Preferred Label : Familial Amyloid Polyneuropathy Type II;
NCIt related terms : Indiana-Maryland type amyloid polyneuropathy;
NCIt definition : A subtype of hereditary transthyretin amyloidosis with polyneuropathy characterized
by a course of disease with polyneuropathy beginning at the hands and frequent carpal
tunnel syndrome operations. Originally thought to be the result of the same genetic
mutation, it was determined that substitution of histidine for leucine at position
58 of the TTR gene (L58H) results in the Maryland/German variant, whereas substitution
of serine for isoleucine at position 84 of transthyretin (I84S) results in the Indiana/Swiss
variant. The Maryland/German variant is further distinguished from the Indiana/Swiss
variant by a lack of vitreous opacities.;
Origin ID : C217418;
Has associated anatomic sites
- disease_has_molecular_abnormality
- disease_mapped_to_gene
