Details of Disease

General Information of Disease (ID: DISTW0J6)

Disease Name Congenital anemia
Synonyms congenital anemia (disease); congenital anemia; congenital anaemia (disease)
Definition Anemia, the cause of which is present at birth.
Disease Hierarchy
DISI8W45: Anaemia
DISAWDAB: Congenital hematological disorder
DISTW0J6: Congenital anemia
Disease Identifiers
MONDO ID
MONDO_0000577
UMLS CUI
C0158995
MedGen ID
102361
SNOMED CT ID
63565007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CDAN1 OTCVZRG6 Strong Biomarker [1]
CSDE1 OT15D7GH Strong Altered Expression [2]
HBE1 OTJPKMX4 Strong Biomarker [3]
HBZ OTMHGFSS Strong Biomarker [3]
TSPYL2 OTGGW2EF Strong Biomarker [1]
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References

1 A novel case of haemoglobin H disease associated with clinical and morphological characteristics of congenital dyserythropoietic anaemia type I.Eur J Haematol. 2002 Apr;68(4):247-52. doi: 10.1034/j.1600-0609.2002.01590.x.
2 Csde1 binds transcripts involved in protein homeostasis and controls their expression in an erythroid cell line.Sci Rep. 2018 Feb 8;8(1):2628. doi: 10.1038/s41598-018-20518-7.
3 Expression of embryonic zeta-globin and epsilon-globin chains in a 10-year-old girl with congenital anemia.Blood. 1993 Mar 15;81(6):1636-40.