AMYL8
MCID: AMY082
MIFTS: 45

Amyloidosis, Familial Visceral (AMYL8) malady

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

Aliases & Classifications for Amyloidosis, Familial Visceral

Aliases & Descriptions for Amyloidosis, Familial Visceral:

Name: Amyloidosis, Familial Visceral 54 69
Hereditary Amyloid Nephropathy 50 56 69
Familial Visceral Amyloidosis 12 66 14
Familial Amyloid Nephropathy 50 56 66
Familial Renal Amyloidosis 50 56 66
Ostertag Type Amyloidosis 12 50 66
German Type Amyloidosis 12 50 66
Hereditary Amyloidosis with Primary Renal Involement 50 56
Amyloidosis, 3 or More Types 54 13
Hereditary Renal Amyloidosis 50 56
Amyloidosis, Ostertag Type 50 56
Amyloidosis Viii 50 66
Amyloidosis 8 50 66
Systemic Non-Neuropathic Amyloidosis 66
Amyloidosis, Systemic Nonneuropathic 52
Systemic Nonneuropathic Amyloidosis 12
Amyloidosis Systemic Nonneuropathic 50
Amyloidosis Familial Visceral 50
Amyloidosis, Familial Renal 12
Amyloidosis Familial Renal 50
Amyloid Nephropathy 69
Amyloidosis, Renal 54
Renal Amyloidosis 52
Amyl8 66

Characteristics:

Orphanet epidemiological data:

56
hereditary amyloidosis with primary renal involement
Inheritance: Autosomal dominant; Age of onset: All ages;

HPO:

32
amyloidosis, familial visceral:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 105200
Disease Ontology 12 DOID:0050636
Orphanet 56 ORPHA85450
ICD10 via Orphanet 34 E85.0
MedGen 40 C0268389
MeSH 42 D028226

Summaries for Amyloidosis, Familial Visceral

UniProtKB/Swiss-Prot : 66 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 hereditary amyloid nephropathy, is related to muckle-wells syndrome and apoa1-related familial visceral amyloidosis, and has symptoms including edema, hypertension and splenomegaly. An important gene associated with Amyloidosis, Familial Visceral is FGA (Fibrinogen Alpha Chain), and among its related pathways/superpathways are Innate Immune System and Metabolism of proteins. The drugs Doxycycline and Tauroursodeoxycholic acid have been mentioned in the context of this disorder. Affiliated tissues include skin, kidney and bone, and related phenotypes are homeostasis/metabolism and hematopoietic system

Wikipedia : 71 Familial renal amyloidosis (or familial visceral amyloidosis, or hereditary amyloid nephropathy) is a... more...

Description from OMIM: 105200

Related Diseases for Amyloidosis, Familial Visceral

Diseases in the Amyloidosis, Familial Visceral family:

Apoa1-Related Familial Visceral Amyloidosis Fga-Related Familial Visceral Amyloidosis
Lyz-Related Familial Visceral Amyloidosis

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

(show all 46)
id Related Disease Score Top Affiliating Genes
1 muckle-wells syndrome 31.8 MEFV TNFRSF1A
2 apoa1-related familial visceral amyloidosis 12.0
3 fga-related familial visceral amyloidosis 12.0
4 lyz-related familial visceral amyloidosis 12.0
5 familial progressive cardiac conduction defect 10.3 APOA1 APOA2
6 tyrosinemia, type ii 10.2 APOA1 APOA2
7 choriodal dystrophy, central areolar 2 10.2 B2M LYZ TTR
8 oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies 10.2 MEFV TNFRSF1A
9 spondylocostal dysostosis-hypospadias-intellectual disability syndrome 10.2 MEFV TNFRSF1A
10 arthrogryposis, lethal, with anterior horn cell disease 10.2 GSN TTR
11 anaplastic ependymoma 10.1 APOA1 GSN TTR
12 alopecia-mental retardation syndrome 3 10.1 APOA1 GSN TTR
13 candidiasis, familial, 4, autosomal recessive 10.1 MEFV TNFRSF1A
14 amyloidosis 10.1
15 malignant perineurioma 10.1 MEFV TNFRSF1A
16 acute female pelvic peritonitis 10.1 LPA TTR
17 cellulitis 10.1 GSN SAA1 TTR
18 albinism, oculocutaneous, type v 10.1 APOA1 APOA2 LPA
19 pyloric stenosis, infantile hypertrophic, 2 10.1 MEFV SAA1 TNFRSF1A
20 bird fancier's lung 10.1 APOA1 APOA2 LPA
21 stone in bladder diverticulum 10.0 APOA1 APOA2 LPA
22 von willebrand disease, platelet-type 10.0 APOA1 APOA2 LPA
23 neuropathy, hereditary sensory and autonomic, type ia 10.0 APOA1 APOA2 LPA
24 hypertriglyceridemia 10.0 APOA1 APOA2 LPA
25 immunodeficiency 18 10.0 APOA1 APOA2 LPA
26 body dysmorphic disorder 10.0 APOA1 IAPP TTR
27 conjunctival vascular disease 10.0 APP LYZ TNFRSF1A
28 diverticulitis of colon 10.0 APP SAA1
29 ectodermal dysplasia mental retardation syndactyly 9.9 APP PSEN1
30 immunodeficiency 9 9.9 SAA1 TNFRSF1A
31 foxp2-related speech and language disorders 9.9 APP PSEN1
32 limited scleroderma 9.9 APP PSEN1 TTR
33 encephalitozoonosis 9.8 APP PSEN1
34 hereditary lymphedema type ii 9.8 APOA1 APOA2 B2M FGA GSN LYZ
35 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 9.7 APP GSN PSEN1 TTR
36 crescentic glomerulonephritis 9.5
37 papillary carcinoma 9.5
38 peritonitis 9.5
39 al amyloidosis 9.5
40 ah amyloidosis 9.5
41 factor x deficiency 9.5
42 glomerulonephritis 9.5
43 renal oncocytoma 9.5
44 anaplastic ganglioglioma 9.5 APOA1 B2M LPA MEFV SAA1 SAA2
45 hard palate cancer 8.3 APOA1 APOA2 APP B2M FGA GSN
46 van maldergem syndrome 2 8.1 APOA1 APOA2 APP B2M FGA GSN

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 by clinical synopsis from OMIM:

105200

Clinical features from OMIM:

105200

Human phenotypes related to Amyloidosis, Familial Visceral:

32 (show all 11)
id Description HPO Frequency HPO Source Accession
1 edema 32 HP:0000969
2 hypertension 32 HP:0000822
3 splenomegaly 32 HP:0001744
4 hepatomegaly 32 HP:0002240
5 proteinuria 32 HP:0000093
6 nephropathy 32 HP:0000112
7 nephrotic syndrome 32 HP:0000100
8 hematuria 32 HP:0000790
9 cholestasis 32 HP:0001396
10 skin rash 32 HP:0000988
11 generalized amyloid deposition 32 HP:0003216

MGI Mouse Phenotypes related to Amyloidosis, Familial Visceral:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.07 IAPP LYZ MEFV PSEN1 SAA1 TNFRSF1A
2 hematopoietic system MP:0005397 9.97 APP B2M FGA GSN IAPP LYZ
3 immune system MP:0005387 9.81 IAPP LYZ MEFV PSEN1 TNFRSF1A APP
4 integument MP:0010771 9.61 APOA1 APP B2M FGA GSN LYZ
5 liver/biliary system MP:0005370 9.1 APOA1 B2M FGA LYZ MEFV TNFRSF1A

Drugs & Therapeutics for Amyloidosis, Familial Visceral

Drugs for Amyloidosis, Familial Visceral (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxycycline Approved, Investigational, Vet_approved Phase 2 564-25-0 54671203
2
Tauroursodeoxycholic acid Approved, Investigational Phase 2 14605-22-2 12443252
3 Anti-Bacterial Agents Phase 2
4 Anti-Infective Agents Phase 2
5 Antimalarials Phase 2
6 Antiparasitic Agents Phase 2
7 Antiprotozoal Agents Phase 2
8 Antiviral Agents Phase 2
9 Cholagogues and Choleretics Phase 2
10 Gastrointestinal Agents Phase 2
11 Taurochenodeoxycholic Acid Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 Safety, Efficacy and Pharmacokinetics of Doxycycline Plus Tauroursodeoxycholic Acid in Transthyretin Amyloidosis Completed NCT01171859 Phase 2

Search 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:

39
Skin, Kidney, Bone

Publications for Amyloidosis, Familial Visceral

Variations for Amyloidosis, Familial Visceral

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

66
id 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)
id 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:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.66 APP B2M FGA GSN LYZ MEFV
2
Show member pathways
13.34 APOA1 APP B2M FGA GSN IAPP
3
Show member pathways
13.23 APOA1 APP B2M FGA GSN IAPP
4
Show member pathways
11.59 APOA1 SAA1 SAA2 SAA4
5 10.68 APOA1 APOA2
6 10.57 APP PSEN1 TNFRSF1A
7 10.44 APP SAA1

GO Terms for Amyloidosis, Familial Visceral

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.97 APOA1 APOA2 APP B2M FGA GSN
2 cell surface GO:0009986 9.8 APOA1 APP B2M FGA PSEN1 TNFRSF1A
3 endoplasmic reticulum lumen GO:0005788 9.77 APOA1 APOA2 APP B2M FGA
4 blood microparticle GO:0072562 9.71 APOA1 APOA2 FGA GSN
5 very-low-density lipoprotein particle GO:0034361 9.51 APOA1 APOA2
6 endocytic vesicle lumen GO:0071682 9.49 APOA1 SAA1
7 chylomicron GO:0042627 9.48 APOA1 APOA2
8 spherical high-density lipoprotein particle GO:0034366 9.46 APOA1 APOA2
9 extracellular space GO:0005615 9.44 APOA1 APOA2 APP B2M FGA GSN
10 ciliary rootlet GO:0035253 9.43 APP PSEN1
11 high-density lipoprotein particle GO:0034364 9.35 APOA1 APOA2 SAA1 SAA2 SAA4
12 extracellular exosome GO:0070062 10 APOA1 APOA2 APP B2M FGA GSN

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

(show all 37)
id Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.98 APP B2M FGA MEFV SAA1
2 neutrophil degranulation GO:0043312 9.97 B2M GSN LYZ PSEN1 TTR
3 post-translational protein modification GO:0043687 9.96 APOA1 APOA2 APP FGA
4 platelet degranulation GO:0002576 9.83 APOA1 APP FGA
5 lipid transport GO:0006869 9.83 APOA1 APOA2 LPA
6 cholesterol metabolic process GO:0008203 9.8 APOA1 APOA2 APP
7 retinoid metabolic process GO:0001523 9.73 APOA1 APOA2 TTR
8 lipoprotein metabolic process GO:0042157 9.69 APOA1 APOA2 LPA
9 cholesterol efflux GO:0033344 9.67 APOA1 APOA2
10 cholesterol transport GO:0030301 9.67 APOA1 APOA2
11 regulation of protein binding GO:0043393 9.67 APP PSEN1
12 reverse cholesterol transport GO:0043691 9.65 APOA1 APOA2
13 high-density lipoprotein particle remodeling GO:0034375 9.64 APOA1 APOA2
14 high-density lipoprotein particle assembly GO:0034380 9.64 APOA1 APOA2
15 low-density lipoprotein particle remodeling GO:0034374 9.63 APOA2 LPA
16 phospholipid efflux GO:0033700 9.63 APOA1 APOA2
17 lipoprotein biosynthetic process GO:0042158 9.62 APOA1 APOA2
18 chylomicron assembly GO:0034378 9.61 APOA1 APOA2
19 positive regulation of cholesterol esterification GO:0010873 9.61 APOA1 APOA2
20 acute-phase response GO:0006953 9.61 SAA1 SAA2 SAA4
21 chylomicron remodeling GO:0034371 9.6 APOA1 APOA2
22 high-density lipoprotein particle clearance GO:0034384 9.59 APOA1 APOA2
23 amyloid fibril formation GO:1990000 9.58 APP GSN
24 positive chemotaxis GO:0050918 9.58 SAA1 SAA2 SAA4
25 cellular response to beta-amyloid GO:1904646 9.55 APP PSEN1
26 negative regulation of cytokine secretion involved in immune response GO:0002740 9.54 APOA1 APOA2
27 peptidyl-methionine modification GO:0018206 9.52 APOA1 APOA2
28 regulation of intestinal cholesterol absorption GO:0030300 9.49 APOA1 APOA2
29 regulation of epidermal growth factor-activated receptor activity GO:0007176 9.48 APP PSEN1
30 negative regulation of lipase activity GO:0060192 9.46 APOA1 APOA2
31 astrocyte activation involved in immune response GO:0002265 9.37 APP PSEN1
32 cellular protein metabolic process GO:0044267 9.36 APOA1 APOA2 APP B2M FGA GSN
33 protein oxidation GO:0018158 9.32 APOA1 APOA2
34 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.26 APOA1 APOA2
35 negative regulation of inflammatory response GO:0050728 9.26 APOA1 MEFV SAA1 TNFRSF1A
36 smooth endoplasmic reticulum calcium ion homeostasis GO:0051563 9.16 APP PSEN1
37 apoptotic process GO:0006915 10.05 APP GSN IAPP PSEN1 TNFRSF1A

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

id Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.85 APOA1 APP B2M IAPP LYZ TTR
2 lipid transporter activity GO:0005319 9.48 APOA1 APOA2
3 phosphatidylcholine binding GO:0031210 9.46 APOA1 APOA2
4 cholesterol transporter activity GO:0017127 9.43 APOA1 APOA2
5 high-density lipoprotein particle binding GO:0008035 9.4 APOA1 APOA2
6 lipase inhibitor activity GO:0055102 9.32 APOA1 APOA2
7 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.26 APOA1 APOA2
8 apolipoprotein receptor binding GO:0034190 9.16 APOA1 APOA2
9 high-density lipoprotein particle receptor binding GO:0070653 8.96 APOA1 APOA2
10 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....