ORPHA:308442
Vitamin B12-responsive methylmalonic acidemia, type cblDv2
Synonyms: Vitamin B12-responsive methylmalonic aciduria, type cblDv2
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Status
- active
This disease is described under Vitamin B12-responsive methylmalonic acidemia
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Vitamin B12-responsive methylmalonic acidemia, type cblDv2 | Vitamin B12-responsive methylmalonic aciduria, type cblDv2 |
| fr | Acidémie méthylmalonique sensible à la vitamine B12 type cblDv2 | Acidurie méthylmalonique sensible à la vitamine B12 type cblDv2 |
| de | Methylmalonazidämie, Vitamin B12-sensible, Typ cblDv2 | Methylmalonazidurie, Vitamin B12-abhängige, Typ cblDv2 |
| es | Acidemia metilmalónica sensible a la vitamina B12 tipo clbDv2 | Aciduria metilmalónica sensible a la vitamina B12 tipo clbDv2 |
| it | Acidemia metilmalonica sensibile alla vitamina B12, tipo cblDv2 | Aciduria metilmalonica refrattaria alla vitamina B12, tipo cblDv2 |
| nl | Vitamine B12-responsieve methylmalonacidemie, type cblDv2 | Vitamine B12-responsieve methylmalonacidurie, type cblDv2 · Vitamine B12-responsieve methylmalonzuuracidemie, type cblDv2 · Vitamine B12-responsieve methylmalonzuuracidurie, type cblDv2 |
| pt | Acidemia metilmalónica sensível à vitamina B12, tipo cblDv2 | |
| pl | Kwasica metylomalonowa wrażliwa na witaminę B12, typu cblDv2 | Acyduria metylomalonowa wrażliwa na witaminę B12, typu cblDv2 |
| cs | Methylmalonová acidémie reagující na vitamin B12, typ cblDv2 | Methylmalonová acidurie reagující na vitamin B12, typ cblDv2 |
| uk | Метилмалонова ацидемія, чутлива до вітаміну В12, тип cblDv2 | Метилмалонова ацидурія, що реагує на вітамін В12, тип cblDv2 |
| zh | 维生素B12敏感甲基丙二酸血症cblDv2型 | 维生素B12敏感甲基丙二酸尿症cblDv2型 |
| tr | B12 vitaminine duyarlı metilmalonik asidemi, tip cblDv2 | Vitamin B12'ye duyarlı metilmalonik asidüri, tip cblDv2 |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 277410 | NTBT | validated | |
| ICD-10 | E71.1 | NTBT | attributed | validated |
| ICD-11 | 5C50.E0 | NTBT | attributed | validated |
| MONDO | 0017685 | E | validated | |
| UMLS | C5679970 | 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 (1):
- ORPHA:28Vitamin B12-responsive methylmalonic acidemia
rare inborn errors of metabolism; rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MMADHC | Disease-causing germline mutation(s) in | Assessed | HGNC:25221 | ENSG00000168288 | 611935 | 2q23.2 | metabolism of cobalamin associated D |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
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/308442
- This record as JSON: /data/d/308442.json