MCID: AMY082
MIFTS: 47

Amyloidosis, Familial Visceral

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Neuronal diseases, Bone diseases, Metabolic diseases

Aliases & Classifications for Amyloidosis, Familial Visceral

MalaCards integrated aliases for Amyloidosis, Familial Visceral:

Name: Amyloidosis, Familial Visceral 53 69
Ostertag Type Amyloidosis 53 12 49 71
German Type Amyloidosis 53 12 49 71
Hereditary Amyloid Nephropathy 49 55 69
Familial Visceral Amyloidosis 12 71 14
Familial Amyloid Nephropathy 49 55 71
Familial Renal Amyloidosis 49 55 71
Amyloidosis Viii 53 49 71
Hereditary Amyloidosis with Primary Renal Involement 49 55
Amyloidosis, Systemic Nonneuropathic 53 51
Amyloidosis, 3 or More Types 53 13
Hereditary Renal Amyloidosis 49 55
Amyloidosis, Familial Renal 53 12
Amyloidosis, Ostertag Type 49 55
Amyloidosis 8 49 71
Systemic Non-Neuropathic Amyloidosis 71
Systemic Nonneuropathic Amyloidosis 12
Amyloidosis Systemic Nonneuropathic 49
Amyloidosis Familial Visceral 49
Amyloidosis Familial Renal 49
Amyloid Nephropathy 69
Amyloidosis, Renal 53
Renal Amyloidosis 51
Amyl8 71

Characteristics:

Orphanet epidemiological data:

55
hereditary amyloidosis with primary renal involement
Inheritance: Autosomal dominant; Age of onset: All ages;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
amyloidosis, familial visceral:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Amyloidosis, Familial Visceral

UniProtKB/Swiss-Prot : 71 Amyloidosis 8: A form of hereditary generalized amyloidosis. Clinical features include extensive visceral amyloid deposits, renal amyloidosis resulting in nephrotic syndrome, arterial hypertension, hepatosplenomegaly, cholestasis, petechial skin rash. There is no involvement of the nervous system.

MalaCards based summary : Amyloidosis, Familial Visceral, also known as ostertag type amyloidosis, is related to al amyloidosis and familial mediterranean fever, and has symptoms including edema, hypertension and splenomegaly. An important gene associated with Amyloidosis, Familial Visceral is B2M (Beta-2-Microglobulin), and among its related pathways/superpathways are Metabolism of proteins and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. Affiliated tissues include skin and bone, and related phenotypes are homeostasis/metabolism and hematopoietic system

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Hereditary amyloidosis.

Description from OMIM: 105200

Related Diseases for Amyloidosis, Familial Visceral

Diseases related to Amyloidosis, Familial Visceral via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 al amyloidosis 30.0 LYZ TTR
2 familial mediterranean fever 28.7 MEFV SAA1 SAA2 SAA4 TNFRSF1A
3 amyloidosis 26.7 APOA1 B2M FGA GSN IAPP LYZ
4 muckle-wells syndrome 11.3
5 familial lcat deficiency 10.5 APOA1 APOA2
6 fish-eye disease 10.5 APOA1 APOA2
7 oculogyric crisis 10.5 B2M FGA
8 tibial neuropathy 10.4 B2M TTR
9 tarsal tunnel syndrome 10.4 B2M TTR
10 median rhomboid glossitis 10.4 B2M TTR
11 erysipeloid 10.4 LYZ MEFV
12 diffuse glomerulonephritis 10.4 B2M LYZ
13 erysipelas 10.4 LYZ MEFV
14 retinitis pigmentosa 7 10.3 B2M LYZ TTR
15 amyloidosis, finnish type 10.3 GSN TTR
16 inflammatory myopathy with abundant macrophages 10.3 MEFV TNFRSF1A
17 intermittent hydrarthrosis 10.3 MEFV TNFRSF1A
18 nerve compression syndrome 10.3 B2M TTR
19 idiopathic recurrent pericarditis 10.3 MEFV TNFRSF1A
20 hyperlipoproteinemia, type iv 10.3 APOA1 APOA2
21 immunodeficiency 43 10.2 B2M FCGRT
22 familial cold autoinflammatory syndrome 1 10.2 MEFV TNFRSF1A
23 hyper-igd syndrome 10.2 SAA1 TNFRSF1A
24 amyloid neuropathy 10.2 APOA1 GSN TTR
25 amyloidosis, hereditary, transthyretin-related 10.2 APOA1 GSN TTR
26 amyloid tumor 10.2 B2M TTR
27 pediatric multiple sclerosis 10.2 GSN TTR
28 pyelitis 10.2 B2M LYZ
29 polyneuropathy 10.2 APOA1 GSN TTR
30 relapsing fever 10.1 MEFV TNFRSF1A
31 blepharochalasis 10.1 GSN SAA1 TTR
32 periodic fever, familial, autosomal dominant 10.1 LYZ MEFV TNFRSF1A
33 carotenemia 10.0 LPA TTR
34 renal tuberculosis 10.0 B2M LYZ
35 lipoprotein glomerulopathy 10.0 APOA2 LPA
36 leukodystrophy, hypomyelinating, 3 9.9 APOA1 APOA2 LPA
37 hypolipoproteinemia 9.9 APOA1 APOA2 LPA
38 arcus corneae 9.9 APOA1 APOA2 LPA
39 lecithin:cholesterol acyltransferase deficiency 9.9 APOA1 APOA2 LPA
40 coronary heart disease 1 9.9 APOA1 APOA2 LPA
41 tangier disease 9.9 APOA1 APOA2 LPA
42 coronary artery anomaly 9.8 APOA1 APOA2 LPA
43 hypercholesterolemia, familial 9.8 APOA1 APOA2 LPA
44 diabetes mellitus, insulin-dependent 9.6 APOA1 B2M IAPP LPA
45 factor x deficiency 9.6
46 brucellosis 9.6
47 nephrotic syndrome 9.6
48 papillary carcinoma 9.6
49 peritonitis 9.6
50 ah amyloidosis 9.6

Graphical network of the top 20 diseases related to Amyloidosis, Familial Visceral:



Diseases related to Amyloidosis, Familial Visceral

Symptoms & Phenotypes for Amyloidosis, Familial Visceral

Symptoms via clinical synopsis from OMIM:

53
Endocrine:
hypertension

Lab:
proteinuria
hematuria
generalized amyloid deposition

Skin:
pitting edema
petechial skin rash

Misc:
chronic weakness

GI:
splenomegaly
hepatomegaly
cholestasis

GU:
nephrotic syndrome
nephropathy with hematuria
uremia

Neuro:
nonneuropathic


Clinical features from OMIM:

105200

Human phenotypes related to Amyloidosis, Familial Visceral:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 edema 31 HP:0000969
2 hypertension 31 HP:0000822
3 splenomegaly 31 HP:0001744
4 hepatomegaly 31 HP:0002240
5 proteinuria 31 HP:0000093
6 nephropathy 31 HP:0000112
7 nephrotic syndrome 31 HP:0000100
8 hematuria 31 HP:0000790
9 cholestasis 31 HP:0001396
10 skin rash 31 HP:0000988
11 generalized amyloid deposition 31 HP:0003216

MGI Mouse Phenotypes related to Amyloidosis, Familial Visceral:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.07 APOA1 APOA2 B2M FCGRT FGA GSN
2 hematopoietic system MP:0005397 9.97 B2M FCGRT FGA GSN IAPP LYZ
3 immune system MP:0005387 9.81 B2M FCGRT FGA GSN IAPP LYZ
4 integument MP:0010771 9.56 APOA1 B2M FGA GSN LYZ MEFV
5 liver/biliary system MP:0005370 9.1 FGA LYZ MEFV TNFRSF1A APOA1 B2M

Drugs & Therapeutics for Amyloidosis, Familial Visceral

Search Clinical Trials , NIH Clinical Center for Amyloidosis, Familial Visceral

Genetic Tests for Amyloidosis, Familial Visceral

Anatomical Context for Amyloidosis, Familial Visceral

MalaCards organs/tissues related to Amyloidosis, Familial Visceral:

38
Skin, Bone

Publications for Amyloidosis, Familial Visceral

Articles related to Amyloidosis, Familial Visceral:

# Title Authors Year
1
A novel lysozyme mutation Phe57Ile associated with hereditary renal amyloidosis. ( 12675840 )
2003
2
Hereditary renal amyloidosis caused by a new variant lysozyme W64R in a French family. ( 11849445 )
2002
3
Hereditary renal amyloidosis associated with variant lysozyme in a large English family. ( 10534505 )
1999
4
Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain. ( 8097946 )
1993

Variations for Amyloidosis, Familial Visceral

UniProtKB/Swiss-Prot genetic disease variations for Amyloidosis, Familial Visceral:

71
# Symbol AA change Variation ID SNP ID
1 APOA1 p.Gly50Arg VAR_000609 rs28931574
2 APOA1 p.Leu84Arg VAR_000610 rs121912724
3 B2M p.Asp96Asn VAR_076691 rs398122820
4 FGA p.Glu545Val VAR_010731 rs121909612
5 FGA p.Arg573Leu VAR_010732 rs78506343
6 LYZ p.Ile74Thr VAR_004280 rs121913547
7 LYZ p.Asp85His VAR_004281 rs121913548

ClinVar genetic disease variations for Amyloidosis, Familial Visceral:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 LYZ NM_000239.2(LYZ): c.221T> C (p.Ile74Thr) single nucleotide variant Pathogenic rs121913547 GRCh37 Chromosome 12, 69743972: 69743972
2 LYZ NM_000239.2(LYZ): c.199G> C (p.Asp67His) single nucleotide variant Pathogenic rs387906535 GRCh37 Chromosome 12, 69743950: 69743950
3 LYZ NM_000239.2(LYZ): c.244T> C (p.Trp82Arg) single nucleotide variant Pathogenic rs387906536 GRCh37 Chromosome 12, 69743995: 69743995
4 LYZ NM_000239.2(LYZ): c.223T> A (p.Phe75Ile) single nucleotide variant Pathogenic rs121913549 GRCh37 Chromosome 12, 69743974: 69743974
5 LYZ NM_000239.2(LYZ): c.244T> A (p.Trp82Arg) single nucleotide variant Pathogenic rs387906536 GRCh37 Chromosome 12, 69743995: 69743995
6 FGA NM_000508.4(FGA): c.1718G> T (p.Arg573Leu) single nucleotide variant Pathogenic rs78506343 GRCh37 Chromosome 4, 155506863: 155506863
7 FGA NM_000508.4(FGA): c.1622delT (p.Val541Alafs) deletion Pathogenic rs587777761 GRCh38 Chromosome 4, 154585807: 154585807
8 FGA NM_000508.4(FGA): c.1634A> T (p.Glu545Val) single nucleotide variant Pathogenic rs121909612 GRCh37 Chromosome 4, 155506947: 155506947
9 FGA NM_000508.4(FGA): c.1629delG (p.Thr544Leufs) deletion Pathogenic rs587777762 GRCh37 Chromosome 4, 155506952: 155506952
10 FGA NM_000508.4(FGA): c.991A> G (p.Thr331Ala) single nucleotide variant risk factor rs6050 GRCh37 Chromosome 4, 155507590: 155507590
11 APOA1 NM_000039.2(APOA1): c.251T> G (p.Leu84Arg) single nucleotide variant Pathogenic rs121912724 GRCh37 Chromosome 11, 116707077: 116707077
12 APOA1 APOA1, 12-BP DEL AND 2-BP INS indel Pathogenic
13 APOA1 NM_000039.2(APOA1): c.220T> C (p.Trp74Arg) single nucleotide variant Pathogenic rs121912726 GRCh37 Chromosome 11, 116707108: 116707108
14 APOA1 NM_000039.2(APOA1): c.593T> C (p.Leu198Ser) single nucleotide variant Pathogenic rs121912729 GRCh37 Chromosome 11, 116706735: 116706735
15 APOA1 NM_000039.2(APOA1): c.595G> C (p.Ala199Pro) single nucleotide variant Pathogenic rs121912730 GRCh37 Chromosome 11, 116706733: 116706733
16 B2M NM_004048.2(B2M): c.286G> A (p.Asp96Asn) single nucleotide variant Pathogenic rs398122820 GRCh37 Chromosome 15, 45007839: 45007839

Expression for Amyloidosis, Familial Visceral

Search GEO for disease gene expression data for Amyloidosis, Familial Visceral.

Pathways for Amyloidosis, Familial Visceral

Pathways related to Amyloidosis, Familial Visceral according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.35 APOA1 B2M FGA GSN IAPP LYZ
2
Show member pathways
13.28 APOA1 B2M FGA GSN IAPP LYZ
3
Show member pathways
11.26 APOA1 SAA1 SAA2 SAA4
4
Show member pathways
11.2 APOA1 APOA2 LPA
5 10.78 APOA1 APOA2
6 10.43 APOA1 APOA2

GO Terms for Amyloidosis, Familial Visceral

Cellular components related to Amyloidosis, Familial Visceral according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.96 APOA1 APOA2 B2M FGA GSN LYZ
2 extracellular region GO:0005576 9.93 APOA1 APOA2 B2M FGA GSN IAPP
3 cell surface GO:0009986 9.8 APOA1 B2M FGA PSEN1 TNFRSF1A
4 endoplasmic reticulum lumen GO:0005788 9.73 APOA1 APOA2 B2M FGA
5 extracellular space GO:0005615 9.73 APOA1 APOA2 B2M FGA GSN IAPP
6 blood microparticle GO:0072562 9.62 APOA1 APOA2 FGA GSN
7 very-low-density lipoprotein particle GO:0034361 9.49 APOA1 APOA2
8 endocytic vesicle lumen GO:0071682 9.48 APOA1 SAA1
9 chylomicron GO:0042627 9.46 APOA1 APOA2
10 spherical high-density lipoprotein particle GO:0034366 9.37 APOA1 APOA2
11 high-density lipoprotein particle GO:0034364 9.02 APOA1 APOA2 SAA1 SAA2 SAA4

Biological processes related to Amyloidosis, Familial Visceral according to GeneCards Suite gene sharing:

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.91 B2M GSN LYZ PSEN1 TTR
2 lipid transport GO:0006869 9.78 APOA1 APOA2 LPA
3 retinoid metabolic process GO:0001523 9.67 APOA1 APOA2 TTR
4 cholesterol transport GO:0030301 9.62 APOA1 APOA2
5 lipoprotein metabolic process GO:0042157 9.62 APOA1 APOA2
6 cholesterol efflux GO:0033344 9.61 APOA1 APOA2
7 reverse cholesterol transport GO:0043691 9.6 APOA1 APOA2
8 high-density lipoprotein particle remodeling GO:0034375 9.59 APOA1 APOA2
9 high-density lipoprotein particle assembly GO:0034380 9.58 APOA1 APOA2
10 low-density lipoprotein particle remodeling GO:0034374 9.58 APOA2 LPA
11 phospholipid efflux GO:0033700 9.57 APOA1 APOA2
12 chylomicron assembly GO:0034378 9.56 APOA1 APOA2
13 positive regulation of cholesterol esterification GO:0010873 9.55 APOA1 APOA2
14 chylomicron remodeling GO:0034371 9.54 APOA1 APOA2
15 positive chemotaxis GO:0050918 9.54 SAA1 SAA2 SAA4
16 high-density lipoprotein particle clearance GO:0034384 9.52 APOA1 APOA2
17 negative regulation of cytokine secretion involved in immune response GO:0002740 9.48 APOA1 APOA2
18 peptidyl-methionine modification GO:0018206 9.46 APOA1 APOA2
19 regulation of intestinal cholesterol absorption GO:0030300 9.43 APOA1 APOA2
20 negative regulation of lipase activity GO:0060192 9.4 APOA1 APOA2
21 acute-phase response GO:0006953 9.33 SAA1 SAA2 SAA4
22 protein oxidation GO:0018158 9.32 APOA1 APOA2
23 cellular protein metabolic process GO:0044267 9.32 APOA1 APOA2 B2M FGA GSN IAPP
24 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.26 APOA1 APOA2
25 negative regulation of inflammatory response GO:0050728 9.26 APOA1 MEFV SAA1 TNFRSF1A

Molecular functions related to Amyloidosis, Familial Visceral according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.88 APOA1 B2M IAPP LYZ MEFV TTR
2 phosphatidylcholine binding GO:0031210 9.46 APOA1 APOA2
3 cholesterol transporter activity GO:0017127 9.43 APOA1 APOA2
4 high-density lipoprotein particle binding GO:0008035 9.37 APOA1 APOA2
5 lipase inhibitor activity GO:0055102 9.32 APOA1 APOA2
6 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.26 APOA1 APOA2
7 high-density lipoprotein particle receptor binding GO:0070653 9.16 APOA1 APOA2
8 apolipoprotein receptor binding GO:0034190 8.96 APOA1 APOA2
9 chemoattractant activity GO:0042056 8.8 SAA1 SAA2 SAA4

Sources for Amyloidosis, Familial Visceral

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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