ORPHA:859
Transcobalamin II deficiency
Synonyms: Inherited deficiency of transcobalamin II
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Transcobalamin II deficiency | Inherited deficiency of transcobalamin II |
| fr | Déficit en transcobalamine II | Déficit héréditaire en transcobalamine II |
| de | Transcobalamin II-Mangel | Transcobalamin-2-Defekt · Transcobalamin II-Defizienz · Hereditärer Transcobalamin II-Mangel |
| es | Deficiencia de transcobalamina II | Deficiencia de transcobalamina hereditaria II |
| it | Deficit di transcobalamina | Deficit ereditario di transcobalamina II |
| nl | Transcobalamine II-deficiëntie | Erfelijke deficiëntie van transcobalamine II |
| pt | Deficiência de transcobalamina II | Deficiência de transcobalamina II hereditária |
| pl | Niedobór transkobalaminy | Niedobór transkobalaminy II · Wrodzony Niedobór transkobalaminy |
| cs | Deficit transkobalaminu | Deficit transkobalaminu II · Dědičný deficit transkobalaminu |
| uk | Дефіцит транскобаламіну | Спадковий дефіцит транскобаламіну · Дефіцит транскобаламіну II |
| zh | 转钴胺素缺乏症 | 遗传性跨钴胺缺乏症 |
| tr | Transkobalamin eksikliği | Transkobalamin II eksikliği · Kalıtsal transkobalamin eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 275350 | E | validated | |
| ICD-10 | D51.2 | NTBT | attributed | validated |
| ICD-11 | 3A01.0 | NTBT | index | validated |
| MONDO | 0010149 | E | validated | |
| UMLS | C0342701 | E | validated | |
| MedDRA | 10084086 | 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 (3):
- ORPHA:98396Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder
rare genetic diseases; rare hematological diseases - ORPHA:79171Disorder of cobalamin metabolism and transport
rare inborn errors of metabolism; rare genetic diseases - ORPHA:331217Syndrome with combined immunodeficiency
rare genetic diseases; rare immunological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TCN2 | Disease-causing germline mutation(s) in | Assessed | HGNC:11653 | ENSG00000185339 | 613441 | 22q12.2 | transcobalamin 2 | 20607612[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 40 cases | Worldwide | Case(s) | Validated | 21312325[PMID] | |
| 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
12 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003220 | Abnormality of chromosome stability | |
| HP:0001919 | Acute kidney injury | |
| HP:0001980 | Megaloblastic bone marrow | |
| HP:0012120 | Methylmalonic aciduria | |
| Frequent (79-30%) | ||
| HP:0002720 | Decreased circulating IgA level | |
| HP:0004315 | Decreased circulating IgG level | |
| HP:0004313 | Decreased circulating antibody level | |
| HP:0002850 | Decreased circulating total IgM | |
| HP:0001875 | Decreased total neutrophil count | |
| HP:0001888 | Lymphopenia | |
| HP:0001876 | Pancytopenia | |
| HP:0001873 | Thrombocytopenia | |
Run the differential on the 4 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/859
- This record as JSON: /data/d/859.json