ALECT2 amyloidosis
Synonyms: Leukocyte chemotactic factor-2 amyloidosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Status
- active
A rare, systemic amyloidosis characterized by slowly progressive renal disease presenting with proteinuria, hypertension and decreased glomerular filtration rate leading to progressive renal failure. Histology reveals amyloid deposits of leukocyte chemotactic factor-2 protein in the renal cortical interstitium, tubular basement membranes, glomeruli and the vessel walls. Extra-renal deposits can be seen in the liver, lungs, spleen and adrenal glands.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | ALECT2 amyloidosis | Leukocyte chemotactic factor-2 amyloidosis |
| fr | Amylose ALECT2 | Amylose à Leucocyte chemotactic factor-2 |
| de | ALECT2-Amyloidose | ALECT2 · Leukozyten-chemotaktischer-Faktor 2-Amyloidose |
| es | Amiloidosis ALECT2 | Amiloidosis de leucocitos quimiotácticos factor-2 |
| it | Amiloidosi ALECT2 | Amiloidosi da fattore chemiotattico 2 leucocitario |
| nl | ALECT2-amyloïdose | Leukocyt chemotactische factor 2-amyloïdose |
| pt | Amiloidose ALECT2 | |
| pl | Amyloidoza ALECT2 | Amyloidoza czynnika-2 chemotaktycznego leukocytów |
| cs | ALECT2 amyloidóza | Leukocyte chemotactic factor-2 amyloidosis · Získaná renální amyloidóza · Amyloidóza leukocytárního chemotaktického faktoru-2 |
| uk | Амілоїдоз ALECT2 | Амілоїдоз лейкоцитарного хемотаксичного фактора-2 |
| zh | ALECT2淀粉样变性 | 白细胞趋化因子2淀粉样变性 |
| tr | ALECT2 amiloidoz | Lökosit kemotaktik faktör-2 amiloidozis |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E85.8 | NTBT | attributed | validated |
| ICD-11 | 5D00.0 | NTBT | index | validated |
| MONDO | 0018588 | E | validated | |
| UMLS | C5680047 | 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 (1):
- ORPHA:69Amyloidosis
rare systemic and rheumatological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
12 annotations · validated 2024-04-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012280 | Hepatic amyloidosis | |
| HP:0001917 | Renal amyloidosis | |
| Frequent (79-30%) | ||
| HP:0003259 | Elevated circulating creatinine concentration | |
| HP:0000822 | Hypertension | |
| HP:0000093 | Proteinuria | |
| HP:0033247 | Pulmonary amyloidosis | |
| HP:0000083 | Renal insufficiency | |
| Occasional (29-5%) | ||
| HP:0012145 | Abnormality of multiple cell lineages in the bone marrow | |
| HP:6000815 | Amyloid goiter | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0000853 | Goiter | |
| Very rare (<4-1%) | ||
| HP:0002907 | Microscopic hematuria | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 34848562[PMID]_36370056[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/439224
- This record as JSON: /data/d/439224.json