Disease #00522

Official abbreviation -
Name amyloidosis, visceral (type VIII)
OMIM ID 105200
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 3
Phenotype entries for this disease 2
Associated with 5 genes APOA1, APOA2, B2M, FGA, LYZ
Associated tissues -
Disease features -
Remarks -


Individuals

3 entries on 1 page. Showing entries 1 - 3.
Legend  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age/Death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00019882 - PubMed: De Gracia 2006 family, 6 affecteds (index, 4 sisters, nephew) M ? Spain Caucasian - 0 - - renal failure, amyloidosis, visceral (type VIII) nephrotic syndrome, renal biopsy, revealing renal amyloidosis (IHC excluded AA type ); echocardiogram, electromyogram and liver examination ruled out extra-renal involvement APOA2 APOA2 1 6 Johan den Dunnen
00019883 - PubMed: Benson 2001 family, 4 affecteds (index, brother, mother, aunt) M - United States Caucasian 51y 0 - - amyloidosis, visceral (type VIII) renal failure APOA2 APOA2 1 4 Johan den Dunnen
00019987 - PubMed: Valleix 2012, Journal: Valleix 2012 3-generation family, 5 affecteds (3F, 2M) - no (France) - - 0 - - amyloidosis, visceral (type VIII) see paper; GI tract involvement, autonomic neuropathy, Sicca syndrome B2M B2M 1 5 Johan den Dunnen
Legend  

  Powered by LOVD v.3.0 Build 21d
LOVD software ©2004-2019 Leiden University Medical Center 		There are currently no updates.