Anemia, sideroblastic, 3, pyridoxine-refractory

Preferred Label : Anemia, sideroblastic, 3, pyridoxine-refractory;

Symbol : SIDBA3;

CISMeF acronym : SIDBA3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the glutaredoxin 5 gene (GLRX5, 609588.0001);

Laboratory abnormalities : Increased serum ferritin;

Prefixed ID : #616860;

Details

Origin ID

616860;

UMLS CUI

C4225155;

Currated CISMeF NLP mapping
- autosomal recessive pyridoxine-refractory sideroblastic anemia 3 [DO Concept]
DO Cross reference
- autosomal recessive pyridoxine-refractory sideroblastic anemia 3 [DO Concept]
Genes related to phenotype
- Glutaredoxin 5 [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Anisocytosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cirrhosis [HPO term]
- Conjugated hyperbilirubinemia [HPO term]
- Decreased mean corpuscular volume [HPO term]
- Elevated circulating hepatic transaminase concentration [HPO term]
- Elevated hepatic iron concentration [HPO term]
- Erythroid hyperplasia [HPO term]
- Hepatomegaly [HPO term]
- Hepatosplenomegaly [HPO term]
- Hypochromia [HPO term]
- Increased circulating ferritin concentration [HPO term]
- Jaundice [HPO term]
- Splenomegaly [HPO term]
- Type II diabetes mellitus [HPO term]
ORDO concept(s)
- Adult-onset autosomal recessive sideroblastic anemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- autosomal recessive pyridoxine-refractory sideroblastic anemia 3 [DO Concept]

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