AA amyloidosis

Secondary amyloidosis is a form of amyloidosis (see this term), that complicates chronic inflammatory disorders (mainly rheumatoid arthritis, see this term) and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. Although spleen, suprarenal gland, liver and gut are frequent sites of amyloid deposition, the clinical picture is dominated by renal involvement.

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Narrow down the case reports

Total: 532 (papers)

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Matched Phenotype Gene Mutation MeSH

Rank (Similarity)	PMID (PMCID)
1 (55.1%)	31008521	Orthopedic and orthodontic management in a patient with DiGeorge Syndrome and Familial Mediterranean Fever: A case report. Cazzolla AP, Lacaita MG, Lacarbonara V, Zhurakivska K, De Franco A, Gissi I, Testa NF, Marzo G, Lo Muzio L. Spec Care Dentist. 2019;39(3):340-347. [ Show abstract ] [ Hide abstract ]
		Hepatosplenomegaly Normocytic anemia Fever
		EPO MEFV

		Amyloidosis Child DiGeorge Syndrome Familial Mediterranean Fever Homo sapiens Male Marfan Syndrome Pyrin
1 (55.1%)	28519899	Hepatic AA amyloidosis in a cat: cytologic and histologic identification of AA amyloid in macrophages. Neo-Suzuki S, Mineshige T, Kamiie J, Kayanuma H, Mochizuki Y, Hisasue M, Tsuchiya R, Shirota K. Vet Clin Pathol. 2017;46(2):331-336. [ Show abstract ] [ Hide abstract ]
		Anemia Azotemia Hepatomegaly


		Amyloidosis Animals Cat Diseases Felis catus Females Liver
3 (48.7%)	24292696	Renal amyloidosis in a patient with X-linked agammaglobulinemia (Bruton's disease) and bronchiectasis. Gonzalo-Garijo MA, Sanchez-Vega S, Perez-Calderon R, Perez-Rangel I, Corrales-Vargas S, Fernandez de Mera JJ, Robles R. J Clin Immunol. 2014;34(1):119-22. [ Show abstract ] [ Hide abstract ]
		Edema Normochromic anemia Hepatitis


		Adult Agammaglobulinemia Amyloid Amyloidosis Biopsy Bronchiectasis Genetic Diseases, X-Linked Homo sapiens Kidney Kidney Diseases Male
4 (44.2%)	27760004	First Case of TNF-Receptor-Associated Autoinflammatory Syndrome (TRAPS) in Bulgaria. Solakov PT. Folia Med (Plovdiv). 2016;58(3):211-214. [ Show abstract ] [ Hide abstract ]
		Hepatosplenomegaly Leukocytosis Periodic fever
		CRP TNFRSF1A
		c\|SUB\|T\|250\|C;RS#:104895253 c\|SUB\|T\|\|C
		Differential Diagnosis Females Hereditary Autoinflammatory Diseases Homo sapiens Middle Aged Mutation Syndrome
4 (44.2%)	17227255	[Secondary amyloidosis with irreversible acute renal failure caused by visceral leishmaniasis in a patient with AIDS]. Navarro M, Bonet J, Bonal J, Romero R. Nefrologia. 2006;26(6):745-6. [ Show abstract ] [ Hide abstract ]
		Hepatosplenomegaly Pancytopenia Fever


		AIDS-Related Opportunistic Infections Adult Amyloidosis Hepatitis C, Chronic Heroin Dependence Homo sapiens Leishmaniasis, Visceral Male Substance Abuse, Intravenous
6 (43.7%)	22359896	[Secondary (AA) amyloidosis in Crohn's disease]. Bulum T, Prkacin I, Cavric G, Sobocan N, Skurla B, Duvnjak L, Bulimbasic S. Acta Med Croatica. 2011;65(3):271-8. [ Show abstract ] [ Hide abstract ]
		Proteinuria Anemia Ileus
		SAA@

		Adult Amyloidosis Crohn Disease Homo sapiens Kidney Kidney Diseases Male
6 (43.7%)	8753122	[Amyloidosis secondary to bronchiectasis]. Takeuchi S, Iwata M, Ogawa M, Nagata A, Tano M, Yokoi T. Nihon Kyobu Shikkan Gakkai Zasshi. 1996;34(5):601-4. [ Show abstract ] [ Hide abstract ]
		Edema Anemia Diarrhea


		Amyloidosis Bronchiectasis Fatal Outcome Females Homo sapiens
8 (42.8%)	17586002	Schnitzler syndrome: beyond the case reports: review and follow-up of 94 patients with an emphasis on prognosis and treatment. de Koning HD, Bodar EJ, van der Meer JW, Simon A. Semin Arthritis Rheum. 2007;37(3):137-48. [ Show abstract ] [ Hide abstract ]
		Urticaria Fever Lymphadenopathy Lymphoproliferative disorder


		Differential Diagnosis Follow-Up Studies Homo sapiens Schnitzler Syndrome
9 (39.6%)	21483284	[Protracted Febrile Myalgia Syndrome with Henoch-Schonlein Purpura: an atypical presentation of Familial Mediterranean Fever]. Cabral M, Conde M, Brito MJ, Almeida H, Melo Gomes JA. Acta Reumatol Port. 2011;36(1):69-74. [ Show abstract ] [ Hide abstract ]
		Proteinuria Purpura Peritonitis
		MEFV
		p\|SUB\|M\|694\|V;RS#:61752717
		Child Familial Mediterranean Fever Females Fever Henoch-Schoenlein Purpura Homo sapiens Pain Syndrome
10 (39.2%)	12410048	Histopathology of corneal changes in lecithin-cholesterol acyltransferase deficiency. Viestenz A, Schlotzer-Schrehardt U, Hofmann-Rummelt C, Seitz B, Kuchle M. Cornea. 2002;21(8):834-7. [ Show abstract ] [ Hide abstract ]
		Proteinuria Anemia Arteriosclerosis
		LCAT

		Amyloidosis Cornea Corneal Opacity Genes, Recessive Homo sapiens Male Phosphatidylcholine-Sterol O-Acyltransferase

Phenotype(s) retrieved from Orphanet

Total: 23

HPO ID	Term	Frequency
HP:0000077	Abnormality of the kidney	Very frequent (99-80%)
HP:0000093	Proteinuria	Very frequent (99-80%)
HP:0000112	Nephropathy	Very frequent (99-80%)
HP:0001917	Renal amyloidosis	Very frequent (99-80%)
HP:0002615	Hypotension	Very frequent (99-80%)
HP:0011034	Amyloidosis	Very frequent (99-80%)
HP:0000100	Nephrotic syndrome	Frequent (79-30%)
HP:0000105	Enlarged kidney	Frequent (79-30%)
HP:0001396	Cholestasis	Frequent (79-30%)
HP:0002013	Vomiting	Frequent (79-30%)
HP:0002018	Nausea	Frequent (79-30%)
HP:0002024	Malabsorption	Frequent (79-30%)
HP:0002027	Abdominal pain	Frequent (79-30%)
HP:0002028	Chronic diarrhea	Frequent (79-30%)
HP:0002240	Hepatomegaly	Frequent (79-30%)
HP:0004395	Malnutrition	Frequent (79-30%)
HP:0004936	Venous thrombosis	Frequent (79-30%)
HP:0011830	Abnormal oral mucosa morphology	Frequent (79-30%)
HP:0012622	Chronic kidney disease	Frequent (79-30%)
HP:0001919	Acute kidney injury	Occasional (29-5%)
HP:0000821	Hypothyroidism	Very rare (4-1%)
HP:0000846	Adrenal insufficiency	Very rare (4-1%)
HP:0001627	Abnormal heart morphology	Very rare (4-1%)

Phenotype(s) retrieved from case reports

Total: 124

HPO ID	Term	# of case reports
HP:0000100	Nephrotic syndrome	59
HP:0001370	Rheumatoid arthritis	51
HP:0000093	Proteinuria	19
HP:0001369	Arthritis	12
HP:0000853	Goiter	11
HP:0000112	Nephropathy	10
HP:0001945	Fever	8
HP:0100279	Ulcerative colitis	7
HP:0000790	Hematuria	6
HP:0002014	Diarrhea	6
HP:0002664	Neoplasm	6
HP:0002754	Osteomyelitis	6
HP:0031035	Chronic infection	6
HP:0002110	Bronchiectasis	5
HP:0002829	Arthralgia	5
HP:0003040	Arthropathy	5
HP:0012115	Hepatitis	5
HP:0032323	Periodic fever	5
HP:0000083	Renal insufficiency	4
HP:0000969	Edema	4
HP:0001025	Urticaria	4
HP:0001875	Neutropenia	4
HP:0002027	Abdominal pain	4
HP:0002243	Protein-losing enteropathy	4
HP:0030731	Carcinoma	4
HP:0000123	Nephritis	3
HP:0001735	Acute pancreatitis	3
HP:0001903	Anemia	3
HP:0001954	Recurrent fever	3
HP:0002024	Malabsorption	3
HP:0012089	Arteritis	3
HP:0012587	Macroscopic hematuria	3
HP:0012593	Nephrotic range proteinuria	3
HP:0000099	Glomerulonephritis	2
HP:0000846	Adrenal insufficiency	2
HP:0001271	Polyneuropathy	2
HP:0001394	Cirrhosis	2
HP:0002028	Chronic diarrhea	2
HP:0002719	Recurrent infections	2
HP:0010550	Paraplegia	2
HP:0012578	Membranous nephropathy	2
HP:0032252	Granuloma	2
HP:0045073	Serositis	2
HP:0200123	Chronic hepatitis	2
HP:0000010	Recurrent urinary tract infections	1
HP:0000096	Glomerulosclerosis	1
HP:0000126	Hydronephrosis	1
HP:0000509	Conjunctivitis	1
HP:0000704	Periodontitis	1
HP:0000819	Diabetes mellitus	1
HP:0000821	Hypothyroidism	1
HP:0000822	Hypertension	1
HP:0000843	Hyperparathyroidism	1
HP:0000979	Purpura	1
HP:0000988	Skin rash	1
HP:0001082	Cholecystitis	1
HP:0001128	Trichiasis	1
HP:0001287	Meningitis	1
HP:0001396	Cholestasis	1
HP:0001399	Hepatic failure	1
HP:0001409	Portal hypertension	1
HP:0001433	Hepatosplenomegaly	1
HP:0001513	Obesity	1
HP:0001658	Myocardial infarction	1
HP:0001678	Atrioventricular block	1
HP:0001701	Pericarditis	1
HP:0001733	Pancreatitis	1
HP:0001873	Thrombocytopenia	1
HP:0001880	Eosinophilia	1
HP:0001882	Leukopenia	1
HP:0001897	Normocytic anemia	1
HP:0001907	Thromboembolism	1
HP:0001913	Granulocytopenia	1
HP:0002015	Dysphagia	1
HP:0002019	Constipation	1
HP:0002021	Pyloric stenosis	1
HP:0002041	Intractable diarrhea	1
HP:0002090	Pneumonia	1
HP:0002098	Respiratory distress	1
HP:0002099	Asthma	1
HP:0002153	Hyperkalemia	1
HP:0002239	Gastrointestinal hemorrhage	1
HP:0002240	Hepatomegaly	1
HP:0002571	Achalasia	1
HP:0002586	Peritonitis	1
HP:0002590	Paralytic ileus	1
HP:0002595	Ileus	1
HP:0002615	Hypotension	1
HP:0002668	Paraganglioma	1
HP:0002671	Basal cell carcinoma	1
HP:0002716	Lymphadenopathy	1
HP:0002835	Aspiration	1
HP:0002840	Lymphadenitis	1
HP:0002860	Squamous cell carcinoma	1
HP:0002863	Myelodysplasia	1
HP:0003198	Myopathy	1
HP:0003326	Myalgia	1
HP:0004389	Intestinal pseudo-obstruction	1
HP:0006532	Recurrent pneumonia	1
HP:0006689	Bacterial endocarditis	1
HP:0008682	Acute tubular necrosis	1
HP:0009830	Peripheral neuropathy	1
HP:0011947	Respiratory tract infection	1
HP:0012062	Bone cyst	1
HP:0012330	Pyelonephritis	1
HP:0012387	Bronchitis	1
HP:0012597	Heavy proteinuria	1
HP:0025532	Positive pathergy test	1
HP:0030151	Cholangitis	1
HP:0030156	Bence Jones Proteinuria	1
HP:0030171	Perirenal hematoma	1
HP:0031273	Shock	1
HP:0031274	Hypovolemic shock	1
HP:0031625	Pseudoaneurysm	1
HP:0031677	Polymorphic ventricular tachycardia	1
HP:0032302	Kappa Bence Jones proteinuria	1
HP:0100242	Sarcoma	1
HP:0100256	Senile plaques	1
HP:0100523	Liver abscess	1
HP:0100570	Carcinoid tumor	1
HP:0100633	Esophagitis	1
HP:0100646	Thyroiditis	1
HP:0100749	Chest pain	1
HP:0100820	Glomerulopathy	1

Causative gene(s) retrieved from Orphanet

Total: 1

Gene Symbol	Gene Name	Entrez Gene ID
SAA1	serum amyloid A1	6288