ORPHA:1195
Congenital atransferrinemia
Synonyms: Congenital hypotransferrinemia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital atransferrinemia | Congenital hypotransferrinemia |
| fr | Atransferrinémie congénitale | Hypotransferrinémie congénitale |
| de | Atransferrinämie, kongenitale | Hypotransferrinämie, kongenitale |
| es | Atransferrinemia congénita | Hipotransferrinemia congénita |
| it | Atransferrinemia congenita | |
| nl | Congenitale atransferrinemie | Congenitale hypotransferrinemie |
| pt | Atransferrinemia congénita | |
| pl | Wrodzona atransferynemia | Wrodzona hipotransferynemia |
| cs | Vrozená atransferinemie | Vrozená hypotransferinemie |
| uk | Вроджена атрансферинемія | Вроджена гіпотрансферинемія |
| zh | 先天性无转铁蛋白血症 | 先天性低转铁蛋白血症 |
| tr | Doğumsal atransferrinemi | Doğumsal hipotransferrinemi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 209300 | E | validated | |
| ICD-10 | E88.0 | NTBT | index | validated |
| ICD-11 | 5D0Y | NTBT | index | validated |
| MONDO | 0008846 | E | validated | |
| MeSH | C538259 | E | validated | |
| UMLS | C0521802 | E | validated | |
| GARD | 9595 | E | validated | |
| MedDRA | 10083911 | 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 (2):
- ORPHA:98360Constitutional anemia due to iron metabolism disorder
rare genetic diseases; rare hematological diseases - ORPHA:309842Disorder of iron metabolism and transport
rare inborn errors of metabolism; rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TF | Disease-causing germline mutation(s) in | Assessed | HGNC:11740 | ENSG00000091513 | 190000 | 3q22.1 | transferrin |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 16 cases | Worldwide | Case(s) | Validated | 19696475[PMID]_23888904[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
6 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001903 | Anemia | |
| Frequent (79-30%) | ||
| HP:0002719 | Recurrent infections | |
| Occasional (29-5%) | ||
| HP:0001626 | Abnormality of the cardiovascular system | |
| HP:0001732 | Abnormality of the pancreas | |
| HP:0001369 | Arthritis | |
| HP:0000821 | Hypothyroidism | |
Run the differential on the 1 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1195
- This record as JSON: /data/d/1195.json