ORPHA:2170
Methylcobalamin deficiency type cblG
Synonyms: Functional methionine synthase deficiency type cblG
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
This disease is described under Homocystinuria without methylmalonic aciduria
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Methylcobalamin deficiency type cblG | Functional methionine synthase deficiency type cblG |
| fr | Déficit en méthylcobalamine type cblG | Déficit fonctionnel en méthionine synthase type cblG |
| de | Methylcobalamin-Mangel Typ cbl G | Methionin-Synthase-Mangel, funktioneller, Typ cbl G |
| es | Deficiencia de metilcobalamina tipo cbl G | Deficiencia funcional de metionina sintasa tipo cblG |
| it | Deficit di metilcobalamina, tipo cblG | Deficit funzionale di metionina sintasi, tipo cblG |
| nl | Deficiëntie van methylcobalamine type cblG | Functionele deficiëntie van methioninesynthase type cblG |
| pt | Deficiência de metilcobalamina tipo cblG | Deficiência funcional de metionina sintetase tipo cblG |
| pl | Niedobór metylokobalaminy typu cblG | Funkcjonalny Niedobór syntazy metioniny typu cblG |
| cs | Deficit methylkobalaminu, typ cbIG | Funkční deficit methionin syntázy, typ cbIG |
| uk | Дефіцит метилкобаламіну типу cblG | Функціональна недостатність метіонінсинтетази типу cblG |
| zh | 甲基钴胺素缺乏症cblG型 | 功能性甲基钴胺素缺乏症cblG型 |
| tr | Metilkobalamin eksikliği tipi cblG | Fonksiyonel metiyonin sentaz eksikliği tipi cblG |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 250940 | E | validated | |
| ICD-10 | E72.1 | NTBT | attributed | validated |
| ICD-11 | 5C50.B | NTBT | index | validated |
| MONDO | 0009609 | E | validated | |
| MeSH | C565394 | E | validated | |
| UMLS | C1855128 | E | validated | |
| GARD | 3577 | 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:622Homocystinuria without methylmalonic aciduria
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare hematological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MTR | Disease-causing germline mutation(s) in | Assessed | HGNC:7468 | ENSG00000116984 | 156570 | 1q43 | 5-methyltetrahydrofolate-homocysteine methyltransferase | 20301503[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 33 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.
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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/2170
- This record as JSON: /data/d/2170.json