Details of Disease

General Information of Disease (ID: DIS3T984)

Disease Name Sideroblastic anemia 2
Synonyms
anemia, sideroblastic, pyridoxine-refractory, autosomal recessive; pyridoxine refractory sideroblastic anaemia; sideroblastic anemia pyridoxine-refractory autosomal recessive; anemia, sideroblastic, 2, pyridoxine-refractory; sideroblastic anaemia pyridoxine-refractory autosomal recessive; pyridoxine refractory sideroblastic anemia; SIDBA2
Disease Hierarchy
DIS04G9O: Autosomal recessive sideroblastic anemia
DIS3T984: Sideroblastic anemia 2
Disease Identifiers
MONDO ID
MONDO_0008785
UMLS CUI
C4225425
OMIM ID
205950
MedGen ID
899109

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
SLC25A38 DTV8SWX Strong Genetic Variation [1]
SLC25A38 DTV8SWX Definitive Autosomal recessive [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GLRX5 OTE3L48D Strong Biomarker [3]
SLC25A38 OTP4WXFU Definitive Autosomal recessive [2]
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References

1 Mutation analysis of Chinese sporadic congenital sideroblastic anemia by targeted capture sequencing.J Hematol Oncol. 2015 May 20;8:55. doi: 10.1186/s13045-015-0154-0.
2 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
3 Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.Brain. 2016 Nov 1;139(11):2844-2854. doi: 10.1093/brain/aww221.