OMIA:000037 : Amyloidosis, generic

Categories: Homeostasis / metabolism phene

Possible human homologues (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)

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)
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.”

Species in which this phene is found:
ducks (Anas)
domestic goose (Anser anser)
chicken (Gallus gallus)
Rhesus monkey (Macaca mulatta)
dog (Canis lupus familiaris)
domestic cat (Felis catus)
lion (Panthera leo)
goat (Capra hircus)
golden hamster (Mesocricetus auratus)
black-footed cat (Felis nigripes)
black-footed ferret (Mustela nigripes)
Hermann's tortoise (Testudo hermanni)
Japanese quail (Coturnix japonica)
common tiger snake (Telescopus semiannulatus)
Leopard gecko (Eublepharis macularius)

Edit History


  • Created by Frank Nicholas on 03 May 2005
  • Changed by Imke Tammen2 on 14 Sep 2021
  • Changed by Imke Tammen2 on 15 Sep 2021
  • Changed by Imke Tammen2 on 28 Feb 2022
  • Changed by Imke Tammen2 on 23 Mar 2022
  • Changed by Imke Tammen2 on 17 Sep 2022
  • Changed by Imke Tammen2 on 08 Feb 2024
  • Changed by Imke Tammen2 on 14 Nov 2024