AA amyloidosis
Synonyms: Inflammatory amyloidosis · Reactive amyloidosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare amyloidosis that complicates chronic inflammatory disorders and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. The kidney is involved in virtually all patients and dominates the clinical picture. Other frequently involved sites are the liver, the spleen, suprarenal gland, gut and less frequently the heart.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | AA amyloidosis | Inflammatory amyloidosis · Reactive amyloidosis |
| fr | Amylose AA | Amylose inflammatoire · Amylose réactive |
| de | AA-Amyloidose | Amyloidose, inflammatorische · Amyloidose, reaktive |
| es | Amiloidosis AA | Amiloidosis inflamatoria · Amiloidosis reactiva |
| it | Amiloidosi AA | Amiloidosi infiammatoria · Amiloidosi reattiva · Amiloidosi secondaria |
| nl | AA-amyloïdose | Inflammatoire amyloïdose · Reactieve amyloïdose |
| pt | Amiloidose AA | Amiloidose inflamatória · Amiloidose reactiva |
| pl | Amyloidoza AA | Amyloidoza reaktywna · Amyloidoza wtórna · Amyloidoza zapalna |
| cs | AA amyloidóza | Reaktivní amyloidóza · Sekundární amyloidóza · Zánětlivá amyloidóza |
| uk | Амілоїдоз АА | Запальний амілоїдоз · Реактивний амілоїдоз |
| zh | AA型淀粉样变性 | 炎症性淀粉样变 |
| tr | AA amiloidoz | Reaktif amiloidoz · Sekonder amiloidoz · İnflamatuar amiloidoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E85.3 | E | specific | validated |
| ICD-11 | 5D00.1 | E | specific | validated |
| MONDO | 0019439 | E | validated | |
| MeSH | C000718787 | E | validated | |
| UMLS | C3536715 | E | validated | |
| GARD | 10560 | E | validated | |
| MedDRA | 10039811 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:209013Acquired amyloid peripheral neuropathy
rare neurological diseases - ORPHA:69Amyloidosis
rare systemic and rheumatological diseases - ORPHA:217720Non-familial restrictive cardiomyopathy
rare cardiac diseases - ORPHA:567558Non-genetic systemic disease with glomerulopathy as a major feature
rare renal diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SAA1 | Major susceptibility factor in | Assessed | HGNC:10513 | ENSG00000173432 | 104750 | 11p15.1 | serum amyloid A1 | 16118480[PMID]_16874691[PMID]_16219644[PMID]_18369528[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
32 annotations · validated 2024-04-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011034 | Amyloidosis | |
| HP:0002615 | Hypotension | |
| HP:0000112 | Nephropathy | |
| HP:0000093 | Proteinuria | |
| HP:0001917 | Renal amyloidosis | |
| Frequent (79-30%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0011830 | Abnormal oral mucosa morphology | |
| HP:0001396 | Cholestasis | |
| HP:0002028 | Chronic diarrhea | |
| HP:0012622 | Chronic kidney disease | |
| HP:0000105 | Enlarged kidney | |
| HP:0002240 | Hepatomegaly | |
| HP:0002024 | Malabsorption | |
| HP:0004395 | Malnutrition | |
| HP:0002018 | Nausea | |
| HP:0000100 | Nephrotic syndrome | |
| HP:0004936 | Venous thrombosis | |
| HP:0002013 | Vomiting | |
| Occasional (29-5%) | ||
| HP:0005162 | Abnormal left ventricular function | |
| HP:0001919 | Acute kidney injury | |
| HP:0012185 | Constrictive median neuropathy | |
| HP:0025077 | Decreased QRS voltage | |
| HP:0000853 | Goiter | |
| HP:0030164 | Jaw claudication | |
| HP:0001278 | Orthostatic hypotension | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0000083 | Renal insufficiency | |
| HP:0001744 | Splenomegaly | |
| Very rare (<4-1%) | ||
| HP:0000846 | Adrenal insufficiency | |
| HP:0030843 | Cardiac amyloidosis | |
| HP:0000821 | Hypothyroidism | |
| HP:0000158 | Macroglossia | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 28462876[PMID]_29261990[PMID]_30274625[PMID]_25023854[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85445
- This record as JSON: /data/d/85445.json