Familial renal amyloidosis

General Information (adopted from Orphanet):

Synonyms, Signs: AMYLOIDOSIS, FAMILIAL RENAL
AMYLOIDOSIS VIII
AMYLOIDOSIS, SYSTEMIC NONNEUROPATHIC
GERMAN TYPE AMYLOIDOSIS
OSTERTAG TYPE AMYLOIDOSIS
Familial amyloid nephropathy
Amyloidosis, Ostertag type
Hereditary renal amyloidosis
Hereditary amyloid nephropathy
Number of Symptoms 13
OrphanetNr: 85450
OMIM Id: 105200
ICD-10: E85.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Amyloidosis
 -Rare systemic or rheumatologic disease
Genetic glomerular disease
 -Rare genetic disease
Secondary glomerular disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
(HPO:0000790) Hematuria 106 / 7739
2
(HPO:0000100) Nephrotic syndrome 83 / 7739
3
(HPO:0000093) Proteinuria 169 / 7739
4
(HPO:0001744) Splenomegaly 337 / 7739
5
(HPO:0002240) Hepatomegaly 467 / 7739
6
(HPO:0001396) Cholestasis 136 / 7739
7
(HPO:0000822) Hypertension 224 / 7739
8
(HPO:0003216) Generalized amyloid deposition 4 / 7739
9
(OMIM) Nephropathy with hematuria 2 / 7739
10
(OMIM) Pitting edema 3 / 7739
11
(OMIM) Uremia 3 / 7739
12
(OMIM) Nonneuropathic 2 / 7739
13
(OMIM) Petechial skin rash 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ostertag (1932, 1950) reported on a family with visceral amyloidosis. A woman, 3 of her children, and 1 of her grandchildren were affected with chronic nephropathy, arterial hypertension, and hepatosplenomegaly. Albuminuria, hematuria and pitting edema were early signs. ...
Molecular genetics OMIM In the family with hereditary nonneuropathic systemic amyloidosis previously studied by Zalin et al. (1991) and in another unrelated English family with the disease, Pepys et al. (1993) identified heterozygosity for 2 missense mutations in the LYZ gene, ...