Microcytic anemia with liver iron overload
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare constitutional anemia with liver iron overload characterized by severe hypochromic microcytic anemia present at birth and hepatic iron overload due to a defect in iron transport to erythroid cells. Patients are present with erythroid hyperplasia with signs of abnormal erythroid maturation, consistently high serum iron levels and serum transferrin receptors.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microcytic anemia with liver iron overload | |
| fr | Anémie microcytaire avec surcharge hépatique en fer | |
| de | Mikrozytische Anämie mit hepatischer Eisenüberladung | |
| es | Anemia microcítica con sobrecarga hepática de hierro | |
| it | Anemia microcitica associata a sovraccarico epatico di ferro | |
| nl | Microcytaire anemie met ijzerstapeling in lever | Microcytische anemie met ijzerstapeling in lever |
| pt | Anemia microcítica com sobrecarga hepática de ferro | |
| pl | Niedokrwistość mikrocytarna z wątrobą przeciążoną żelazem | |
| cs | Mikrocytární anémie s přetížením jater železem | |
| uk | Мікроцитарна анемія з перевантаженням печінки залізом | |
| zh | 小红细胞贫血伴肝脏铁过载 | |
| tr | Karaciğerde aşırı demir yükü ile seyreden mikrositik anemi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 206100 | E | validated | |
| ICD-10 | D50.8 | NTBT | attributed | validated |
| ICD-11 | 3A00.Y | NTBT | index | validated |
| MONDO | 0008787 | E | validated | |
| MeSH | C567144 | E | validated | |
| UMLS | C2673913 | E | validated | |
| GARD | 12360 | 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: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.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC11A2 | Disease-causing germline mutation(s) in | Assessed | HGNC:10908 | ENSG00000110911 | 600523 | 12q13.12 | solute carrier family 11 member 2 | 16160008[PMID]_16439678[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 16439678[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_16439678[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/83642
- This record as JSON: /data/d/83642.json