ORPHA:79310
Vitamin B12-responsive methylmalonic acidemia type cblA
Synonyms: Vitamin B12-responsive methylmalonic aciduria type cblA
- 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
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Vitamin B12-responsive methylmalonic acidemia type cblA | Vitamin B12-responsive methylmalonic aciduria type cblA |
| fr | Acidémie méthylmalonique sensible à la vitamine B12 type cblA | Acidurie méthylmalonique sensible à la vitamine B12 type cblA |
| de | Methylmalonazidämie, Vitamin B12-sensible, Typ cblA | Methylmalonazidurie, Vitamin B12-abhängige, Typ cblA |
| es | Acidemia metilmalónica sensible a la vitamina B12 tipo cblA | Aciduria metilmalónica sensible a la vitamina B12 tipo cblA |
| it | Acidemia metilmalonica sensibile alla vitamina B12, tipo cblA | Aciduria metilmalonica sensibile alla vitamina B12, tipo cblA |
| nl | Vitamine B12-responsieve methylmalonacidemie type cblA | Vitamine B12-responsieve methylmalonacidemie type cblA · Vitamine B12-responsieve methylmalonacidurie type cblA · Vitamine B12-responsieve methylmalonzuuracidemie type cblA · Vitamine B12-responsieve methylmalonzuuracidurie type cblA |
| pt | Acidemia metilmalónica sensível à vitamina B12 tipo cbl A | |
| pl | Kwasica metylomalonowa reagująca na witaminę B12 typu cblA | Acyduria metylomalonowa reagująca na witaminę B12 typu cblA |
| cs | Methylmalonová acidémie responsivní na vitamin B12, typ cbIA | Methylmalonová acidurie responsivní na vitamin B12, typ cbIA |
| uk | Метилмалонова ацидемія тип cblA, чутлива до вітаміну В12 | Метилмалонова ацидурія, що реагує на вітамін В12, тип cblA |
| zh | 维生素B12反应性甲基丙二酸血症cbIA型 | 维生素B12-反应性甲基丙二酸尿症，cbIA型 |
| tr | B12 vitaminine duyarlı metilmalonik asidemi tip cblA | B12 vitaminine duyarlı metilmalonik asidüri tipi cblA |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 251100 | E | validated | |
| ICD-10 | E71.1 | NTBT | attributed | validated |
| ICD-11 | 5C50.E0 | NTBT | index | validated |
| MONDO | 0009613 | E | validated | |
| MeSH | C537360 | E | validated | |
| UMLS | C1855109 | 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 |
|---|---|---|---|---|---|---|---|---|
| MMAA | Disease-causing germline mutation(s) in | Assessed | HGNC:18871 | ENSG00000151611 | 607481 | 4q31.21 | metabolism of cobalamin associated A |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 60 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| 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.
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/79310
- This record as JSON: /data/d/79310.json