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ALys amyloidosis

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Disease 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.

ORPHA:93561

Classification level: Subtype of disorder

Synonym(s):
  • 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

Prevalence: <1 / 1 000 000

Inheritance: Autosomal dominant

Age of onset:

ICD-10: E85.0

ICD-11: 5D00.2Y

OMIM: 105200

UMLS: C5680270

A summary on this disease is available in Français (2018) Español (2018) Deutsch (2018) Italiano (2018) Nederlands (2018)
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Logo ERN: produced/endorsed by ERN(s) Logo FSMR: produced/endorsed by FSMR(s)

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