MCID: FML046
MIFTS: 38

Familial Transthyretin Amyloidosis malady

Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Cardiovascular diseases categories

Summaries for Familial Transthyretin Amyloidosis

About this section
Sources:
44NIH Rare Diseases, 20GeneReviews, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
NIH Rare Diseases:44 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.

GeneReviews summary for tfap

Aliases & Classifications for Familial Transthyretin Amyloidosis

About this section
Sources:
44NIH Rare Diseases, 63UMLS, 20GeneReviews, 21GeneTests, 46Novoseek
See all sources

Classifications:



Aliases & Descriptions:

familial transthyretin amyloidosis 20 44 21
amyloidosis, hereditary, transthyretin-related 44 63
transthyretin amyloid polyneuropathy 44
amyloidosis transthyretin related 44
familial amyloid polyneuropathies 46
transthyretin amyloid neuropathy 44
familial amyloid polyneuropathy 44
transthyretin amyloidosis 44
familial ttr amyloidosis 20
ttr amyloid neuropathy 44


Related Diseases for Familial Transthyretin Amyloidosis

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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

About this section

Drugs & Therapeutics for Familial Transthyretin Amyloidosis

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Familial Transthyretin Amyloidosis

Drug clinical trials:

Search ClinicalTrials for Familial Transthyretin Amyloidosis

Search NIH Clinical Center for Familial Transthyretin Amyloidosis

Search CenterWatch for Familial Transthyretin Amyloidosis

Genetic Tests for Familial Transthyretin Amyloidosis

About this section
Sources:
21GeneTests
See all sources

Genetic tests related to Familial Transthyretin Amyloidosis:

id Genetic test Affiliating Genes
1 Familial Transthyretin Amyloidosis21 TTR

Anatomical Context for Familial Transthyretin Amyloidosis

About this section
Sources:
34MalaCards
See all sources

MalaCards organs/tissues related to Familial Transthyretin Amyloidosis:

34
Heart, Brain, Spinal cord, Kidney, Eye, Testes, Endothelial

Animal Models for Familial Transthyretin Amyloidosis or affiliated genes

About this section
Sources:
38MGI
See all sources

MGI Mouse Phenotypes related to Familial Transthyretin Amyloidosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.5SNCA, TTR, ATXN1

Publications for Familial Transthyretin Amyloidosis

About this section
Sources:
53PubMed
See all sources

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

About this section

Expression for genes affiliated with Familial Transthyretin Amyloidosis

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Familial Transthyretin Amyloidosis

Search GEO for disease gene expression data for Familial Transthyretin Amyloidosis.

Pathways for genes affiliated with Familial Transthyretin Amyloidosis

About this section
Sources:
51PathCards, 5Cell Signaling Technology, 56Reactome, 31KEGG
See all sources

Compounds for genes affiliated with Familial Transthyretin Amyloidosis

About this section
Sources:
46Novoseek, 30IUPHAR, 12DrugBank, 25HMDB, 62Tocris Bioscience
See all sources

Compounds related to Familial Transthyretin Amyloidosis according to GeneCards/GeneDecks:

(show all 14)
idCompoundScoreTop Affiliating Genes
1thioflavin t469.3SNCA, TTR
2guanidine hydrochloride469.3SNCA, TTR
3alpha tocopherol469.3SNCA, TTR
4sodium dodecylsulfate469.2SNCA, TTR
5valine469.2TTR, SNCA
6phosphatidylserine46 30 1211.2SNCA, TTR
7methionine469.1SNCA, TTR
8norepinephrine46 25 1211.1SNCA, TTR
9paraffin469.0TTR, SNCA
10adenylate469.0SNCA, TTR
11iron46 259.9SNCA, TTR
12glutamine468.8SNCA, TTR, ATXN1
13testosterone46 62 25 1211.8ATXN1, TTR, SNCA
14dopamine46 30 25 1211.7SNCA, TTR

GO Terms for genes affiliated with Familial Transthyretin Amyloidosis

About this section
Sources:
17Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Familial Transthyretin Amyloidosis

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet