IRIDA syndrome
Synonyms: Iron-refractory iron deficiency anemia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | IRIDA syndrome | Iron-refractory iron deficiency anemia |
| fr | Syndrome IRIDA | Anémie par déficit en fer réfractaire au traitement par le fer |
| de | IRIDA-Syndrom | Eisenmangelanämie, eisenrefraktäre |
| es | Síndrome IRIDA | Anemia por deficiencia de hierro resistente al tratamiento por hierro |
| it | Sindrome IRIDA | Anemia sideropenica refrattaria al trattamento con ferro |
| nl | IRIDA-syndroom | IJzer-refractaire ijzerdeficiëntieanemie |
| pt | Síndrome IRIDA | |
| pl | Zespół IRIDA | Oporna na żelazo niedokrwistość z niedoboru żelaza |
| cs | IRIDA syndrom | Anémie z nedostatku železa nereagující na léčbu železem |
| uk | Синдром IRIDA | Залізорезистентна залізодефіцитна анемія |
| zh | 铁难治性缺铁性贫血综合征 | 铁难治性缺铁性贫血 |
| tr | IRIDA sendromu | Demire dirençli demir eksikliği anemisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 206200 | E | validated | |
| ICD-10 | D50.8 | NTBT | attributed | validated |
| ICD-11 | 3A00.Y | NTBT | index | validated |
| MONDO | 0008788 | E | validated | |
| MeSH | C562385 | E | validated | |
| UMLS | C0085576 | E | validated | |
| GARD | 10957 | 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:98360Constitutional anemia due to iron metabolism disorder
rare genetic diseases; rare hematological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TMPRSS6 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:16517 | ENSG00000187045 | 609862 | 22q12.3 | transmembrane serine protease 6 | 19357398[PMID]_20232450[PMID]_25252070[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 75 cases | Worldwide | Case(s) | Validated | 28491880[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28491880[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
10 annotations · validated 2024-03-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0025066 | Decreased mean corpuscular volume | |
| HP:0004840 | Hypochromic microcytic anemia | |
| HP:0001891 | Iron deficiency anemia | |
| Frequent (79-30%) | ||
| HP:0040303 | Decreased serum iron | |
| HP:0012464 | Decreased transferrin saturation | |
| HP:0031877 | Elevated circulating hepcidin concentration | |
| Occasional (29-5%) | ||
| HP:0001017 | Anemic pallor | |
| HP:0030318 | Angular cheilitis | |
| Very rare (<4-1%) | ||
| HP:0001596 | Alopecia | |
| HP:0001598 | Concave nail | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 25064705[PMID]_30115430[PMID]_25805669[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/209981
- This record as JSON: /data/d/209981.json