ORPHA:79311
Vitamin B12-responsive methylmalonic acidemia type cblB
Synonyms: Vitamin B12-responsive methylmalonic aciduria, type cblB
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
This disease is described under Vitamin B12-responsive methylmalonic acidemia
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Vitamin B12-responsive methylmalonic acidemia type cblB | Vitamin B12-responsive methylmalonic aciduria, type cblB |
| fr | Acidémie méthylmalonique sensible à la vitamine B12 type cblB | Acidurie méthylmalonique sensible à la vitamine B12 type cblB |
| de | Methylmalonazidämie, Vitamin-B12-sensible, Typ cblB | Methylmalonazidurie, Vitamin-B12-abhängige, Typ cblB |
| es | Acidemia metilmalónica sensible a la vitamina B12 tipo cblB | Aciduria metilmalónica sensible a la vitamina B12 tipo cblB |
| it | Acidemia metilmalonica sensibile alla vitamina B12, tipo cblB | Aciduria metilmalonica sensibile alla vitamina B12, tipo cblB |
| nl | Vitamine B12-responsieve methylmalonacidemie type cblB | Vitamine B12-responsieve methylmalonacidurie type cblB · Vitamine B12-responsieve methylmalonzuuracidemie type cblB · Vitamine B12-responsieve methylmalonzuuracidurie type cblB |
| pt | Acidemia metilmalónica sensível à vitamina B12 tipo cbl B | |
| pl | Kwasica metylomalonowa reagująca na witaminę B12 typu cblB | Acyduria metylomalonowa reagująca na witaminę B12 typu cblB |
| cs | Methylmalonová acidémie responsivní na vitamin B12, typ cbIB | Methylmalonová acidurie responsivní na vitamin B12, typ cbIB |
| uk | Метилмалонова ацидемія тип cblB, чутлива до вітаміну В12 | Метилмалонова ацидурія, що реагує на вітамін В12, тип cblB |
| zh | 维生素B12反应性甲基丙二酸血症cbIB型 | 维生素B12-反应性甲基丙二酸尿症，cbIB型 |
| tr | B12 vitaminine duyarlı metilmalonik asidemi tip cblB | B12 vitaminine duyarlı metilmalonik asidüri, tip cblB |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 251110 | E | validated | |
| ICD-10 | E71.1 | NTBT | attributed | validated |
| ICD-11 | 5C50.E0 | NTBT | index | validated |
| MONDO | 0009614 | E | validated | |
| MeSH | C537361 | E | validated | |
| UMLS | C1855102 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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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.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MMAB | Disease-causing germline mutation(s) in | Assessed | HGNC:19331 | ENSG00000139428 | 607568 | 12q24.11 | metabolism of cobalamin associated B |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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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/79311
- This record as JSON: /data/d/79311.json