Details of Disease | DrugMAP

General Information of Disease (ID: DISJMVOX)

Disease Name	X-linked sideroblastic anemia with ataxia
Synonyms	Pagon Bird Detter syndrome; X-linked sideroblastic Anaemia and ataxia; anemia, sideroblastic, and spinocerebellar ataxia; X-linked sideroblastic anemia and spinocerebellar ataxia; X-linked sideroblastic anaemia and spinocerebellar ataxia; anemia, Sex-linked hypochromic Siderobla; Xlsa-A; X-linked sideroblastic Anemia and ataxia; X-linked sideroblastic anemia and ataxia; anemia, sideroblastic, with ataxia, X-linked recessive; XLSA-A; Pagon-Bird-Detter syndrome; anemia sideroblastic and spinocerebellar ataxia; X-linked sideroblastic anemia with spinocerebellar ataxia; X-linked sideroblastic anaemia and ataxia; X-linked sideroblastic anaemia with spinocerebellar ataxia; sideroblastic anaemia with spinocerebellar ataxia; X-linked sideroblastic anemia with ataxia; ASAT; sideroblastic anemia with spinocerebellar ataxia; anaemia sideroblastic and spinocerebellar ataxia
Definition	A rare syndromic, inherited form of sideroblastic anemia in which the cause of the disease is a mutation in the ABCB7 gene and is characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia.
Disease Hierarchy	DISKAHA3: Mitochondrial disease DISLT2PU: Inherited sideroblastic anemia DISRWZ8R: X-linked cerebellar ataxia DISJMVOX: X-linked sideroblastic anemia with ataxia
Disease Identifiers	MONDO ID MONDO_0010524 MESH ID C536358 UMLS CUI C1845028 OMIM ID 301310 MedGen ID 335078 Orphanet ID 2802 SNOMED CT ID 719816006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCB7	DT2IMBW	Limited	Biomarker	[1]
ABCB7	DT2IMBW	Definitive	X-linked recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ABCB7	OTDNTHNR	Definitive	X-linked recessive	[2]
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References

1	Congenital sideroblastic anemia: Advances in gene mutations and pathophysiology.Gene. 2018 Aug 20;668:182-189. doi: 10.1016/j.gene.2018.05.074. Epub 2018 May 19.
2	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.