ORPHA:217382
Neurodegenerative syndrome due to cerebral folate transport deficiency
Synonyms: Cerebral folate deficiency · Cerebral folate transport deficiency · Folate receptor alpha deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Neurodegenerative syndrome due to cerebral folate transport deficiency | Cerebral folate deficiency · Cerebral folate transport deficiency · Folate receptor alpha deficiency |
| fr | Syndrome neurodégénératif dû au déficit de transport cérébral des folates | Déficit cérébral du transport du folate · Déficit cérébral en folate · Déficit en récepteur alpha du folate |
| de | Neurodegeneratives Syndrom durch zerebrale Folattransportstörung | Folatrezeptor-alpha-Mangel · Folattransportdefizienz, zerebrale · Folsäuremangel, zerebraler |
| es | Síndrome neurodegenerativo por deficiencia de transporte cerebral de folatos | Deficiencia cerebral de folato · Deficiencia de transporte cerebral de folatos · Deficiencia del receptor alfa de folato |
| it | Sindrome neurodegenerativa da deficit del trasporto dei folati cerebrali | Carenza di folati a livello cerebrale · Deficit dei folati cerebrali · Deficit del recettore alfa dei folati · Deficit del trasporto dei folati cerebrali |
| nl | Neurodegeneratief syndroom door deficiëntie van cerebraal folaattransport | Cerebrale folaatdeficiëntie · Deficiëntie van cerebraal folaattransport · Deficiëntie van folaat in hersenen · Deficiëntie van folaatreceptor-alfa |
| pt | Síndrome neurodegenerativa devido a deficiência no transporte cerebral de folato | Deficiência cerebral de folato · Deficiência do recetor alfa do folato · Deficiência no transporte cerebral de folato |
| pl | Zespół neurodegeneracyjny z powodu zaburzeń transportu kwasu foliowego w mózgu | = en |
| cs | Neurodegenerativní syndrom způsobený deficitem transportu cerebrálních folátů | = en |
| uk | Нейродегенеративний синдром, спричинений дефіцитом транспорту фолатів у головному мозку | Дефіцит фолієвої кислоти в головному мозку · Дефіцит транспорту фолатів у головному мозку · Дефіцит альфа-рецепторів фолатів |
| zh | 脑叶酸转运缺陷所致神经退行性综合征 | |
| tr | Serebral folat transport eksikliğine bağlı nörodejeneratif sendrom |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613068 | E | validated | |
| ICD-10 | G31.8 | NTBT | attributed | validated |
| ICD-11 | 5C63.1 | NTBT | index | validated |
| MONDO | 0013110 | E | validated | |
| MeSH | C567791 | E | validated | |
| UMLS | C2751584 | E | validated | |
| GARD | 10594 | E | validated | |
| MedDRA | 10088217 | 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 (5):
- ORPHA:285657Disorder of folate metabolism and transport
rare inborn errors of metabolism; rare genetic diseases - ORPHA:183500Genetic neurodegenerative disease
rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:225713Other metabolic disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:182070Rare neurodegenerative disease
rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FOLR1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:3791 | ENSG00000110195 | 136430 | 11q13.4 | folate receptor 1 | 19732866[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 19732866[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19732866[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.
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/217382
- This record as JSON: /data/d/217382.json