ALys amyloidosis
Synonyms: Familial amyloid nephropathy due to lysozyme variant · Familial renal amyloidosis due to lysozyme variant · Hereditary amyloid nephropathy due to lysozyme variant · Hereditary renal amyloidosis due to lysozyme variant · Lysozyme amyloidosis
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Status
- active
A rare, hereditary amyloidosis with primary renal involvement characterized by amyloid deposition in the kidney glomeruli and medulla, gastrointestinal tract, liver, spleen and slow disease progression. Symptoms and signs include nausea, vomiting, dyspepsia, gastritis, gastrointestinal hemorrhage, abdominal pain, hepatic rupture, sicca syndrome, purpura and petechiae, lymphadenopathy and renal dysfunction.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | ALys amyloidosis | Familial amyloid nephropathy due to lysozyme variant · Familial renal amyloidosis due to lysozyme variant · Hereditary amyloid nephropathy due to lysozyme variant · Hereditary renal amyloidosis due to lysozyme variant · Lysozyme amyloidosis |
| fr | Amylose ALys | Amylose rénale familiale due à un variant du lysozyme · Amylose rénale héréditaire due à un variant du lysozyme · Néphropathie amyloïde familiale due à un variant du lysozyme · Néphropathie amyloïde héréditaire due à un variant du lysozyme · Amylose associée au lysozyme |
| de | ALys-Amyloidose | Amyloidnephropathie, familiäre, durch Lysozym-Variante · Amyloidose, familiäre renale, durch Lysozym-Variante · Hereditäre renale Amyloidose durch Lysozym-Variante |
| es | Amiloidosis ALys | Amiloidosis por lisozima · Amiloidosis renal familiar por una variante de la lisozima · Amiloidosis renal hereditaria por una variante de la lisozima · Nefropatía amiloide familiar por una variante de la lisozima · Nefropatía amiloide hereditaria por una variante de la lisozima |
| it | Amiloidosi ALys | Amiloidosi da lisozima · Amiloidosi renale ereditaria da variante del lisozima · Amiloidosi renale familiare da variante del lisozima · Nefropatia amiloide ereditaria da variante del lisozima · Nefropatia amiloide familiare da variante del lisozima |
| nl | ALys-amyloïdose | Erfelijke amyloïde nefropathie als gevolg van lysozymvariant · Erfelijke renale amyloïdose als gevolg van lysozymvariant · Familiale amyloïde nefropathie als gevolg van lysozymvariant · Familiale renale amyloïdose als gevolg van lysozymvariant · Lysozym-amyloïdose |
| pt | Amiloidose da lisozima | |
| pl | Amyloidoza ALys | Amyloidoza lizozymowa · Dziedziczna amyloidoza nerek spowodowana wariantem lizozymu · Dziedziczna nefropatia amyloidowa spowodowana wariantem lizozymu · Rodzinna amyloidoza nerek spowodowana wariantem lizozymu · Rodzinna nefropatia amyloidowa spowodowana wariantem lizozymu |
| cs | ALys amyloidóza | Amyloidóza z lysozymu · Familiární amyloidová nefropatie způsobená variantou lysozymu · Familiární renální amyloidóza způsobená variantou lysozymu · Dědičná amyloidová nefropatie způsobená variantou lysozymu · Dědičná renální amyloidóza způsobená variantou lysozymu |
| uk | Аліментарний амілоїдоз | Сімейна амілоїдна нефропатія, зумовлена варіантом лізоциму · Сімейний амілоїдоз нирок, зумовлений лізоцимним варіантом · Спадкова амілоїдна нефропатія, зумовлена варіантом лізоциму · Спадковий амілоїдоз нирок, зумовлений лізоцимним варіантом · Лізоцимний амілоїдоз |
| zh | 溶菌酶型淀粉样变性 | 溶菌酶突变所致遗传性淀粉样肾病 |
| tr | ALys amiloidoz | Lizozim amiloidoz · Lizozim varyantına bağlı ailesel renal amiloidoz · Lizozim varyantına bağlı ailesel amiloid nefropati · Lizozim varyantına bağlı kalıtsal renal amiloidoz · Lizozim 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 | 0019732 | E | validated | |
| UMLS | C5680270 | 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 |
|---|---|---|---|---|---|---|---|---|
| LYZ | Disease-causing germline mutation(s) in | Assessed | HGNC:6740 | ENSG00000090382 | 153450 | 12q15 | lysozyme | 11849445[PMID]_12675840[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 families | Worldwide | Family(ies) | Validated | 21988333[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_21988333[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93561
- This record as JSON: /data/d/93561.json