ORPHA:85443
AL amyloidosis
Synonyms: Light-chain amyloidosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
A clonal B-cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains. It usually presents as systemic AL amyloidosis with involvement of one or more parenchymal organ(s) and, less frequently, as localized amyloidosis with usually nodular deposits restricted to a single organ and/or system.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | AL amyloidosis | Light-chain amyloidosis |
| fr | Amylose AL | |
| de | AL-Amyloidose | Leichtkettenamyloidose |
| es | Amiloidosis AL | Amiloidosis de cadena ligera |
| it | Amiloidosi AL | Amiloidosi a catena leggera |
| nl | AL-amyloïdose | Lichteketenamyloïdose |
| pt | Amiloidose AL | Amiloidose de cadeias leves |
| pl | Amyloidoza AL | Amyloidoza immunoglobulinowa · Amyloidoza łańcuchów lekkich · Amyloidoza pierwotna |
| cs | AL amyloidóza | Primární amyloidóza · Amyloidóza s lehkými řetězci |
| uk | Амілоїдоз AL | Легколанцюговий амілоїдоз |
| zh | AL型淀粉样变性 | 长链淀粉样变 |
| tr | AL amiloidoz | Primer amiloidoz · Hafif zincir amiloidoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 254500 | NTBT | validated | |
| ICD-10 | E85.4 | BTNT | specific | validated |
| ICD-10 | E85.9 | NTBT | index | validated |
| ICD-11 | 5D00.0 | E | specific | validated |
| MONDO | 0019438 | E | validated | |
| MeSH | D000075363 | E | validated | |
| UMLS | C0268381 | E | validated | |
| GARD | 5797 | E | validated | |
| MedDRA | 10036673 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (7):
- ORPHA:209013Acquired amyloid peripheral neuropathy
rare neurological diseases - ORPHA:69Amyloidosis
rare systemic and rheumatological diseases - ORPHA:217598Non-familial hypertrophic cardiomyopathy
rare cardiac diseases; rare transplant-related disorders - 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 - ORPHA:98282Plasma cell tumor
rare hematological diseases; rare neoplastic diseases; rare transplant-related disorders - ORPHA:506210Rare disorder potentially indicated for liver transplant
rare transplant-related disorders
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
81 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 6.459 / 100 000 | Germany | Value and class | Validated | 35854312[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.968 / 100 000 | Slovakia | Value and class | Validated | 35854312[PMID] |
| Point prevalence | 1-9 / 100 000 | 5.756 / 100 000 | Slovenia | Value and class | Validated | 35854312[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.167 / 100 000 | Slovenia | Value and class | Validated | 35854312[PMID] |
| Point prevalence | 1-9 / 100 000 | 5.127 / 100 000 | Worldwide | Value and class | Validated | 35854312[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.044 / 100 000 | Worldwide | Value and class | Validated | 35854312[PMID] |
| Point prevalence | 1-9 / 100 000 | 5.5311 / 100 000 | Europe | Value and class | Validated | 35854312[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.1177 / 100 000 | Europe | Value and class | Validated | 35854312[PMID] |
| Point prevalence | 1-9 / 100 000 | 5.77 / 100 000 | Austria | Value and class | Validated | 35854312[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.166 / 100 000 | Austria | Value and class | Validated | 35854312[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 5.54 / 100 000 | Belgium | Value and class | Validated | 35854312[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.122 / 100 000 | Belgium | Value and class | Validated | 35854312[PMID] |
| Point prevalence | 1-9 / 100 000 | 5.892 / 100 000 | Bulgaria | Value and class | Validated | 35854312[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.174 / 100 000 | Bulgaria | Value and class | Validated | 35854312[PMID] |
| Point prevalence | 1-9 / 100 000 | 5.801 / 100 000 | Croatia | Value and class | Validated | 35854312[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.156 / 100 000 | Croatia | Value and class | Validated | 35854312[PMID] |
| Point prevalence | 1-9 / 100 000 | 4.299 / 100 000 | Cyprus | Value and class | Validated | 35854312[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.894 / 100 000 | Cyprus | Value and class | Validated | 35854312[PMID] |
| Point prevalence | 1-9 / 100 000 | 5.462 / 100 000 | Czech Republic | Value and class | Validated | 35854312[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.109 / 100 000 | Czech Republic | Value and class | Validated | 35854312[PMID] |
| Point prevalence | 1-9 / 100 000 | 5.568 / 100 000 | Denmark | Value and class | Validated | 35854312[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.124 / 100 000 | Denmark | Value and class | Validated | 35854312[PMID] |
| Point prevalence | 1-9 / 100 000 | 5.51 / 100 000 | Estonia | Value and class | Validated | 35854312[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.107 / 100 000 | Estonia | Value and class | Validated | 35854312[PMID] |
| Point prevalence | 1-9 / 100 000 | 5.885 / 100 000 | Finland | Value and class | Validated | 35854312[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.187 / 100 000 | Finland | Value and class | Validated | 35854312[PMID] |
| Point prevalence | 1-9 / 100 000 | 5.692 / 100 000 | France | Value and class | Validated | 35854312[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.152 / 100 000 | France | Value and class | Validated | 35854312[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.294 / 100 000 | Germany | Value and class | Validated | 35854312[PMID] |
| Point prevalence | 1-9 / 100 000 | 6.219 / 100 000 | Greece | Value and class | Validated | 35854312[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.254 / 100 000 | Greece | Value and class | Validated | 35854312[PMID] |
| Point prevalence | 1-9 / 100 000 | 5.418 / 100 000 | Hungary | Value and class | Validated | 35854312[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.088 / 100 000 | Hungary | Value and class | Validated | 35854312[PMID] |
| Point prevalence | 1-9 / 100 000 | 4.643 / 100 000 | Iceland | Value and class | Validated | 35854312[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.948 / 100 000 | Iceland | Value and class | Validated | 35854312[PMID] |
| Point prevalence | 1-9 / 100 000 | 4.448 / 100 000 | Ireland | Value and class | Validated | 35854312[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.913 / 100 000 | Ireland | Value and class | Validated | 35854312[PMID] |
| Point prevalence | 1-9 / 100 000 | 6.538 / 100 000 | Italy | Value and class | Validated | 35854312[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.329 / 100 000 | Italy | Value and class | Validated | 35854312[PMID] |
| Point prevalence | 1-9 / 100 000 | 5.71 / 100 000 | Latvia | Value and class | Validated | 35854312[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.123 / 100 000 | Latvia | Value and class | Validated | 35854312[PMID] |
| Point prevalence | 1-9 / 100 000 | 5.809 / 100 000 | Liechtenstein | Value and class | Validated | 35854312[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.174 / 100 000 | Liechtenstein | Value and class | Validated | 35854312[PMID] |
| Point prevalence | 1-9 / 100 000 | 5.61 / 100 000 | Lithuania | Value and class | Validated | 35854312[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.109 / 100 000 | Lithuania | Value and class | Validated | 35854312[PMID] |
| Point prevalence | 1-9 / 100 000 | 4.653 / 100 000 | Luxembourg | Value and class | Validated | 35854312[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.968 / 100 000 | Luxembourg | Value and class | Validated | 35854312[PMID] |
| Point prevalence | 1-9 / 100 000 | 5.641 / 100 000 | Malta | Value and class | Validated | 35854312[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.147 / 100 000 | Malta | Value and class | Validated | 35854312[PMID] |
| Point prevalence | 1-9 / 100 000 | 5.672 / 100 000 | Netherlands | Value and class | Validated | 35854312[PMID] |
| Point prevalence | 1-9 / 100 000 | 5.864 / 100 000 | Spain | Value and class | Validated | 35854312[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.193 / 100 000 | Spain | Value and class | Validated | 35854312[PMID] |
| Point prevalence | 1-9 / 100 000 | 5.667 / 100 000 | Sweden | Value and class | Validated | 35854312[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.141 / 100 000 | Sweden | Value and class | Validated | 35854312[PMID] |
| Point prevalence | 1-9 / 100 000 | 5.316 / 100 000 | United Kingdom | Value and class | Validated | 35854312[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.078 / 100 000 | United Kingdom | Value and class | Validated | 35854312[PMID] |
| Point prevalence | 1-9 / 100 000 | 3.222 / 100 000 | Brazil | Value and class | Validated | 35854312[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.672 / 100 000 | Brazil | Value and class | Validated | 35854312[PMID] |
| Point prevalence | 1-9 / 100 000 | 5.215 / 100 000 | Canada | Value and class | Validated | 35854312[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.076 / 100 000 | Canada | Value and class | Validated | 35854312[PMID] |
| Point prevalence | 1-9 / 100 000 | 7.108 / 100 000 | Japan | Value and class | Validated | 35854312[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.43 / 100 000 | Japan | Value and class | Validated | 35854312[PMID] |
| Point prevalence | 1-9 / 100 000 | 4.569 / 100 000 | Russian Federation | Value and class | Validated | 35854312[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.93 / 100 000 | Russian Federation | Value and class | Validated | 35854312[PMID] |
| Point prevalence | 1-9 / 100 000 | 4.822 / 100 000 | Korea, Republic of | Value and class | Validated | 35854312[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.997 / 100 000 | Korea, Republic of | Value and class | Validated | 35854312[PMID] |
| Point prevalence | 1-9 / 100 000 | 4.852 / 100 000 | Taiwan, Province of China | Value and class | Validated | 35854312[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.001 / 100 000 | Taiwan, Province of China | Value and class | Validated | 35854312[PMID] |
| Point prevalence | 1-9 / 100 000 | 4.842 / 100 000 | United States | Value and class | Validated | 35854312[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.991 / 100 000 | United States | Value and class | Validated | 35854312[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.146 / 100 000 | Netherlands | Value and class | Validated | 35854312[PMID] |
| Point prevalence | 1-9 / 100 000 | 4.977 / 100 000 | Norway | Value and class | Validated | 35854312[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.018 / 100 000 | Norway | Value and class | Validated | 35854312[PMID] |
| Point prevalence | 1-9 / 100 000 | 5.134 / 100 000 | Poland | Value and class | Validated | 35854312[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.044 / 100 000 | Poland | Value and class | Validated | 35854312[PMID] |
| Point prevalence | 1-9 / 100 000 | 6.216 / 100 000 | Portugal | Value and class | Validated | 35854312[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.25 / 100 000 | Portugal | Value and class | Validated | 35854312[PMID] |
| Point prevalence | 1-9 / 100 000 | 5.537 / 100 000 | Romania | Value and class | Validated | 35854312[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.107 / 100 000 | Romania | Value and class | Validated | 35854312[PMID] |
| Point prevalence | 1-9 / 100 000 | 4.76 / 100 000 | Slovakia | Value and class | Validated | 35854312[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 6 / 100 000 | Argentina | Value and class | Validated | 31343332[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.
6
HPO phenotypes
65 annotations · validated 2026-04-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001635 | Congestive heart failure | |
| HP:0012378 | Fatigue | |
| Frequent (79-30%) | ||
| HP:0003115 | Abnormal EKG | |
| HP:0005150 | Abnormal atrioventricular conduction | |
| HP:0006530 | Abnormal pulmonary interstitial morphology | |
| HP:0000223 | Abnormality of taste sensation | |
| HP:0012592 | Albuminuria | |
| HP:0011710 | Bundle branch block | |
| HP:0025077 | Decreased QRS voltage | |
| HP:0100639 | Erectile dysfunction | |
| HP:0012280 | Hepatic amyloidosis | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0031185 | Increased circulating NT-proBNP concentration | |
| HP:0010702 | Increased circulating immunoglobulin concentration | |
| HP:0410173 | Increased circulating troponin I concentration | |
| HP:0410174 | Increased circulating troponin T concentration | |
| HP:0001712 | Left ventricular hypertrophy | |
| HP:0002024 | Malabsorption | |
| HP:0031326 | Monoclonal light chain cardiac amyloidosis | |
| HP:0012593 | Nephrotic range proteinuria | |
| HP:0000100 | Nephrotic syndrome | |
| HP:0025552 | Periorbital purpura | |
| HP:0000093 | Proteinuria | |
| HP:0032613 | Renal interstitial amyloid deposits | |
| HP:0007141 | Sensorimotor neuropathy | |
| HP:0001824 | Weight loss | |
| Occasional (29-5%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0031595 | Abnormal P wave | |
| HP:0012332 | Abnormal autonomic nervous system physiology | |
| HP:0005120 | Abnormal cardiac atrium morphology | |
| HP:0001713 | Abnormal cardiac ventricle morphology | |
| HP:0010286 | Abnormal salivary gland morphology | |
| HP:0001903 | Anemia | |
| HP:0001650 | Aortic valve stenosis | |
| HP:0011675 | Arrhythmia | |
| HP:6001262 | Biceps tendon rupture | |
| HP:0000978 | Bruising susceptibility | |
| HP:0002019 | Constipation | |
| HP:0012185 | Constrictive median neuropathy | |
| HP:0002014 | Diarrhea | |
| HP:0002094 | Dyspnea | |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration | |
| HP:0002240 | Hepatomegaly | |
| HP:0032550 | Howell-Jolly bodies | |
| HP:0003073 | Hypoalbuminemia | |
| HP:0030164 | Jaw claudication | |
| HP:0025168 | Left ventricular diastolic dysfunction | |
| HP:0031246 | Nonproductive cough | |
| HP:0002870 | Obstructive sleep apnea | |
| HP:0012398 | Peripheral edema | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0005307 | Postural hypotension with compensatory tachycardia | |
| HP:0025389 | Pulmonary interstitial high-resolution computed tomography abnormality | |
| HP:0008321 | Reduced factor X activity | |
| HP:0000083 | Renal insufficiency | |
| HP:0003416 | Spinal canal stenosis | |
| HP:0001645 | Sudden cardiac death | |
| HP:0001279 | Syncope | |
| HP:0000217 | Xerostomia | |
| Very rare (<4-1%) | ||
| HP:0002015 | Dysphagia | |
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0002578 | Gastroparesis | |
| HP:0001609 | Hoarse voice | |
| HP:0000158 | Macroglossia | |
| Excluded (0%) | ||
| HP:0012664 | Reduced left ventricular ejection fraction | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 41209119[PMID]_30361521[PMID]_29531659[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85443
- This record as JSON: /data/d/85443.json