Anemia, sideroblastic, 2, pyridoxine-refractory

Preferred Label : Anemia, sideroblastic, 2, pyridoxine-refractory;

Symbol : SIDBA2;

CISMeF acronym : SIDBA2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 25, member 38 gene (SLC25A38, 610819.0001); Caused by mutation in the glutaredoxin 5 gene (GLRX5, 609588.0001);

Laboratory abnormalities : Increased serum ferritin;

Prefixed ID : #205950;

Détails

Origin ID

205950;

UMLS CUI

C4225425;

Broader ORDO disease(s)
- Constitutional sideroblastic anemia [ORDO Disease]
Currated CISMeF NLP mapping
- Adult-onset autosomal recessive sideroblastic anemia [ORDO Disease]
- Adult-onset autosomal recessive sideroblastic anemia (disorder) [SNOMED CT concept]
- Autosomal recessive sideroblastic anaemia, pyridoxine-refractory [ICD-11 More detail]
- anemia, sideroblastic, Pyridoxine-Refractory, autosomal recessive [MeSH concept]
- anemia, sideroblastic, Pyridoxine-Refractory, autosomal recessive [MeSH Supplementary Concept]
- autosomal recessive pyridoxine-refractory sideroblastic anemia 2 [DO Concept]
DO Cross reference
- autosomal recessive pyridoxine-refractory sideroblastic anemia 2 [DO Concept]
Genes related to phenotype
- Solute carrier family 25, member 38 [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased mean corpuscular volume [HPO term]
- Heterogeneous [HPO term]
- Hypochromia [HPO term]
- Increased circulating ferritin concentration [HPO term]
- Infantile onset [HPO term]
Narrower ORDO disease(s)
- Constitutional sideroblastic anemia [ORDO Disease]
ORDO concept(s)
- Autosomal recessive sideroblastic anemia [ORDO Disease]
- Sideroblastic anemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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