AApoAIV amyloidosis
Synonyms: Apolipoprotein A-IV amyloidosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
A rare nonhereditary systemic amyloidosis characterized by slowly progressive renal dysfunction, increased serum creatinine, mostly normal urine analysis with no significant proteinuria and associated heart disease. Cardiac involvement presents as hypertrophic obstructive cardiomyopathy, left ventricular outflow tract obstruction, coronary artery disease and conduction system abnormalities. Histology reveals medullar amyloid deposits, renal tubular atrophy, interstitial fibrosis, and glomerular sclerosis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | AApoAIV amyloidosis | Apolipoprotein A-IV amyloidosis |
| fr | Amylose AApoAIV | Amylose à apolipoprotéine A-IV |
| de | AApoAIV-Amyloidose | Apolipoprotein A-IV-Amyloidose |
| es | Amiloidosis AApoAIV | Amiloidosis por apolipoproteína A-IV |
| it | Amiloidosi AApoAIV | Amiloidosi da apolipoproteina A-IV |
| nl | AApoAIV-amyloïdose | Apolipoproteïne A-IV-amyloïdose |
| pt | Amiloidose AApoAIV | |
| pl | Amyloidoza AApoAIV | Amyloidoza apolipoproteinowa A-IV |
| cs | AApoAIV amyloidóza | Apolipoprotein A-IV amyloidóza |
| uk | Амілоїдоз AApoAIV | Амілоїдоз аполіпопротеїну A-IV |
| zh | AApoAIV 淀粉样变性 | 载脂蛋白A-IV淀粉样变性 |
| tr | AApoAIV amiloidoz | Apolipoprotein A-IV amiloidozis |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E85.8 | NTBT | attributed | validated |
| ICD-11 | 5D00.2Y | NTBT | index | validated |
| MONDO | 0018589 | E | validated | |
| UMLS | C5568805 | 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 (2):
- ORPHA:69Amyloidosis
rare systemic and rheumatological diseases - ORPHA:567558Non-genetic systemic disease with glomerulopathy as a major feature
rare renal diseases; rare transplant-related disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_11467836[PMID]_21900878[PMID] |
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 11467836[PMID]_21900878[PMID] |
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
30 annotations · validated 2024-04-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100957 | Abnormal renal medulla morphology | |
| HP:0003259 | Elevated circulating creatinine concentration | |
| Frequent (79-30%) | ||
| HP:0030872 | Abnormal cardiac ventricular function | |
| HP:0012622 | Chronic kidney disease | |
| HP:0000822 | Hypertension | |
| HP:0001917 | Renal amyloidosis | |
| HP:0032613 | Renal interstitial amyloid deposits | |
| Occasional (29-5%) | ||
| HP:0011024 | Abnormality of the gastrointestinal tract | |
| HP:0003418 | Back pain | |
| HP:0031546 | Cardiac conduction abnormality | |
| HP:0006510 | Chronic pulmonary obstruction | |
| HP:0001677 | Coronaryartery atherosclerosis | |
| HP:0000819 | Diabetes mellitus | |
| HP:0000096 | Glomerulosclerosis | |
| HP:0003077 | Hyperlipidemia | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0011713 | Left bundle branch block | |
| HP:0001712 | Left ventricular hypertrophy | |
| HP:0032092 | Left ventricular outflow tract obstruction | |
| HP:0031047 | Paraproteinemia | |
| HP:0034807 | Paroxysmal nocturnal dyspnea | |
| HP:0000093 | Proteinuria | |
| HP:0012664 | Reduced left ventricular ejection fraction | |
| Very rare (<4-1%) | ||
| HP:0002088 | Abnormal lung morphology | |
| HP:0005110 | Atrial fibrillation | |
| HP:0004749 | Atrial flutter | |
| HP:0030843 | Cardiac amyloidosis | |
| HP:0012309 | Cutaneous amyloidosis | |
| HP:0001688 | Sinus bradycardia | |
| HP:0004381 | Supravalvular aortic stenosis | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 37681056[PMID]_28449784[PMID]_28828707[PMID]_27262366[PMID]_32861330[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/439232
- This record as JSON: /data/d/439232.json