ORPHA:238269
AApoAII amyloidosis
Synonyms: Apolipoprotein A-II amyloidosis · Familial amyloid nephropathy due to apolipoprotein A-II variant · Familial renal amyloidosis due to apolipoprotein A-II variant · Hereditary amyloid nephropathy due to apolipoprotein A-II variant · Hereditary renal amyloidosis due to apolipoprotein A-II variant
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Status
- active
A rare hereditary amyloidosis with primary renal involvement characterized by variable onset of renal insufficiency with edema, hypertension, proteinuria, and azotemia, eventually leading to end-stage renal disease. Amyloid cardiomyopathy and histopathological evidence of amyloid deposition in other organs, such as the spleen, liver, adrenal glands, and pancreas, among others, have also been described.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | AApoAII amyloidosis | Apolipoprotein A-II amyloidosis · Familial amyloid nephropathy due to apolipoprotein A-II variant · Familial renal amyloidosis due to apolipoprotein A-II variant · Hereditary amyloid nephropathy due to apolipoprotein A-II variant · Hereditary renal amyloidosis due to apolipoprotein A-II variant |
| fr | Amylose AApoAII | Amylose rénale familiale due à un variant de l'apolipoprotéine A-II · Amylose rénale héréditaire due à un variant de l'apolipoprotéine A-II · Amylose à apolipoprotéine A-II · Néphropathie amyloïde familiale due à un variant de l'apolipoprotéine A-II · Néphropathie amyloïde héréditaire due à un variant de l'apolipoprotéine A-II |
| de | AApoAII-Amyloidose | Apolipoprotein AII-Amyloidose · Hereditäre renale Amyloidose durch Apolipoprotein AII-Variante · Amyloid-Nephropathie, familiäre, durch Apolipoprotein AII-Variante · Amyloidose, familiäre renale, mit Apolipoprotein AII-Variante |
| es | Amiloidosis AApoAII | Amiloidosis apolipoproteína A-II · Amiloidosis por apolipoproteína A-II · Amiloidosis renal familiar por una variante de la apolipoproteína A-ll · Amiloidosis renal hereditaria por una variante de la apolipoproteína A-ll · Nefropatía amiloide familiar por una variante de la apolipoproteína A-ll · Nefropatía amiloide hereditaria por una variante de la apolipoproteína A-ll |
| it | Amiloidosi AApoAII | Amiloidosi da apolipoproteina A-II · Amiloidosi renale ereditaria da variante dell'apolipoproteina A-II · Amiloidosi renale familiare da variante dell'apolipoproteina A-II · Nefropatia amiloide ereditaria da variante dell'apolipoproteina A-II · Nefropatia amiloide familiare da variante dell'apolipoproteina A-II |
| nl | AApoAII-amyloïdose | Apolipoproteïne A-II-amyloïdose · Erfelijke amyloïde nefropathie als gevolg van apolipoproteïne A-II-variant · Erfelijke renale amyloïdose als gevolg van apolipoproteïne A-II-variant · Familiale amyloïde nefropathie als gevolg van apolipoproteïne A-II-variant · Familiale renale amyloïdose als gevolg van apolipoproteïne A-II-variant |
| pt | Amiloidose renal familiar devido a apolipoproteínas, todas as variantes | |
| pl | Amyloidoza AApoAII | Amyloidoza apolipoproteinowa A-II · Dziedziczna amyloidoza nerek z powodu wariantu apolipoproteiny A-ll · Dziedziczna nefropatia amyloidowa z powodu wariantu polipoproteiny A-ll · Rodzinna amyloidoza nerek z powodu wariantu apolipoproteiny A-ll · Rodzinna nefropatia amyloidowa z powodu wariantu apolipoproteiny A-ll |
| cs | Apo AII amyloidóza | Amyloido´za z apolipoproteinu AII · Amyloidóza z apolipoproteinu AII · Familiární amyloidní nefropatie způsobená variantou apolipoproteinu A-II · Familiární renální amyloidóza způsobená variantou apolipoproteinu A-II · Hereditární amyloidní nefropatie způsobená variantou apolipoproteinu A-II · Hereditární renální amyloidóza způsobená variantou apolipoproteinu A-II |
| uk | Амілоїдоз AApoAII | Амілоїдоз аполіпопротеїну A-II · Сімейна амілоїдна нефропатія, зумовлена варіантом аполіпопротеїну А-ІІ · Сімейний амілоїдоз нирок, зумовлений варіантом аполіпопротеїну А-ІІ · Спадкова амілоїдна нефропатія, зумовлена варіантом аполіпопротеїну А-ІІ · Спадковий амілоїдоз нирок, зумовлений варіантом аполіпопротеїну А-ІІ |
| zh | AApoAII淀粉样变性 | 载脂蛋白AII淀粉样变性所致遗传性肾淀粉样变性 |
| tr | AApoAII amiloidoz | Apolipoprotein A-II amiloidoz · Apolipoprotein A-II varyantına bağlı ailesel renal amiloidoz · Apolipoprotein A-II varyantına bağlı ailesel amiloid nefropati · Apolipoprotein A-II varyantına bağlı kalıtsal renal amiloidoz · Apolipoprotein A-II varyantına bağlı kalıtsal amiloid nefropati |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E85.0 | NTBT | attributed | validated |
| ICD-11 | 5D00.2Y | NTBT | index | validated |
| MONDO | 0016533 | E | validated | |
| UMLS | C5679845 | 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 (1):
- ORPHA:85450Hereditary amyloidosis with primary renal involvement
rare genetic diseases; rare renal diseases; rare systemic and rheumatological diseases; rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| APOA2 | Disease-causing germline mutation(s) in | Assessed | HGNC:601 | ENSG00000158874 | 107670 | 1q23.3 | apolipoprotein A2 | 11401442[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/238269
- This record as JSON: /data/d/238269.json