Iron-refractory iron deficiency anemia

Preferred Label : Iron-refractory iron deficiency anemia;

Symbol : IRIDA;

CISMeF acronym : IRIDA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Anemia, hypochromic microcytic, with defect in iron metabolism; Iron-handling disorder, hereditary; Pseudo-iron-deficiency anemia;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the transmembrane protease, serine 6 gene (TMPRSS6, 609862.0001);

Laboratory abnormalities : Inappropriately normal or increased plasma hepcidin;

Prefixed ID : #206200;

Details

Origin ID

206200;

UMLS CUI

C0085576;

Automatic exact mappings (from CISMeF team)
- TMPRSS6 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- IRIDA syndrome [ORDO Disease]
- Iron-Refractory iron deficiency anemia [MeSH concept]
- Iron-Refractory iron deficiency anemia [MeSH Supplementary Concept]
- Iron-refractory iron deficiency anaemia [ICD-11 More detail]
- Iron-refractory iron deficiency anemia (disorder) [SNOMED CT concept]
- iron refractory iron deficiency anemia [Disease (Nov.)]
DO Cross reference
- microcytic anemia [DO Concept]
Genes related to phenotype
- Transmembrane protease, serine 6 [OMIM gene]
HPO term(s)
- Anisocytosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Elevated hepcidin level [HPO term]
- Hypochromic microcytic anemia [HPO term]
- Poikilocytosis [HPO term]
ORDO concept(s)
- IRIDA syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ANAEMIA MICROCYTIC [WHO-ART Preferred Term]
- Anaemia microcytic [MedDRA LLT]
- Anemia microcytic [MedDRA LLT]
- IRIDA syndrome [ORDO Disease]
- Iron-Refractory iron deficiency anemia [MeSH Supplementary Concept]
- Iron-Refractory iron deficiency anemia [MeSH concept]
- Iron-refractory iron deficiency anaemia [ICD-11 More detail]
- Iron-refractory iron deficiency anemia (disorder) [SNOMED CT concept]
- Microcytic Anemia [NCIt concept]
- Microcytic anaemia [MedDRA Preferred Term]
- Microcytic anemia [MedDRA LLT]
- Microcytic anemia [HPO term]
- Microcytic anemia (disorder) [SNOMED CT concept]
- iron refractory iron deficiency anemia [Disease (Nov.)]
- microcytic anemia [DO Concept]

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