AMYL8
MCID: AMY082
MIFTS: 53

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 70
Ostertag Type Amyloidosis 57 12 20 72
German Type Amyloidosis 57 12 20 72
Hereditary Amyloid Nephropathy 20 58 70
Familial Visceral Amyloidosis 12 72 15
Familial Amyloid Nephropathy 20 58 72
Familial Renal Amyloidosis 20 58 72
Amyloidosis Viii 57 20 72
Hereditary Amyloidosis with Primary Renal Involvement 20 58
Amyloidosis, Systemic Nonneuropathic 57 54
Amyloidosis Familial Visceral 20 6
Amyloidosis, 3 or More Types 57 13
Hereditary Renal Amyloidosis 20 58
Amyloidosis, Familial Renal 57 12
Amyloidosis, Ostertag Type 20 58
Amyloidosis 8 20 72
Hereditary Amyloidosis with Primary Renal Involement 20
Systemic Non-Neuropathic Amyloidosis 72
Systemic Nonneuropathic Amyloidosis 12
Amyloidosis Systemic Nonneuropathic 20
Amyloidosis Familial Renal 20
Amyloid Nephropathy 70
Amyloidosis, Renal 57
Renal Amyloidosis 54
Amyl8 72

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 20-May-2021)
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® 57 105200
MeSH 44 D028226
ICD10 via Orphanet 33 E85.0
Orphanet 58 ORPHA85450
MedGen 41 C0268389
UMLS 70 C0268382 C0268389 C1719313

Summaries for Amyloidosis, Familial Visceral

GARD : 20 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.

MalaCards based summary : Amyloidosis, Familial Visceral, also known as ostertag type amyloidosis, is related to al amyloidosis and familial mediterranean fever. 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 drug Colchicine has been mentioned in the context of this disorder. Affiliated tissues include visceral, heart and kidney, 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 : 72 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.

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 275)
# Related Disease Score Top Affiliating Genes
1 al amyloidosis 32.3 TTR LYZ B2M
2 familial mediterranean fever 29.9 SAA4 SAA1 MEFV
3 hypertriglyceridemia, familial 29.8 APOC3 APOC2 APOA2 APOA1
4 hereditary amyloidosis 29.7 TTR LYZ GSN FGA B2M APOA2
5 polyneuropathy 29.7 TTR GSN APOA2 APOA1 APCS
6 kidney disease 29.6 TTR MEFV B2M APOC3 APOA1
7 amyloidosis aa 29.6 TTR SAA4 SAA1 MEFV B2M APOA1
8 lipid metabolism disorder 29.6 APOC3 APOA2 APOA1
9 amyloidosis, hereditary, transthyretin-related 29.4 TTR IAPP GSN B2M APOA2 APOA1
10 amyloidosis 28.8 TTR SAA4 SAA1 MEFV LYZ LECT2
11 muckle-wells syndrome 11.5
12 aapoaii amyloidosis 11.2
13 afib amyloidosis 11.2
14 aapoai amyloidosis 11.2
15 familial cold autoinflammatory syndrome 1 11.2
16 familial mediterranean fever, autosomal dominant 11.0
17 glomerulonephritis 10.5
18 familial lcat deficiency 10.4 APOA2 APOA1
19 amyloid tumor 10.4 TTR B2M
20 hypoalphalipoproteinemia, primary, 1 10.3 APOA1-AS APOA1
21 hypoalphalipoproteinemia 10.3 APOA2 APOA1
22 leukodystrophy, hypomyelinating, 3 10.3 APOA2 APOA1
23 periarthritis 10.3 MEFV B2M
24 autonomic peripheral neuropathy 10.3 TTR GSN
25 pulmonary tuberculosis 10.3
26 crohn's disease 10.3
27 blepharochalasis 10.3 TTR GSN
28 amyloid neuropathy 10.3 TTR GSN APOA1
29 fish-eye disease 10.3 APOA2 APOA1
30 acute kidney failure 10.2
31 juvenile rheumatoid arthritis 10.2
32 nerve compression syndrome 10.2 TTR B2M APCS
33 hypoalphalipoproteinemia, primary, 2 10.2 APOA1-AS APOA1
34 pediatric multiple sclerosis 10.2 TTR GSN
35 spondyloarthropathy 1 10.2
36 inflammatory spondylopathy 10.2
37 rapidly progressive glomerulonephritis 10.2
38 spondylitis 10.2
39 end stage renal disease 10.2
40 carotenemia 10.2 TTR APOA4 APCS
41 coronary heart disease 1 10.2 APOC3 APOA2 APOA1
42 proteinuria, chronic benign 10.2
43 crescentic glomerulonephritis 10.2
44 asymmetric motor neuropathy 10.2 TTR GSN B2M APOA1
45 hyperalphalipoproteinemia 1 10.2 APOC3 APOA2 APOA1
46 amyloidosis, finnish type 10.2 TTR GSN APCS
47 familial lipoprotein lipase deficiency 10.2 APOC3 APOC2 APOA1
48 hyperlipoproteinemia, type v 10.2 APOC3 APOC2 APOA1
49 bronchiectasis 10.2
50 parametritis 10.2 APOA1 APCS

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 nephrotic syndrome 31 HP:0000100
7 hematuria 31 HP:0000790
8 skin rash 31 HP:0000988
9 cholestasis 31 HP:0001396
10 edema 31 HP:0000969
11 generalized amyloid deposition 31 HP:0003216

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Amyloidosis, Familial Visceral:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.47 APCS APOA1 APOA2 APOA4 APOC2 B2M

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 64-86-8 6167 2833

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Progression of Renal Amyloidosis of FMF and Relation to Serum SAA Level Unknown status NCT01168570

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
Heart, Kidney, Liver, Eye, Skin

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. 6 57
22693999 2012
2
Underdiagnosed amyloidosis: amyloidosis of lysozyme variant. 57 6
15745733 2005
3
Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. 57 6
12050338 2002
4
A frame shift mutation in the fibrinogen A alpha chain gene in a kindred with renal amyloidosis. 57 6
8639778 1996
5
Hereditary renal amyloidosis with a novel variant fibrinogen. 57 6
8113408 1994
6
Human lysozyme gene mutations cause hereditary systemic amyloidosis. 6 57
8464497 1993
7
Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain. 6 57
8097946 1993
8
Familial nephropathic non-neuropathic amyloidosis: clinical features, immunohistochemistry and chemistry. 6 57
1808634 1991
9
Lysozyme amyloidosis: report of 4 cases and a review of the literature. 6 54 61
16523055 2006
10
Antibodies to human serum amyloid P component eliminate visceral amyloid deposits. 57
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? 57
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. 57
3912110 1985
25
Familial renal amyloidosis: case reports and genetic studies. 57
7124780 1982
26
Familial amyloidosis of Ostertag. 57
7111672 1982
27
Studies on the pathogenesis of a familial form of renal amyloidosis. 57
7344220 1981
28
Familial renal amyloidosis. Case reports, literature review and classification. 57
1138543 1975
29
Amyloid nephropathy of Ostertag with special reference to renal glomerular giant cells. 57
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
Familial mediterranean fever: revisiting an ancient disease. 54
12751000 2003
39
Analysis of the modifying effects of SAA1, SAA2 and TNF-alpha gene polymorphisms on development of amyloidosis in FMF patients. 54
14696796 2003
40
Hereditary systemic amyloidosis associated with a new apolipoprotein AII stop codon mutation Stop78Arg. 54
12787390 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 119)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FGA NM_021871.4(FGA):c.1718G>T (p.Arg573Leu) SNV Pathogenic 16408 rs78506343 GRCh37: 4:155506863-155506863
GRCh38: 4:154585711-154585711
2 FGA NM_021871.4(FGA):c.1622del (p.Val541fs) Deletion Pathogenic 16409 rs587777761 GRCh37: 4:155506959-155506959
GRCh38: 4:154585807-154585807
3 FGA NM_021871.4(FGA):c.1634A>T (p.Glu545Val) SNV Pathogenic 16410 rs121909612 GRCh37: 4:155506947-155506947
GRCh38: 4:154585795-154585795
4 FGA NM_021871.4(FGA):c.1629del (p.Thr544fs) Deletion Pathogenic 16413 rs587777762 GRCh37: 4:155506952-155506952
GRCh38: 4:154585800-154585800
5 APOA1-AS , APOA1 NM_001318021.1(APOA1):c.-77T>G SNV Pathogenic 17923 rs121912724 GRCh37: 11:116707077-116707077
GRCh38: 11:116836361-116836361
6 APOA1 APOA1, 12-BP DEL AND 2-BP INS Indel Pathogenic 17927 GRCh37:
GRCh38:
7 APOA1-AS , APOA1 NM_001318021.1(APOA1):c.-108T>C SNV Pathogenic 17928 rs121912726 GRCh37: 11:116707108-116707108
GRCh38: 11:116836392-116836392
8 APOA1 NM_000039.2(APOA1):c.593T>C (p.Leu198Ser) SNV Pathogenic 17933 rs121912729 GRCh37: 11:116706735-116706735
GRCh38: 11:116836019-116836019
9 APOA1 NM_000039.2(APOA1):c.595G>C (p.Ala199Pro) SNV Pathogenic 17934 rs121912730 GRCh37: 11:116706733-116706733
GRCh38: 11:116836017-116836017
10 LYZ NM_000239.2(LYZ):c.244T>A (p.Trp82Arg) SNV Pathogenic 14378 rs387906536 GRCh37: 12:69743995-69743995
GRCh38: 12:69350215-69350215
11 LYZ NM_000239.2(LYZ):c.244T>C (p.Trp82Arg) SNV Pathogenic 14376 rs387906536 GRCh37: 12:69743995-69743995
GRCh38: 12:69350215-69350215
12 B2M NM_004048.3(B2M):c.286G>A (p.Asp96Asn) SNV Pathogenic 31907 rs398122820 GRCh37: 15:45007839-45007839
GRCh38: 15:44715641-44715641
13 B2M NM_004048.4(B2M):c.154_155delinsTT (p.Pro52Leu) Indel Pathogenic 1048547 GRCh37: 15:45007707-45007708
GRCh38: 15:44715509-44715510
14 LYZ NM_000239.2(LYZ):c.223T>A (p.Phe75Ile) SNV Pathogenic 14377 rs121913549 GRCh37: 12:69743974-69743974
GRCh38: 12:69350194-69350194
15 LYZ NM_000239.2(LYZ):c.199G>C (p.Asp67His) SNV Pathogenic 14375 rs387906535 GRCh37: 12:69743950-69743950
GRCh38: 12:69350170-69350170
16 LYZ NM_000239.2(LYZ):c.221T>C (p.Ile74Thr) SNV Pathogenic 14374 rs121913547 GRCh37: 12:69743972-69743972
GRCh38: 12:69350192-69350192
17 LYZ NM_000239.2(LYZ):c.*280_*289dup Duplication Uncertain significance 310339 rs71094709 GRCh37: 12:69747277-69747278
GRCh38: 12:69353497-69353498
18 FGA NM_021871.4(FGA):c.614A>G (p.Glu205Gly) SNV Uncertain significance 347819 rs886059152 GRCh37: 4:155507967-155507967
GRCh38: 4:154586815-154586815
19 LYZ NM_000239.2(LYZ):c.*289_*290insTTTTTTTTTTTTT Insertion Uncertain significance 310340 rs71094709 GRCh37: 12:69747277-69747278
GRCh38: 12:69353497-69353498
20 LYZ NM_000239.3(LYZ):c.*426C>T SNV Uncertain significance 881800 GRCh37: 12:69747425-69747425
GRCh38: 12:69353645-69353645
21 FGA NM_021871.4(FGA):c.923G>A (p.Arg308Gln) SNV Uncertain significance 235573 rs760992799 GRCh37: 4:155507658-155507658
GRCh38: 4:154586506-154586506
22 FGA NM_021871.4(FGA):c.919A>G (p.Asn307Asp) SNV Uncertain significance 347813 rs750564329 GRCh37: 4:155507662-155507662
GRCh38: 4:154586510-154586510
23 FGA NM_021871.4(FGA):c.1025G>A (p.Gly342Glu) SNV Uncertain significance 902153 GRCh37: 4:155507556-155507556
GRCh38: 4:154586404-154586404
24 LYZ NM_000239.3(LYZ):c.*891G>A SNV Uncertain significance 883745 GRCh37: 12:69747890-69747890
GRCh38: 12:69354110-69354110
25 LYZ NM_000239.3(LYZ):c.*866C>T SNV Uncertain significance 883744 GRCh37: 12:69747865-69747865
GRCh38: 12:69354085-69354085
26 LYZ NM_000239.3(LYZ):c.*771A>G SNV Uncertain significance 883743 GRCh37: 12:69747770-69747770
GRCh38: 12:69353990-69353990
27 LYZ NM_000239.3(LYZ):c.*122A>G SNV Uncertain significance 883695 GRCh37: 12:69747121-69747121
GRCh38: 12:69353341-69353341
28 LYZ NM_000239.3(LYZ):c.*608T>C SNV Uncertain significance 882951 GRCh37: 12:69747607-69747607
GRCh38: 12:69353827-69353827
29 LYZ NM_000239.3(LYZ):c.*565G>A SNV Uncertain significance 882950 GRCh37: 12:69747564-69747564
GRCh38: 12:69353784-69353784
30 LYZ NM_000239.3(LYZ):c.*544C>T SNV Uncertain significance 882949 GRCh37: 12:69747543-69747543
GRCh38: 12:69353763-69353763
31 APOA1-AS , APOA1 NM_000039.3(APOA1):c.447G>A (p.Glu149=) SNV Uncertain significance 879222 GRCh37: 11:116706881-116706881
GRCh38: 11:116836165-116836165
32 LYZ NM_000239.3(LYZ):c.*404G>T SNV Uncertain significance 881798 GRCh37: 12:69747403-69747403
GRCh38: 12:69353623-69353623
33 LYZ NM_000239.3(LYZ):c.*309G>A SNV Uncertain significance 881355 GRCh37: 12:69747308-69747308
GRCh38: 12:69353528-69353528
34 LYZ NM_000239.3(LYZ):c.*300C>T SNV Uncertain significance 881354 GRCh37: 12:69747299-69747299
GRCh38: 12:69353519-69353519
35 LYZ NM_000239.3(LYZ):c.*266G>C SNV Uncertain significance 881353 GRCh37: 12:69747265-69747265
GRCh38: 12:69353485-69353485
36 APOA1-AS , APOA1 NM_000039.2(APOA1):c.41C>T (p.Thr14Met) SNV Uncertain significance 632642 rs778560581 GRCh37: 11:116708063-116708063
GRCh38: 11:116837347-116837347
37 APOA1 NM_000039.3(APOA1):c.677C>T (p.Thr226Met) SNV Uncertain significance 878622 GRCh37: 11:116706651-116706651
GRCh38: 11:116835935-116835935
38 APOA1-AS , APOA1 NM_000039.3(APOA1):c.-29G>A SNV Uncertain significance 877657 GRCh37: 11:116708329-116708329
GRCh38: 11:116837613-116837613
39 APOA1 NM_000039.3(APOA1):c.705C>G (p.Leu235=) SNV Uncertain significance 877609 GRCh37: 11:116706623-116706623
GRCh38: 11:116835907-116835907
40 APOA1-AS , APOA1 NM_000039.2(APOA1):c.116C>T (p.Ala39Val) SNV Uncertain significance 302509 rs746314593 GRCh37: 11:116707801-116707801
GRCh38: 11:116837085-116837085
41 APOA1-AS , APOA1 NM_000039.2(APOA1):c.480G>T (p.Glu160Asp) SNV Uncertain significance 302504 rs769548576 GRCh37: 11:116706848-116706848
GRCh38: 11:116836132-116836132
42 APOA1-AS , APOA1 NM_000039.2(APOA1):c.168G>A (p.Gln56=) SNV Uncertain significance 302508 rs760886281 GRCh37: 11:116707749-116707749
GRCh38: 11:116837033-116837033
43 FGA NM_021871.4(FGA):c.1621G>C (p.Val541Leu) SNV Uncertain significance 802095 rs1578795080 GRCh37: 4:155506960-155506960
GRCh38: 4:154585808-154585808
44 FGA NM_021871.4(FGA):c.215G>A (p.Gly72Glu) SNV Uncertain significance 974708 GRCh37: 4:155510094-155510094
GRCh38: 4:154588942-154588942
45 APOA1-AS , APOA1 NM_000039.2(APOA1):c.388_390AAG[1] (p.Lys131del) Microsatellite Uncertain significance 636899 rs532489785 GRCh37: 11:116706935-116706937
GRCh38: 11:116836219-116836221
46 FGA NM_021871.4(FGA):c.1760C>G (p.Thr587Arg) SNV Uncertain significance 693992 rs1309799184 GRCh37: 4:155506821-155506821
GRCh38: 4:154585669-154585669
47 FGA NM_021871.4(FGA):c.1615G>A (p.Glu539Lys) SNV Uncertain significance 932910 rs1190260696 GRCh37: 4:155506966-155506966
GRCh38: 4:154585814-154585814
48 LYZ NM_000239.2(LYZ):c.*470C>T SNV Uncertain significance 310348 rs554855169 GRCh37: 12:69747469-69747469
GRCh38: 12:69353689-69353689
49 LYZ NM_000239.2(LYZ):c.*440T>A SNV Uncertain significance 310345 rs886049806 GRCh37: 12:69747439-69747439
GRCh38: 12:69353659-69353659
50 LYZ NM_000239.2(LYZ):c.*331G>A SNV Uncertain significance 310342 rs762377090 GRCh37: 12:69747330-69747330
GRCh38: 12:69353550-69353550

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

72
# Symbol AA change Variation ID SNP ID
1 APOA1 p.Gly50Arg VAR_000609 rs28931574
2 APOA1 p.Leu84Arg VAR_000610 rs121912724
3 APOA1 p.Leu198Ser VAR_083311
4 B2M p.Asp96Asn VAR_076691 rs398122820
5 FGA p.Glu545Val VAR_010731 rs121909612
6 FGA p.Arg573Leu VAR_010732 rs78506343
7 LYZ p.Ile74Thr VAR_004280 rs121913547
8 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
13.58 TTR SAA1 LYZ IAPP GSN FGA
2
Show member pathways
13.53 TTR SAA1 LYZ IAPP GSN FGA
3
Show member pathways
12.3 APOC3 APOC2 APOA4 APOA2 APOA1
4
Show member pathways
12.24 TTR APOC3 APOC2 APOA4 APOA2 APOA1
5
Show member pathways
12.09 TXNRD3 SAA4 SAA1 APOA1
6 11.77 GSN APOA4 APOA1
7 11.53 APOC3 APOA2 APOA1
8
Show member pathways
11.43 APOC3 APOC2 APOA4 APOA2 APOA1
9
Show member pathways
11.43 TTR APOC3 APOC2 APOA4 APOA2 APOA1
10 10.91 APOC3 APOA2 APOA1
11 10.89 APOA4 APOA1
12 10.71 APOA4 APOA2 APOA1

GO Terms for Amyloidosis, Familial Visceral

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 10.23 TTR SAA4 SAA1 LYZ GSN FGA
2 extracellular space GO:0005615 10.18 TTR LYZ LXN LECT2 IAPP GSN
3 extracellular region GO:0005576 10.03 TTR SAA4 SAA1 LYZ LECT2 IAPP
4 collagen-containing extracellular matrix GO:0062023 9.91 FGA APOC3 APOA4 APOA1 APCS
5 endoplasmic reticulum lumen GO:0005788 9.89 FGA B2M APOA4 APOA2 APOA1
6 early endosome GO:0005769 9.88 APOC3 APOC2 APOA4 APOA2 APOA1
7 blood microparticle GO:0072562 9.88 GSN FGA APOA4 APOA2 APOA1 APCS
8 very-low-density lipoprotein particle GO:0034361 9.65 APOC3 APOC2 APOA4 APOA2 APOA1
9 spherical high-density lipoprotein particle GO:0034366 9.62 APOC3 APOC2 APOA2 APOA1
10 intermediate-density lipoprotein particle GO:0034363 9.61 APOC3 APOC2 APOA1
11 endocytic vesicle lumen GO:0071682 9.54 SAA1 APOA1
12 low-density lipoprotein particle GO:0034362 9.52 APOC2 APOA1
13 chylomicron GO:0042627 9.35 APOC3 APOC2 APOA4 APOA2 APOA1
14 high-density lipoprotein particle GO:0034364 9.1 SAA4 SAA1 APOC2 APOA4 APOA2 APOA1

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

(show all 45)
# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 10.07 SAA1 MEFV FGA B2M APCS
2 lipid transport GO:0006869 9.96 APOC3 APOC2 APOA4 APOA2 APOA1
3 cholesterol homeostasis GO:0042632 9.89 APOC3 APOC2 APOA4 APOA2 APOA1
4 retinoid metabolic process GO:0001523 9.88 TTR APOC3 APOC2 APOA4 APOA2 APOA1
5 negative regulation of inflammatory response GO:0050728 9.87 SAA1 MEFV APOA1
6 lipid catabolic process GO:0016042 9.87 APOC3 APOC2 APOA4
7 cholesterol metabolic process GO:0008203 9.85 APOA4 APOA2 APOA1
8 cholesterol efflux GO:0033344 9.83 APOC3 APOC2 APOA4 APOA2 APOA1
9 intermembrane lipid transfer GO:0120009 9.81 APOA4 APOA2 APOA1
10 triglyceride homeostasis GO:0070328 9.81 APOC3 APOC2 APOA4 APOA1
11 acute-phase response GO:0006953 9.79 SAA4 SAA1 APCS
12 positive regulation of fatty acid biosynthetic process GO:0045723 9.77 APOC2 APOA4 APOA1
13 reverse cholesterol transport GO:0043691 9.77 APOC3 APOC2 APOA4 APOA2 APOA1
14 high-density lipoprotein particle assembly GO:0034380 9.76 APOA4 APOA2 APOA1
15 lipoprotein metabolic process GO:0042157 9.76 APOC3 APOA4 APOA2 APOA1
16 positive regulation of lipoprotein lipase activity GO:0051006 9.75 APOC2 APOA4 APOA1
17 high-density lipoprotein particle clearance GO:0034384 9.74 APOC2 APOA2 APOA1
18 very-low-density lipoprotein particle remodeling GO:0034372 9.72 APOC2 APOA4 APOA1
19 high-density lipoprotein particle remodeling GO:0034375 9.72 APOC3 APOC2 APOA4 APOA2 APOA1
20 positive regulation of triglyceride catabolic process GO:0010898 9.71 APOC2 APOA4 APOA1
21 cholesterol transport GO:0030301 9.7 APOA2 APOA1
22 positive regulation of cholesterol esterification GO:0010873 9.7 APOA4 APOA2 APOA1
23 negative regulation of viral entry into host cell GO:0046597 9.69 GSN APCS
24 phosphatidylcholine metabolic process GO:0046470 9.68 APOA4 APOA1
25 negative regulation of lipid catabolic process GO:0050995 9.68 APOC3 APOA2
26 positive regulation of lipid biosynthetic process GO:0046889 9.68 APOA4 APOA1
27 amyloid fibril formation GO:1990000 9.67 GSN B2M
28 negative regulation of receptor-mediated endocytosis GO:0048261 9.67 APOC3 APOC2
29 chylomicron remnant clearance GO:0034382 9.66 APOC3 APOC2
30 regulation of Cdc42 protein signal transduction GO:0032489 9.66 APOC3 APOA1
31 peptidyl-methionine modification GO:0018206 9.65 APOA2 APOA1
32 negative regulation of cytokine production involved in immune response GO:0002719 9.65 APOA2 APOA1
33 negative regulation of lipid metabolic process GO:0045833 9.65 APOC3 APOC2
34 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.65 APOC3 APOA2 APOA1
35 phospholipid efflux GO:0033700 9.65 APOC3 APOC2 APOA4 APOA2 APOA1
36 protein oxidation GO:0018158 9.64 APOA2 APOA1
37 negative regulation of lipase activity GO:0060192 9.63 APOA2 APOA1
38 negative regulation of cholesterol transport GO:0032375 9.63 APOC2 APOA2
39 regulation of intestinal cholesterol absorption GO:0030300 9.62 APOA4 APOA1
40 negative regulation of very-low-density lipoprotein particle clearance GO:0010916 9.62 APOC3 APOC2
41 triglyceride-rich lipoprotein particle remodeling GO:0034370 9.61 APOC2 APOA2
42 negative regulation of cholesterol import GO:0060621 9.6 APOC3 APOA2
43 chylomicron assembly GO:0034378 9.55 APOC3 APOC2 APOA4 APOA2 APOA1
44 cellular protein metabolic process GO:0044267 9.36 TTR SAA1 LYZ IAPP GSN FGA
45 chylomicron remodeling GO:0034371 9.35 APOC3 APOC2 APOA4 APOA2 APOA1

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

(show all 12)
# 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 9.89 APOC3 APOC2 APOA4 APOA2 APOA1
3 phospholipid binding GO:0005543 9.73 APOC3 APOA4 APOA2 APOA1
4 phosphatidylcholine binding GO:0031210 9.63 APOA4 APOA2 APOA1
5 lipid transporter activity GO:0005319 9.58 APOA4 APOA2 APOA1
6 cholesterol binding GO:0015485 9.56 APOC3 APOA4 APOA2 APOA1
7 high-density lipoprotein particle binding GO:0008035 9.51 APOA2 APOA1
8 intermembrane cholesterol transfer activity GO:0120020 9.5 APOA4 APOA2 APOA1
9 apolipoprotein receptor binding GO:0034190 9.48 APOA2 APOA1
10 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.33 APOA4 APOA2 APOA1
11 high-density lipoprotein particle receptor binding GO:0070653 9.13 APOC3 APOA2 APOA1
12 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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