Details of Disease

General Information of Disease (ID: DISLT2PU)

• Disease Name: Inherited sideroblastic anemia
• Synonyms: constitutional sideroblastic anemia; constitutional sideroblastic anaemia
• Definition: We are pretty sure Orphanet means inherited/hereditary. This was renamed from constitutional sideroblastic anemia.
• Disease Hierarchy:
  DISYKSRF: Genetic disease
  DIS4F3X1: Sideroblastic anemia
  DISLT2PU: Inherited sideroblastic anemia
• Disease Identifiers:
  MONDO ID: MONDO_0020099
  UMLS CUI: C0221018
  MedGen ID: 65119
  Orphanet ID: 98362

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FECH	TTQ6VF4	Strong	Biomarker	[1]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC25A38	DTV8SWX	Strong	Biomarker	[1]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
ALAS2	DE437BY	Strong	Biomarker	[1]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GLRX5	OTE3L48D	Strong	Genetic Variation	[1]
TRNT1	OTD57ILL	Strong	Genetic Variation	[2]

References

• [1] GLRX5 mutations impair heme biosynthetic enzymes ALA synthase 2 and ferrochelatase in Human congenital sideroblastic anemia.Mol Genet Metab. 2019 Nov;128(3):342-351. doi: 10.1016/j.ymgme.2018.12.012. Epub 2019 Jan 7.
• [2] In vitro studies of disease-linked variants of human tRNA nucleotidyltransferase reveal decreased thermal stability and altered catalytic activity.Biochim Biophys Acta Proteins Proteom. 2018 Apr;1866(4):527-540. doi: 10.1016/j.bbapap.2018.02.002. Epub 2018 Feb 16.