Methylmalonic aciduria due to transcobalamin receptor defect
Synonyms: Methylmalonic acidemia, TCb1R type · Methylmalonic acidemia, TCbIR type
- Type
- Biological anomaly
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Methylmalonic aciduria due to transcobalamin receptor defect is a rare metabolite absorption and transport disorder characterized by a moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however, screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Methylmalonic aciduria due to transcobalamin receptor defect | Methylmalonic acidemia, TCb1R type · Methylmalonic acidemia, TCbIR type |
| fr | Acidurie méthylmalonique par déficit en récepteur de la transcobalamine | Acidémie méthylmalonique type TCb1R |
| de | Methylmalonazidurie durch Transcobalamin-Rezeptor-Defekt | Methylmalonazidurie Typ TCb1R · Methylmalonazidämie Typ TCb1R |
| es | Aciduria metilmalónica por defectos del receptor de la transcobalamina | Acidemia metilmalónica tipo TCb1R · Acidemia metilmalónica tipo TCbIR |
| it | Aciduria metilmalonica da difetto del recettore della transcobalamina | Acidemia metilmalonica, tipo TCb1R · Acidemia metilmalonica, tipo TCbIR |
| nl | Methylmalonacidurie door defect van transcobalaminereceptor | Methylmalonacidemie, TCb1R-type · Methylmalonacidemie, TCbIR-type · Methylmalonzuuracidemie, TCb1R-type · Methylmalonzuuracidemie, TCbIR-type · Methylmalonzuuracidurie door defect van transcobalaminereceptor |
| pt | Aciduria metilmalónica por deficiência do receptor da transcobalamina | Acidémia metilmalónica, tipo TCb1R · Acidémia metilmalónica, tipo TCbIR |
| pl | Kwasica metylomalonowa z powodu defektu receptora transkobalaminy | Kwasica metylomalonowa, typ TCb1R · Kwasica metylomalonowa, typ TCbIR |
| cs | Methylmalonová acidurie způsobená poruchou v transkobalaminovém receptoru | Methylmalonová acidémie, typ TCb1R · Methylmalonová acidémie, typ TCbIR |
| uk | Метилмалоновий ацидоз внаслідок дефекту транскобаламінових рецепторів | Метилмалонова ацидемія, тип TCb1R · Метилмалонова ацидемія, тип TCbIR |
| zh | 钴胺传递蛋白受体缺陷所致甲基丙二酸尿症 | TCbIR型甲基丙二酸尿症 |
| tr | Transkobalamin reseptör bozukluğuna bağlı metilmalonik asidüri | Metilmalonik asidemi, TCb1R tipi · Metilmalonik asidemi, TCbIR tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613646 | E | validated | |
| ICD-10 | E71.1 | NTBT | attributed | validated |
| ICD-11 | 5C50.E0 | NTBT | attributed | validated |
| MONDO | 0013341 | E | validated | |
| UMLS | C4749905 | 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 (1):
- ORPHA:79171Disorder of cobalamin metabolism and transport
rare inborn errors of metabolism; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CD320 | Disease-causing germline mutation(s) in | Assessed | HGNC:16692 | ENSG00000167775 | 606475 | 19p13.2 | CD320 molecule | 20524213[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 20524213[PMID] | |
| 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/280183
- This record as JSON: /data/d/280183.json