MCID: FML046
MIFTS: 31

Familial Transthyretin Amyloidosis malady

Neuronal, Genetic categories

Summaries for Familial Transthyretin Amyloidosis

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43NIH Rare Diseases, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 liver, spinal cord and brain.

GeneReviews summary for tfap

Aliases & Classifications for Familial Transthyretin Amyloidosis

Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 45Novoseek, 61UMLS
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Classifications:

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


Aliases & Descriptions:

familial transthyretin amyloidosis 19 43 20
amyloidosis, hereditary, transthyretin-related 43 61
transthyretin amyloid polyneuropathy 43
amyloidosis transthyretin related 43
familial amyloid polyneuropathies 45
transthyretin amyloid neuropathy 43
familial amyloid polyneuropathy 43
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

Drugs & Therapeutics for Familial Transthyretin Amyloidosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Sources:
33MalaCards
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MalaCards organs/tissues related to Familial Transthyretin Amyloidosis:

33
Liver, Spinal cord, Brain, Kidney, Heart, Endothelial

Animal Models for Familial Transthyretin Amyloidosis or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Familial Transthyretin Amyloidosis

Sources:
51PubMed
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Articles related to Familial Transthyretin Amyloidosis:

(show all 40)
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
I+-Synuclein aggregation in the saliva of familial transthyretin amyloidosis: a potential biomarker. (22591216)
2012
7
Familial Transthyretin Amyloidosis with Variant Asp38Ala Presenting with Orthostatic Hypotension and Chronic Diarrhea. (23346293)
2012
8
Familial amyloidotic polyneuropathy: current and emerging treatment options for transthyretin-mediated amyloidosis. (23776379)
2012
9
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
10
Clinical features and survival in senile systemic amyloidosis: comparison to familial transthyretin cardiomyopathy. (21838471)
2011
11
The relative amounts of plasma transthyretin forms in familial transthyretin amyloidosis: a quantitative analysis by Fourier transform ion-cyclotron resonance mass spectrometry. (22080762)
2011
12
Familial approach in hereditary transthyretin cardiac amyloidosis]. (21439703)
2011
13
Heart complications in familial transthyretin amyloidosis: impact of age and gender. (20462364)
2010
14
Vitreous amyloidosis in two sisters as the indication of transthyretin-related familial form of systemic amyloidosis among liver transplantation candidates. (19857683)
2009
15
Familial transthyretin amyloidosis]. (20143571)
2009
16
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
17
Heart transplantation for homozygous familial transthyretin (TTR) V122I cardiac amyloidosis. (18318779)
2008
18
Familial amyloidosis in a large Spanish kindred resulting from a D38V mutation in the transthyretin gene. (17635579)
2007
19
Identification of a novel TTR Gly67Glu mutant and the first case series of familial transthyretin amyloidosis in Hong Kong Chinese. (17968690)
2007
20
A novel type of familial transthyretin amyloidosis, ATTR Asn124Ser, with co-localization of kappa light chains. (17577687)
2007
21
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
22
Coexistence of familial transthyretin amyloidosis ATTR Val30Met and spinocerebellar ataxia type 1 in a Japanese family--a follow-up autopsy report. (15523922)
2004
23
Familial leptomeningeal amyloidosis with a transthyretin variant Asp18Gly representing repeated subarachnoid haemorrhages with superficial siderosis. (15377697)
2004
24
Clinical and pathological studies of cardiac amyloidosis in transthyretin type familial amyloid polyneuropathy. (14986482)
2003
25
Identification of S-sulfonation and S-thiolation of a novel transthyretin Phe33Cys variant from a patient diagnosed with familial transthyretin amyloidosis. (12876326)
2003
26
Identification of a novel transthyretin Thr59Lys/Arg104His. A case of compound heterozygosity in a Chinese patient diagnosed with familial transthyretin amyloidosis. (12440486)
2002
27
Cutaneous lymphatic amyloid deposits in "Hungarian-type" familial transthyretin amyloidosis: a case report. (11966704)
2002
28
Characterization of transthyretin variants in familial transthyretin amyloidosis by mass spectrometric peptide mapping and DNA sequence analysis. (11866053)
2002
29
Vitreous amyloidosis after liver transplantation in patients with familial amyloid polyneuropathy: ocular synthesis of mutant transthyretin. (11132095)
2000
30
Postmortem findings in two familial amyloidosis patients with transthyretin variant Asp38Ala. (11132096)
2000
31
A new transthyretin variant (Ser23Asn) associated with familial amyloidosis in a Portuguese patient. (10439117)
1999
32
Outcome of liver transplantation for transthyretin amyloidosis: follow-up of Japanese familial amyloidotic polyneuropathy patients. (10567045)
1999
33
A simple screening test for variant transthyretins associated with familial transthyretin amyloidosis using isoelectric focusing. (9748569)
1998
34
Familial meningocerebrovascular amyloidosis, Hungarian type, with mutant transthyretin (TTR Asp18Gly) (8960746)
1996
35
Transthyretin VAL107, a new variant associated with familial cardiac and neuropathic amyloidosis. (8081397)
1994
36
Familial Transthyretin Amyloidosis (20301373)
1993
37
Novel variant transthyretin gene (Ser50 to Ile) in familial cardiac amyloidosis. (1520336)
1992
38
Homozygosity for the transthyretin-Met30-gene in seven individuals with familial amyloidosis with polyneuropathy detected by restriction enzyme analysis of amplified genomic DNA sequences. (1353008)
1992
39
Systemic amyloidosis in transgenic mice carrying the human mutant transthyretin (Met30) gene. Pathologic similarity to human familial amyloidotic polyneuropathy, type I. (1992765)
1991
40
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

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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54Reactome, 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
Hide members
9.3TTR, SNCA
29.1ATXN1, SNCA

Compounds for genes affiliated with Familial Transthyretin Amyloidosis

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 24HMDB, 60Tocris Bioscience
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Compounds related to Familial Transthyretin Amyloidosis according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1thioflavin t459.6SNCA, TTR
2guanidine hydrochloride459.5TTR, SNCA
3alpha tocopherol459.5SNCA, TTR
4sodium dodecylsulfate459.4TTR, SNCA
5valine459.4SNCA, TTR
6phosphatidylserine45 29 1111.3TTR, SNCA
7paraffin459.3TTR, SNCA
8methionine459.2SNCA, TTR
9norepinephrine45 11 2411.0SNCA, TTR
10glutamine458.7SNCA, ATXN1, TTR
11testosterone45 60 11 2411.7TTR, ATXN1, SNCA

GO Terms for genes affiliated with Familial Transthyretin Amyloidosis

Sources:
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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet