Genetic hyperferritinemia without iron overload
Synonyms: Benign hyperferritinemia
- Type
- Biological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- No data available
- Status
- active
Genetic hyperferritinemia without iron overload is a rare biological anomaly defined as high serum ferritin levels without elevations of transferrin saturation, tissue or serum iron and characterized by an apparently asymptomatic clinical phenotype.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Genetic hyperferritinemia without iron overload | Benign hyperferritinemia |
| fr | Hyperferritinémie génétique sans surcharge en fer | Hyperferritinémie bénigne |
| de | Hyperferritinämie, hereditäre, ohne Eisenüberladung | Hyperferritinämie, benigne |
| es | Hiperferritinemia genética sin sobrecarga de hierro | Hiperferritinemia benigna |
| it | Iperferritinemia genetica senza sovraccarico di ferro | |
| nl | Genetische hyperferritinemie zonder ijzerstapeling | Goedaardige hyperferritinemie |
| pt | Hiperferritinemia genética sem sobrecarga de ferro | |
| pl | Hiperferrytynemia genetyczna bez przeładowania żelazem | Hiperferrytynemia łagodna |
| cs | Genetická hyperferitinémie bez přetížení organismu železem | = en |
| uk | Генетично обумовлена гіперферритинемія без перевантаження залізом | Доброякісна гіперферритинемія |
| zh | 遗传性高铁蛋白血症不伴铁超载 | 良性高铁蛋白血症 |
| tr | Aşırı demir yüklemesi olmayan genetik hiperferritinemi | Selim hiperferritinemi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | R77.8 | NTBT | attributed | not yet validated |
| MONDO | 0016788 | E | validated | |
| UMLS | C4707880 | 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:447874Biological anomaly without phenotypic characterization
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FTL | Disease-causing germline mutation(s) in | Assessed | HGNC:3999 | ENSG00000087086 | 134790 | 19q13.33 | ferritin light chain | 19176363[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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.
HPO phenotypes
8 annotations · validated 2017-06-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0003281 | Increased circulating ferritin concentration | |
| Occasional (29-5%) | ||
| HP:0002829 | Arthralgia | |
| HP:0012378 | Fatigue | |
| HP:0001808 | Fragile nails | |
| Very rare (<4-1%) | ||
| HP:0000518 | Cataract | |
| Excluded (0%) | ||
| HP:0040130 | Abnormal serum iron | |
| HP:0040135 | Abnormal transferrin saturation | |
| HP:0012465 | Elevated hepatic iron concentration | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 9378401[PMID]_19176363[PMID]_28052375[PMID]_7492760[PMID]_7493028[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/254704
- This record as JSON: /data/d/254704.json