FTH1-related iron overload
Synonyms: FTH1-associated iron overload
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- No data available
- Status
- active
A rare disorder of iron metabolism and transport characterized by elevated serum ferritin levels, increased serum iron, increased transferrin saturation, and heavy iron deposition in hepatocytes. Iron deposition has also been indicated in heart and bone marrow, while hematological examination of peripheral blood shows no abnormalities.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | FTH1-related iron overload | FTH1-associated iron overload |
| fr | Surcharge en fer liée à FTH1 | |
| de | FTH1-abhängige Eisenüberladung | |
| es | Sobrecarga de hierro ligada a FTH1 | Sobrecarga de hierro asociada a FTH1 |
| it | Sovraccarico di ferro legato a FTH1 | Sovraccarico di ferro associato a FTH1 |
| nl | FTH1-gerelateerde ijzerstapeling | FTH1-geassocieerde ijzerstapeling |
| pt | Sobrecarga de ferro FTH1-relacionada | |
| pl | Przeładowanie żelazem związane z FTH1 | = en |
| cs | Přetížení organizmu železem spojené s FTH1 | Přetížení organizmu železem asociované s FTH1 |
| uk | Перевантаження залізом, повязане з FTH1 | FTH1-асоційоване перевантаження залізом |
| zh | FTH1基因相关铁超负荷 | FTH1基因相关铁超超载 |
| tr | FTH1-ilişkili aşırı demir yükü | FTH1-ilişkili aşırı demir yükü |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615517 | BTNT | validated | |
| OMIM | 620669 | BTNT | validated | |
| ICD-10 | E83.1 | NTBT | attributed | validated |
| ICD-11 | 5C64.10 | NTBT | attributed | validated |
| MONDO | 0014225 | E | validated | |
| UMLS | C1851316 | E | validated | |
| GARD | 13472 | 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 (2):
- ORPHA:309842Disorder of iron metabolism and transport
rare inborn errors of metabolism; rare genetic diseases - ORPHA:101940Rare metabolic liver disease
rare genetic diseases; rare hepatic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FTH1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3976 | ENSG00000167996 | 134770 | 11q12.3 | ferritin heavy chain 1 | 11389486[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 11389486[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_11389486[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/247790
- This record as JSON: /data/d/247790.json