Details of Disease | DrugMAP

General Information of Disease (ID: DISEZK63)

Disease Name	Variant ABeta2M amyloidosis
Synonyms	autosomal dominant beta2-microglobulinic amyloidosis
Definition	A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjgren syndrome and autonomic neuropathy.
Disease Hierarchy	DIS5AYQ0: ABeta2M amyloidosis DIS1GS6H: Hereditary amyloidosis DISEZK63: Variant ABeta2M amyloidosis
Disease Identifiers	MONDO ID MONDO_0017810 UMLS CUI C4302669 MedGen ID 928338 Orphanet ID 314652 SNOMED CT ID 722292000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
B2M	TTY7FKA	Supportive	Autosomal dominant	[1]
B2M	TTY7FKA	Strong	GermlineCausalMutation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
B2M	OTDWN6NX	Supportive	Autosomal dominant	[1]
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References

1	Hereditary systemic amyloidosis due to Asp76Asn variant 2-microglobulin. N Engl J Med. 2012 Jun 14;366(24):2276-83. doi: 10.1056/NEJMoa1201356.