MCID: AMY082
MIFTS: 40

Amyloidosis, Familial Visceral malady

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

Aliases & Classifications for Amyloidosis, Familial Visceral

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Aliases & Descriptions for Amyloidosis, Familial Visceral:

Name: Amyloidosis, Familial Visceral 49 65
Familial Visceral Amyloidosis 10 12 67
Ostertag Type Amyloidosis 10 45 67
German Type Amyloidosis 10 45 67
Amyloidosis, 3 or More Types 49 11
Amyloidosis Viii 45 67
Amyloidosis 8 45 67
Amyloidosis, Systemic Nonneuropathic 47
Systemic Non-Neuropathic Amyloidosis 67
Systemic Nonneuropathic Amyloidosis 10
 
Amyloidosis Systemic Nonneuropathic 45
Amyloidosis Familial Visceral 45
Familial Amyloid Nephropathy 67
Amyloidosis, Familial Renal 10
Amyloidosis Familial Renal 45
Familial Renal Amyloidosis 67
Amyloid Nephropathy 65
Amyloidosis, Renal 49
Renal Amyloidosis 47
Amyl8 67

Characteristics:

HPO:

61
amyloidosis, familial visceral:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 105200
Disease Ontology10 DOID:0050636
MedGen34 C0268389
MeSH36 D028226
UMLS65 C0268389, C0268382

Summaries for Amyloidosis, Familial Visceral

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UniProtKB/Swiss-Prot:67 Amyloidosis 8: A hereditary generalized amyloidosis due to deposition of apolipoprotein A1, fibrinogen and lysozyme amyloids. Viscera are particularly affected. There is no involvement of the nervous system. Clinical features include renal amyloidosis resulting in nephrotic syndrome, arterial hypertension, hepatosplenomegaly, cholestasis, petechial skin rash.

MalaCards based summary: Amyloidosis, Familial Visceral, also known as familial visceral amyloidosis, is related to apoa1-related familial visceral amyloidosis and fga-related familial visceral amyloidosis, and has symptoms including generalized amyloid deposition, hepatomegaly and splenomegaly. An important gene associated with Amyloidosis, Familial Visceral is APOA1 (Apolipoprotein A1), and among its related pathways are Cholesterol and Sphingolipids transport / Recycling to plasma membrane in lung (normal and CF) and Advanced glycosylation endproduct receptor signaling. Affiliated tissues include skin, and related mouse phenotypes are liver/biliary system and integument.

Description from OMIM:49 105200

Related Diseases for Amyloidosis, Familial Visceral

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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 top 50)    (show all 63)
idRelated DiseaseScoreTop Affiliating Genes
1apoa1-related familial visceral amyloidosis12.5
2fga-related familial visceral amyloidosis12.5
3lyz-related familial visceral amyloidosis12.5
4muckle-wells syndrome11.6
5hereditary amyloidosis with primary renal involement11.5
6al amyloidosis11.5
7aapoaii amyloidosis11.5
8aapoai amyloidosis11.5
9pestis minor10.5LYZ, MEFV
10spinocerebellar ataxia 410.5APOA1, APOA2
11toxic shock syndrome10.5B2M, TTR
12macular keratitis10.4B2M, TTR
13rhinoscleroma10.4LYZ, MEFV
14common peroneal nerve lesion10.4B2M, TTR
15acute allergic mucoid otitis media10.4B2M, LYZ
16chest wall lymphoma10.4B2M, TTR
17oromandibular dystonia10.4B2M, FGA
18lethal congenital contracture syndrome 110.4GSN, TTR
19subacute glomerulonephritis10.4B2M, LYZ
20neonatal intrahepatic cholestasis due to citrin deficiency10.4MEFV, TNFRSF1A
21non-immunoglobulin-mediated membranoproliferative glomerulonephritis10.4MEFV, TNFRSF1A
22multiple sclerosis 510.3MEFV, TNFRSF1A
23portal hypertension10.3B2M, LYZ
24multiple epiphyseal dysplasia10.3APOA1, LPA
25familial cold-induced inflammatory syndrome 110.3MEFV, TNFRSF1A
26porokeratosis 3, disseminated superficial actinic10.3SAA1, TNFRSF1A
27amyloidosis aa10.3APOA1, GSN, TTR
28carpal tunnel syndrome, familial10.3APOA1, GSN, TTR
29salpingitis isthmica nodosa10.3B2M, GSN, TTR
30alopecia-mental retardation syndrome 310.2B2M, GSN, TTR
31bird fancier's lung10.2APOA1, GSN, TTR
32brucella canis brucellosis10.2APCS, SAA1
33organic acidemia10.2APOA1, IAPP, TTR
34septicemic plague10.2GSN, SAA1, TTR
35precursor b lymphoblastic lymphoma/leukemia10.2B2M, TNFRSF1A
36sick sinus syndrome10.2APOA1, APOA2, LPA
37scleral disease10.2APOA1, APOA2, LPA
38apolipoprotein c-iii deficiency10.2APOA1, APOA2, LPA
39familial mediterranean fever, ad10.2MEFV, SAA1, TNFRSF1A
40immunodeficiency 32a, mycobacteriosis, autosomal dominant10.2APOA1, APOA2, LPA
41obesity, hyperphagia, and developmental delay10.2APOA1, APOA2, LPA
42postsurgical hypothyroidism10.2B2M, TTR
43louse-borne relapsing fever10.1MEFV, TNFRSF1A
44immunodeficiency 1910.1APOA1, APOA2, LPA
45hyperphenilalaninemia due to pterin-4-alpha-carbin10.1APOA1, LPA
46narcissistic personality disorder10.1B2M, LYZ
47codas syndrome10.1APOA1, APOA2, LPA
48membranous glomerulonephritis10.0APP, LYZ, TNFRSF1A
49uterine inversion10.0APCS, LPA, TTR
50al gazali aziz salem syndrome10.0APP, B2M, LYZ, TTR

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



Diseases related to amyloidosis, familial visceral

Symptoms for Amyloidosis, Familial Visceral

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Symptoms by clinical synopsis from OMIM:

105200

Clinical features from OMIM:

105200

HPO human phenotypes related to Amyloidosis, Familial Visceral:

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

Drugs & Therapeutics for Amyloidosis, Familial Visceral

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

(show all 10)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Doxycyclineapproved, investigationalPhase 2219564-25-054671203, 5281011
Synonyms:
(2E,4S,4aR,5S,5aR,6R,12aS)-2-[amino(hydroxy)methylidene]-4-(dimethylamino)-5,10,11,12a-tetrahydroxy-6-methyl-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(2Z)-2-[amino(hydroxy)methylidene]-4-(dimethylamino)-5,10,11,12a-tetrahydroxy-6-methyl-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(2Z,4S,4aR,5S,5aR,6R)-2-[amino(hydroxy)methylidene]-4-(dimethylamino)-5,10,11,12a-tetrahydroxy-6-methyl-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(2Z,4S,4aR,5S,5aR,6R,12aS)-2-[amino(hydroxy)methylidene]-4-(dimethylamino)-5,10,11,12a-tetrahydroxy-6-methyl-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(4S,4AR,5S,5ar,6R,12as)-4-(dimethylamino)-3,5,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-1,4,4a,5,5a,6,11,12a-octahydrotetracene-2-carboxamide
(4S,4aR,5S,5aR,6R,12aS)-4-(dimethylamino)-3,5,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-1,4,4a,5,5a,6,11,12a-octahydrotetracene-2-carboxamide
10597-92-9
17086-28-1 (mono-hydrate)
2-Naphthacenecarboxamide, 4-(dimethylamino)-1,4,4a,5,5a,6,11,12a-octahydro-3,5,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-, (4S,4aR,5S,5aR,6R,12aS)
24390-14-5
41411-66-9 (6-epimer, mono-hydrochloride)
5-Hydroxy-alpha-6-deoxytetracycline
564-25-0
6-Deoxyoxytetracycline
6-Deoxytetracycline
6-alpha-Deoxy-5-oxytetracycline
6-alpha-deoxy-5-oxytetracycline
69935-17-7 (mono-hydrochloride, di-hydrate)
6alpha-Deoxy-5-oxytetracycline
6╬▒-deoxy-5-oxytetracycline
7164-70-7
7264-10-0
94088-85-4 (calcium salt (1:2))
AB08 (*Fosfatex)
AC1NQXW7
AC1NS4CW
AC1NUYS8
AC1O8PYM
Adoxa
Alodox
Alti-Doxycycline
Apo-Doxy
Atridox
Azudoxat
BCBcMAP01_000024
BIDD:GT0146
BMY-28689
BPBio1_000951
BSPBio_000863
BSPBio_001936
BU-3839T
C06973
CHEBI:50845
CHEMBL1433
CID5281011
CID5353597
CID5463943
CID6713981
CPD001550033
D07876
DB00254
DMSC (*Fosfatex)
DOXCYCLINE ANHYDROUS
DOXY
DOXYCYCLINE CALCIUM
DOXYCYCLINE MONOHYDRATE
Deoxymykoin
DivK1c_000345
Doryx
Dossiciclina
Dossiciclina [DCIT]
Doxcycline anhydrous
Doxiciclina
Doxiciclina [INN-Spanish]
Doxiciclina [Italian]
Doxitard
Doxivetin
Doxy 100
Doxy-Caps
Doxy-Puren
Doxy-Tabs
Doxycen
Doxychel
Doxychel (TN)
Doxycin
Doxycyclin
Doxycycline
Doxycycline (200mg/day) or Placebo
Doxycycline (INN)
 
Doxycycline (TN)
Doxycycline (anhydrous)
Doxycycline (internal use)
Doxycycline Hyclate
Doxycycline Monohydrate
Doxycycline anhydrous
Doxycycline hyclate
Doxycycline hydrochloride
Doxycycline-Chinoin
Doxycyclinum
Doxycyclinum [INN-Latin]
Doxysol
Doxytec
Doxytetracycline
EINECS 209-271-1
GS-3065 (*monohydrate)
HMS2090E06
HSDB 3071
Hydramycin
IDI1_000345
Investin
Jenacyclin
KBio1_000345
KBio2_001287
KBio2_003855
KBio2_006423
KBio3_001156
KBioGR_001133
KBioSS_001287
LS-187766
LS-93868
Liviatin
Lopac0_000405
MolPort-002-507-423
Monodox
Monodox (*monohydrate)
Morgidox
NCGC00161602-01
NCGC00161602-03
NCGC00161602-04
NCGC00167961-01
NCGC00179395-01
NINDS_000345
NSC633557
Novo-Doxylin
Nu-Doxycycline
Ocudox
Oracea
Prestwick0_000852
Prestwick1_000852
Prestwick2_000852
Prestwick3_000852
Ronaxan
SAM002589932
SMP1_000107
SPBio_000246
SPBio_002784
STOCK1N-34341
Spanor
Spectrum2_000143
Spectrum3_000408
Spectrum4_000527
Spectrum5_000947
Spectrum_000807
Supracyclin
UNII-334895S862
UPCMLD-DP021
UPCMLD-DP021:001
Vibra-tabs
Vibramycin
Vibramycin (*monohydrate)
Vibramycin Monohydrate
Vibramycin Novum
Vibramycine
Vibravenos
Vivox (*Hyclate)
alpha-6-Deoxy-5-hydroxytetracycline
alpha-6-Deoxyoxytetracycline
alpha-Doxycycline
doxycycline
2
Tauroursodeoxycholic acidapproved, investigationalPhase 21214605-22-212443252
Synonyms:
2-(((3-alpha,5-beta,7-beta)-3,7-Dihydroxy-24-oxocholan-24-yl) amino)ethanesulfonate
2-(((3-alpha,5-beta,7-beta)-3,7-Dihydroxy-24-oxocholan-24-yl) amino)ethanesulfonic acid
2-(((3-alpha,5-beta,7-beta)-3,7-Dihydroxy-24-oxocholan-24-yl)amino)-Ethanesulfonate
2-(((3-alpha,5-beta,7-beta)-3,7-Dihydroxy-24-oxocholan-24-yl)amino)-Ethanesulfonic acid
3a,7b-Dihydroxy-5b-cholanoyltaurine
 
N-(3-alpha,7-beta-Dihydroxy-5-beta-cholan-24-oyl)-Taurine
TUDCA
Tauroursodeoxycholate
Tauroursodeoxycholic acid
UR 906
Ursodeoxycholyltaurine
3Gastrointestinal AgentsPhase 26401
4Taurochenodeoxycholic AcidPhase 211
5Antiviral AgentsPhase 28071
6Antiprotozoal AgentsPhase 21730
7Anti-Infective AgentsPhase 217220
8AntimalarialsPhase 21058
9Antiparasitic AgentsPhase 21854
10Anti-Bacterial AgentsPhase 29140

Interventional clinical trials:

idNameStatusNCT IDPhase
1Safety, Efficacy and Pharmacokinetics of Doxycycline Plus Tauroursodeoxycholic Acid in Transthyretin AmyloidosisCompletedNCT01171859Phase 2

Search NIH Clinical Center for Amyloidosis, Familial Visceral

Genetic Tests for Amyloidosis, Familial Visceral

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Anatomical Context for Amyloidosis, Familial Visceral

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MalaCards organs/tissues related to Amyloidosis, Familial Visceral:

33
Skin

Animal Models for Amyloidosis, Familial Visceral or affiliated genes

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MGI Mouse Phenotypes related to Amyloidosis, Familial Visceral:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.2APOA1, B2M, FGA, LYZ, MEFV, TNFRSF1A
2MP:00107717.3APOA1, APP, B2M, FGA, GSN, LYZ
3MP:00053976.3APCS, APP, B2M, FGA, GSN, IAPP
4MP:00053876.0APCS, APP, B2M, FGA, GSN, IAPP
5MP:00053765.3APCS, APOA1, APOA2, APP, B2M, FGA

Publications for Amyloidosis, Familial Visceral

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Variations for Amyloidosis, Familial Visceral

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

67
id Symbol AA change Variation ID SNP ID
1APOA1p.Gly50ArgVAR_000609rs28931574
2APOA1p.Leu84ArgVAR_000610
3FGAp.Glu545ValVAR_010731
4FGAp.Arg573LeuVAR_010732
5LYZp.Ile74ThrVAR_004280
6LYZp.Asp85HisVAR_004281

Clinvar genetic disease variations for Amyloidosis, Familial Visceral:

5 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1LYZNM_000239.2(LYZ): c.221T> C (p.Ile74Thr)single nucleotide variantPathogenicrs121913547GRCh37Chr 12, 69743972: 69743972
2LYZNM_000239.2(LYZ): c.199G> C (p.Asp67His)single nucleotide variantPathogenicrs387906535GRCh37Chr 12, 69743950: 69743950
3LYZNM_000239.2(LYZ): c.244T> C (p.Trp82Arg)single nucleotide variantPathogenicrs387906536GRCh37Chr 12, 69743995: 69743995
4LYZNM_000239.2(LYZ): c.223T> A (p.Phe75Ile)single nucleotide variantPathogenicrs121913549GRCh37Chr 12, 69743974: 69743974
5LYZNM_000239.2(LYZ): c.244T> A (p.Trp82Arg)single nucleotide variantPathogenicrs387906536GRCh37Chr 12, 69743995: 69743995
6FGANM_000508.3(FGA): c.1718G> T (p.Arg573Leu)single nucleotide variantPathogenicrs78506343GRCh37Chr 4, 155506863: 155506863
7FGANM_000508.3(FGA): c.1622delT (p.Val541Alafs)deletionPathogenicrs587777761GRCh38Chr 4, 154585807: 154585807
8FGANM_000508.3(FGA): c.1634A> T (p.Glu545Val)single nucleotide variantPathogenicrs121909612GRCh37Chr 4, 155506947: 155506947
9FGANM_000508.3(FGA): c.1629delG (p.Thr544Leufs)deletionPathogenicrs587777762GRCh37Chr 4, 155506952: 155506952
10NM_000039.2(APOA1): c.251T> G (p.Leu84Arg)single nucleotide variantPathogenicrs121912724GRCh37Chr 11, 116707077: 116707077
11APOA1APOA1, 12-BP DEL AND 2-BP INSindelPathogenic
12NM_000039.2(APOA1): c.220T> C (p.Trp74Arg)single nucleotide variantPathogenicrs121912726GRCh37Chr 11, 116707108: 116707108
13APOA1NM_000039.2(APOA1): c.593T> C (p.Leu198Ser)single nucleotide variantPathogenicrs121912729GRCh37Chr 11, 116706735: 116706735
14APOA1NM_000039.2(APOA1): c.595G> C (p.Ala199Pro)single nucleotide variantPathogenicrs121912730GRCh37Chr 11, 116706733: 116706733
15B2MNM_004048.2(B2M): c.286G> A (p.Asp96Asn)single nucleotide variantPathogenicrs398122820GRCh37Chr 15, 45007839: 45007839

Expression for genes affiliated with Amyloidosis, Familial Visceral

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

Pathways for genes affiliated with Amyloidosis, Familial Visceral

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

idSuper pathwaysScoreTop Affiliating Genes
110.0APOA1, APOA2
29.6APP, SAA1
3
Show member pathways
9.3APOA1, SAA1, SAA2, SAA4
4
Show member pathways
9.3APOA1, SAA1, SAA2, SAA4
59.0APP, PSEN1
68.6APP, PSEN1, TNFRSF1A
7
Show member pathways
7.1APCS, APOA1, APP, B2M, FGA, GSN
8
Show member pathways
7.1APCS, APOA1, APP, B2M, FGA, GSN

GO Terms for genes affiliated with Amyloidosis, Familial Visceral

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

idNameGO IDScoreTop Affiliating Genes
1receptor complexGO:00432359.4APP, TNFRSF1A
2rough endoplasmic reticulumGO:00057918.7APP, PSEN1

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1peptidyl-methionine modificationGO:001820610.6APOA1, APOA2
2positive regulation of cholesterol esterificationGO:001087310.6APOA1, APOA2
3phospholipid effluxGO:003370010.6APOA1, APOA2
4lipoprotein biosynthetic processGO:004215810.6APOA1, APOA2
5reverse cholesterol transportGO:004369110.5APOA1, APOA2
6retina homeostasisGO:000189510.5B2M, LYZ
7phosphatidylcholine biosynthetic processGO:000665610.4APOA1, APOA2
8protein oxidationGO:001815810.3APOA1, APOA2
9high-density lipoprotein particle remodelingGO:003437510.3APOA1, APOA2
10cholesterol effluxGO:003334410.3APOA1, APOA2
11amyloid fibril formationGO:199000010.1APP, GSN
12negative regulation of inflammatory responseGO:00507289.9APOA1, SAA1, TNFRSF1A
13phototransduction, visible lightGO:00076039.8APOA1, APOA2, TTR
14platelet activationGO:00301689.6APOA1, APP, FGA
15acute-phase responseGO:00069539.5APCS, FGA, SAA2, SAA4
16extracellular matrix organizationGO:00301988.6APP, PSEN1, TTR
17cellular protein metabolic processGO:00442678.1APCS, APOA1, B2M, FGA, PSEN1, SAA1

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

idNameGO IDScoreTop Affiliating Genes
1high-density lipoprotein particle bindingGO:000803510.0APOA1, APOA2
2high-density lipoprotein particle receptor bindingGO:00706539.7APOA1, APOA2

Sources for Amyloidosis, Familial Visceral

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet