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Iron-Refractory Iron Deficiency Anemia (CUI C0085576) Suggest changes to this concept
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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
IRIDA syndrome
IRIDA
Iron-handling disorder, hereditary
Iron-refractory iron deficiency anaemia
Iron-refractory iron deficiency anemia (disorder)
Iron-refractory iron deficiency anemia
Microcytic anemia
Pseudo-iron-deficiency anemia

External Source Codes:  (none)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
CTV3ID XUuby SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DISEASE_IDENTIFIER_ID 1325 GARD
DISEASE_IDENTIFIER_ID 1326 GARD
DISEASE_IDENTIFIER_ID 1327 GARD
DISEASE_IDENTIFIER_ID 1328 GARD
DISEASE_IDENTIFIER_ID 1329 GARD
EFFECTIVE_TIME 20170131 SNOMEDCT_US
FR 46 MSH
GENELOCUS ,2,2,q,1,2,-,q,1,3, OMIM
GENESYMBOL IRIDA OMIM
GENESYMBOL TMPRSS6 OMIM
HAS_GARD_PAGE true GARD
HM D018798 MSH
HPO_COMMENT In normocytic anemia, the mean corpuscular volume (MCV) is below normal limits (>80 fl in adults). HPO
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
MDA 20121105 MSH
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20150926 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/10957/iron-refractory-iron-deficiency-anemia/resources/1 GARD
RN 0 MSH
SC 3 MSH
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
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS D50.8 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~D50.8 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS D50.8 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~D50.8 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XUuby SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T800593 MSH
TERMUI T800596 MSH
TERMUI T800597 MSH
TERMUI T827333 MSH
TH OMIM (2013) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0085576

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