Microcytic anemia with liver iron overload

General Information (adopted from Orphanet):

Synonyms, Signs: AHMIO1
Number of Symptoms 9
OrphanetNr: 83642
OMIM Id: 206100
ICD-10: D50.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3 cases [Orphanet]
Inheritance: Unknown
[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
Disorder of iron metabolism and transport
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0001392) Abnormality of the liver 28 / 7739
2
(HPO:0001903) Anemia 289 / 7739
3
(HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
5
(OMIM) Marrow iron stores absent 1 / 7739
6
(OMIM) Iron deposition 3 / 7739
7
(OMIM) Hypochromia 6 / 7739
8
(OMIM) Serum iron high 1 / 7739
9
(MedDRA:10027540) Microcytosis 5 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Shahidi et al. (1964) described hypochromic microcytic anemia in a brother and sister of French-Canadian extraction. An error in iron metabolism was characterized by high serum iron, massive hepatic iron deposition, and absence of stainable bone marrow iron ...
Molecular genetics OMIM In a female patient with severe hypochromic microcytic anemia and iron overload in whom no mutations were identified in the TFR1 (TFRC; 190010) or FPN1 (SLC40A1; 604653) gene, Mims et al. (2005) identified homozygosity for a missense mutation ...