MCID: FML097
MIFTS: 17

Familial Amyloid Cardiomyopathy

Categories: Genetic diseases, Cardiovascular diseases

Aliases & Classifications for Familial Amyloid Cardiomyopathy

MalaCards integrated aliases for Familial Amyloid Cardiomyopathy:

Name: Familial Amyloid Cardiomyopathy 24
Danish Type Familial Amyloid Cardiomyopathy 69

Classifications:



Summaries for Familial Amyloid Cardiomyopathy

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). The drugs Diflunisal and Analgesics have been mentioned in the context of this disorder. Affiliated tissues include heart.

Wikipedia : 72 Familial Amyloid Cardiomyopathy (FAC), or Transthyretin Amyloid Cardiomyopathy (ATTR-CM) results from... more...

Related Diseases for Familial Amyloid Cardiomyopathy

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

id Related Disease Score Top Affiliating Genes
1 amyloidosis, hereditary, transthyretin-related 10.9
2 cardiomyopathy 10.3
3 guillain-barre syndrome 9.7
4 retinitis 9.7
5 restrictive cardiomyopathy 9.7

Graphical network of the top 20 diseases related to Familial Amyloid Cardiomyopathy:



Diseases related to Familial Amyloid Cardiomyopathy

Symptoms & Phenotypes for Familial Amyloid Cardiomyopathy

Drugs & Therapeutics for Familial Amyloid Cardiomyopathy

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

(show all 20)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Diflunisal Approved Phase 2, Phase 3 22494-42-4 3059
2 Analgesics Phase 2, Phase 3
3 Analgesics, Non-Narcotic Phase 2, Phase 3
4 Anti-Inflammatory Agents Phase 2, Phase 3
5 Anti-Inflammatory Agents, Non-Steroidal Phase 2, Phase 3
6 Antirheumatic Agents Phase 2, Phase 3
7 Cyclooxygenase Inhibitors Phase 2, Phase 3
8 Peripheral Nervous System Agents Phase 2, Phase 3
9
Doxycycline Approved, Investigational, Vet_approved Phase 1, Phase 2 564-25-0 54671203
10
Tauroursodeoxycholic acid Approved, Investigational Phase 1, Phase 2 14605-22-2 12443252
11
Ursodeoxycholic acid Approved, Investigational Phase 2 128-13-2 31401
12 Anti-Bacterial Agents Phase 1, Phase 2
13 Anti-Infective Agents Phase 1, Phase 2
14 Antimalarials Phase 1, Phase 2
15 Antiparasitic Agents Phase 1, Phase 2
16 Antiprotozoal Agents Phase 1, Phase 2
17 Antiviral Agents Phase 1, Phase 2
18 Cholagogues and Choleretics Phase 1, Phase 2
19 Gastrointestinal Agents Phase 1, Phase 2
20 Taurochenodeoxycholic Acid Phase 1, Phase 2

Interventional clinical trials:

(show all 15)

id Name Status NCT ID Phase Drugs
1 The Effect of Diflunisal on Familial Amyloidosis Completed NCT00294671 Phase 2, Phase 3 diflunisal
2 ENDEAVOUR: Phase 3 Multicenter Study of Revusiran (ALN-TTRSC) in Patients With Transthyretin (TTR) Mediated Familial Amyloidotic Cardiomyopathy (FAC) Completed NCT02319005 Phase 3 Revusiran (ALN-TTRSC);Sterile Normal Saline (0.9% NaCl)
3 Tolerability and Efficacy of a Combination of Doxycycline and TUDCA in Patients With Transthyretin Amyloid Cardiomyopathy Completed NCT01855360 Phase 1, Phase 2 Tauroursodeoxycholic Acid and Doxycycline
4 Safety, Efficacy and Pharmacokinetics of Doxycycline Plus Tauroursodeoxycholic Acid in Transthyretin Amyloidosis Completed NCT01171859 Phase 2 Doxycycline + Tauroursodeoxycholic acid
5 The Effects of Fx-1006A on Transthyretin Stabilization and Clinical Outcome Measures in Patients With Non-V30M Transthyretin Amyloidosis Completed NCT00630864 Phase 2 Fx-1006A
6 Safety and Effect of Doxycycline in Patients With Amyloidosis Completed NCT01677286 Phase 2 Doxycycline 100 mg po bid x 12 months
7 Safety and Efficacy Study of Doxycycline/UrsoDeoxyCholicAcid on Disease Progression in ATTR Amyloidosis Completed NCT02016365 Phase 2 Doxycycline;Ursodeoxycholic acid
8 Prevalence of Transthyretin Amyloidosis in Hypertrophic Cardiomyopathy Unknown status NCT01623245
9 Burden of Disease Study In Patients With Transthyretin Familial Amyloidosis Polyneuropathy (TTR-FAP) orTransthyretin Cardiomyopathy (TTR-CM) And Caregivers Completed NCT01604122
10 DISCOVERY: A Study Examining the Prevalence of TTR Mutations in Subjects Suspected of Having Cardiac Amyloidosis Completed NCT02252653
11 The Effect of Diflunisal on Familial Transthyretin Amyloidosis Completed NCT01432587 Diflunisal
12 Transthyretin-Associated Amyloidoses Outcome Survey (THAOS) Recruiting NCT00628745
13 Prevalence and Post-surgical Outcomes of CARdiac Wild-type TransthyrEtin amyloidoSIs in Elderly Patients With Aortic steNosis Referred for Valvular Replacement. Recruiting NCT02260466
14 Carpal Tunnel Syndrome and Amyloid Cardiomyopathy Active, not recruiting NCT02792790
15 Assessment of the Prevalence of TTR Amyloid Neuropathy in a Population of Patients With Neuropathy of Unknown Aetiology Not yet recruiting NCT03190577

Search NIH Clinical Center for Familial Amyloid Cardiomyopathy

Genetic Tests for Familial Amyloid Cardiomyopathy

Genetic tests related to Familial Amyloid Cardiomyopathy:

id Genetic test Affiliating Genes
1 Familial Amyloid Cardiomyopathy 24 TTR

Anatomical Context for Familial Amyloid Cardiomyopathy

MalaCards organs/tissues related to Familial Amyloid Cardiomyopathy:

39
Heart

Publications for Familial Amyloid Cardiomyopathy

Articles related to Familial Amyloid Cardiomyopathy:

(show all 15)
id Title Authors Year
1
Familial amyloid cardiomyopathy masquerading as chronic Guillain-Barre syndrome: things are not always what they seem. ( 28425041 )
2017
2
Correction: Structure-Based Analysis of A19D, a Variant of Transthyretin Involved in Familial Amyloid Cardiomyopathy. ( 24391693 )
2013
3
Retinal microangiopathy as an initial manifestation of familial amyloid cardiomyopathy associated with transthyretin e89k mutation. ( 25391122 )
2013
4
AG10 inhibits amyloidogenesis and cellular toxicity of the familial amyloid cardiomyopathy-associated V122I transthyretin. ( 23716704 )
2013
5
Structure-Based Analysis of A19D, a Variant of Transthyretin Involved in Familial Amyloid Cardiomyopathy. ( 24358189 )
2013
6
Two siblings diagnosed to have transthyretin-related familial amyloid cardiomyopathy around the same time at different hospitals. ( 22382560 )
2012
7
Familial amyloid cardiomyopathy due to TTR mutations: an underdiagnosed cause of restrictive cardiomyopathy [corrected]. ( 19477408 )
2009
8
Three siblings of familial amyloid cardiomyopathy with isoleucine-50 transthyretin mutation. ( 9314208 )
1997
9
Verification of the transthyretin Met 111 mutation in familial amyloid cardiomyopathy of Danish origin by DNA sequencing. ( 8168822 )
1994
10
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
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
Molecular diagnosis of the transthyretin (TTR) Met111 mutation in familial amyloid cardiomyopathy of Danish origin. ( 1618497 )
1992
13
Glycosaminoglycans in extracts of cardiac amyloid fibrils from familial amyloid cardiomyopathy of Danish origin related to variant transthyretin Met 111. ( 2068532 )
1991
14
A new prealbumin variant in familial amyloid cardiomyopathy of Danish origin. ( 3340821 )
1988
15
The amyloid in familial amyloid cardiomyopathy of Danish origin is related to pre-albumin. ( 3924450 )
1985

Variations for Familial Amyloid Cardiomyopathy

Expression for Familial Amyloid Cardiomyopathy

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

Pathways for Familial Amyloid Cardiomyopathy

GO Terms for Familial Amyloid Cardiomyopathy

Sources for Familial Amyloid Cardiomyopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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