Details of Disease | DrugMAP

General Information of Disease (ID: DIS04G9O)

Disease Name	Autosomal recessive sideroblastic anemia
Synonyms	congenital sideroblastic anemia; congenital sideroblastic anaemia; sideroblastic anemia, autosomal recessive; ARSA
Definition	Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin.
Disease Hierarchy	DISCPWH9: Autosomal recessive disease DISLT2PU: Inherited sideroblastic anemia DIS4F3X1: Sideroblastic anemia DIS04G9O: Autosomal recessive sideroblastic anemia
Disease Identifiers	MONDO ID MONDO_0016828 UMLS CUI C4274077 MedGen ID 895586 Orphanet ID 260305 SNOMED CT ID 717050005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HSPA9	TTMTPG3	Supportive	Autosomal recessive	[1]
HSPA9	TTMTPG3	Strong	GermlineCausalMutation	[1]
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This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC25A38	DTV8SWX	Supportive	Autosomal recessive	[2]
SLC25A38	DTV8SWX	Strong	Genetic Variation	[3]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HSPA9	OT4TMVS9	Supportive	Autosomal recessive	[1]
SLC25A38	OTP4WXFU	Supportive	Autosomal recessive	[2]
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References

1	Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9. Blood. 2015 Dec 17;126(25):2734-8. doi: 10.1182/blood-2015-09-659854. Epub 2015 Oct 21.
2	Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia. Nat Genet. 2009 Jun;41(6):651-3. doi: 10.1038/ng.359. Epub 2009 May 3.
3	Diagnosis and treatment of sideroblastic anemias: from defective heme synthesis to abnormal RNA splicing.Hematology Am Soc Hematol Educ Program. 2015;2015:19-25. doi: 10.1182/asheducation-2015.1.19.