Details of Disease | DrugMAP

General Information of Disease (ID: DISUVZO0)

Disease Name	ATTRV122I amyloidosis
Synonyms	ATTRV122I-related amyloidosis
Definition	A rare hereditary Transthyretin (TTR)-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein.
Disease Hierarchy	DISL4MMU: Familial restrictive cardiomyopathy DISJP3J0: Transthyretin amyloidosis DISUVZO0: ATTRV122I amyloidosis
Disease Identifiers	MONDO ID MONDO_0019441 UMLS CUI C4275067 MedGen ID 907865 Orphanet ID 85451 SNOMED CT ID 715655000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TTR	OTAFXQRA	Supportive	Autosomal dominant	[1]
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This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TTR	TTPOYU7	Supportive	Autosomal dominant	[1]
TTR	TTPOYU7	moderate	Biomarker	[2]
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References

1	The V122I cardiomyopathy variant of transthyretin increases the velocity of rate-limiting tetramer dissociation, resulting in accelerated amyloidosis. Proc Natl Acad Sci U S A. 2001 Dec 18;98(26):14943-8. doi: 10.1073/pnas.261419998.
2	A new era of amyloidosis: the trends at a major US referral centre.Amyloid. 2019 Dec;26(4):192-196. doi: 10.1080/13506129.2019.1640672. Epub 2019 Jul 15.