ORPHA:308380
Methylcobalamin deficiency type cblDv1
Synonyms: Functional methionine synthase deficiency type cblDv1
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Status
- active
This disease is described under Homocystinuria without methylmalonic aciduria
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Methylcobalamin deficiency type cblDv1 | Functional methionine synthase deficiency type cblDv1 |
| fr | Déficit en méthylcobalamine type cblDv1 | Déficit fonctionnel en méthionine synthase type cblDv1 |
| de | Methylcobalamin-Mangel Typ cblDv1 | Funktionaler Methionin-Synthase-Mangel Typ cblDv1 |
| es | Deficiencia de metilcobalamina tipo cblDv1 | Deficiencia funcional de metionina sintasa tipo cblDv1 |
| it | Deficit di metilcobalamina, tipo cblDv1 | Deficit funzionale di metionina sintasi, tipo cblDv1 |
| nl | Methylcobalaminedeficiëntie type cblDv1 | Functionele methioninesynthasedeficiëntie type cblDv1 |
| pt | Défice de metilcobalamina tipo cblDv1 | |
| pl | Niedobór metylokobalaminy typu cblDv1 | Funkcjonalny Niedobór syntazy metioniny typu cblDv1 |
| cs | Deficit methylkobalaminu, typ cblDv1 | Deficit funkční methioninsyntázy, typ cblDv1 |
| uk | Дефіцит метилкобаламіну, тип cblDv1 | Функціональна недостатність метіонінсинтетази, тип cblDv1 |
| zh | 乙钴胺缺乏cblDv1型 | 功能性甲硫氨酸合酶缺乏cblDv1型 |
| tr | Metilkobalamin eksikliği tipi cblDv1 | Fonksiyonel metiyonin sentaz eksikliği tip cblDv1 |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 277410 | NTBT | validated | |
| ICD-10 | E72.1 | NTBT | attributed | validated |
| ICD-11 | 5C50.B | NTBT | index | validated |
| MONDO | 0017683 | E | validated | |
| UMLS | C5679956 | 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:622Homocystinuria without methylmalonic aciduria
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare hematological diseases
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 | 18385497[PMID] |
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.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/308380
- This record as JSON: /data/d/308380.json