transthyretin amyloidosis Disease Ontology Browser

Disease Ontology Browser

transthyretin amyloidosis (DOID:0050638)
Alliance: disease page
Synonyms: Amyloidosis, hereditary, transthyretin-related; ATTR amyloidosis; ATTRm amyloidosis; Corino de Andrade's disease; familial amyloid polyneuropathy; Familial transthyretin amyloidosis; paramyloidosis; transthyretin-related hereditary amyloidosis; TTR amyloidosis
Alt IDs: OMIM:105210, ICD10CM:E85.82, ORDO:85447
Definition: An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene.

Disease References using Mouse Models (7)

Allelic Composition	Genetic Background	Reference	Phenotypes
Ttrtm1.1Smoc/?	involves: C57BL/6J * C57BL/6N	J:257096	View
Tg(TTR)#Jbux/0	involves: C57BL/6 * DBA/2	J:68458	View
Rbp4tm1(RBP4)Zhel/Rbp4tm1(RBP4)Zhel Ttrtm2(TTR)Kymm/Ttrtm2(TTR)Kymm	B6.Cg-Ttr^tm2(TTR)Kymm Rbp4^{tm1(RBP4)Zhel}	J:260683	View
Rbp4tm1(RBP4)Zhel/Rbp4tm1(RBP4)Zhel Ttrtm2(TTR)Kymm/Ttrtm3(TTR*)Kymm	Not Specified	J:260683	View

Allelic Composition	Genetic Background	Reference	Phenotypes
Tg(TTR)#Jbux/0	involves: C57BL/6 * DBA/2	J:68458	View

Allelic Composition	Genetic Background	Reference	Phenotypes
Tg(TTR-V30M)15Imeg/0	involves: C57BL/6	J:260683	View
Tg(TTR-V30M)15Imeg/0	Not Specified	J:80880	View
Hsf1tm1Ijb/Hsf1tm1Ijb Tg(TTR-V30M)15Imeg/0	involves: 129S6/SvEvTac * BALB/c * C57BL/6	J:156658	View

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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