MCID: AMY082
MIFTS: 43

Amyloidosis, Familial Visceral malady

Genetic diseases, Rare diseases, Metabolic diseases, Neuronal diseases, Nephrological diseases categories

Aliases & Classifications for Amyloidosis, Familial Visceral

About this section

Aliases & Descriptions for Amyloidosis, Familial Visceral:

Name: Amyloidosis, Familial Visceral 49 65
Ostertag Type Amyloidosis 10 45 67
German Type Amyloidosis 10 45 67
Familial Visceral Amyloidosis 10 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
Amyloidosis Systemic Nonneuropathic 45
Systemic Nonneuropathic Amyloidosis 10
 
Hereditary Amyloid Nephropathy 65
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


Classifications:



External Ids:

OMIM49 105200
Disease Ontology10 DOID:0050636
MedGen34 C0268389
MeSH36 D028226

Summaries for Amyloidosis, Familial Visceral

About this section
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 ostertag type amyloidosis, is related to familial mediterranean fever, ad and periodic fever, familial, and has symptoms including autosomal dominant inheritance, proteinuria and nephrotic syndrome. An important gene associated with Amyloidosis, Familial Visceral is APOA1 (Apolipoprotein A-I), 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 other and integument.

Description from OMIM:49 105200

Related Diseases for Amyloidosis, Familial Visceral

About this section

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 111)
idRelated DiseaseScoreTop Affiliating Genes
1familial mediterranean fever, ad30.4MEFV, SAA1, TNFRSF1A
2periodic fever, familial30.3MEFV, TNFRSF1A
3amyloidosis aa30.2APOA1, GSN, TTR
4hyper-igd syndrome30.2SAA1, TNFRSF1A
5amyloidosis10.6
6apoa1-related familial visceral amyloidosis10.4
7fga-related familial visceral amyloidosis10.4
8lyz-related familial visceral amyloidosis10.4
9glomerulonephritis10.4
10nephrotic syndrome10.4
11rheumatoid arthritis10.3
12arthritis10.3
13al gazali aziz salem syndrome10.3B2M, LYZ
14oropharyngeal anthrax10.3LYZ, MEFV
15muckle-wells syndrome10.3
16spinocerebellar ataxia 410.3APOA1, APOA2
17common peroneal nerve lesion10.3B2M, TTR
18tic disorder10.3B2M, TTR
19tooth ankylosis10.3LYZ, MEFV
20malignant cornea melanoma10.3B2M, LYZ
21familiar ovarian carcinoma10.2B2M, TTR
22uterine corpus adenofibroma10.2B2M, TTR
23amyloidosis, finnish type10.2GSN, TTR
24neonatal intrahepatic cholestasis due to citrin deficiency10.2MEFV, TNFRSF1A
25familial cold-induced inflammatory syndrome 110.2
26crescentic glomerulonephritis10.2
27rapidly progressive glomerulonephritis10.2
28non-immunoglobulin-mediated membranoproliferative glomerulonephritis10.2MEFV, TNFRSF1A
29disease of mental health10.2B2M, LYZ
30lethal infantile mitochondrial myopathy10.2MEFV, TNFRSF1A
31nephronophthisis10.2APOA1, LPA
32extrahepatic bile duct leiomyoma10.2B2M, FGA
33carpal tunnel syndrome, familial10.2APOA1, GSN, TTR
34chronic salpingitis10.2B2M, LYZ
35benign adult familial myoclonic epilepsy10.2APOA1, B2M, FGA, LYZ
36pediatric t-cell leukemia10.2GSN, TTR
37polyradiculoneuropathy10.2APOA1, GSN, TTR
38internal auditory canal meningioma10.1APCS, SAA1
39familial mediterranean fever, ar10.1
40pure red-cell aplasia10.1
41bronchiectasis10.1
42adult-onset still's disease10.1
43interstitial nephritis10.1
44hypoaldosteronism10.1
45aapoaii amyloidosis10.1
46hereditary amyloidosis with primary renal involement10.1
47aapoai amyloidosis10.1
48subclavian artery aneurysm10.1GSN, SAA1, TTR
49hypopharynx cancer10.1APOA1, APOA2, LPA
50esophagus carcinoma in situ10.1APOA1, APOA2, LPA

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



Diseases related to amyloidosis, familial visceral

Symptoms for Amyloidosis, Familial Visceral

About this section

Symptoms by clinical synopsis from OMIM:

105200

Clinical features from OMIM:

105200

HPO human phenotypes related to Amyloidosis, Familial Visceral:

(show all 12)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 proteinuria HP:0000093
3 nephrotic syndrome HP:0000100
4 nephropathy HP:0000112
5 hematuria HP:0000790
6 hypertension HP:0000822
7 edema HP:0000969
8 skin rash HP:0000988
9 cholestasis HP:0001396
10 splenomegaly HP:0001744
11 hepatomegaly HP:0002240
12 generalized amyloid deposition HP:0003216

Drugs & Therapeutics for Amyloidosis, Familial Visceral

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Doxycyclineapproved, investigationalPhase 2204564-25-054671203, 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
3Taurochenodeoxycholic AcidPhase 211

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

About this section

Anatomical Context for Amyloidosis, Familial Visceral

About this section

MalaCards organs/tissues related to Amyloidosis, Familial Visceral:

33
Skin

Animal Models for Amyloidosis, Familial Visceral or affiliated genes

About this section

MGI Mouse Phenotypes related to Amyloidosis, Familial Visceral:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053957.9APCS, APOA2, APP, PSEN1, TNFRSF1A
2MP:00107717.3APOA1, APP, B2M, FGA, GSN, MEFV
3MP:00053977.0APCS, APOA1, B2M, FGA, GSN, IAPP
4MP:00053876.0APCS, APOA1, APP, B2M, FGA, GSN
5MP:00053765.9APOA1, APOA2, APP, B2M, FGA, GSN

Publications for Amyloidosis, Familial Visceral

About this section

Variations for Amyloidosis, Familial Visceral

About this section

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_000039.1(APOA1): c.251T> G (p.Leu84Arg)single nucleotide variantPathogenicrs121912724GRCh37Chr 11, 116707077: 116707077
11APOA1APOA1, 12-BP DEL AND 2-BP INSindelPathogenic
12NM_000039.1(APOA1): c.220T> C (p.Trp74Arg)single nucleotide variantPathogenicrs121912726GRCh37Chr 11, 116707108: 116707108
13APOA1NM_000039.1(APOA1): c.593T> C (p.Leu198Ser)single nucleotide variantPathogenicrs121912729GRCh37Chr 11, 116706735: 116706735
14APOA1NM_000039.1(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

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

Pathways for genes affiliated with Amyloidosis, Familial Visceral

About this section

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

idSuper pathways (with members indented)ScoreTop 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
6
Show member pathways
7.1APCS, APOA1, APP, B2M, FGA, GSN
7
Show member pathways
7.1APCS, APOA1, APP, B2M, FGA, GSN

GO Terms for genes affiliated with Amyloidosis, Familial Visceral

About this section

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

idNameGO IDScoreTop Affiliating Genes
1spherical high-density lipoprotein particleGO:003436610.7APOA1, APOA2
2chylomicronGO:004262710.7APOA1, APOA2
3endocytic vesicle lumenGO:007168210.7APOA1, SAA1
4very-low-density lipoprotein particleGO:003436110.7APOA1, APOA2
5high-density lipoprotein particleGO:00343649.7APOA1, APOA2, SAA1, SAA2, SAA4
6blood microparticleGO:00725629.4APCS, APOA1, APOA2, FGA, GSN
7cell surfaceGO:00099868.1APOA1, APP, FGA, PSEN1, TNFRSF1A
8extracellular exosomeGO:00700626.5APCS, APOA1, APOA2, APP, B2M, FGA
9extracellular spaceGO:00056155.4APCS, APOA1, APOA2, APP, B2M, FGA
10extracellular regionGO:00055765.0APCS, APOA1, APOA2, APP, B2M, FGA

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

(show all 26)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of cytokine secretion involved in immune responseGO:000274010.6APOA1, APOA2
2positive regulation of cholesterol esterificationGO:001087310.6APOA1, APOA2
3peptidyl-methionine modificationGO:001820610.6APOA1, APOA2
4regulation of intestinal cholesterol absorptionGO:003030010.6APOA1, APOA2
5high-density lipoprotein particle assemblyGO:003438010.6APOA1, APOA2
6high-density lipoprotein particle clearanceGO:003438410.6APOA1, APOA2
7negative regulation of lipase activityGO:006019210.6APOA1, APOA2
8protein oxidationGO:001815810.6APOA1, APOA2
9negative regulation of very-low-density lipoprotein particle remodelingGO:001090310.6APOA1, APOA2
10phospholipid effluxGO:003370010.6APOA1, APOA2
11high-density lipoprotein particle remodelingGO:003437510.6APOA1, APOA2
12reverse cholesterol transportGO:004369110.6APOA1, APOA2
13negative regulation of viral entry into host cellGO:004659710.2APCS, GSN
14retinoid metabolic processGO:000152310.1APOA1, APOA2, TTR
15phototransduction, visible lightGO:000760310.1APOA1, APOA2, TTR
16lipoprotein metabolic processGO:004215710.1APOA1, APOA2, LPA
17lipid transportGO:000686910.0APOA1, APOA2, LPA
18positive chemotaxisGO:005091810.0SAA1, SAA2, SAA4
19platelet degranulationGO:00025769.9APOA1, APP, FGA
20negative regulation of inflammatory responseGO:00507289.8APOA1, MEFV, SAA1, TNFRSF1A
21regulation of epidermal growth factor-activated receptor activityGO:00071769.6APP, PSEN1
22acute-phase responseGO:00069539.3APCS, FGA, SAA1, SAA2, SAA4
23platelet activationGO:00301688.8APOA1, APP, FGA, SAA1
24extracellular matrix organizationGO:00301988.5APP, FGA, PSEN1, TTR
25innate immune responseGO:00450878.4APCS, APP, B2M, FGA, MEFV, SAA1
26cellular protein metabolic processGO:00442676.6APCS, APOA1, APP, B2M, FGA, GSN

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1cholesterol transporter activityGO:001712710.5APOA1, APOA2
2apolipoprotein receptor bindingGO:003419010.5APOA1, APOA2
3phosphatidylcholine-sterol O-acyltransferase activator activityGO:006022810.5APOA1, APOA2
4lipase inhibitor activityGO:005510210.5APOA1, APOA2
5high-density lipoprotein particle receptor bindingGO:007065310.5APOA1, APOA2
6lipid transporter activityGO:000531910.5APOA1, APOA2
7high-density lipoprotein particle bindingGO:000803510.4APOA1, APOA2
8phosphatidylcholine bindingGO:003121010.4APOA1, APOA2
9chemoattractant activityGO:00420569.7SAA1, SAA2, SAA4
10identical protein bindingGO:00428028.5APOA1, APP, B2M, IAPP, LYZ, TTR

Sources for Amyloidosis, Familial Visceral

About this section
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