AMYL8
MCID: AMY082
MIFTS: 57

Amyloidosis, Familial Visceral (AMYL8)

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

Aliases & Classifications for Amyloidosis, Familial Visceral

MalaCards integrated aliases for Amyloidosis, Familial Visceral:

Name: Amyloidosis, Familial Visceral 56 71
Ostertag Type Amyloidosis 56 12 52 73
German Type Amyloidosis 56 12 52 73
Hereditary Amyloid Nephropathy 52 58 71
Familial Visceral Amyloidosis 12 73 15
Familial Amyloid Nephropathy 52 58 73
Familial Renal Amyloidosis 52 58 73
Amyloidosis Viii 56 52 73
Hereditary Amyloidosis with Primary Renal Involvement 52 58
Amyloidosis, Systemic Nonneuropathic 56 54
Amyloidosis, 3 or More Types 56 13
Hereditary Renal Amyloidosis 52 58
Amyloidosis, Familial Renal 56 12
Amyloidosis, Ostertag Type 52 58
Amyloidosis 8 52 73
Hereditary Amyloidosis with Primary Renal Involement 52
Systemic Non-Neuropathic Amyloidosis 73
Systemic Nonneuropathic Amyloidosis 12
Amyloidosis Systemic Nonneuropathic 52
Amyloidosis Familial Visceral 52
Amyloidosis Familial Renal 52
Amyloid Nephropathy 71
Amyloidosis, Renal 56
Renal Amyloidosis 54
Amyl8 73

Characteristics:

Orphanet epidemiological data:

58
hereditary amyloidosis with primary renal involvement
Inheritance: Autosomal dominant; Age of onset: All ages;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
amyloidosis, familial visceral:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare renal diseases
Rare systemic and rhumatological diseases


External Ids:

Disease Ontology 12 DOID:0050636
OMIM 56 105200
MeSH 43 D028226
ICD10 via Orphanet 33 E85.0
Orphanet 58 ORPHA85450
MedGen 41 C0268389
UMLS 71 C0268382 C0268389 C1719313

Summaries for Amyloidosis, Familial Visceral

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85450 Definition A group of rare renal diseases , characterized by amyloid fibril deposition of apolipoprotein A-I or A-II (AApoAI or AApoAII amyloidosis), lysozyme (ALys amyloidosis) or fibrinogen A-alpha chain (AFib amyloidosis) in one or several organs . Renal involvement leading to chronic renal disease and renal failure is a common sign. Additional manifestations depend on the organ involved and the type of amyloid fibrils deposited. Visit the Orphanet disease page for more resources.

MalaCards based summary : Amyloidosis, Familial Visceral, also known as ostertag type amyloidosis, is related to al amyloidosis and amyloidosis aa. An important gene associated with Amyloidosis, Familial Visceral is B2M (Beta-2-Microglobulin), and among its related pathways/superpathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Metabolism of proteins. The drugs Colchicine and Rilonacept have been mentioned in the context of this disorder. Affiliated tissues include visceral, kidney and skin, and related phenotypes are hypertension and splenomegaly

Disease Ontology : 12 An amyloidosis that is characterized by the abdnormal deposition of amyloid proteins that is located in the visceral organs, primarily the kidneys.

UniProtKB/Swiss-Prot : 73 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.

Wikipedia : 74 Familial renal amyloidosis is a form of amyloidosis primarily presenting in the... more...

More information 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 289)
# Related Disease Score Top Affiliating Genes
1 al amyloidosis 31.0 LYZ B2M
2 amyloidosis aa 30.3 TTR SAA4 SAA1 MEFV B2M APOA1
3 familial mediterranean fever 30.1 SAA4 SAA1 MEFV
4 hypercholesterolemia, familial, 1 29.9 APOE APOA2 APOA1
5 polyneuropathy 29.6 TTR GSN APOA2 APOA1 APCS
6 chronic kidney disease 29.6 TTR B2M APOE APOA1
7 hereditary amyloidosis 29.4 TTR LYZ GSN FGA B2M APOA2
8 lipid metabolism disorder 29.4 APOE APOC3 APOA2 APOA1
9 kidney disease 29.2 TTR B2M APOE APOC3 APOA4 APOA1
10 amyloidosis, hereditary, transthyretin-related 29.2 TTR IAPP GSN B2M APOA2 APOA1
11 hypertriglyceridemia, familial 29.1 APOE APOC3 APOC2 APOA2 APOA1
12 vascular disease 29.0 FGA APOE APOC3 APOC2 APOA1
13 amyloidosis 27.9 TTR SAA4 SAA1 MEFV LYZ LECT2
14 familial cold autoinflammatory syndrome 1 11.7
15 muckle-wells syndrome 11.7
16 aapoaii amyloidosis 11.4
17 afib amyloidosis 11.4
18 aapoai amyloidosis 11.4
19 familial mediterranean fever, autosomal dominant 11.2
20 amyloid tumor 10.5 TTR B2M
21 hypoalphalipoproteinemia 10.4 APOA2 APOA1
22 paramyloidosis 10.4 TTR GSN
23 autonomic peripheral neuropathy 10.4 TTR GSN
24 leukodystrophy, hypomyelinating, 3 10.4 APOA2 APOA1
25 fish-eye disease 10.3 APOA2 APOA1
26 pediatric multiple sclerosis 10.3 TTR GSN
27 rheumatoid arthritis 10.3
28 bladder lateral wall cancer 10.3 TTR APCS
29 crohn's disease 10.3
30 carotenemia 10.3 TTR APOA4 APCS
31 asymmetric motor neuropathy 10.2 TTR GSN B2M APOA1
32 pulmonary tuberculosis 10.2
33 hepatic lipase deficiency 10.2 APOE APOA1
34 familial lcat deficiency 10.2 APOE APOA2 APOA1
35 acute kidney failure 10.2
36 juvenile rheumatoid arthritis 10.2
37 huntington disease-like 1 10.2 APOE APOA2 APOA1
38 nerve compression syndrome 10.2 TTR GSN B2M APCS
39 lecithin:cholesterol acyltransferase deficiency 10.2 APOE APOA2 APOA1
40 spondyloarthropathy 1 10.2
41 inflammatory spondylopathy 10.2
42 rapidly progressive glomerulonephritis 10.2
43 spondylitis 10.2
44 lipoprotein glomerulopathy 10.2 APOE APOA2
45 crescentic glomerulonephritis 10.2
46 carotid artery disease 10.1 APOE APOA2 APOA1
47 myeloma, multiple 10.1
48 mycobacterium tuberculosis 1 10.1
49 tangier disease 10.1 APOE APOA2 APOA1
50 cerebral atherosclerosis 10.1 APOE APOA1

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



Diseases related to Amyloidosis, Familial Visceral

Symptoms & Phenotypes for Amyloidosis, Familial Visceral

Human phenotypes related to Amyloidosis, Familial Visceral:

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

Symptoms via clinical synopsis from OMIM:

56
Endocrine:
hypertension

Lab:
proteinuria
hematuria
generalized amyloid deposition

Skin:
pitting edema
petechial skin rash

Misc:
chronic weakness

G I:
splenomegaly
hepatomegaly
cholestasis

G U:
nephrotic syndrome
nephropathy with hematuria
uremia

Neuro:
nonneuropathic

Clinical features from OMIM:

105200

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.09 GSN
2 Decreased viability GR00221-A-3 10.09 AK3
3 Decreased viability GR00240-S-1 10.09 MEFV SAA4
4 Decreased viability GR00381-A-1 10.09 MEFV SAA1
5 Decreased viability GR00381-A-3 10.09 SAA1
6 Decreased viability GR00402-S-2 10.09 AK3 APCS APOA1 APOA2 APOA4 APOC2
7 no effect GR00402-S-1 9.62 AK3 APCS APOA1 APOA2 APOA4 APOC2
8 Decreased free cholesterol GR00340-A-2 9.46 APOA1 APOA4 APOC3 APOE

MGI Mouse Phenotypes related to Amyloidosis, Familial Visceral:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.83 APCS APOA1 APOA2 APOA4 APOC2 APOE
2 liver/biliary system MP:0005370 9.17 APOA1 APOE B2M FGA LECT2 LYZ

Drugs & Therapeutics for Amyloidosis, Familial Visceral

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Colchicine Approved Phase 2 64-86-8 6167 2833
2
Rilonacept Approved, Investigational Phase 2 501081-76-1 104924
3 Antimitotic Agents Phase 2
4 Antirheumatic Agents Phase 2
5 Anti-Inflammatory Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase 2 Study of IL-1 Trap (Rilonacept) for Treatment of Familial Mediterranean Fever (FMF) Completed NCT00582907 Phase 2 Rilonacept;Placebo
2 Association Between Basal Proteinuria Levels and Pregnancy Outcomes in Familial Mediterranean Fever Unknown status NCT02092064
3 Progression of Renal Amyloidosis of FMF and Relation to Serum SAA Level Unknown status NCT01168570
4 Recurrent AA Amyloidosis After Renal Transplantation: Effects on Allograft Survival Completed NCT02704065

Search NIH Clinical Center for Amyloidosis, Familial Visceral

Genetic Tests for Amyloidosis, Familial Visceral

Anatomical Context for Amyloidosis, Familial Visceral

The Foundational Model of Anatomy Ontology organs/tissues related to Amyloidosis, Familial Visceral:

19
Visceral

MalaCards organs/tissues related to Amyloidosis, Familial Visceral:

40
Kidney, Skin, Heart, Liver, Bone, T Cells, Eye

Publications for Amyloidosis, Familial Visceral

Articles related to Amyloidosis, Familial Visceral:

(show all 46)
# Title Authors PMID Year
1
Hereditary systemic amyloidosis due to Asp76Asn variant β2-microglobulin. 56 6
22693999 2012
2
Underdiagnosed amyloidosis: amyloidosis of lysozyme variant. 56 6
15745733 2005
3
Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. 56 6
12050338 2002
4
A frame shift mutation in the fibrinogen A alpha chain gene in a kindred with renal amyloidosis. 56 6
8639778 1996
5
Hereditary renal amyloidosis with a novel variant fibrinogen. 56 6
8113408 1994
6
Human lysozyme gene mutations cause hereditary systemic amyloidosis. 56 6
8464497 1993
7
Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain. 56 6
8097946 1993
8
Familial nephropathic non-neuropathic amyloidosis: clinical features, immunohistochemistry and chemistry. 56 6
1808634 1991
9
Lysozyme amyloidosis: report of 4 cases and a review of the literature. 54 61 6
16523055 2006
10
Antibodies to human serum amyloid P component eliminate visceral amyloid deposits. 56
20962779 2010
11
Cardiac amyloidosis with the E526V mutation of the fibrinogen A alpha-chain. 6
19109585 2008
12
A novel lysozyme mutation Phe57Ile associated with hereditary renal amyloidosis. 6
12675840 2003
13
A family with gastrointestinal amyloidosis associated with variant lysozyme. 6
12360495 2002
14
Glaucoma in primary amyloidosis: a fortuitous or causative association? 56
12208391 2002
15
Hereditary renal amyloidosis caused by a new variant lysozyme W64R in a French family. 6
11849445 2002
16
Hereditary renal amyloidosis associated with variant lysozyme in a large English family. 6
10534505 1999
17
The new apolipoprotein A-I variant leu(174) --> Ser causes hereditary cardiac amyloidosis, and the amyloid fibrils are constituted by the 93-residue N-terminal polypeptide. 6
10487826 1999
18
A novel apolipoprotein A-1 variant, Arg173Pro, associated with cardiac and cutaneous amyloidosis. 6
10198255 1999
19
Renal amyloidosis with a frame shift mutation in fibrinogen aalpha-chain gene producing a novel amyloid protein. 6
9389696 1997
20
The molecular basis of renal amyloidosis in Irish-American and Polish-Canadian kindreds. 6
8944230 1996
21
Hereditary hepatic and systemic amyloidosis caused by a new deletion/insertion mutation in the apolipoprotein AI gene. 6
8675681 1996
22
'Fragile' liver and massive hepatic haemorrhage due to hereditary amyloidosis. 6
8566845 1996
23
Apolipoprotein AI mutation Arg-60 causes autosomal dominant amyloidosis. 6
1502149 1992
24
The United Kingdom Medical Research Council's glomerulonephritis registry. 56
3912110 1985
25
Familial renal amyloidosis: case reports and genetic studies. 56
7124780 1982
26
Familial amyloidosis of Ostertag. 56
7111672 1982
27
Studies on the pathogenesis of a familial form of renal amyloidosis. 56
7344220 1981
28
Familial renal amyloidosis. Case reports, literature review and classification. 56
1138543 1975
29
Amyloid nephropathy of Ostertag with special reference to renal glomerular giant cells. 56
4728894 1973
30
Inherited predisposition to generalized amyloidosis. Clinical and pathological study of a family with neuropathy, nephropathy, and peptic ulcer. 6
4304452 1969
31
The first pure form of Ostertag-type amyloidosis in Japan: a sporadic case of hereditary fibrinogen Aα-chain amyloidosis associated with a novel frameshift variant. 61
26017329 2015
32
Transthyretin amyloid goiter in a renal allograft recipient. 54
18369743 2008
33
Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever. 54
17469185 2007
34
Genetic risk factors of amyloidogenesis in familial Mediterranean fever. 54
16118480 2005
35
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus. 54
16121806 2005
36
Molecular study of FMF patients in Armenia. 54
15720244 2005
37
Influence of Serum Amyloid A (SAA1) and SAA2 gene polymorphisms on renal amyloidosis, and on SAA/C-reactive protein values in patients with familial mediterranean fever in the Turkish population. 54
15170927 2004
38
Hereditary systemic amyloidosis associated with a new apolipoprotein AII stop codon mutation Stop78Arg. 54
12787390 2003
39
Familial mediterranean fever: revisiting an ancient disease. 54
12751000 2003
40
Analysis of the modifying effects of SAA1, SAA2 and TNF-alpha gene polymorphisms on development of amyloidosis in FMF patients. 54
14696796 2003
41
MEFV gene mutations in familial Mediterranean fever phenotype II patients with renal amyloidosis in childhood: a retrospective clinicopathological and molecular study. 54
12401847 2002
42
Renal amyloidosis caused by a novel stop-codon mutation in the apolipoprotein A-II gene. 54
11703582 2001
43
A new human hereditary amyloidosis: the result of a stop-codon mutation in the apolipoprotein AII gene. 54
11401442 2001
44
Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever. 54
11017802 2000
45
MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications. 54
10364520 1999
46
Familial amyloid polyneuropathy type I (Portuguese): distribution and characterization of renal amyloid deposits. 54
9631837 1998

Variations for Amyloidosis, Familial Visceral

ClinVar genetic disease variations for Amyloidosis, Familial Visceral:

6 (show top 50) (show all 78) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LYZ NM_000239.2(LYZ):c.221T>C (p.Ile74Thr)SNV Pathogenic 14374 rs121913547 12:69743972-69743972 12:69350192-69350192
2 LYZ NM_000239.2(LYZ):c.199G>C (p.Asp67His)SNV Pathogenic 14375 rs387906535 12:69743950-69743950 12:69350170-69350170
3 LYZ NM_000239.2(LYZ):c.244T>C (p.Trp82Arg)SNV Pathogenic 14376 rs387906536 12:69743995-69743995 12:69350215-69350215
4 LYZ NM_000239.2(LYZ):c.223T>A (p.Phe75Ile)SNV Pathogenic 14377 rs121913549 12:69743974-69743974 12:69350194-69350194
5 LYZ NM_000239.2(LYZ):c.244T>A (p.Trp82Arg)SNV Pathogenic 14378 rs387906536 12:69743995-69743995 12:69350215-69350215
6 FGA NM_021871.4(FGA):c.1718G>T (p.Arg573Leu)SNV Pathogenic 16408 rs78506343 4:155506863-155506863 4:154585711-154585711
7 FGA NM_021871.4(FGA):c.1622del (p.Val541fs)deletion Pathogenic 16409 rs587777761 4:155506959-155506959 4:154585807-154585807
8 FGA NM_021871.4(FGA):c.1634A>T (p.Glu545Val)SNV Pathogenic 16410 rs121909612 4:155506947-155506947 4:154585795-154585795
9 FGA NM_021871.4(FGA):c.1629del (p.Thr544fs)deletion Pathogenic 16413 rs587777762 4:155506952-155506952 4:154585800-154585800
10 APOA1 NM_000039.2(APOA1):c.251T>G (p.Leu84Arg)SNV Pathogenic 17923 rs121912724 11:116707077-116707077 11:116836361-116836361
11 APOA1 APOA1, 12-BP DEL AND 2-BP INSindel Pathogenic 17927
12 APOA1 NM_000039.2(APOA1):c.220T>C (p.Trp74Arg)SNV Pathogenic 17928 rs121912726 11:116707108-116707108 11:116836392-116836392
13 APOA1 NM_000039.2(APOA1):c.593T>C (p.Leu198Ser)SNV Pathogenic 17933 rs121912729 11:116706735-116706735 11:116836019-116836019
14 APOA1 NM_000039.2(APOA1):c.595G>C (p.Ala199Pro)SNV Pathogenic 17934 rs121912730 11:116706733-116706733 11:116836017-116836017
15 B2M NM_004048.3(B2M):c.286G>A (p.Asp96Asn)SNV Pathogenic 31907 rs398122820 15:45007839-45007839 15:44715641-44715641
16 FGA NM_021871.4(FGA):c.1621G>C (p.Val541Leu)SNV Uncertain significance 802095 4:155506960-155506960 4:154585808-154585808
17 FGA NM_021871.4(FGA):c.616C>G (p.Gln206Glu)SNV Uncertain significance 347818 rs560732073 4:155507965-155507965 4:154586813-154586813
18 FGA NM_021871.4(FGA):c.919A>G (p.Asn307Asp)SNV Uncertain significance 347813 rs750564329 4:155507662-155507662 4:154586510-154586510
19 FGA NM_021871.4(FGA):c.1417G>A (p.Asp473Asn)SNV Uncertain significance 347811 rs200378626 4:155507164-155507164 4:154586012-154586012
20 FGA NM_021871.4(FGA):c.450G>A (p.Gln150=)SNV Uncertain significance 347820 rs368446857 4:155508724-155508724 4:154587572-154587572
21 LYZ NM_000239.2(LYZ):c.*814C>ASNV Uncertain significance 310353 rs886049810 12:69747813-69747813 12:69354033-69354033
22 LYZ NM_000239.2(LYZ):c.*330C>TSNV Uncertain significance 310341 rs886049805 12:69747329-69747329 12:69353549-69353549
23 LYZ NM_000239.2(LYZ):c.*289_*290insTTTTTTTTTTTTTinsertion Uncertain significance 310340 rs71094709 12:69747277-69747278 12:69353497-69353498
24 APOA1 NM_000039.2(APOA1):c.116C>T (p.Ala39Val)SNV Uncertain significance 302509 rs746314593 11:116707801-116707801 11:116837085-116837085
25 APOA1 NM_000039.2(APOA1):c.498C>A (p.Ser166Arg)SNV Uncertain significance 302503 rs757899657 11:116706830-116706830 11:116836114-116836114
26 APOA1 NM_000039.2(APOA1):c.480G>T (p.Glu160Asp)SNV Uncertain significance 302504 rs769548576 11:116706848-116706848 11:116836132-116836132
27 FGA NM_021871.4(FGA):c.614A>G (p.Glu205Gly)SNV Uncertain significance 347819 rs886059152 4:155507967-155507967 4:154586815-154586815
28 FGA NM_021871.4(FGA):c.822C>T (p.Ser274=)SNV Uncertain significance 347815 rs886059150 4:155507759-155507759 4:154586607-154586607
29 FGA NM_021871.4(FGA):c.1823G>C (p.Gly608Ala)SNV Uncertain significance 347808 rs370873387 4:155506758-155506758 4:154585606-154585606
30 APOA1 NM_000039.2(APOA1):c.9T>C (p.Ala3=)SNV Uncertain significance 302511 rs141383703 11:116708095-116708095 11:116837379-116837379
31 APOA1 NM_000039.2(APOA1):c.168G>A (p.Gln56=)SNV Uncertain significance 302508 rs760886281 11:116707749-116707749 11:116837033-116837033
32 FGA NM_021871.4(FGA):c.*50T>GSNV Uncertain significance 347806 rs369606098 4:155506596-155506596 4:154585444-154585444
33 FGA NM_021871.4(FGA):c.244A>C (p.Thr82Pro)SNV Uncertain significance 347822 rs199554805 4:155510065-155510065 4:154588913-154588913
34 FGA NM_021871.4(FGA):c.346G>A (p.Asp116Asn)SNV Uncertain significance 347821 rs886059153 4:155509963-155509963 4:154588811-154588811
35 FGA NM_021871.4(FGA):c.666A>T (p.Pro222=)SNV Uncertain significance 347817 rs886059151 4:155507915-155507915 4:154586763-154586763
36 FGA NM_021871.4(FGA):c.765G>A (p.Pro255=)SNV Uncertain significance 347816 rs779582722 4:155507816-155507816 4:154586664-154586664
37 LYZ NM_000239.2(LYZ):c.86del (p.Thr29fs)deletion Uncertain significance 631690 rs1565669113 12:69742274-69742274 12:69348494-69348494
38 FGA NM_021871.4(FGA):c.1760C>G (p.Thr587Arg)SNV Uncertain significance 693992 rs1309799184 4:155506821-155506821 4:154585669-154585669
39 LYZ NM_000239.2(LYZ):c.*280_*289dupduplication Uncertain significance 310339 rs71094709 12:69747277-69747278 12:69353497-69353498
40 LYZ NM_000239.2(LYZ):c.*442T>GSNV Uncertain significance 310346 rs886049807 12:69747441-69747441 12:69353661-69353661
41 LYZ NM_000239.2(LYZ):c.*331G>ASNV Uncertain significance 310342 rs762377090 12:69747330-69747330 12:69353550-69353550
42 LYZ NM_000239.2(LYZ):c.*440T>ASNV Uncertain significance 310345 rs886049806 12:69747439-69747439 12:69353659-69353659
43 LYZ NM_000239.2(LYZ):c.*221C>TSNV Uncertain significance 310337 rs886049804 12:69747220-69747220 12:69353440-69353440
44 LYZ NM_000239.2(LYZ):c.269G>A (p.Gly90Glu)SNV Uncertain significance 310332 rs141911537 12:69744020-69744020 12:69350240-69350240
45 APOA1 NM_000039.2(APOA1):c.28G>A (p.Val10Met)SNV Uncertain significance 302510 rs750125257 11:116708076-116708076 11:116837360-116837360
46 LYZ NM_000239.2(LYZ):c.*565G>TSNV Uncertain significance 310350 rs886049808 12:69747564-69747564 12:69353784-69353784
47 LYZ NM_000239.2(LYZ):c.*470C>TSNV Uncertain significance 310348 rs554855169 12:69747469-69747469 12:69353689-69353689
48 LYZ NM_000239.2(LYZ):c.*461G>ASNV Likely benign 310347 rs531233279 12:69747460-69747460 12:69353680-69353680
49 LYZ NM_000239.2(LYZ):c.*521G>ASNV Likely benign 310349 rs567541896 12:69747520-69747520 12:69353740-69353740
50 APOA1 NM_000039.2(APOA1):c.*19C>GSNV Likely benign 302500 rs187335584 11:116706505-116706505 11:116835789-116835789

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

73
# 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

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:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.57 TTR SAA1 LYZ IAPP GSN FGA
2
Show member pathways
13.53 TTR SAA1 LYZ IAPP GSN FGA
3
Show member pathways
12.31 TTR APOE APOC3 APOC2 APOA4 APOA2
4
Show member pathways
12.27 APOE APOC3 APOC2 APOA4 APOA2 APOA1
5
Show member pathways
12.11 SAA4 SAA1 APOE APOA1
6 11.84 GSN APOE APOA4 APOA1
7
Show member pathways
11.7 SAA1 APOE APOA1
8 11.55 APOC3 APOA2 APOA1
9
Show member pathways
11.5 APOE APOC3 APOC2 APOA4 APOA2 APOA1
10
Show member pathways
11.5 TTR APOE APOC3 APOC2 APOA4 APOA2
11 11 APOC3 APOA2 APOA1
12 10.78 APOA4 APOA2 APOA1

GO Terms for Amyloidosis, Familial Visceral

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 10.28 TTR SAA4 SAA1 LYZ KRT33B GSN
2 extracellular region GO:0005576 10.19 TTR SAA4 SAA1 LYZ LECT2 IAPP
3 collagen-containing extracellular matrix GO:0062023 10 FGA APOE APOC3 APOA4 APOA1 APCS
4 endoplasmic reticulum lumen GO:0005788 9.97 FGA B2M APOE APOA4 APOA2 APOA1
5 early endosome GO:0005769 9.95 APOE APOC3 APOC2 APOA4 APOA2 APOA1
6 blood microparticle GO:0072562 9.95 GSN FGA APOE APOA4 APOA2 APOA1
7 very-low-density lipoprotein particle GO:0034361 9.8 APOE APOC3 APOC2 APOA4 APOA2 APOA1
8 spherical high-density lipoprotein particle GO:0034366 9.76 APOC3 APOC2 APOA2 APOA1
9 extracellular vesicle GO:1903561 9.73 FGA APOE APOA1
10 endocytic vesicle lumen GO:0071682 9.71 SAA1 APOE APOA1
11 low-density lipoprotein particle GO:0034362 9.69 APOE APOC2 APOA1
12 intermediate-density lipoprotein particle GO:0034363 9.67 APOE APOC3 APOC2 APOA1
13 chylomicron GO:0042627 9.63 APOE APOC3 APOC2 APOA4 APOA2 APOA1
14 discoidal high-density lipoprotein particle GO:0034365 9.55 APOE APOA1
15 extracellular space GO:0005615 9.55 TTR SAA4 SAA1 LYZ LECT2 KRT33B
16 high-density lipoprotein particle GO:0034364 9.5 SAA4 SAA1 APOE APOC2 APOA4 APOA2

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

(show all 50)
# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 10.09 SAA1 MEFV FGA B2M APCS
2 lipid transport GO:0006869 10.03 APOE APOC3 APOC2 APOA4 APOA2 APOA1
3 post-translational protein modification GO:0043687 10.01 FGA APOE APOA2 APOA1
4 cholesterol homeostasis GO:0042632 10 APOE APOC3 APOC2 APOA4 APOA2 APOA1
5 retinoid metabolic process GO:0001523 9.98 TTR APOE APOC3 APOC2 APOA4 APOA2
6 negative regulation of inflammatory response GO:0050728 9.94 SAA1 MEFV APOE APOA1
7 cholesterol metabolic process GO:0008203 9.92 APOE APOA4 APOA2 APOA1
8 lipid catabolic process GO:0016042 9.88 APOC3 APOC2 APOA4
9 triglyceride homeostasis GO:0070328 9.88 APOE APOC3 APOC2 APOA4 APOA1
10 cholesterol efflux GO:0033344 9.88 APOE APOC3 APOC2 APOA4 APOA2 APOA1
11 positive regulation of catalytic activity GO:0043085 9.86 APOE APOC2 APOA2
12 high-density lipoprotein particle assembly GO:0034380 9.85 APOE APOA4 APOA2 APOA1
13 lipoprotein metabolic process GO:0042157 9.85 APOE APOC3 APOA4 APOA2 APOA1
14 reverse cholesterol transport GO:0043691 9.85 APOE APOC3 APOC2 APOA4 APOA2 APOA1
15 high-density lipoprotein particle clearance GO:0034384 9.84 APOE APOC2 APOA2 APOA1
16 acute-phase response GO:0006953 9.82 SAA4 SAA1 APCS
17 triglyceride metabolic process GO:0006641 9.82 APOE APOC3 APOA2
18 very-low-density lipoprotein particle remodeling GO:0034372 9.81 APOE APOC2 APOA4 APOA1
19 positive regulation of cholesterol esterification GO:0010873 9.8 APOE APOA4 APOA2 APOA1
20 high-density lipoprotein particle remodeling GO:0034375 9.8 APOE APOC3 APOC2 APOA4 APOA2 APOA1
21 positive regulation of fatty acid biosynthetic process GO:0045723 9.79 APOC2 APOA4 APOA1
22 positive regulation of lipoprotein lipase activity GO:0051006 9.78 APOC2 APOA4 APOA1
23 chylomicron remnant clearance GO:0034382 9.77 APOE APOC3 APOC2
24 positive regulation of triglyceride catabolic process GO:0010898 9.77 APOC2 APOA4 APOA1
25 regulation of Cdc42 protein signal transduction GO:0032489 9.76 APOE APOC3 APOA1
26 regulation of intestinal cholesterol absorption GO:0030300 9.75 APOA4 APOA2 APOA1
27 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.74 APOC3 APOA2 APOA1
28 phospholipid efflux GO:0033700 9.73 APOE APOC3 APOC2 APOA4 APOA2 APOA1
29 negative regulation of viral entry into host cell GO:0046597 9.7 GSN APCS
30 negative regulation of lipid catabolic process GO:0050995 9.7 APOC3 APOA2
31 positive regulation of cholesterol efflux GO:0010875 9.7 APOE APOA1
32 phosphatidylcholine metabolic process GO:0046470 9.7 APOA4 APOA1
33 low-density lipoprotein particle remodeling GO:0034374 9.69 APOE APOA2
34 amyloid fibril formation GO:1990000 9.68 GSN B2M
35 negative regulation of receptor-mediated endocytosis GO:0048261 9.68 APOC3 APOC2
36 lipoprotein biosynthetic process GO:0042158 9.68 APOE APOA1
37 peptidyl-methionine modification GO:0018206 9.68 APOA2 APOA1
38 negative regulation of cytokine secretion involved in immune response GO:0002740 9.67 APOA2 APOA1
39 negative regulation of amyloid fibril formation GO:1905907 9.67 IAPP APOE
40 protein oxidation GO:0018158 9.67 APOA2 APOA1
41 negative regulation of very-low-density lipoprotein particle clearance GO:0010916 9.66 APOC3 APOC2
42 negative regulation of lipase activity GO:0060192 9.66 APOA2 APOA1
43 negative regulation of lipid metabolic process GO:0045833 9.65 APOC3 APOC2
44 negative regulation of cholesterol transport GO:0032375 9.65 APOC2 APOA2
45 positive regulation of phospholipid efflux GO:1902995 9.63 APOE APOA1
46 triglyceride-rich lipoprotein particle remodeling GO:0034370 9.63 APOC2 APOA2
47 chylomicron assembly GO:0034378 9.63 APOE APOC3 APOC2 APOA4 APOA2 APOA1
48 negative regulation of cholesterol import GO:0060621 9.62 APOC3 APOA2
49 cellular protein metabolic process GO:0044267 9.44 TTR SAA1 LYZ IAPP GSN FGA
50 chylomicron remodeling GO:0034371 9.43 APOE APOC3 APOC2 APOA4 APOA2 APOA1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 10.02 TTR MEFV LYZ LECT2 IAPP B2M
2 lipid binding GO:0008289 9.93 APOE APOC3 APOC2 APOA4 APOA2 APOA1
3 signaling receptor binding GO:0005102 9.91 IAPP FGA APOE APOA2 APOA1
4 phospholipid binding GO:0005543 9.8 APOE APOC3 APOA4 APOA2 APOA1
5 cholesterol binding GO:0015485 9.73 APOC3 APOA4 APOA2 APOA1
6 amyloid-beta binding GO:0001540 9.71 IAPP APOE APOA1
7 lipid transporter activity GO:0005319 9.67 APOE APOA4 APOA2 APOA1
8 phosphatidylcholine binding GO:0031210 9.65 APOA4 APOA2 APOA1
9 high-density lipoprotein particle binding GO:0008035 9.55 APOA2 APOA1
10 lipoprotein particle binding GO:0071813 9.52 APOE APOA1
11 apolipoprotein receptor binding GO:0034190 9.49 APOA2 APOA1
12 intermembrane cholesterol transfer activity GO:0120020 9.46 APOE APOA4 APOA2 APOA1
13 high-density lipoprotein particle receptor binding GO:0070653 9.43 APOC3 APOA2 APOA1
14 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.26 APOE APOA4 APOA2 APOA1
15 lipase inhibitor activity GO:0055102 8.92 APOC3 APOC2 APOA2 APOA1

Sources for Amyloidosis, Familial Visceral

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....