OMIA:000037-9925 : Amyloidosis, generic in Capra hircus
Categories: Homeostasis / metabolism phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 105120 (trait) , 105150 (trait) , 105200 (trait) , 105210 (trait) , 105250 (trait) , 137440 (trait) , 191900 (trait) , 204850 (trait) , 204870 (trait) , 204900 (trait) , 254500 (trait) , 301220 (trait)
Links to MONDO diseases: No links.
Mendelian trait/disorder: unknown
Considered a defect: yes
Cross-species summary: “Amyloid is the term for a misfolded protein that accumulates as insoluble fibrils in various organ and tissue sites to result in a clinical syndrome known as amyloidosis. The chemical diversity of amyloid and amyloidosis has been evident since the mid-1970s and the number of known human amyloid proteins has steadily increased from two at that time to 36 at Amyloid deposition, either hereditary or acquired, is seldom benign and, when clinical symptoms appear, they are frequently life-threatening. The best way to distinguish the different forms of amyloid is by chemical characterization. (Immuno-)histochemical typing of amyloid is readily available … . [A] second descriptor is whether the patient’s amyloid is limited (localized) or throughout the whole body (systemic). Each amyloid syndrome should be named according to the Nomenclature Guidelines of the ISA. Most of the distinct amyloidosis syndromes are named after the fibril forming protein, e.g. AL (amyloid derived from immunoglobulin light chain) amyloidosis (localized or systemic), AA amyloidosis (amyloid derived from SAA – serum amyloid A protein) … .” (International Society of Amyloidosis, https://www.isaamyloidosis.org/about/amyloidosis-the-disease.php) Sipe et al., 2016: “The terms “hereditary amyloidosis” and “familial amyloidosis” refer to different entities. The term “hereditary amyloidosis” should be used when there is a mutation in the fibril protein gene itself, e.g. ATTR, ALys or AFib. The term “familial amyloidosis” should be used when the syndrome occurs in a familial setting due to mutations in genes expressing non-amyloid proteins, e.g. AA amyloidosis.”
Cite this entry
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2016||Sipe, J.D., Benson, M.D., Buxbaum, J.N., Ikeda, S.I., Merlini, G., Saraiva, M.J., Westermark, P. :|
|Amyloid fibril proteins and amyloidosis: chemical identification and clinical classification International Society of Amyloidosis 2016 Nomenclature Guidelines. Amyloid 23:209-213, 2016. Pubmed reference: 27884064 . DOI: 10.1080/13506129.2016.1257986.|
|1992||Tham, V.L., Bunn, C.M. :|
|Amyloidosis in an Angora Goat Australian Veterinary Journal 69:40-41, 1992. Pubmed reference: 1632733 .|
- Created by Frank Nicholas on 06 Sep 2005