AH amyloidosis
Synonyms: Heavy chain amyloidosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Neonatal
- Status
- active
A rare, systemic amyloidosis characterized by the aggregation and deposition of amyloid fibrils composed of monoclonal immunoglobulin heavy-chain fragments, usually produced by a plasma cell neoplasm. Amyloid fibrils deposit in various organs, most commonly in the kidneys. It typically affects older patients and clinical presentation includes signs and symptoms of renal dysfunction, sometimes leading to nephrotic syndrome and end stage renal disease. Cardiac, liver and nerves involvement has also been described.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | AH amyloidosis | Heavy chain amyloidosis |
| fr | Amylose AH | Amylose à chaîne lourde |
| de | AH-Amyloidose | Schwerketten-Amyloidose |
| es | Amiloidosis AH | Amiloidosis de cadena pesada |
| it | Amiloidosi AH | Amiloidosi da catene pesanti |
| nl | AH-amyloïdose | Zwareketenamyloïdose |
| pt | Amiloidose AH | |
| pl | Amyloidoza AH | Amyloidoza immunoglobulinowa · Amyloidoza łańcuchów ciężkich |
| cs | AH amyloidóza | Amyloidóza těžkých řetězců |
| uk | Амілоїдоз при гіпертонічній хворобі | Амілоїдоз важких ланцюгів |
| zh | AH淀粉样变性 | 中联淀粉样变性 |
| tr | AH amiloidoz | Ağır zincir amiloidozu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E85.9 | NTBT | attributed | validated |
| ICD-11 | 5D00.Y | NTBT | index | validated |
| MONDO | 0018613 | E | validated | |
| UMLS | C5204115 | 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 |
|---|---|---|---|---|---|---|
| Cases/families | 12 cases | Worldwide | Case(s) | Validated | 20876678[PMID]_23302715[PMID]_23446254[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20876678[PMID]_23302715[PMID]_23446254[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
8 annotations · validated 2024-04-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000112 | Nephropathy | |
| Frequent (79-30%) | ||
| HP:0100292 | Amyloidosis of peripheral nerves | |
| HP:0030843 | Cardiac amyloidosis | |
| HP:0000853 | Goiter | |
| HP:0031185 | Increased circulating NT-proBNP concentration | |
| HP:0031047 | Paraproteinemia | |
| HP:0001917 | Renal amyloidosis | |
| Occasional (29-5%) | ||
| HP:0009830 | Peripheral neuropathy | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 38455688[PMID]_33713540[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/442582
- This record as JSON: /data/d/442582.json