MCID: FML046
MIFTS: 35

Familial Transthyretin Amyloidosis malady

Neuronal diseases, Genetic diseases categories

Summaries for Familial Transthyretin Amyloidosis

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42NIH Rare Diseases, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 Familial transthyretin amyloidosis is a slowly progressive condition characterized by the buildup of abnormal deposits of a protein called amyloid (amyloidosis) in the body's organs and tissues. amyloid deposits in the nerves of the peripheral nervous system result in a loss of sensation in the extremities (peripheral neuropathy). the autonomic nervous system (which controls involuntary body functions such as blood pressure, heart rate, and digestion) as well as the central nervous system (brain and spinal cord) may also be affected. other areas of the body affected include the heart, kidneys, eyes, and gastrointestinal tract. the age at which symptoms develop varies widely among affected individuals, and may be between ages 20 and 70 years. mutations in the ttr gene cause the condition. although it is inherited in an autosomal dominant pattern, not all people who have a ttr gene mutation will develop familial transthyretin amyloidosis. there are three major forms of familial transthyretin amyloidosis, which are distinguished by their symptoms and the body systems they affect. the neuropathic form of transthyretin amyloidosis primarily affects the peripheral and autonomic nervous systems, resulting in peripheral neuropathy and difficulty controlling bodily functions. the leptomeningeal form of transthyretin amyloidosis primarily affects the central nervous system. the cardiac form of transthyretin amyloidosis affects the heart. to read more about the different forms of familial transthyretin amyloidosis, click here. last updated: 7/1/2011

MalaCards: Familial Transthyretin Amyloidosis, also known as amyloidosis, hereditary, transthyretin-related, is related to amyloidosis and spinocerebellar ataxia. An important gene associated with Familial Transthyretin Amyloidosis is TTR (transthyretin), and among its related pathways are Packaging Of Telomere Ends and Neuroscience. The compounds thioflavin t and guanidine hydrochloride have been mentioned in the context of this disorder. Affiliated tissues include heart, spinal cord and brain.

GeneReviews summary for tfap

Aliases & Classifications for Familial Transthyretin Amyloidosis

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42NIH Rare Diseases, 60UMLS, 19GeneReviews, 20GeneTests, 44Novoseek
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases
Anatomical: Neuronal diseases


Aliases & Descriptions:

familial transthyretin amyloidosis 19 42 20
amyloidosis, hereditary, transthyretin-related 42 60
transthyretin amyloid polyneuropathy 42
amyloidosis transthyretin related 42
familial amyloid polyneuropathies 44
transthyretin amyloid neuropathy 42
familial amyloid polyneuropathy 42
familial ttr amyloidosis 19


Related Diseases for Familial Transthyretin Amyloidosis

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Familial Transthyretin Amyloidosis:



Diseases related to familial transthyretin amyloidosis

Clinical Features for Familial Transthyretin Amyloidosis

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Drugs & Therapeutics for Familial Transthyretin Amyloidosis

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Familial Transthyretin Amyloidosis

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20GeneTests
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Genetic tests related to Familial Transthyretin Amyloidosis:

id Genetic test Affiliating Genes
1 Familial Transthyretin Amyloidosis20 TTR

Anatomical Context for Familial Transthyretin Amyloidosis

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32MalaCards
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MalaCards organs/tissues related to Familial Transthyretin Amyloidosis:

32
Heart, Spinal cord, Brain, Kidney, Eye, Liver, Testes, Endothelial

Animal Models for Familial Transthyretin Amyloidosis or affiliated genes

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Publications for Familial Transthyretin Amyloidosis

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50PubMed
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Articles related to Familial Transthyretin Amyloidosis:

(show all 47)
idTitleAuthorsYear
1
Derivatization strategies for CE-LIF analysis of biomarkers: towards a clinical diagnostic of familial transthyretin amyloidosis. (24254376)
2013
2
Description of transthyretin S50A, S52P and G47A mutations in familial amyloidosis polyneuropathy. (24053266)
2013
3
(99m)Tc-pyrophosphate scintigraphy for differentiating light-chain cardiac amyloidosis from the transthyretin-related familial and senile cardiac amyloidoses. (23400849)
2013
4
Transthyretin Ala36Pro mutation in a Chinese pedigree of familial transthyretin amyloidosis with elevated vitreous and serum vascular endothelial growth factor. (23438977)
2013
5
Genotype, echocardiography, and survival in familial transthyretin amyloidosis. (24131106)
2013
6
Mutation p.G83R in the transthyretin gene is associated with hereditary vitreous amyloidosis in Han Chinese families. (23901247)
2013
7
I+-Synuclein aggregation in the saliva of familial transthyretin amyloidosis: a potential biomarker. (22591216)
2012
8
Familial Transthyretin Amyloidosis with Variant Asp38Ala Presenting with Orthostatic Hypotension and Chronic Diarrhea. (23346293)
2012
9
Familial amyloidotic polyneuropathy: current and emerging treatment options for transthyretin-mediated amyloidosis. (23776379)
2012
10
Technetium pyrophosphate myocardial uptake and peripheral neuropathy in a rare variant of familial transthyretin (TTR) amyloidosis (Ser23Asn): a case report and literature review. (22149423)
2012
11
Clinical features and survival in senile systemic amyloidosis: comparison to familial transthyretin cardiomyopathy. (21838471)
2011
12
The relative amounts of plasma transthyretin forms in familial transthyretin amyloidosis: a quantitative analysis by Fourier transform ion-cyclotron resonance mass spectrometry. (22080762)
2011
13
Transthyretin-related hereditary amyloidosis in a Chinese family with TTR Y114C mutation. (21135536)
2011
14
Familial approach in hereditary transthyretin cardiac amyloidosis]. (21439703)
2011
15
Heart complications in familial transthyretin amyloidosis: impact of age and gender. (20462364)
2010
16
Vitreous amyloidosis in two sisters as the indication of transthyretin-related familial form of systemic amyloidosis among liver transplantation candidates. (19857683)
2009
17
Familial transthyretin amyloidosis]. (20143571)
2009
18
Heart failure and cardiac involvement as isolated manifestation of familial form of transthyretin amyloidosis resulting from Val30Met mutation with no clinical signs of polyneuropathy. (19808383)
2009
19
Heart transplantation for homozygous familial transthyretin (TTR) V122I cardiac amyloidosis. (18318779)
2008
20
Familial amyloidosis in a large Spanish kindred resulting from a D38V mutation in the transthyretin gene. (17635579)
2007
21
Identification of a novel TTR Gly67Glu mutant and the first case series of familial transthyretin amyloidosis in Hong Kong Chinese. (17968690)
2007
22
A novel type of familial transthyretin amyloidosis, ATTR Asn124Ser, with co-localization of kappa light chains. (17577687)
2007
23
Cys-10 mixed disulfide modifications exacerbate transthyretin familial variant amyloidogenicity: a likely explanation for variable clinical expression of amyloidosis and the lack of pathology in C10S/V30M transgenic mice? (15966731)
2005
24
Coexistence of familial transthyretin amyloidosis ATTR Val30Met and spinocerebellar ataxia type 1 in a Japanese family--a follow-up autopsy report. (15523922)
2004
25
Familial leptomeningeal amyloidosis with a transthyretin variant Asp18Gly representing repeated subarachnoid haemorrhages with superficial siderosis. (15377697)
2004
26
Clinical and pathological studies of cardiac amyloidosis in transthyretin type familial amyloid polyneuropathy. (14986482)
2003
27
Cardiac manifestations of amyloidosis by deposits of transthyretin and apolipoprotein A1. Report of 3 families]. (12868344)
2003
28
Identification of S-sulfonation and S-thiolation of a novel transthyretin Phe33Cys variant from a patient diagnosed with familial transthyretin amyloidosis. (12876326)
2003
29
Identification of a novel transthyretin Thr59Lys/Arg104His. A case of compound heterozygosity in a Chinese patient diagnosed with familial transthyretin amyloidosis. (12440486)
2002
30
Cutaneous lymphatic amyloid deposits in "Hungarian-type" familial transthyretin amyloidosis: a case report. (11966704)
2002
31
Characterization of transthyretin variants in familial transthyretin amyloidosis by mass spectrometric peptide mapping and DNA sequence analysis. (11866053)
2002
32
Vitreous amyloidosis after liver transplantation in patients with familial amyloid polyneuropathy: ocular synthesis of mutant transthyretin. (11132095)
2000
33
Postmortem findings in two familial amyloidosis patients with transthyretin variant Asp38Ala. (11132096)
2000
34
Mutation and transcription analysis of transthyretin gene in Italian families with hereditary amyloidosis: a putative novel hot spot' in codon 47. (10845569)
2000
35
A new transthyretin variant (Ser23Asn) associated with familial amyloidosis in a Portuguese patient. (10439117)
1999
36
Outcome of liver transplantation for transthyretin amyloidosis: follow-up of Japanese familial amyloidotic polyneuropathy patients. (10567045)
1999
37
Novel transthyretin missense mutation (Thr34) in an Italian family with hereditary amyloidosis. (9605286)
1998
38
A simple screening test for variant transthyretins associated with familial transthyretin amyloidosis using isoelectric focusing. (9748569)
1998
39
Familial meningocerebrovascular amyloidosis, Hungarian type, with mutant transthyretin (TTR Asp18Gly) (8960746)
1996
40
A novel variant of transthyretin, 59Thr-->Lys, associated with autosomal dominant cardiac amyloidosis in an Italian family. (7850982)
1995
41
Two transthyretin mutations (Glu42Gly, His90Asn) in an Italian family with amyloidosis. (7923855)
1994
42
Transthyretin VAL107, a new variant associated with familial cardiac and neuropathic amyloidosis. (8081397)
1994
43
Transthyretin-related TTR hereditary amyloidosis of the vitreous body. Clinical and molecular characterization in two Italian families. (8345958)
1993
44
Familial Transthyretin Amyloidosis (20301373)
1993
45
Novel variant transthyretin gene (Ser50 to Ile) in familial cardiac amyloidosis. (1520336)
1992
46
Systemic amyloidosis in transgenic mice carrying the human mutant transthyretin (Met30) gene. Pathologic similarity to human familial amyloidotic polyneuropathy, type I. (1992765)
1991
47
Systemic senile amyloidosis. Identification of a new prealbumin (transthyretin) variant in cardiac tissue: immunologic and biochemical similarity to one form of familial amyloidotic polyneuropathy. (2646319)
1989

Genetic Variations for Familial Transthyretin Amyloidosis

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Expression for genes affiliated with Familial Transthyretin Amyloidosis

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Familial Transthyretin Amyloidosis

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Pathways for genes affiliated with Familial Transthyretin Amyloidosis

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53Reactome, 4Cell Signaling Technology
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Pathways related to Familial Transthyretin Amyloidosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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9.3TTR, SNCA
29.1ATXN1, SNCA

Compounds for genes affiliated with Familial Transthyretin Amyloidosis

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44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB, 59Tocris Bioscience
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Compounds related to Familial Transthyretin Amyloidosis according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1thioflavin t449.6TTR, SNCA
2guanidine hydrochloride449.5TTR, SNCA
3alpha tocopherol449.5TTR, SNCA
4sodium dodecylsulfate449.4SNCA, TTR
5valine449.4TTR, SNCA
6phosphatidylserine44 28 1111.3TTR, SNCA
7paraffin449.3TTR, SNCA
8methionine449.2SNCA, TTR
9norepinephrine44 11 2411.0TTR, SNCA
10glutamine448.7TTR, ATXN1, SNCA
11testosterone44 59 11 2411.7SNCA, ATXN1, TTR

GO Terms for genes affiliated with Familial Transthyretin Amyloidosis

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16Gene Ontology
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Biological processes related to Familial Transthyretin Amyloidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1adult locomotory behaviorGO:0083449.1ATXN1, SNCA
2regulation of excitatory postsynaptic membrane potentialGO:0600798.8ATXN1, SNCA

Molecular functions related to Familial Transthyretin Amyloidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1identical protein bindingGO:0428028.5TTR, ATXN1, SNCA

Products for genes affiliated with Familial Transthyretin Amyloidosis

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Sources for Familial Transthyretin Amyloidosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet