Autosomal dominant beta2-microglobulinic amyloidosis

General Information (adopted from Orphanet):

Synonyms, Signs: AMYLOIDOSIS, FAMILIAL RENAL
AMYLOIDOSIS VIII
AMYLOIDOSIS, SYSTEMIC NONNEUROPATHIC
GERMAN TYPE AMYLOIDOSIS
OSTERTAG TYPE AMYLOIDOSIS
Number of Symptoms 17
OrphanetNr: 314652
OMIM Id: 105200
ICD-10: E85.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Amyloidosis
 -Rare systemic or rheumatologic disease
Rare genetic systemic or rheumatologic disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000790) Hematuria 106 / 7739
2
(HPO:0000093) Proteinuria 169 / 7739
3
(HPO:0000112) Nephropathy 92 / 7739
4
(HPO:0000100) Nephrotic syndrome 83 / 7739
5
(HPO:0002240) Hepatomegaly 467 / 7739
6
(HPO:0001744) Splenomegaly 337 / 7739
7
(HPO:0001396) Cholestasis 136 / 7739
8
(HPO:0000988) Skin rash 98 / 7739
9
(HPO:0000822) Hypertension 224 / 7739
10
(HPO:0003216) Generalized amyloid deposition 4 / 7739
11
(HPO:0000969) Edema 117 / 7739
12
(OMIM) Petechial skin rash 2 / 7739
13
(OMIM) Pitting edema 3 / 7739
14
(OMIM) Nephropathy with hematuria 2 / 7739
15
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
16
(OMIM) Nonneuropathic 2 / 7739
17
(OMIM) Uremia 3 / 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, ...