AApoAI amyloidosis
Synonyms: Apolipoprotein A-I amyloidosis · Familial amyloid nephropathy due to apolipoprotein A-I variant · Familial renal amyloidosis due to apolipoprotein A-I variant · Hereditary amyloid nephropathy due to apolipoprotein A-I variant · Hereditary renal amyloidosis due to apolipoprotein A-I variant
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Status
- active
A rare, hereditary amyloidosis with primary renal involvement characterized by renal interstitial and medullary deposition of amyloid, low plasma levels of ApoA-1 and slow disease progression. Main clinical signs and symptoms are hypertension, proteinuria, hematuria and edema due to chronic renal insufficiency leading to end stage renal disease. Hepatosplenomegaly, progressive cardiomyopathy and involvement of skin, testes and adrenals (hypergonadotropic hypogonadism) have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | AApoAI amyloidosis | Apolipoprotein A-I amyloidosis · Familial amyloid nephropathy due to apolipoprotein A-I variant · Familial renal amyloidosis due to apolipoprotein A-I variant · Hereditary amyloid nephropathy due to apolipoprotein A-I variant · Hereditary renal amyloidosis due to apolipoprotein A-I variant |
| fr | Amylose AApoAI | Amylose rénale familiale due à un variant de l'apolipoprotéine A-I · Amylose rénale héréditaire due à un variant de l'apolipoprotéine A-I · Amylose à apolipoprotéine A-I · Néphropathie amyloïde familiale due à un variant de l'apolipoprotéine A-I · Néphropathie amyloïde héréditaire due à un variant de l'apolipoprotéine A-I |
| de | AApoAI-Amyloidose | Amyloidnephropathie, familiäre, Apolipoprotein A-I-Variante · Amyloidose, familiäre renale, durch Apolipoprotein A-I-Variante · Apolipoprotein A-I-Amyloidose · Hereditäre renale Amyloidose durch Apolipoprotein A-I-Variante |
| es | Amiloidosis AApoAI | Amiloidosis por apolipoproteína A-I · Amiloidosis renal familiar por una variante de la apolipoproteína A-I · Amiloidosis renal hereditaria por una variante de la apolipoproteína A-I · Nefropatía amiloide familiar por una variante de la apolipoproteína A-I · Nefropatía amiloide hereditaria por una variante de la apolipoproteína A-I |
| it | Amiloidosi AApoAI | Amiloidosi da apolipoproteina A-l · Amiloidosi renale ereditaria da variante dell'apolipoproteina A-I · Amiloidosi renale familiare da variante dell'apolipoproteina A-I · Nefropatia amiloide ereditaria da variante dell'apolipoproteina A-I · Nefropatia amiloide familiare da variante dell'apolipoproteina A-I |
| nl | AApoAI-amyloïdose | Apolipoproteïne A-I-amyloïdose · Erfelijke amyloïde nefropathie als gevolg van apolipoproteïne A-I-variant · Erfelijke renale amyloïdose als gevolg van apolipoproteïne A-I-variant · Familiale amyloïde nefropathie als gevolg van apolipoproteïne A-I-variant · Familiale renale amyloïdose als gevolg van apolipoproteïne A-I-variant |
| pt | Amiloidose da apolipoproteína AI | |
| pl | Amyloidoza AApoAI | Amyloidoza związana z apolipoproteiną A - wariant I · Dziedziczna amyloidoza nerek spowodowana wariantem I apolipoproteiny A · Dziedziczna nefropatia amyloidowa spowodowana wariantem I apolipoproteiny A · Rodzinna amyloidoza nerek spowodowana wariantem I apolipoproteiny A · Rodzinna nefropatia amyloidowa spowodowana wariantem I apolipoproteiny A |
| cs | AApoAI amyloidóza | Apolipoprotein A-I amyloidóza · Familiární amyloidová nefropatie způsobená variantou apolipoproteinu A-I · Familiární renální amyloidóza způsobená variantou apolipoproteinu A-I · Dědičná amyloidová nefropatie způsobená variantou apolipoproteinu A-I · Dědičná renální amyloidóza způsobená variantou apolipoproteinu A-I |
| uk | Амілоїдоз AApoAI | Амілоїдоз аполіпопротеїну A-I · Сімейна амілоїдна нефропатія, зумовлена варіантом аполіпопротеїну A-I · Сімейний амілоїдоз нирок, зумовлений варіантом аполіпопротеїну A-I · Спадкова амілоїдна нефропатія, зумовлена варіантом аполіпопротеїну A-I · Спадковий амілоїдоз нирок, зумовлений варіантом аполіпопротеїну A-I |
| zh | 载脂蛋白AI型淀粉样变性 | 载脂蛋白A-I突变所致遗传性淀粉样肾病 |
| tr | AApoAI amiloidoz | Apolipoprotein A-I amiloidoz · Apolipoprotein A-I varyantına bağlı ailesel renal amiloidoz · Apolipoprotein A-I varyantına bağlı ailesel amiloid nefropati · Apolipoprotein A-I varyantına bağlı kalıtsal renal amiloidoz · Apolipoprotein A-I varyantına bağlı kalıtsal amiloid nefropati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 105200 | NTBT | validated | |
| ICD-10 | E85.0 | NTBT | attributed | validated |
| ICD-11 | 5D00.2Y | NTBT | index | validated |
| MONDO | 0019731 | E | validated | |
| UMLS | C5680269 | 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:85450Hereditary amyloidosis with primary renal involvement
rare genetic diseases; rare renal diseases; rare systemic and rheumatological diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| APOA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:600 | ENSG00000118137 | 107680 | 11q23.3 | apolipoprotein A1 | 19324996[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93560
- This record as JSON: /data/d/93560.json