Details of Disease

General Information of Disease (ID: DISVFTJ9)

Disease Name Idiopathic aplastic anemia
Synonyms
aplastic Anemia, susceptibility to; aplastic anaemia; anemia aplastic; anaemia aplastic; aplastic anemia; aplastic anaemia idiopathic; secondary aplastic anaemia; secondary aplastic anemia; aplastic anemia idiopathic; idiopathic bone marrow failure; idiopathic aplastic aplasia
Definition Aplastic anemia without a known cause.
Disease Hierarchy
DISCMKMX: Acquired aplastic anemia
DISBBY0S: Idiopathic disease
DISVFTJ9: Idiopathic aplastic anemia
Disease Identifiers
MONDO ID
MONDO_0012197
MESH ID
C538494
UMLS CUI
C0348890
MedGen ID
87595
Orphanet ID
88
SNOMED CT ID
191256002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
TERT TTQY2EJ Strong SusceptibilityMutation [1]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NBN OT73B5MD Limited Autosomal dominant [2]
PRF1 OTFVXD7H Strong SusceptibilityMutation [3]
SBDS OTHDCCIB Strong SusceptibilityMutation [4]
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References

1 Functional characterization of natural telomerase mutations found in patients with hematologic disorders.Blood. 2007 Jan 15;109(2):524-32. doi: 10.1182/blood-2006-07-035089. Epub 2006 Sep 21.
2 [Internuclear ophthalmoplegia]. Rev Neurol (Paris). 1979 Jul-Aug;135(6-7):485-513.
3 Perforin gene mutations in patients with acquired aplastic anemia.Blood. 2007 Jun 15;109(12):5234-7. doi: 10.1182/blood-2006-12-063495. Epub 2007 Feb 20.
4 Mutations in the SBDS gene in acquired aplastic anemia.Blood. 2007 Aug 15;110(4):1141-6. doi: 10.1182/blood-2007-03-080044. Epub 2007 May 3.