familial visceral amyloidosis

Summary
Synonym
  • AMYLOIDOSIS, FAMILIAL RENAL
  • German type amyloidosis
  • OSTERTAG TYPE AMYLOIDOSIS
  • systemic nonneuropathic amyloidosis
Definition
An amyloidosis that is characterized by the abnormal deposition of amyloid proteins that is located_in the visceral organs, primarily the kidneys.
Super Class
amyloidosis autosomal dominant disease inherited metabolic disorder
External Links
Disease Ontology
DOID:0050636
Mondo Disease Ontology
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
4069 LYZ lysozyme
Displaying all 2 entries
Gene ID Gene Symbol Description Source
17105 Lyz2 lysozyme 2
17110 Lyz1 lysozyme 1
Displaying all 6 entries
Gene ID Gene Symbol Description Source
38122 LysX Lysozyme X
38125 LysB Lysozyme B
38127 LysD Lysozyme D
38128 LysE Lysozyme E
38129 LysP Lysozyme P
38130 LysS Lysozyme S
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P61626 Lysozyme C
The Human Phenotype Ontology
Displaying entries 1 - 10 of 15 in total
HPO ID HPO Term
HP:0000988 Skin rash
HP:0000112 Nephropathy
HP:0002240 Hepatomegaly
HP:0000093 Proteinuria
HP:0001744 Splenomegaly
HP:0003581 Adult onset
HP:0000822 Hypertension
HP:0000006 Autosomal dominant inheritance
HP:0001396 Cholestasis
HP:0003216 Generalized amyloid deposition
Displaying 1 entry
Gene ID Gene Symbol Description
4069 LYZ lysozyme

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024