OMIA 000038 : Amyloidosis, AA

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.”

Species in which this phene is found:
chicken (Gallus gallus)
bats (Chiroptera)
white-tufted-ear marmoset (Callithrix jacchus)
dog (Canis lupus familiaris)
red fox (Vulpes vulpes)
domestic cat (Felis catus)
Sumatran tiger (Panthera tigris sumatrae)
pig (Sus scrofa)
cattle (Bos taurus)
goat (Capra hircus)
sheep (Ovis aries)
dolphinfishes (Coryphaenidae)
cheetah (Acinonyx jubatus)
northern tree shrew (Tupaia belangeri)
zebra finch (Taeniopygia guttata)
island gray fox (Urocyon littoralis)

Edit History


  • Created by Frank Nicholas on 03 May 2005
  • Changed by Imke Tammen2 on 14 Sep 2021
  • Changed by Imke Tammen2 on 28 Feb 2022
  • Changed by Imke Tammen2 on 19 Mar 2022