
UMLSC3553538Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

No children.

4

Genes

1 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
SLC52A3Disease-causing germline mutation(s) inAssessedHGNC:16187ENSG0000010127661335020p13solute carrier family 52 member 326973221[PMID]_30793323[PMID]
5

Prevalence and incidence

1 record
TypeClassValueAreaQualificationValidationSource
Point prevalence<1 / 1 000 000—WorldwideClass onlyValidatedORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

6

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

7

Sources for this card