ORPHA:309842
Disorder of iron metabolism and transport
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Disorder of iron metabolism and transport | |
| fr | Anomalie du transport et du métabolisme du fer | |
| de | Eisen-Stoffwechsel- und Transportstörungen | |
| es | Trastornos del metabolismo y del transporte del hierro | |
| it | Difetto del trasporto e del metabolismo del ferro | |
| nl | Stoornis van ijzermetabolisme en transport | |
| pt | Alteração do metabolismo e transporte de ferro | |
| pl | Zaburzenia metabolizmu i transportu żelaza | |
| cs | Poruchy metabolismu a transportu železa | |
| uk | Порушення метаболізму та транспорту заліза | |
| zh | 铁代谢和转运障碍 | |
| tr | Demir metabolizması ve taşınım bozuklukluğu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E83.1 | E | specific | validated |
| MONDO | 0017763 | E | validated | |
| MONDO | 17763 | E | validated | |
| UMLS | C5681031 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:309836Disorder of mineral absorption and transport
rare inborn errors of metabolism; rare genetic diseases
Children (12):
- ORPHA:48818Aceruloplasminemia
- ORPHA:1195Congenital atransferrinemia
- ORPHA:139507Dietary iron overload disease
- ORPHA:247790FTH1-related iron overload
- ORPHA:648562Ferroportin disease
- ORPHA:163Hereditary hyperferritinemia-cataract syndrome
- ORPHA:440731L-ferritin deficiency
- ORPHA:83642Microcytic anemia with liver iron overload
- ORPHA:446Neonatal hemochromatosis
- ORPHA:157846Neuroferritinopathy
- ORPHA:727296Progressive muscle weakness-respiratory insufficiency-learning difficulty syndrome
- ORPHA:220489Rare hereditary hemochromatosis
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/309842
- This record as JSON: /data/d/309842.json