Details of Disease | DrugMAP

General Information of Disease (ID: DIS7BVSW)

Disease Name	Familial visceral amyloidosis
Synonyms	amyloidosis, systemic Nonneuropathic; amyloidosis VIII; hereditary amyloidosis with primary renal involement; amyloidosis systemic nonneuropathic; amyloidosis familial renal; amyloidosis, familial visceral; amyloidosis familial visceral; amyloidosis 8; amyloidosis, 3 or more types; amyloidosis, familial renal; Ostertag type amyloidosis; amyloidosis, Ostertag type; amyloidosis, renal; systemic nonneuropathic amyloidosis; familial renal amyloidosis; hereditary amyloid nephropathy; hereditary renal amyloidosis; German type amyloidosis; familial amyloid nephropathy
Disease Hierarchy	DIS1GS6H: Hereditary amyloidosis DIS7BVSW: Familial visceral amyloidosis
Disease Identifiers	MONDO ID MONDO_0007099 MESH ID C538249 UMLS CUI C0268389 OMIM ID 105200 MedGen ID 82799 Orphanet ID 85450 SNOMED CT ID 66451004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 7 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
B2M	TTY7FKA	Limited	Autosomal dominant	[1]
B2M	TTY7FKA	Limited	Biomarker	[1]
APOA1	TT5S8DR	moderate	Biomarker	[2]
LYZ	TTAOZBW	moderate	Biomarker	[3]
GSN	TTUH7OM	Strong	Biomarker	[4]
LYZ	TTAOZBW	Strong	Autosomal dominant	[5]
APOA1	TT7GN3U	Definitive	Autosomal dominant	[6]
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⏷ Show the Full List of 7 DTT(s)

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
B2M	OTDWN6NX	Limited	Autosomal dominant	[1]
FGA	OTMIHY80	Strong	Autosomal dominant	[7]
LYZ	OTD7H0G6	Strong	Autosomal dominant	[5]
APOA1	OT5THARI	Definitive	Autosomal dominant	[6]
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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.
2	A novel APOA1 mutation in a patient with renal amyloidosis: unveiling amyloid by next-generation sequencing.Amyloid. 2019 Dec;26(4):253-254. doi: 10.1080/13506129.2019.1660157. Epub 2019 Sep 4.
3	Hereditary lysozyme amyloidosis -- phenotypic heterogeneity and the role of solid organ transplantation.J Intern Med. 2012 Jul;272(1):36-44. doi: 10.1111/j.1365-2796.2011.02470.x. Epub 2011 Nov 15.
4	Three forms of dominant amyloid neuropathy.Johns Hopkins Med J. 1981 Dec;149(6):239-47.
5	Mechanistic studies of the folding of human lysozyme and the origin of amyloidogenic behavior in its disease-related variants. Biochemistry. 1999 May 18;38(20):6419-27. doi: 10.1021/bi983037t.
6	Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. N Engl J Med. 2002 Jun 6;346(23):1786-91. doi: 10.1056/NEJMoa013354.
7	Curative hepatorenal transplantation in systemic amyloidosis caused by the Glu526Val fibrinogen alpha-chain variant in an English family. QJM. 2000 May;93(5):269-75. doi: 10.1093/qjmed/93.5.269.