Severe congenital hypochromic anemia with ringed sideroblasts

STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia (see this term) except for increased erythrocyte protoporphyrin levels.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 20

HPO ID Term Frequency
HP:0001896 Reticulocytopenia Very frequent (99-80%)
HP:0001903 Anemia Very frequent (99-80%)
HP:0003281 Increased serum ferritin Very frequent (99-80%)
HP:0012464 Decreased transferrin saturation Very frequent (99-80%)
HP:0000027 Azoospermia Frequent (79-30%)
HP:0000135 Hypogonadism Frequent (79-30%)
HP:0000864 Abnormality of the hypothalamus-pituitary axis Frequent (79-30%)
HP:0000980 Pallor Frequent (79-30%)
HP:0002910 Elevated hepatic transaminase Frequent (79-30%)
HP:0003452 Increased serum iron Frequent (79-30%)
HP:0004823 Anisopoikilocytosis Frequent (79-30%)
HP:0012378 Fatigue Frequent (79-30%)
HP:0012465 Elevated hepatic iron concentration Frequent (79-30%)
HP:0025066 Decreased mean corpuscular volume Frequent (79-30%)
HP:0000821 Hypothyroidism Occasional (29-5%)
HP:0000846 Adrenal insufficiency Occasional (29-5%)
HP:0000957 Cafe-au-lait spot Occasional (29-5%)
HP:0001433 Hepatosplenomegaly Occasional (29-5%)
HP:0001510 Growth delay Occasional (29-5%)
HP:0012134 Dysplastic erythropoesis Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
STEAP3 STEAP3 metalloreductase 55240