Haptocorrin deficiency
Synonyms: TCI deficiency · Transcobalamin I deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult, Elderly
- Status
- active
A rare, genetic, benign disorder of cobalamin transport, due to variable degrees of transcobalamin I deficiency, characterized by mildly low to almost undetectable plasma transcobalamin I levels and slighly low to absent serum cobalamin levels. Normal methylmalonic acid and homocysteine serum values and absence of megaloblastic anemia are reported. No specific clinical manifestations are associated and patients are typically asymptomatic.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Haptocorrin deficiency | TCI deficiency · Transcobalamin I deficiency |
| fr | Déficit en haptocorrine | Déficit en TCI · Déficit en transcobalamine I |
| de | Transcobalamin I-Mangel | Transcobalamin I-Defizienz · Haptocorrin-Defizienz · Haptocorrin-Mangel · TCI-Mangel · Transcobalamin-1-Defekt |
| es | Deficiencia de haptocorrina | Deficiencia de TCI · Deficiencia de transcobalamina I |
| it | Deficit di aptocorrina | Deficit di TCI · Deficit di transcobalamina I |
| nl | Deficiëntie van haptocorrine | TCI-deficiëntie · Deficiëntie van transcobalamine I |
| pt | Deficiência de transcobalamina I | Deficiência TCI · Deficiência de haptocorina · Deficiência de transcobalamina-1 |
| pl | Niedobór transkobalaminy I | Niedobór TCI · Niedobór haptokoryny · Niedobór transkobalaminy-1 |
| cs | Deficit proteinu R | = en |
| uk | Дефіцит транскобаламіну I | Дефіцит гаптокоррину · Дефіцит TCI · Дефіцит транскобаламіну-1 |
| zh | 钴胺转运蛋白I缺乏症 | 转钴胺素类1缺乏症 |
| tr | Transkobalamin I eksikliği | TCI eksikliği · Haptokorrin eksikliği · Transkobalamin-1 eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 193090 | E | validated | |
| ICD-10 | E53.8 | NTBT | attributed | validated |
| ICD-11 | 5C63.0 | NTBT | index | validated |
| MONDO | 0008659 | E | validated | |
| MeSH | C562798 | E | validated | |
| UMLS | C0342700 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:79171Disorder of cobalamin metabolism and transport
rare inborn errors of metabolism; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TCN1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11652 | ENSG00000134827 | 189905 | 11q12.1 | transcobalamin 1 | 19686235[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 33685478[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2967
- This record as JSON: /data/d/2967.json