MCID: FML097
MIFTS: 15

Familial Amyloid Cardiomyopathy malady

Categories: Genetic diseases (common), Cardiovascular diseases

Aliases & Classifications for Familial Amyloid Cardiomyopathy

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Aliases & Descriptions for Familial Amyloid Cardiomyopathy:

Name: Familial Amyloid Cardiomyopathy 23
 
Danish Type Familial Amyloid Cardiomyopathy 66

Classifications:



Summaries for Familial Amyloid Cardiomyopathy

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Wikipedia:69 Transthyretin Amyloid Cardiomyopathy (ATTR-CM), or Familial Amyloid Cardiomyopathy (FAC), results from... more...

MalaCards based summary: Familial Amyloid Cardiomyopathy, also known as danish type familial amyloid cardiomyopathy, is related to amyloidosis, hereditary, transthyretin-related and cardiomyopathy. An important gene associated with Familial Amyloid Cardiomyopathy is TTR (Transthyretin). Affiliated tissues include heart.

Related Diseases for Familial Amyloid Cardiomyopathy

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Diseases related to Familial Amyloid Cardiomyopathy via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1amyloidosis, hereditary, transthyretin-related11.2
2cardiomyopathy10.4
3retinitis9.8
4restrictive cardiomyopathy9.8

Symptoms for Familial Amyloid Cardiomyopathy

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Drugs & Therapeutics for Familial Amyloid Cardiomyopathy

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Drugs for Familial Amyloid Cardiomyopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
DiflunisalPhase 2, Phase 3422494-42-43059
Synonyms:
1FL
2',4'-Difluoro-4-hydroxy-(1,1'-biphenyl)-3-carboxylic acid
2',4'-Difluoro-4-hydroxy-3-biphenylcarboxylic acid
2',4'-difluoro-4-hydroxybiphenyl-3-carboxylic acid
2-(Hydroxy)-5-(2,4-difluorophenyl)benzoic acid
22494-42-4
5-(2,4-DIFLUOROPHENYL)-2-HYDROXY-BENZOIC ACID
5-(2,4-Difluorophenyl)salicylic acid
5-(2,4-difluorophenyl)-2-hydroxybenzoic acid
5-[2,4-Difluorophenyl]salicylic acid
AB00051969
AC1L1F2Z
Adomal
Algobid
Apo-Diflunisal
Apotex Brand of Diflunisal
BIDD:GT0063
BPBio1_000151
BRD-K22031190-001-05-3
BRN 2654431
BSPBio_000137
BSPBio_002203
C01691
C13H8F2O3
CAS-22494-42-4
CHEBI:39669
CHEMBL898
CID3059
CPD000058723
Cahill May Roberts Brand of Diflunisal
Citidol
D00130
D004061
D3281_FLUKA
D3281_SIGMA
DB00861
DB06895
Difludol
Diflunisal
Diflunisal (JAN/USP/INN)
Diflunisal Novopharm Brand
Diflunisal [USAN:INN:BAN:JAN]
Diflunisalum
Diflunisalum [INN-Latin]
DivK1c_000938
Dolisal
Dolobid
Dolobid (TN)
Dolobil
Dolobis
Dolocid
EINECS 245-034-9
Flovacil
Fluniget
Fluodonil
 
Flustar
Frosst SA Brand of Diflunisal
HMS1568G19
HMS1920G10
HMS2090C16
HMS2091M20
HMS502O20
I01-3451
IDI1_000938
KBio1_000938
KBio2_001442
KBio2_004010
KBio2_006578
KBio3_001423
KBioGR_001085
KBioSS_001442
LS-44258
MK 647
MK-647
MK647
MLS000028678
MLS001146895
Merck Brand of Diflunisal
Merck Sharp & Dohme Brand of Diflunisal
MolPort-001-727-460
NCGC00016765-01
NCGC00016765-02
NCGC00022783-03
NCGC00022783-04
NINDS_000938
Noaldol
Novo-Diflunisal
Novopharm Brand of Diflunisal
Nu Pharm Brand of Diflunisal
Nu-Diflunisal
Nu-Pharm Brand of Diflunisal
Prestwick0_000039
Prestwick1_000039
Prestwick2_000039
Prestwick3_000039
Prestwick_168
Reuflos
SAM002554896
SBB058143
SMR000058723
SPBio_001163
SPBio_002058
SPECTRUM1500245
Spectrum2_001012
Spectrum3_000392
Spectrum4_000513
Spectrum5_000901
Spectrum_000962
UNII-7C546U4DEN
Unisal
diflunisal
2
Ursodeoxycholic acidPhase 283128-13-231401
Synonyms:
(3a,5b,7b)-3,7-dihydroxy-cholan-24-oate
(3a,5b,7b)-3,7-dihydroxy-cholan-24-oic acid
(3a,5b,7b)-3,7-dihydroxycholan-24-oic acid
(3alpha,5beta,7beta)-3,7-dihydroxycholan-24-oic acid
(3alpha,5beta,7beta,8xi)-3,7-dihydroxycholan-24-oic acid
(3α,5β,7β)-3,7-dihydroxycholan-24-oic acid
(4R)-4-[(3R,5S,7S,8R,9S,10S,13R,14S,17R)-3,7-dihydroxy-10,13-dimethyl-2,3,4,5,6,7,8,9,11,12,14,15,16,17-tetradecahydro-1H-cyclopenta[a]phenanthren-17-yl]pentanoic acid
128-13-2
17-beta-(1-Methyl-3-carboxypropyl)etiocholane-3-alpha,7-beta-diol
3 alpha,7 beta-Dihydroxy-5 beta-cholan-24-oic Acid
3,7-Dihydroxycholan-24-oic acid
3-alpha,7-beta-Dihydroxy-5-beta-cholanoic acid
3-alpha,7-beta-Dihydroxycholanic acid
3-alpha,7-beta-Dioxycholanic acid
3a,7b-Dihydroxy-5b-cholan-24-oate
3a,7b-Dihydroxy-5b-cholan-24-oic acid
3alpha,7beta-Dihydroxy-5beta-cholan-24-oic acid
3alpha,7beta-Dihydroxy-5beta-cholanic acid
4-10-00-01604 (Beilstein Handbook Reference)
50809-41-1
5beta-Cholan-24-oic acid-3alpha,7beta-diol
5beta-Cholanic Acid-3alpha,7beta-diol
7-beta-Hydroxylithocholic acid
7beta-Hydroxylithocholic acid
80225-86-1
AB00513977
AC-18919
AC-2081
AC1L1LJH
Acide ursodesoxycholique
Acide ursodesoxycholique [INN-French]
Acido ursodeossicolico
Acido ursodeossicolico [Italian]
Acido ursodeoxicolico
Acido ursodeoxicolico [INN-Spanish]
Acidum ursodeoxycholicum
Acidum ursodeoxycholicum [INN-Latin]
Actigall
Actigall (TN)
Antigall
Arsacol
BB_NC-2372
BPBio1_001052
BRN 3219888
BSPBio_000956
C07880
C24H40O4
CCRIS 5502
CHEBI:9907
CHEMBL1551
CHEMBL73390
CID11516715
CID31401
CPD-10534
CPD000058403
Cholan-24-oic acid, 3,7-dihydroxy-, (3-alpha,5-beta,7-beta)- (9CI)
Cholit-ursan
D00734
DB01586
Delursan
Deoxyursocholic Acid
Destolit
Deursil
Dom-ursodiol c
EINECS 204-879-3
HMS1570P18
 
ISO-URSODEOXYCHOLIC ACID
IU5
LMST04010033
LS-53033
Litursol
Lyeton
MLS000028461
MLS001066373
MolPort-001-794-630
MolPort-005-932-884
NCGC00179363-01
NCI60_028904
NSC 657950
NSC 683769
PHL-ursodiol c
PMS-ursodiol c
Peptarom
Prestwick0_000958
Prestwick1_000958
Prestwick2_000958
Prestwick3_000958
S1643_Selleck
SAM002264653
SMP2_000012
SMR000058403
SPBio_003105
Sodium Ursodeoxycholate
Solutrat
U-9000
U0030
U5127_SIGMA
UDCA
UDCS
UNII-724L30Y2QR
URSODEOXYCHOLIC ACID
UrSO
Urosdesoxycholate
Urosdesoxycholic acid
Urosiol
Ursacholic Acid
Ursacol
Urso
Urso (TN)
Urso 250
Urso DS
Urso Forte
Ursobilin
Ursochol
Ursodamor
Ursodeoxy cholic acid
Ursodeoxycholate
Ursodeoxycholic acid
Ursodeoxycholic acid (JP15/INN)
Ursodeoxycholic acid, UDCA, Ursosan, Ursofalk, Urso Forte, Udiliv, Ursodiol
Ursodeoxycholicacid
Ursodesoxycholic acid
Ursodexycholate
Ursodexycholic Acid
Ursodexycholic acid
Ursodiol
Ursodiol (USP)
Ursodiol [USAN]
Ursofalk
Ursolvan
Ursosan
chenodeoxycholic acid
ursodeoxycholate
ursodiol
3
DoxycyclinePhase 2, Phase 1232564-25-054671203
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
6α-deoxy-5-oxytetracycline
7164-70-7
7264-10-0
94088-85-4 (calcium salt (1:2))
AB08 (*Fosfatex)
AC1NQXW7
AC1NS4CW
AC1NUYS8
AC1O8PYM
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
Dossiciclina
Dossiciclina [DCIT]
Doxcycline anhydrous
Doxiciclina
Doxiciclina [INN-Spanish]
Doxiciclina [Italian]
Doxitard
Doxivetin
Doxy-Caps
Doxy-Puren
Doxy-Tabs
Doxycen
Doxychel
Doxychel (TN)
Doxycin
Doxycyclin
Doxycycline (200mg/day) or Placebo
Doxycycline (INN)
 
Doxycycline (TN)
Doxycycline (anhydrous)
Doxycycline (internal use)
Doxycycline Hyclate
Doxycycline Monohydrate
Doxycycline anhydrous
Doxycycline hyclate
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)
NCGC00161602-01
NCGC00161602-03
NCGC00161602-04
NCGC00167961-01
NCGC00179395-01
NINDS_000345
NSC633557
Novo-Doxylin
Nu-Doxycycline
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 Novum
Vibramycine
Vibravenos
Vivox (*Hyclate)
alpha-6-Deoxy-5-hydroxytetracycline
alpha-6-Deoxyoxytetracycline
alpha-Doxycycline
doxycycline
4
Tauroursodeoxycholic acidPhase 2, Phase 11214605-22-212443252
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
Tauroursodesoxycholic acid
UR 906
Ursodeoxycholyltaurine

Interventional clinical trials:

(show all 14)
idNameStatusNCT IDPhase
1The Effect of Diflunisal on Familial AmyloidosisCompletedNCT00294671Phase 2, Phase 3
2ENDEAVOUR: Phase 3 Multicenter Study of Revusiran (ALN-TTRSC) in Patients With Transthyretin (TTR) Mediated Familial Amyloidotic Cardiomyopathy (FAC)Active, not recruitingNCT02319005Phase 3
3Safety, Efficacy and Pharmacokinetics of Doxycycline Plus Tauroursodeoxycholic Acid in Transthyretin AmyloidosisCompletedNCT01171859Phase 2
4Safety and Efficacy Study of Doxycycline/UrsoDeoxyCholicAcid on Disease Progression in ATTR AmyloidosisCompletedNCT02016365Phase 2
5The Effects of Fx-1006A on Transthyretin Stabilization and Clinical Outcome Measures in Patients With Non-V30M Transthyretin AmyloidosisCompletedNCT00630864Phase 2
6Tolerability and Efficacy of a Combination of Doxycycline and TUDCA in Patients With Transthyretin Amyloid CardiomyopathyActive, not recruitingNCT01855360Phase 1, Phase 2
7Burden of Disease Study In Patients With Transthyretin Familial Amyloidosis Polyneuropathy (TTR-FAP) orTransthyretin Cardiomyopathy (TTR-CM) And CaregiversCompletedNCT01604122
8The Effect of Diflunisal on Familial Transthyretin AmyloidosisCompletedNCT01432587
9DISCOVERY: A Study Examining the Prevalence of TTR Mutations in Subjects Suspected of Having Cardiac AmyloidosisCompletedNCT02252653
10Carpal Tunnel Syndrome and Amyloid CardiomyopathyRecruitingNCT02792790
11Prevalence and Post-surgical Outcomes of CARdiac Wild-type TransthyrEtin amyloidoSIs in Elderly Patients With Aortic steNosis Referred for Valvular Replacement.RecruitingNCT02260466
12Transthyretin-Associated Amyloidoses Outcome Survey (THAOS)RecruitingNCT00628745
13New Diagnostic Strategy in Hypertrophic CardiomyopathyRecruitingNCT02520856
14Prevalence of Transthyretin Amyloidosis in Hypertrophic CardiomyopathyActive, not recruitingNCT01623245

Search NIH Clinical Center for Familial Amyloid Cardiomyopathy

Genetic Tests for Familial Amyloid Cardiomyopathy

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Genetic tests related to Familial Amyloid Cardiomyopathy:

id Genetic test Affiliating Genes
1 Familial Amyloid Cardiomyopathy23 TTR

Anatomical Context for Familial Amyloid Cardiomyopathy

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MalaCards organs/tissues related to Familial Amyloid Cardiomyopathy:

34
Heart

Animal Models for Familial Amyloid Cardiomyopathy or affiliated genes

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Publications for Familial Amyloid Cardiomyopathy

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Articles related to Familial Amyloid Cardiomyopathy:

(show all 14)
idTitleAuthorsYear
1
Retinal microangiopathy as an initial manifestation of familial amyloid cardiomyopathy associated with transthyretin e89k mutation. (25391122)
2013
2
AG10 inhibits amyloidogenesis and cellular toxicity of the familial amyloid cardiomyopathy-associated V122I transthyretin. (23716704)
2013
3
Structure-Based Analysis of A19D, a Variant of Transthyretin Involved in Familial Amyloid Cardiomyopathy. (24358189)
2013
4
Correction: Structure-Based Analysis of A19D, a Variant of Transthyretin Involved in Familial Amyloid Cardiomyopathy. (24391693)
2013
5
Two siblings diagnosed to have transthyretin-related familial amyloid cardiomyopathy around the same time at different hospitals. (22382560)
2012
6
Familial amyloid cardiomyopathy due to TTR mutations: an underdiagnosed cause of restrictive cardiomyopathy [corrected]. (19477408)
2009
7
Three siblings of familial amyloid cardiomyopathy with isoleucine-50 transthyretin mutation. (9314208)
1997
8
Verification of the transthyretin Met 111 mutation in familial amyloid cardiomyopathy of Danish origin by DNA sequencing. (8168822)
1994
9
Retrospective molecular detection of Transthyretin Met 111 mutation in a Danish kindred with familial amyloid cardiomyopathy, using DNA from formalin-fixed and paraffin-embedded tissues. (8406434)
1993
10
Molecular diagnosis of the transthyretin (TTR) Met111 mutation in familial amyloid cardiomyopathy of Danish origin. (1618497)
1992
11
A Danish kindred with familial amyloid cardiomyopathy revisited: identification of a mutant transthyretin-methionine111 variant in serum from patients and carriers. (1626570)
1992
12
Glycosaminoglycans in extracts of cardiac amyloid fibrils from familial amyloid cardiomyopathy of Danish origin related to variant transthyretin Met 111. (2068532)
1991
13
A new prealbumin variant in familial amyloid cardiomyopathy of Danish origin. (3340821)
1988
14
The amyloid in familial amyloid cardiomyopathy of Danish origin is related to pre-albumin. (3924450)
1985

Variations for Familial Amyloid Cardiomyopathy

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Expression for genes affiliated with Familial Amyloid Cardiomyopathy

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Search GEO for disease gene expression data for Familial Amyloid Cardiomyopathy.

Pathways for genes affiliated with Familial Amyloid Cardiomyopathy

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GO Terms for genes affiliated with Familial Amyloid Cardiomyopathy

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Sources for Familial Amyloid Cardiomyopathy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet