ORPHA:85450
Hereditary amyloidosis with primary renal involvement
Synonyms: Amyloidosis, Ostertag type · Familial amyloid nephropathy · Familial renal amyloidosis · Hereditary amyloid nephropathy · Hereditary renal amyloidosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
A group of rare renal diseases, characterized by amyloid fibril deposition of apolipoprotein A-I or A-II (AApoAI or AApoAII amyloidosis), lysozyme (ALys amyloidosis) or fibrinogen A-alpha chain (AFib amyloidosis) in one or several organs. Renal involvement leading to chronic renal disease and renal failure is a common sign. Additional manifestations depend on the organ involved and the type of amyloid fibrils deposited.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary amyloidosis with primary renal involvement | Amyloidosis, Ostertag type · Familial amyloid nephropathy · Familial renal amyloidosis · Hereditary amyloid nephropathy · Hereditary renal amyloidosis |
| fr | Amylose héréditaire avec atteinte rénale primaire | Amylose d'Ostertag · Amylose rénale familiale · Amylose rénale héréditaire · Néphropathie amyloïde familiale · Néphropathie amyloïde héréditaire |
| de | Hereditäre Amyloidose mit vorwiegender Nierenbeteiligung | Amyloidnephropathie, familiäre · Amyloidnephropathie, hereditäre · Amyloidose Typ Ostertag · Amyloidose, familiäre renale |
| es | Amiloidosis hereditaria con afectación renal primaria | Amiloidosis renal familiar · Amiloidosis renal hereditaria · Amiloidosis tipo Ostertag · Nefropatía amiloide familiar · Nefropatía amiloide hereditaria |
| it | Amiloidosi ereditaria con interessamento renale primitivo | Amiloidosi renale familiare · Amiloidosi, tipo Ostertag · Nefropatia amiloide ereditaria · Nefropatia amiloide familiare |
| nl | Erfelijke amyloïdose met primaire renale betrokkenheid | Amyloïdose, Ostertag-type · Erfelijke amyloïde nefropathie · Erfelijke amyloïdose met primaire betrokkenheid van de nieren · Erfelijke renale amyloïdose · Familiale amyloïde nefropathie · Familiale renale amyloïdose |
| pt | Nefropatia amiloidótica familiar | |
| pl | Dziedziczna amyloidoza z pierwotnym zajęciem nerek | Amyloidoza, typ Ostertaga · Dziedziczna amyloidoza nerek · Dziedziczna nefropatia amyloidowa · Rodzinna amyloidoza nerkowa · Rodzinna nefropatia amyloidowa |
| cs | Hereditární amyloidóza s primárním postižením ledvin | Familiární amyloidní nefropatie · Familiární renální amyloidóza · Hereditární amyloidní nefropatie · Hereditární renální amyloidóza · Amyloidóza, Ostertagův typ |
| uk | Спадковий амілоїдоз з первинним ураженням нирок | Амілоїдоз, тип Остертага · Сімейна амілоїдна нефропатія · Сімейний амілоїдоз нирок · Спадкова амілоїдна нефропатія · Спадковий амілоїдоз нирок |
| zh | 遗传性淀粉样变性伴原发性肾脏受累 | 遗传性淀粉样神经病 |
| tr | Primer böbrek tutulumu ile seyreden kalıtsal amiloidoz | Amiloidoz, Ostertag tipi · Ailesel renal amiloidoz · Ailesel amiloid nefropati · Kalıtsal renal amiloidoz · Kalıtsal amiloid nefropati |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 105200 | E | validated | |
| ICD-10 | E85.0 | NTBT | inclusion | validated |
| ICD-11 | 5D00.2Y | NTBT | index | validated |
| MONDO | 0007099 | E | validated | |
| MONDO | 7099 | E | validated | |
| UMLS | C0268389 | E | validated | |
| GARD | 8282 | 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 (4):
- ORPHA:69Amyloidosis
rare systemic and rheumatological diseases - ORPHA:567556Genetic systemic disease with glomerulopathy as a major feature
rare genetic diseases; rare renal diseases; rare transplant-related disorders - ORPHA:444116Hereditary amyloidosis
rare genetic diseases - ORPHA:506210Rare disorder potentially indicated for liver transplant
rare transplant-related disorders
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Genes
0 direct · 4 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| APOA1 | ORPHA:93560AApoAI amyloidosis | Disease-causing germline mutation(s) in | Assessed | HGNC:600 | ENSG00000118137 | 107680 | 11q23.3 | apolipoprotein A1 | 19324996[PMID] |
| APOA2 | ORPHA:238269AApoAII amyloidosis | Disease-causing germline mutation(s) in | Assessed | HGNC:601 | ENSG00000158874 | 107670 | 1q23.3 | apolipoprotein A2 | 11401442[PMID] |
| FGA | ORPHA:93562AFib amyloidosis | Disease-causing germline mutation(s) in | Assessed | HGNC:3661 | ENSG00000171560 | 134820 | 4q31.3 | fibrinogen alpha chain | 9389696[PMID] |
| LYZ | ORPHA:93561ALys amyloidosis | Disease-causing germline mutation(s) in | Assessed | HGNC:6740 | ENSG00000090382 | 153450 | 12q15 | lysozyme | 11849445[PMID]_12675840[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
43 annotations · validated 2021-10-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000112 | Nephropathy | |
| HP:0000093 | Proteinuria | |
| HP:0032613 | Renal interstitial amyloid deposits | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0012591 | Abnormal urinary electrolyte concentration | |
| HP:0011024 | Abnormality of the gastrointestinal tract | |
| HP:0012213 | Decreased glomerular filtration rate | |
| HP:0003259 | Elevated circulating creatinine concentration | |
| HP:0000822 | Hypertension | |
| HP:0000083 | Renal insufficiency | |
| HP:0001970 | Tubulointerstitial nephritis | |
| Occasional (29-5%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0002733 | Abnormality of the lymph nodes | |
| HP:0001903 | Anemia | |
| HP:0001635 | Congestive heart failure | |
| HP:0003233 | Decreased HDL cholesterol concentration | |
| HP:0031799 | Decreased apolipoprotein AI level | |
| HP:0001410 | Decreased liver function | |
| HP:0002014 | Diarrhea | |
| HP:0410281 | Dyspepsia | |
| HP:0003565 | Elevated erythrocyte sedimentation rate | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0002240 | Hepatomegaly | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0005214 | Intestinal obstruction | |
| HP:0031368 | Intestinal perforation | |
| HP:0002716 | Lymphadenopathy | |
| HP:0003198 | Myopathy | |
| HP:0002018 | Nausea | |
| HP:0000100 | Nephrotic syndrome | |
| HP:0000017 | Nocturia | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0000967 | Petechiae | |
| HP:0000979 | Purpura | |
| HP:0000092 | Renal tubular atrophy | |
| HP:0005576 | Tubulointerstitial fibrosis | |
| HP:0002013 | Vomiting | |
| HP:0001824 | Weight loss | |
| Very rare (<4-1%) | ||
| HP:0000035 | Abnormal testis morphology | |
| HP:0000135 | Hypogonadism | |
| HP:0003251 | Male infertility | |
| HP:0000798 | Oligozoospermia | |
| HP:0008720 | Primary testicular failure | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 25852856[PMID]_31395023[PMID]_32841328[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85450
- This record as JSON: /data/d/85450.json