|Terms & Properties|
Concept Unique Identifier (CUI): C0085576
Semantic Type: Disease or Syndrome
GARD Definition: Iron-refractory iron deficiency anemia (IRIDA) is a condition characterized by iron deficiency anemia (IDA) that is unresponsive to oral iron treatment but partially responsive to parenteral iron therapy (provided by injection or I.V.). It is currently unclear whether affected individuals are iron-deficient at birth; iron transfer in utero may be normal with depletion of iron stores occurring after birth. Despite laboratory evidence of severe iron deficiency, signs and symptoms of iron deficiency have been noted in only some of the reported cases and have included pallor, dry skin, and lesions at the corners of the mouth. Growth and development is reportedly normal. IRIDA is caused by mutations in the TMPRSS6 gene and is inherited in an autosomal recessive manner. - this information is from GARD/ORDR/NCATS.
HPO Definition: A kind of anemia in which the volume of the red blood cells is reduced. [HPO:probinson]
SNOMEDCT_US Definition: 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. 50 patients from 32 families of different ethnic origin have been described to date; however, it is likely that this condition is underdiagnosed. Most IRIDA patients have no major clinical signs, except for pallor, and have normal growth and development. IRIDA syndrome is due to mutations the TMPRSS6 gene encoding Matriptase 2, a transmembrane serine protease that plays an essential role in down-regulating hepcidin, the key regulator of iron homeostasis. Transmission is autosomal recessive.
SNOMEDCT_US Definition: A rare autosomal recessive iron metabolism disorder characterised by iron deficiency anaemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment. 50 patients from 32 families of different ethnic origin have been described to date; however, it is likely that this condition is underdiagnosed. Most IRIDA patients have no major clinical signs, except for pallor, and have normal growth and development. IRIDA syndrome is due to mutations the TMPRSS6 gene encoding Matriptase 2, a transmembrane serine protease that plays an essential role in down-regulating hepcidin, the key regulator of iron homeostasis. Transmission is autosomal recessive.
Synonyms & Abbreviations: (see Synonym Details)
|Anemia, hypochromic microcytic, with defect in iron metabolism|
|IRIDA (iron-refractory iron deficiency anaemia) syndrome|
|IRIDA (iron-refractory iron deficiency anemia) syndrome|
|Iron-handling disorder, hereditary|
|Iron-refractory iron deficiency anaemia|
|Iron-refractory iron deficiency anemia (disorder)|
|Iron-refractory iron deficiency anemia|
External Source Codes: (none)
|HPO_COMMENT||In normocytic anemia, the mean corpuscular volume (MCV) is below normal limits (>80 fl in adults).||HPO|
|MIMTYPEMEANING||Phenotype description, molecular basis known.||OMIM|
|SOS||A hereditary autosomal recessive iron deficiency characterized by hypochromic microcytic anemia that is unresponsive to oral iron and only partially responsive to parenteral iron. Laboratory results show inappropriately normal or increased plasma HEPCIDIN. Mutations in the TMPRSS6 gene have been identified. OMIM: 206200||MSH|
Additional Concept Data: (none)