IRIDA syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: PSEUDO-IRON-DEFICIENCY ANEMIA
IRON-HANDLING DISORDER, HEREDITARY
ANEMIA, HYPOCHROMIC MICROCYTIC, WITH DEFECT IN IRON METABOLISM
IRIDA
Iron-refractory iron deficiency anemia
Number of Symptoms 6
OrphanetNr: 209981
OMIM Id: 206200
ICD-10: D50.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 50 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Constitutional anemia due to iron metabolism disorder
 -Rare genetic disease
 -Rare hematologic disease

Symptom Information: Sort by abundance 

1
(HPO:0004840) Hypochromic microcytic anemia 15 / 7739
2
(HPO:0001891) Iron deficiency anemia 22 / 7739
3
(OMIM) Iron malabsorption 1 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
5
(OMIM) Inappropriately normal or increased plasma hepcidin 1 / 7739
6
(OMIM) Anemia, unresponsive to oral iron and only partially responsive to parenteral iron 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Buchanan and Sheehan (1981) described 2 brothers and a sister with microcytic anemia but no evidence of reduced iron intake or blood loss. The anemia failed to respond to oral iron therapy, and malabsorption of oral medicinal iron ...
Molecular genetics OMIM To determine the genetic basis of IRIDA, Finberg et al. (2008) selected the TMPRSS6 gene (609862), located in the critical linkage interval and encoding a type II transmembrane serine protease expressed primarily in liver, as a candidate gene. ...