ORPHA:93562
AFib amyloidosis
Synonyms: Familial amyloid nephropathy due to fibrinogen A alpha-chain variant · Fibrinogen A alpha-chain amyloidosis · Hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant · Hereditary renal amyloidosis due to fibrinogen A alpha-chain variant
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Status
- active
A rare, hereditary amyloidosis with primary renal involvement characterized by fibrinogen A-alpha-chain amyloid deposition predominantly in the kidney glomeruli and clinically presenting with hypertension, uremia, nephrotic syndrome slowly progressing to end-stage renal disease. Extra-renal involvement is possible, due to neurological, cardiac, visceral and vascular amyloid deposition.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | AFib amyloidosis | Familial amyloid nephropathy due to fibrinogen A alpha-chain variant · Fibrinogen A alpha-chain amyloidosis · Hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant · Hereditary renal amyloidosis due to fibrinogen A alpha-chain variant |
| fr | Amylose AFib | Amylose rénale familiale due à un variant du fibrinogène A chaîne alpha · Amylose rénale héréditaire due à un variant du fibrinogène A chaîne alpha · Amylose à chaîne alpha du fibrinogène A · Néphropathie amyloïde familiale due à un variant du fibrinogène A chaîne alpha · Néphropathie amyloïde héréditaire due à un variant du fibrinogène A chaîne alpha |
| de | AFib-Amyloidose | Amyloidnephropathie, familiäre, durch fibrinogene A-alpha-Ketten-Variante · Amyloidose, familiäre renale, durch fibrinogene A-alpha-Ketten-Variante · Fibrinogen A-alpha-Ketten-Amyloidose · Hereditäre renale Amyloidose durch fibrinogene A-alpha-Ketten-Variante |
| es | Amiloidosis AFib | Amiloidosis del fibrinógeno A cadena alfa · Amiloidosis renal hereditaria por una variante de la cadena alfa del fibrinógeno A · Nefropatía amiloide familiar por una variante de la cadena alfa del fibrinógeno A · Nefropatía amiloide hereditaria por una variante de la cadena alfa del fibrinógeno A |
| it | Amiloidoisi AFib | Amiloidosi da catena alfa del fibrinogeno A · Amiloidosi renale ereditaria da variante della catena alfa del fibrinogeno A · Nefropatia amiloide ereditaria da variante della catena alfa del fibrinogeno A · Nefropatia amiloide familiare da variante della catena alfa del fibrinogeno A |
| nl | AFib-amyloïdose | Erfelijke amyloïde nefropathie als gevolg van fibrinogeen A-alfa-ketenvariant · Erfelijke renale amyloïdose als gevolg van fibrinogeen A-alfa-ketenvariant · Familiale amyloïde nefropathie als gevolg van fibrinogeen A-alfa-ketenvariant · Familiale renale amyloïdose als gevolg van fibrinogeen A-alfa-ketenvariant · Fibrinogeen A-alfa-ketenamyloïdose |
| pt | Amiloidose do fibrinogénio A-alfa | |
| pl | Amyloidoza AFib | Amyloidoza fibrynogenu A łańcuchów alfa · Dziedziczna amyloidoza nerek spowodowana wariantem fibrynogenu A łańcuchów alfa · Dziedziczna nefropatia amyloidowa spowodowana wariantem fibrynogenu A łańcuchów alfa · Rodzinna nefropatia amyloidowa spowodowana wariantem fibrynogenu A łańcuchów alfa |
| cs | AFib amyloidóza | Familiární amyloidová nefropatie způsobená variantou fibrinogen A alfa-řetězce · Fibrinogen A alfa-řetězec amyloidóza · Dědičná amyloidová nefropatie způsobená variantou fibrinogen A alfa-řetězce · Dědičná renální amyloidóza způsobená variantou fibrinogen A alfa-řetězce |
| uk | Амілоїдоз AFib | Сімейна амілоїдна нефропатія, зумовлена варіантом альфа-ланцюга фібриногену А · Амілоїдоз альфа-ланцюга фібриногену А · Спадкова амілоїдна нефропатія, зумовлена варіантом альфа-ланцюга фібриногену А · Спадковий амілоїдоз нирок, зумовлений варіантом альфа-ланцюга фібриногену А |
| zh | 纤维蛋白原α型淀粉样变性 | 纤维蛋白原α链突变所致遗传性淀粉样肾病 |
| tr | AFib amiloidoz | Fibrinojen A alfa zinciri amiloidozu · Fibrinojen A alfa zinciri varyantına bağlı ailesel amiloid nefropati · Fibrinojen A alfa zinciri varyantına bağlı kalıtsal renal amiloidoz · Fibrinojen A alfa zinciri varyantına bağlı kalıtsal amiloid nefropati |
Definition in:
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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 | 0019733 | E | validated | |
| UMLS | C5680267 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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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.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FGA | Disease-causing germline mutation(s) in | Assessed | HGNC:3661 | ENSG00000171560 | 134820 | 4q31.3 | fibrinogen alpha chain | 9389696[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93562
- This record as JSON: /data/d/93562.json