Details of Disease

Disease Name

X-linked sideroblastic anemia 1

anaemia sex-linked hypochromic sideroblastic; hereditary iron-loading Anaemia; sideroblastic anemia X-linked; SIDBA1; anemia hereditary sideroblastic; anemia, sideroblastic, X-linked; X chromosome-linked sideroblastic anemia; X chromosome-linked sideroblastic anaemia; anemia, hereditary sideroblastic; anemia, hypochromic; erythroid 5-aminolevulinate synthase deficiency; anemia sex-linked hypochromic sideroblastic; anemia, sideroblastic, 1; anaemia hereditary sideroblastic; hereditary iron-loading Anemia; sideroblastic anaemia X-linked; ANH1; sideroblastic anemia, X-linked; XLSA; X-linked sideroblastic anaemia; X-linked sideroblastic anemia; anemia, sideroblastic, 1, X-linked recessive

Disease Hierarchy

DISLT2PU: Inherited sideroblastic anemia

DIS4F3X1: Sideroblastic anemia

DIS3PN9X: X-linked disease

DISZUIKC: Inborn disorder of porphyrin metabolism

DISWBQC7: X-linked sideroblastic anemia 1

Disease Identifiers

MONDO ID

MONDO_0020721

MESH ID

C536761

UMLS CUI

C4551511

OMIM ID

300751

MedGen ID

1638704

Orphanet ID

75563

SNOMED CT ID

48983004

General Information of Disease (ID: DISWBQC7)

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	Strong	Biomarker	[1]
SLC25A38	DTV8SWX	Strong	Genetic Variation	[2]
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This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
ALAS2	DE437BY	Strong	X-linked	[3]
ALAS2	DE437BY	Strong	Genetic Variation	[2]
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This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SUCLA2	OTMZD4PW	Limited	Genetic Variation	[4]
INTS1	OT7TY1M1	moderate	Genetic Variation	[5]
NDUFB11	OTFG5777	moderate	Biomarker	[6]
ALAS2	OTJXOUCL	Strong	X-linked	[3]
FTMT	OTIUX6XG	Strong	Biomarker	[7]
GLRX5	OTE3L48D	Strong	Genetic Variation	[2]
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⏷ Show the Full List of 6 DOT(s)

References

1	Dimeric ferrochelatase bridges ABCB7 and ABCB10 homodimers in an architecturally defined molecular complex required for heme biosynthesis.Haematologica. 2019 Sep;104(9):1756-1767. doi: 10.3324/haematol.2018.214320. Epub 2019 Feb 14.
2	Regulation and tissue-specific expression of -aminolevulinic acid synthases in non-syndromic sideroblastic anemias and porphyrias.Mol Genet Metab. 2019 Nov;128(3):190-197. doi: 10.1016/j.ymgme.2019.01.015. Epub 2019 Jan 23.
3	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
4	X-linked sideroblastic anemia due to carboxyl-terminal ALAS2 mutations that cause loss of binding to the -subunit of succinyl-CoA synthetase (SUCLA2).J Biol Chem. 2012 Aug 17;287(34):28943-55. doi: 10.1074/jbc.M111.306423. Epub 2012 Jun 27.
5	Intron 1 GATA site enhances ALAS2 expression indispensably during erythroid differentiation.Nucleic Acids Res. 2017 Jan 25;45(2):657-671. doi: 10.1093/nar/gkw901. Epub 2016 Oct 7.
6	A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia.Blood. 2016 Oct 13;128(15):1913-1917. doi: 10.1182/blood-2016-05-719062. Epub 2016 Aug 3.
7	Mitochondrial ferritin expression in erythroid cells from patients with sideroblastic anemia.Blood. 2003 Mar 1;101(5):1996-2000. doi: 10.1182/blood-2002-07-2006. Epub 2002 Oct 24.