MCID: FML046
MIFTS: 38

Familial Transthyretin Amyloidosis malady

Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Cardiovascular diseases categories
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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 Neuroscience and RNA Polymerase I Promoter Opening. The compounds thioflavin t and guanidine hydrochloride have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and spinal cord, and related mouse phenotype homeostasis/metabolism.

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Aliases & Classifications for Familial Transthyretin Amyloidosis

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43NIH Rare Diseases, 62UMLS, 19GeneReviews, 20GeneTests, 45Novoseek
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Classifications:



Aliases & Descriptions:

familial transthyretin amyloidosis 19 43 20
amyloidosis, hereditary, transthyretin-related 43 62
transthyretin amyloid polyneuropathy 43
amyloidosis transthyretin related 43
familial amyloid polyneuropathies 45
transthyretin amyloid neuropathy 43
familial amyloid polyneuropathy 43
transthyretin amyloidosis 43
familial ttr amyloidosis 19
ttr amyloid neuropathy 43


Related Diseases for Familial Transthyretin Amyloidosis

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17GeneCards, 18GeneDecks
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Diseases in the Transthyretin Amyloidosis family:

familial transthyretin amyloidosis

Diseases related to Familial Transthyretin Amyloidosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 48)
idRelated DiseaseScoreTop Affiliating Genes
1amyloidosis31.2SNCA, TTR
2spinocerebellar ataxia30.3SNCA, ATXN1
3pure autonomic failure30.2TTR, SNCA
4transthyretin amyloidosis10.8
5amyloid neuropathy10.5
6carpal tunnel syndrome10.5
7lattice corneal dystrophy10.4
8polyneuropathy10.4
9cerebral amyloid angiopathy10.3
10cerebritis10.3
11corneal dystrophy10.3
12familial amyloid polyneuropathy type ii10.3
13finnish type amyloidosis10.3
14familial amyloidosis, finnish type10.3
15familial amyloid polyneuropathy type 110.3
16lattice corneal dystrophy type ii10.3
17neuropathy10.3
18hereditary amyloidosis10.3
19diarrhea10.2
20ataxia10.2
21endotheliitis10.2
22hepatitis c10.2
23machado-joseph disease10.2
24neuronitis10.2
25diabetes mellitus10.2
26hereditary neuropathy with liability to pressure palsies10.2
27al amyloidosis10.2
28hereditary neuropathy with liability to pressure palsy10.2
29lattice corneal dystrophy type 110.2
30lattice corneal dystrophy type 3a10.2
31dysphagia10.2
32hereditary neuropathies10.2
33siderosis10.1
34autonomic neuropathy10.1
35dementia10.1
36hepatitis10.1
37mononeuropathy10.1
38peripheral neuropathy10.1
39headache10.1
40amyotrophic lateral sclerosis 2, juvenile10.1
41superficial siderosis10.1
42senile systemic amyloidosis10.1
43spinocerebellar ataxia type 310.0SNCA, ATXN1
44multiple system atrophy10.0ATXN1, SNCA
45huntington's disease10.0SNCA, ATXN1
46malignant glioma10.0SNCA, TTR
47parkinson's disease9.9SNCA, TTR
48schizophrenia9.9SNCA, ATXN1

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



Diseases related to familial transthyretin amyloidosis

Symptoms for Familial Transthyretin Amyloidosis

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Drugs & Therapeutics for Familial Transthyretin Amyloidosis

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Familial Transthyretin Amyloidosis

Search NIH Clinical Center for Familial Transthyretin Amyloidosis

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

33
Heart, Brain, Spinal cord, Kidney, Eye, Testes, Endothelial

Animal Models for Familial Transthyretin Amyloidosis or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Familial Transthyretin Amyloidosis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.5SNCA, TTR, ATXN1

Publications for Familial Transthyretin Amyloidosis

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52PubMed
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Articles related to Familial Transthyretin Amyloidosis:

(show all 17)
idTitleAuthorsYear
1
Derivatization strategies for CE-LIF analysis of biomarkers: towards a clinical diagnostic of familial transthyretin amyloidosis. (24254376)
2013
2
Transthyretin Ala36Pro mutation in a Chinese pedigree of familial transthyretin amyloidosis with elevated vitreous and serum vascular endothelial growth factor. (23438977)
2013
3
Genotype, echocardiography, and survival in familial transthyretin amyloidosis. (24131106)
2013
4
I+-Synuclein aggregation in the saliva of familial transthyretin amyloidosis: a potential biomarker. (22591216)
2012
5
Familial Transthyretin Amyloidosis with Variant Asp38Ala Presenting with Orthostatic Hypotension and Chronic Diarrhea. (23346293)
2012
6
The relative amounts of plasma transthyretin forms in familial transthyretin amyloidosis: a quantitative analysis by Fourier transform ion-cyclotron resonance mass spectrometry. (22080762)
2011
7
Heart complications in familial transthyretin amyloidosis: impact of age and gender. (20462364)
2010
8
Familial transthyretin amyloidosis]. (20143571)
2009
9
Identification of a novel TTR Gly67Glu mutant and the first case series of familial transthyretin amyloidosis in Hong Kong Chinese. (17968690)
2007
10
A novel type of familial transthyretin amyloidosis, ATTR Asn124Ser, with co-localization of kappa light chains. (17577687)
2007
11
Coexistence of familial transthyretin amyloidosis ATTR Val30Met and spinocerebellar ataxia type 1 in a Japanese family--a follow-up autopsy report. (15523922)
2004
12
Identification of S-sulfonation and S-thiolation of a novel transthyretin Phe33Cys variant from a patient diagnosed with familial transthyretin amyloidosis. (12876326)
2003
13
Identification of a novel transthyretin Thr59Lys/Arg104His. A case of compound heterozygosity in a Chinese patient diagnosed with familial transthyretin amyloidosis. (12440486)
2002
14
Cutaneous lymphatic amyloid deposits in "Hungarian-type" familial transthyretin amyloidosis: a case report. (11966704)
2002
15
Characterization of transthyretin variants in familial transthyretin amyloidosis by mass spectrometric peptide mapping and DNA sequence analysis. (11866053)
2002
16
A simple screening test for variant transthyretins associated with familial transthyretin amyloidosis using isoelectric focusing. (9748569)
1998
17
Familial Transthyretin Amyloidosis (20301373)
1993

Variations for Familial Transthyretin Amyloidosis

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Expression for genes affiliated with Familial Transthyretin Amyloidosis

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2BioGPS, 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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50PathCards, 5Cell Signaling Technology, 55Reactome, 30KEGG
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Compounds for genes affiliated with Familial Transthyretin Amyloidosis

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45Novoseek, 29IUPHAR, 11DrugBank, 24HMDB, 61Tocris Bioscience
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Compounds related to Familial Transthyretin Amyloidosis according to GeneCards/GeneDecks:

(show all 14)
idCompoundScoreTop Affiliating Genes
1thioflavin t459.3SNCA, TTR
2guanidine hydrochloride459.3SNCA, TTR
3alpha tocopherol459.3SNCA, TTR
4sodium dodecylsulfate459.2SNCA, TTR
5valine459.2TTR, SNCA
6phosphatidylserine45 29 1111.2SNCA, TTR
7methionine459.1SNCA, TTR
8norepinephrine45 24 1111.1SNCA, TTR
9paraffin459.0TTR, SNCA
10adenylate459.0SNCA, TTR
11iron45 249.9SNCA, TTR
12glutamine458.8SNCA, TTR, ATXN1
13testosterone45 61 24 1111.8ATXN1, TTR, SNCA
14dopamine45 29 24 1111.7SNCA, 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:0083449.1SNCA, ATXN1
2regulation of excitatory postsynaptic membrane potentialGO:0600798.8SNCA, ATXN1

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

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

Products for genes affiliated with Familial Transthyretin Amyloidosis

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Sources for Familial Transthyretin Amyloidosis

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet