ALys amyloidosis

MedGen UID:: 1842307
•Concept ID:: C5680270
•: Disease or Syndrome

Synonyms:	Familial amyloid nephropathy due to lysozyme variant; familial amyloid nephropathy due to lysozyme variant; Familial renal amyloidosis due to lysozyme variant; familial renal amyloidosis due to lysozyme variant; hereditary amyloid nephropathy due to lysozyme variant; Hereditary amyloid nephropathy due to lysozyme variant; Hereditary renal amyloidosis due to lysozyme variant; hereditary renal amyloidosis due to lysozyme variant; Lysozyme amyloidosis; lysozyme amyloidosis
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0019732
Orphanet:	ORPHA93561

Definition

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. [from ORDO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVALys amyloidosis

Phenotypic abnormality
- Abnormality of metabolism/homeostasis
  - Amyloidosis
    - Familial visceral amyloidosis, Ostertag type
      - ALys amyloidosis

Recent clinical studies

Prognosis

Lysozyme amyloidosis-a report on a large German cohort and the characterisation of a novel amyloidogenic lysozyme gene variant.

Anker S, Hinderhofer K, Baur J, Haupt C, Röcken C, Beimler J, Zeier M, Weiler M, Wühl E, Kimmich C, Schönland S, Hegenbart U
Amyloid 2022 Dec;29(4):245-254. Epub 2022 May 9 doi: 10.1080/13506129.2022.2072198. PMID: 35533055

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