AMYL8
MCID: AMY082
MIFTS: 55

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 57 72
Ostertag Type Amyloidosis 57 12 53 74
German Type Amyloidosis 57 12 53 74
Hereditary Amyloid Nephropathy 53 59 72
Familial Visceral Amyloidosis 12 74 15
Familial Amyloid Nephropathy 53 59 74
Familial Renal Amyloidosis 53 59 74
Amyloidosis Viii 57 53 74
Hereditary Amyloidosis with Primary Renal Involvement 53 59
Amyloidosis, Systemic Nonneuropathic 57 55
Amyloidosis, 3 or More Types 57 13
Hereditary Renal Amyloidosis 53 59
Amyloidosis, Familial Renal 57 12
Amyloidosis, Ostertag Type 53 59
Amyloidosis 8 53 74
Hereditary Amyloidosis with Primary Renal Involement 53
Systemic Non-Neuropathic Amyloidosis 74
Systemic Nonneuropathic Amyloidosis 12
Amyloidosis Systemic Nonneuropathic 53
Amyloidosis Familial Visceral 53
Amyloidosis Familial Renal 53
Amyloid Nephropathy 72
Amyloidosis, Renal 57
Renal Amyloidosis 55
Amyl8 74

Characteristics:

Orphanet epidemiological data:

59
hereditary amyloidosis with primary renal involvement
Inheritance: Autosomal dominant; Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
amyloidosis, familial visceral:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0050636
OMIM 57 105200
MeSH 44 D028226
ICD10 via Orphanet 34 E85.0
Orphanet 59 ORPHA85450
MedGen 42 C0268389
UMLS 72 C0268382 C0268389 C1719313

Summaries for Amyloidosis, Familial Visceral

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 85450DefinitionA 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 periodic fever, familial, autosomal dominant. 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. 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 : 74 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 : 75 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 270)
# Related Disease Score Top Affiliating Genes
1 al amyloidosis 30.5 TTR LYZ B2M
2 periodic fever, familial, autosomal dominant 30.0 MEFV LYZ
3 amyloidosis, hereditary, transthyretin-related 29.6 TTR GSN APOA1
4 polyneuropathy 29.6 TTR GSN APOA1
5 hypertriglyceridemia, familial 29.6 APOC2 APOA1
6 familial mediterranean fever 28.9 SAA2 SAA1 MEFV
7 amyloidosis aa 28.4 TTR SAA2 SAA1 MEFV B2M APOA1
8 hereditary amyloidosis 27.9 TTR LYZ GSN FGA B2M APOA2
9 amyloidosis 26.6 TTR SAA2 SAA1 MEFV LYZ GSN
10 familial cold autoinflammatory syndrome 1 11.7
11 muckle-wells syndrome 11.7
12 aapoaii amyloidosis 11.4
13 afib amyloidosis 11.4
14 aapoai amyloidosis 11.4
15 familial mediterranean fever, autosomal dominant 11.2
16 diffuse glomerulonephritis 10.5 LYZ B2M
17 familial lcat deficiency 10.5 APOA2 APOA1
18 tarsal tunnel syndrome 10.5 TTR B2M
19 tibial neuropathy 10.5 TTR B2M
20 median rhomboid glossitis 10.5 TTR B2M
21 fish-eye disease 10.4 APOA2 APOA1
22 oculogyric crisis 10.4 FGA B2M
23 leukodystrophy, hypomyelinating, 3 10.4 APOA2 APOA1
24 amyloid tumor 10.4 TTR B2M
25 nerve compression syndrome 10.4 TTR B2M
26 pyelitis 10.4 LYZ B2M
27 renal tuberculosis 10.4 LYZ B2M
28 erysipeloid 10.4 MEFV LYZ
29 hypolipoproteinemia 10.3 APOA2 APOA1
30 rheumatoid arthritis 10.3
31 crohn's disease 10.3
32 pulmonary tuberculosis 10.2
33 amyloidosis, finnish type 10.2 TTR GSN
34 angina pectoris 10.2 FGA APOA2
35 arcus corneae 10.2 APOA2 APOA1
36 myeloma, multiple 10.2
37 acute kidney failure 10.2
38 juvenile rheumatoid arthritis 10.2
39 retinitis pigmentosa 7 10.2 TTR LYZ B2M
40 pediatric multiple sclerosis 10.2 TTR GSN
41 spondyloarthropathy 1 10.2
42 inflammatory spondylopathy 10.2
43 rapidly progressive glomerulonephritis 10.2
44 spondylitis 10.2
45 hyperlipoproteinemia, type v 10.2 APOC2 APOA1
46 crescentic glomerulonephritis 10.2
47 mycobacterium tuberculosis 1 10.1
48 testicular yolk sac tumor 10.1 TTR APOA1
49 autosomal recessive disease 10.1
50 chronic kidney disease 10.1

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:

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

Symptoms via clinical synopsis from OMIM:

57
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

MGI Mouse Phenotypes related to Amyloidosis, Familial Visceral:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.9 APOA1 APOA2 APOC2 B2M FGA GSN
2 integument MP:0010771 9.43 APOA1 B2M FGA GSN LYZ MEFV
3 liver/biliary system MP:0005370 9.1 APOA1 B2M FGA LECT2 LYZ MEFV

Drugs & Therapeutics for Amyloidosis, Familial Visceral

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

(show all 6)
# 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 Tubulin Modulators Phase 2
4 Anti-Inflammatory Agents Phase 2
5 Antimitotic Agents Phase 2
6 Antirheumatic 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:

41
Kidney, Skin, Bone, Liver

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. 8 71
22693999 2012
2
Underdiagnosed amyloidosis: amyloidosis of lysozyme variant. 8 71
15745733 2005
3
Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. 8 71
12050338 2002
4
A frame shift mutation in the fibrinogen A alpha chain gene in a kindred with renal amyloidosis. 8 71
8639778 1996
5
Hereditary renal amyloidosis with a novel variant fibrinogen. 8 71
8113408 1994
6
Human lysozyme gene mutations cause hereditary systemic amyloidosis. 8 71
8464497 1993
7
Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain. 8 71
8097946 1993
8
Familial nephropathic non-neuropathic amyloidosis: clinical features, immunohistochemistry and chemistry. 8 71
1808634 1991
9
Lysozyme amyloidosis: report of 4 cases and a review of the literature. 9 38 71
16523055 2006
10
Antibodies to human serum amyloid P component eliminate visceral amyloid deposits. 8
20962779 2010
11
Cardiac amyloidosis with the E526V mutation of the fibrinogen A alpha-chain. 71
19109585 2008
12
A novel lysozyme mutation Phe57Ile associated with hereditary renal amyloidosis. 71
12675840 2003
13
A family with gastrointestinal amyloidosis associated with variant lysozyme. 71
12360495 2002
14
Glaucoma in primary amyloidosis: a fortuitous or causative association? 8
12208391 2002
15
Hereditary renal amyloidosis caused by a new variant lysozyme W64R in a French family. 71
11849445 2002
16
Hereditary renal amyloidosis associated with variant lysozyme in a large English family. 71
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. 71
10487826 1999
18
A novel apolipoprotein A-1 variant, Arg173Pro, associated with cardiac and cutaneous amyloidosis. 71
10198255 1999
19
Renal amyloidosis with a frame shift mutation in fibrinogen aalpha-chain gene producing a novel amyloid protein. 71
9389696 1997
20
The molecular basis of renal amyloidosis in Irish-American and Polish-Canadian kindreds. 71
8944230 1996
21
Hereditary hepatic and systemic amyloidosis caused by a new deletion/insertion mutation in the apolipoprotein AI gene. 71
8675681 1996
22
'Fragile' liver and massive hepatic haemorrhage due to hereditary amyloidosis. 71
8566845 1996
23
Apolipoprotein AI mutation Arg-60 causes autosomal dominant amyloidosis. 71
1502149 1992
24
The United Kingdom Medical Research Council's glomerulonephritis registry. 8
3912110 1985
25
Familial renal amyloidosis: case reports and genetic studies. 8
7124780 1982
26
Familial amyloidosis of Ostertag. 8
7111672 1982
27
Studies on the pathogenesis of a familial form of renal amyloidosis. 8
7344220 1981
28
Familial renal amyloidosis. Case reports, literature review and classification. 8
1138543 1975
29
Amyloid nephropathy of Ostertag with special reference to renal glomerular giant cells. 8
4728894 1973
30
Inherited predisposition to generalized amyloidosis. Clinical and pathological study of a family with neuropathy, nephropathy, and peptic ulcer. 71
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. 38
26017329 2015
32
Transthyretin amyloid goiter in a renal allograft recipient. 9
18369743 2008
33
Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever. 9
17469185 2007
34
Genetic risk factors of amyloidogenesis in familial Mediterranean fever. 9
16118480 2005
35
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus. 9
16121806 2005
36
Molecular study of FMF patients in Armenia. 9
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. 9
15170927 2004
38
Hereditary systemic amyloidosis associated with a new apolipoprotein AII stop codon mutation Stop78Arg. 9
12787390 2003
39
Familial mediterranean fever: revisiting an ancient disease. 9
12751000 2003
40
Analysis of the modifying effects of SAA1, SAA2 and TNF-alpha gene polymorphisms on development of amyloidosis in FMF patients. 9
14696796 2003
41
MEFV gene mutations in familial Mediterranean fever phenotype II patients with renal amyloidosis in childhood: a retrospective clinicopathological and molecular study. 9
12401847 2002
42
Renal amyloidosis caused by a novel stop-codon mutation in the apolipoprotein A-II gene. 9
11703582 2001
43
A new human hereditary amyloidosis: the result of a stop-codon mutation in the apolipoprotein AII gene. 9
11401442 2001
44
Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever. 9
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. 9
10364520 1999
46
Familial amyloid polyneuropathy type I (Portuguese): distribution and characterization of renal amyloid deposits. 9
9631837 1998

Variations for Amyloidosis, Familial Visceral

ClinVar genetic disease variations for Amyloidosis, Familial Visceral:

6 (show top 50) (show all 75)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FGA NM_000508.5(FGA): c.1718G> T (p.Arg573Leu) single nucleotide variant Pathogenic rs78506343 4:155506863-155506863 4:154585711-154585711
2 FGA NM_000508.5(FGA): c.1622del (p.Val541fs) deletion Pathogenic rs587777761 4:155506959-155506959 4:154585807-154585807
3 FGA NM_000508.5(FGA): c.1634A> T (p.Glu545Val) single nucleotide variant Pathogenic rs121909612 4:155506947-155506947 4:154585795-154585795
4 FGA NM_000508.5(FGA): c.1629del (p.Thr544fs) deletion Pathogenic rs587777762 4:155506952-155506952 4:154585800-154585800
5 B2M NM_004048.3(B2M): c.286G> A (p.Asp96Asn) single nucleotide variant Pathogenic rs398122820 15:45007839-45007839 15:44715641-44715641
6 APOA1 NM_000039.2(APOA1): c.595G> C (p.Ala199Pro) single nucleotide variant Pathogenic rs121912730 11:116706733-116706733 11:116836017-116836017
7 APOA1 NM_000039.2(APOA1): c.593T> C (p.Leu198Ser) single nucleotide variant Pathogenic rs121912729 11:116706735-116706735 11:116836019-116836019
8 APOA1 NM_000039.2(APOA1): c.220T> C (p.Trp74Arg) single nucleotide variant Pathogenic rs121912726 11:116707108-116707108 11:116836392-116836392
9 APOA1 APOA1, 12-BP DEL AND 2-BP INS indel Pathogenic
10 APOA1 NM_000039.2(APOA1): c.251T> G (p.Leu84Arg) single nucleotide variant Pathogenic rs121912724 11:116707077-116707077 11:116836361-116836361
11 LYZ NM_000239.2(LYZ): c.244T> A (p.Trp82Arg) single nucleotide variant Pathogenic rs387906536 12:69743995-69743995 12:69350215-69350215
12 LYZ NM_000239.2(LYZ): c.223T> A (p.Phe75Ile) single nucleotide variant Pathogenic rs121913549 12:69743974-69743974 12:69350194-69350194
13 LYZ NM_000239.2(LYZ): c.244T> C (p.Trp82Arg) single nucleotide variant Pathogenic rs387906536 12:69743995-69743995 12:69350215-69350215
14 LYZ NM_000239.2(LYZ): c.199G> C (p.Asp67His) single nucleotide variant Pathogenic rs387906535 12:69743950-69743950 12:69350170-69350170
15 LYZ NM_000239.2(LYZ): c.221T> C (p.Ile74Thr) single nucleotide variant Pathogenic rs121913547 12:69743972-69743972 12:69350192-69350192
16 FGA NM_000508.5(FGA): c.450G> A (p.Gln150=) single nucleotide variant Uncertain significance rs368446857 4:155508724-155508724 4:154587572-154587572
17 FGA NM_000508.5(FGA): c.616C> G (p.Gln206Glu) single nucleotide variant Uncertain significance rs560732073 4:155507965-155507965 4:154586813-154586813
18 APOA1 NM_000039.2(APOA1): c.116C> T (p.Ala39Val) single nucleotide variant Uncertain significance rs746314593 11:116707801-116707801 11:116837085-116837085
19 APOA1 NM_000039.2(APOA1): c.498C> A (p.Ser166Arg) single nucleotide variant Uncertain significance rs757899657 11:116706830-116706830 11:116836114-116836114
20 APOA1 NM_000039.2(APOA1): c.9T> C (p.Ala3=) single nucleotide variant Uncertain significance rs141383703 11:116708095-116708095 11:116837379-116837379
21 APOA1 NM_000039.2(APOA1): c.168G> A (p.Gln56=) single nucleotide variant Uncertain significance rs760886281 11:116707749-116707749 11:116837033-116837033
22 APOA1 NM_000039.2(APOA1): c.480G> T (p.Glu160Asp) single nucleotide variant Uncertain significance rs769548576 11:116706848-116706848 11:116836132-116836132
23 FGA NM_000508.5(FGA): c.614A> G (p.Glu205Gly) single nucleotide variant Uncertain significance rs886059152 4:155507967-155507967 4:154586815-154586815
24 FGA NM_000508.5(FGA): c.822C> T (p.Ser274=) single nucleotide variant Uncertain significance rs886059150 4:155507759-155507759 4:154586607-154586607
25 FGA NM_000508.5(FGA): c.1823G> C (p.Gly608Ala) single nucleotide variant Uncertain significance rs370873387 4:155506758-155506758 4:154585606-154585606
26 FGA NM_000508.5(FGA): c.244A> C (p.Thr82Pro) single nucleotide variant Uncertain significance rs199554805 4:155510065-155510065 4:154588913-154588913
27 FGA NM_000508.5(FGA): c.346G> A (p.Asp116Asn) single nucleotide variant Uncertain significance rs886059153 4:155509963-155509963 4:154588811-154588811
28 FGA NM_000508.5(FGA): c.666A> T (p.Pro222=) single nucleotide variant Uncertain significance rs886059151 4:155507915-155507915 4:154586763-154586763
29 FGA NM_000508.5(FGA): c.765G> A (p.Pro255=) single nucleotide variant Uncertain significance rs779582722 4:155507816-155507816 4:154586664-154586664
30 FGA NM_000508.5(FGA): c.1891+94T> G single nucleotide variant Uncertain significance rs369606098 4:155506596-155506596 4:154585444-154585444
31 FGA NM_000508.5(FGA): c.919A> G (p.Asn307Asp) single nucleotide variant Uncertain significance rs750564329 4:155507662-155507662 4:154586510-154586510
32 FGA NM_000508.5(FGA): c.1417G> A (p.Asp473Asn) single nucleotide variant Uncertain significance rs200378626 4:155507164-155507164 4:154586012-154586012
33 LYZ NM_000239.2(LYZ): c.86del (p.Thr29fs) deletion Uncertain significance 12:69742273-69742274 12:69348494-69348494
34 LYZ NM_000239.2(LYZ): c.*814C> A single nucleotide variant Uncertain significance rs886049810 12:69747813-69747813 12:69354033-69354033
35 LYZ NM_000239.2(LYZ): c.*330C> T single nucleotide variant Uncertain significance rs886049805 12:69747329-69747329 12:69353549-69353549
36 LYZ NM_000239.2(LYZ): c.*280_*289dup duplication Uncertain significance rs71094709 12:69747279-69747288 12:69353499-69353508
37 LYZ NM_000239.2(LYZ): c.*442T> G single nucleotide variant Uncertain significance rs886049807 12:69747441-69747441 12:69353661-69353661
38 LYZ NM_000239.2(LYZ): c.*331G> A single nucleotide variant Uncertain significance rs762377090 12:69747330-69747330 12:69353550-69353550
39 LYZ NM_000239.2(LYZ): c.*440T> A single nucleotide variant Uncertain significance rs886049806 12:69747439-69747439 12:69353659-69353659
40 LYZ NM_000239.2(LYZ): c.*221C> T single nucleotide variant Uncertain significance rs886049804 12:69747220-69747220 12:69353440-69353440
41 LYZ NM_000239.2(LYZ): c.269G> A (p.Gly90Glu) single nucleotide variant Uncertain significance rs141911537 12:69744020-69744020 12:69350240-69350240
42 APOA1 NM_000039.2(APOA1): c.28G> A (p.Val10Met) single nucleotide variant Uncertain significance rs750125257 11:116708076-116708076 11:116837360-116837360
43 LYZ NM_000239.2(LYZ): c.*565G> T single nucleotide variant Uncertain significance rs886049808 12:69747564-69747564 12:69353784-69353784
44 LYZ NM_000239.2(LYZ): c.*470C> T single nucleotide variant Uncertain significance rs554855169 12:69747469-69747469 12:69353689-69353689
45 LYZ NM_000239.2(LYZ): c.*289_*290insTTTTTTTTTTTTT insertion Uncertain significance rs71094709 12:69747288-69747289 12:69353508-69353509
46 LYZ NM_000239.2(LYZ): c.*242C> A single nucleotide variant Likely benign rs576522577 12:69747241-69747241 12:69353461-69353461
47 LYZ NM_000239.2(LYZ): c.*191A> G single nucleotide variant Likely benign rs183375295 12:69747190-69747190 12:69353410-69353410
48 LYZ NM_000239.2(LYZ): c.*461G> A single nucleotide variant Likely benign rs531233279 12:69747460-69747460 12:69353680-69353680
49 LYZ NM_000239.2(LYZ): c.*521G> A single nucleotide variant Likely benign rs567541896 12:69747520-69747520 12:69353740-69353740
50 LYZ NM_000239.2(LYZ): c.156G> A (p.Trp52Ter) single nucleotide variant Likely benign rs764263034 12:69743907-69743907 12:69350127-69350127

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

74
# 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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.34 TTR SAA1 LYZ GSN FGA B2M
2
Show member pathways
13.28 TTR SAA1 LYZ GSN FGA B2M
3
Show member pathways
12.06 TTR APOC2 APOA2 APOA1
4
Show member pathways
11.94 SAA2 SAA1 APOA1
5
Show member pathways
11.25 TTR APOC2 APOA2 APOA1
6
Show member pathways
11.2 APOC2 APOA2 APOA1
7 11.1 TTR APOA1
8 10.82 APOA2 APOA1
9 10.54 APOA2 APOA1

GO Terms for Amyloidosis, Familial Visceral

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.97 TTR SAA2 SAA1 LYZ GSN FGA
2 extracellular region GO:0005576 9.85 TTR SAA1 LYZ LECT2 GSN FGA
3 endoplasmic reticulum lumen GO:0005788 9.78 FGA B2M APOA2 APOA1
4 blood microparticle GO:0072562 9.73 GSN FGA APOA2 APOA1
5 early endosome GO:0005769 9.7 APOC2 APOA2 APOA1
6 extracellular space GO:0005615 9.7 TTR SAA2 SAA1 LYZ LECT2 GSN
7 very-low-density lipoprotein particle GO:0034361 9.58 APOC2 APOA2 APOA1
8 chylomicron GO:0042627 9.54 APOC2 APOA2 APOA1
9 endocytic vesicle lumen GO:0071682 9.51 SAA1 APOA1
10 low-density lipoprotein particle GO:0034362 9.49 APOC2 APOA1
11 intermediate-density lipoprotein particle GO:0034363 9.46 APOC2 APOA1
12 spherical high-density lipoprotein particle GO:0034366 9.43 APOC2 APOA2 APOA1
13 high-density lipoprotein particle GO:0034364 9.02 SAA2 SAA1 APOC2 APOA2 APOA1

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

(show all 35)
# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.94 SAA1 MEFV FGA B2M
2 neutrophil degranulation GO:0043312 9.92 TTR LYZ GSN B2M
3 response to drug GO:0042493 9.9 B2M APOC2 APOA2 APOA1
4 lipid transport GO:0006869 9.79 APOC2 APOA2 APOA1
5 negative regulation of inflammatory response GO:0050728 9.78 SAA1 MEFV APOA1
6 cholesterol homeostasis GO:0042632 9.77 APOC2 APOA2 APOA1
7 positive chemotaxis GO:0050918 9.67 SAA2 SAA1
8 animal organ regeneration GO:0031100 9.66 APOA2 APOA1
9 retina homeostasis GO:0001895 9.66 LYZ B2M
10 acute-phase response GO:0006953 9.65 SAA2 SAA1
11 positive regulation of substrate adhesion-dependent cell spreading GO:1900026 9.65 FGA APOA1
12 triglyceride homeostasis GO:0070328 9.65 APOC2 APOA1
13 phosphatidylcholine biosynthetic process GO:0006656 9.64 APOA2 APOA1
14 cholesterol transport GO:0030301 9.63 APOA2 APOA1
15 lipoprotein metabolic process GO:0042157 9.63 APOA2 APOA1
16 cholesterol efflux GO:0033344 9.63 APOC2 APOA2 APOA1
17 high-density lipoprotein particle assembly GO:0034380 9.61 APOA2 APOA1
18 reverse cholesterol transport GO:0043691 9.61 APOC2 APOA2 APOA1
19 very-low-density lipoprotein particle remodeling GO:0034372 9.58 APOC2 APOA1
20 positive regulation of cholesterol esterification GO:0010873 9.58 APOA2 APOA1
21 high-density lipoprotein particle remodeling GO:0034375 9.58 APOC2 APOA2 APOA1
22 peptidyl-methionine modification GO:0018206 9.57 APOA2 APOA1
23 negative regulation of cytokine secretion involved in immune response GO:0002740 9.56 APOA2 APOA1
24 regulation of intestinal cholesterol absorption GO:0030300 9.55 APOA2 APOA1
25 protein oxidation GO:0018158 9.54 APOA2 APOA1
26 phospholipid efflux GO:0033700 9.54 APOC2 APOA2 APOA1
27 negative regulation of lipase activity GO:0060192 9.52 APOA2 APOA1
28 negative regulation of cholesterol transport GO:0032375 9.51 APOC2 APOA2
29 high-density lipoprotein particle clearance GO:0034384 9.5 APOC2 APOA2 APOA1
30 triglyceride-rich lipoprotein particle remodeling GO:0034370 9.49 APOC2 APOA2
31 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.48 APOA2 APOA1
32 retinoid metabolic process GO:0001523 9.46 TTR APOC2 APOA2 APOA1
33 chylomicron assembly GO:0034378 9.43 APOC2 APOA2 APOA1
34 cellular protein metabolic process GO:0044267 9.23 TTR SAA1 LYZ GSN FGA B2M
35 chylomicron remodeling GO:0034371 9.13 APOC2 APOA2 APOA1

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 9.8 TTR MEFV LYZ LECT2 B2M APOA1
2 cholesterol binding GO:0015485 9.48 APOA2 APOA1
3 chemoattractant activity GO:0042056 9.46 SAA2 SAA1
4 lipid transporter activity GO:0005319 9.43 APOA2 APOA1
5 cholesterol transporter activity GO:0017127 9.4 APOA2 APOA1
6 high-density lipoprotein particle binding GO:0008035 9.37 APOA2 APOA1
7 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.26 APOA2 APOA1
8 high-density lipoprotein particle receptor binding GO:0070653 9.16 APOA2 APOA1
9 apolipoprotein receptor binding GO:0034190 8.96 APOA2 APOA1
10 lipase inhibitor activity GO:0055102 8.8 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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