ORPHA:661412
Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency | |
| fr | Anémie mégaloblastique-immunodéficience par déficit en transporteur de folate 1 | |
| de | Megaloblastische Anämie-Immundefekt durch Folsäuretransporter-1-Mangel | |
| es | Anemia megaloblástica-inmunodeficiencia por deficiencia del transportador de folato 1 | |
| it | Anemia megaloblastica-immunodeficienza da deficit del trasportatore del folato 1 | |
| nl | Megaloblastische anemie - immuundeficiëntie door deficiëntie van folaattransporter 1 | Megaloblastaire anemie - immuundeficiëntie door deficiëntie van folaattransporter 1 |
| pt | Anemia megaloblástica-imunodeficiência por deficiência do transportador 1 do folato | |
| pl | Anemia megaloblastyczna-zaburzenia odporności wskutek niedoboru transportera folianów 1 | |
| cs | Megaloblastická anémie-imunodeficience způsobená deficitem folátového transportéru 1 | |
| uk | Мегалобластна анемія - імунодефіцит, зумовлений дефіцитом транспортера фолатів 1 |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601775 | BTNT | validated | |
| OMIM | 620603 | BTNT | validated | |
| ICD-10 | D52.8 | NTBT | attributed | validated |
| ICD-11 | 3A02.Y | NTBT | attributed | validated |
| MONDO | 0971066 | E | validated | |
| MONDO | 971066 | E | validated | |
| UMLS | C5925127 | 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 (3):
- ORPHA:98408Constitutional megaloblastic anemia due to folate metabolism disorder
rare genetic diseases; rare hematological diseases - ORPHA:285657Disorder of folate metabolism and transport
rare inborn errors of metabolism; rare genetic diseases - ORPHA:331217Syndrome with combined immunodeficiency
rare genetic diseases; rare immunological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC19A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:10937 | 21q22.3 | solute carrier family 19 member 1 | 32276275[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 36517554[PMID]_36745868[PMID]_32276275[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 36517554[PMID]_36745868[PMID]_32276275[PMID]_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.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/661412
- This record as JSON: /data/d/661412.json