ORPHA:572543
RFVT2-related riboflavin transporter deficiency
Synonyms: RTD2 · Riboflavin transporter deficiency 2
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
This disease is described under Riboflavin transporter deficiency
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | RFVT2-related riboflavin transporter deficiency | RTD2 · Riboflavin transporter deficiency 2 |
| fr | Déficit en transporteur de la riboflavine lié à RFVT2 | RTD2 · Déficit en transporteur de la riboflavine 2 |
| de | RFVT2-assoziierte Riboflavin-Transporter-Defizienz | RTD2 · Riboflavin-Transporter-Mangel Typ 2 |
| es | Deficiencia del transportador de riboflavina asociada a RFVT2 | Deficiencia del transportador de riboflavina tipo 2 |
| it | Deficit del trasportatore della riboflavina correlato a RFVT2 | Deficit del trasportatore della riboflavina 2 · RTD2 |
| nl | RFVT2-gerelateerde riboflavinetransporterdeficiëntie | RTD2 · Riboflavinetransporterdeficiëntie 2 |
| pt | Deficiência do transportador de riboflavina RFVT2-relacionada | |
| pl | Niedobór transportera ryboflawiny związany z RFVT2 | Niedobór transpotera ryboflawiny 2 |
| cs | RFVT2-vázaný deficit riboflavinového transportéru | = en |
| uk | Дефіцит транспортера рибофлавіну, повязаний з RFVT2 | Дефіцит транспортера рибофлавіну 2 · RTD2 |
| zh | RFVT2基因相关核黄素转运蛋白缺乏症 | 核黄素转运蛋白缺乏症2型 |
| tr | RFVT2-ilişkili riboflavin taşıyıcı eksikliği | RTD2 · Riboflavin taşıyıcı eksikliği 2 |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614707 | E | validated | |
| ICD-10 | G12.1 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | attributed | validated |
| MONDO | 0024537 | E | validated | |
| UMLS | C0796274 | E | validated |
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 (2):
- ORPHA:183518Hereditary ataxia
rare genetic diseases; rare neurological diseases - ORPHA:97229Riboflavin transporter deficiency
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders; rare otorhinolaryngological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC52A2 | Disease-causing germline mutation(s) in | Assessed | HGNC:30224 | ENSG00000185803 | 607882 | 8q24.3 | solute carrier family 52 member 2 | 26973221[PMID]_30793323[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
- Orphanet page: orpha.net/en/disease/detail/572543
- This record as JSON: /data/d/572543.json