Riboflavin transporter deficiency
Synonyms: Brown-Vialetto-van Laere syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
A rare, genetic motor neuron disease characterized by a peripheral and cranial neuropathy, neuronal loss in anterior horns and atrophy of spinal sensory tracts, causing muscle weakness, sensory loss, diaphragmatic paralysis and respiratory insufficiency, and multiple cranial nerve deficits such as sensorineural hearing loss, bulbar symptoms, and loss of vision due to optic atrophy. Depending on the transporter affected, Riboflavin transporter deficiency 2 (RFVT2) and Riboflavin transporter deficiency 3 (RFVT3) are distinguished.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Riboflavin transporter deficiency | Brown-Vialetto-van Laere syndrome |
| fr | Déficit en transporteur de la riboflavine | Syndrome de Brown-Vialetto-van Laere |
| de | Riboflavin-Transporter-Defizienz | Brown-Vialetto-van Laere-Syndrom |
| es | Deficiencia del transportador de riboflavina | Síndrome de Brown-Vialetto-van Laere |
| it | Deficit del trasportatore della riboflavina | Sindrome di Brown-Vialetto-Van Laere |
| nl | Deficiëntie van riboflavinetransporter | Syndroom van Brown-Vialetto-van Laere |
| pt | Deficiência de transportador de riboflavina | Síndrome Brown-Vialetto-van Laere |
| pl | Niedobór transportera ryboflawiny | Czuciowo-nerwowa utrata słuchu - porażenie mostowo-opuszkowe · Zespół Browna, Vialetto i an Laere'a |
| cs | Deficit transporteru riboflavinu | Syndrom zahrnující senzorineurální ztrátu sluchu a pontobulbární obrnu · Brownův-Vialettův-van Laerův syndrom · Brown-Vialetto-van Laerův syndrom |
| uk | Дефіцит транспортера рибофлавіну | Синдром Брауна-Віалетто-ван Лаере |
| zh | 核黄素转运子缺乏症 | 感音神经性耳聋-脑桥延髓麻痹综合征 |
| tr | Riboflavin taşıyıcı eksikliği | Brown-Vialetto-van Laere sendromu · Sensörinöral sağırlık-pontobulber palsi sendromu · Sensörinöral işitme kaybı-pontobulber palsi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 211500 | E | validated | |
| OMIM | 211530 | BTNT | validated | |
| OMIM | 614707 | BTNT | validated | |
| ICD-10 | G12.2 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0008891 | E | validated | |
| MeSH | C537111 | E | validated | |
| UMLS | C4551777 | E | validated | |
| GARD | 9993 | E | validated | |
| MedDRA | 10084089 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:206704Bulbospinal muscular atrophy of childhood
rare genetic diseases; rare neurological diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:441434Syndromic hereditary optic neuropathy
rare genetic diseases; rare ophthalmic disorders
Codes that Orphanet moved or referred to this one:
- ORPHA:56965Progressive bulbar paralysis of childhood moved to · inactive
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| SLC52A2 | ORPHA:572543RFVT2-related riboflavin transporter deficiency | Disease-causing germline mutation(s) in | Assessed | HGNC:30224 | ENSG00000185803 | 607882 | 8q24.3 | solute carrier family 52 member 2 | 26973221[PMID]_30793323[PMID] |
| SLC52A3 | ORPHA:572550RFVT3-related riboflavin transporter deficiency | Disease-causing germline mutation(s) in | Assessed | HGNC:16187 | ENSG00000101276 | 613350 | 20p13 | solute carrier family 52 member 3 | 26973221[PMID]_30793323[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 109 cases | Worldwide | Case(s) | Validated | 30793323[PMID]_[EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_30793323[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
35 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001291 | Abnormal cranial nerve morphology | |
| HP:0001283 | Bulbar palsy | |
| HP:0006824 | Cranial nerve paralysis | |
| HP:0001730 | Progressive hearing impairment | |
| Frequent (79-30%) | ||
| HP:0000496 | Abnormality of eye movement | |
| HP:0001260 | Dysarthria | |
| HP:0002015 | Dysphagia | |
| HP:0010628 | Facial palsy | |
| HP:0001265 | Hyporeflexia | |
| HP:0001252 | Hypotonia | |
| HP:0003690 | Limb muscle weakness | |
| HP:0001324 | Muscle weakness | |
| HP:0001336 | Myoclonus | |
| HP:0000508 | Ptosis | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0003202 | Skeletal muscle atrophy | |
| Occasional (29-5%) | ||
| HP:0012332 | Abnormal autonomic nervous system physiology | |
| HP:0008002 | Abnormality of macular pigmentation | |
| HP:0000718 | Aggressive behavior | |
| HP:0001251 | Ataxia | |
| HP:0004326 | Cachexia | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0000551 | Color vision defect | |
| HP:0000873 | Diabetes insipidus | |
| HP:0000771 | Gynecomastia | |
| HP:0000738 | Hallucinations | |
| HP:0000822 | Hypertension | |
| HP:0000135 | Hypogonadism | |
| HP:0001249 | Intellectual disability | |
| HP:0007730 | Iris hypopigmentation | |
| HP:0000543 | Optic disc pallor | |
| HP:0001250 | Seizure | |
| HP:0010535 | Sleep apnea | |
| HP:0001337 | Tremor | |
| HP:0000505 | Visual impairment | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 26072523[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/97229
- This record as JSON: /data/d/97229.json