MCID: AMY087
MIFTS: 33

Amyloidosis, Hereditary, Transthyretin-Related malady

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

Summaries for Amyloidosis, Hereditary, Transthyretin-Related

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OMIM:45 Hereditary amyloidoses are a clinically and genetically heterogeneous group of autosomal dominantly inherited diseases... (105210) more...

MalaCards based summary: Amyloidosis, Hereditary, Transthyretin-Related, also known as familial transthyretin amyloidosis, is related to amyloidosis and amyloid neuropathy, and has symptoms including autosomal dominant inheritance, urinary incontinence and hearing impairment. An important gene associated with Amyloidosis, Hereditary, Transthyretin-Related is TTR (transthyretin). Affiliated tissues include eye, brain and spinal cord.

Disease Ontology:9 An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and cns amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has material basis in autosomal dominant inheritance of mutations in the ttr gene.

Genetics Home Reference:21 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. These protein deposits most frequently occur in the peripheral nervous system, which is made up of nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound. Protein deposits in these nerves 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, may also be affected by amyloidosis. In some cases, the brain and spinal cord (central nervous system) are affected. Other areas of amyloidosis include the heart, kidneys, eyes, and gastrointestinal tract. The age at which symptoms begin to develop varies widely among individuals with this condition, and is typically between ages 20 and 70.

NIH Rare Diseases:41 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

GeneReviews summary for tfap

Aliases & Classifications for Amyloidosis, Hereditary, Transthyretin-Related

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Amyloidosis, Hereditary, Transthyretin-Related, Aliases & Descriptions:

Name: Amyloidosis, Hereditary, Transthyretin-Related 45 9 10 41 60
Familial Transthyretin Amyloidosis 9 19 41 20
Familial Amyloid Polyneuropathy 9 41 47
Transthyretin Amyloidosis 9 41 21
Type I Familial Amyloid Polyneuropathy 21 43
Transthyretin Amyloid Polyneuropathy 41 47
Transthyretin Amyloid Neuropathy 41 47
Ttr Amyloid Neuropathy 41 47
Familial Amyloid Neuropathy, Portuguese Type 60
Transthyretin-Related Hereditary Amyloidosis 9
Portuguese Type Familial Amyloid Neuropathy 21
Danish Type Familial Amyloid Cardiomyopathy 60
 
Type Ii Familial Amyloid Polyneuropathy 21
Portuguese Polyneuritic Amyloidosis 21
Amyloid Polyneuropathy, Swiss Type 60
Swiss Type Amyloid Polyneuropathy 21
Familial Amyloid Polyneuropathies 43
Amyloidosis Transthyretin Related 41
Amyloid Neuropathies, Familial 60
Corino De Andrade's Disease 9
Senile Cardiac Amyloidosis 60
Familial Ttr Amyloidosis 19
Ttr Amyloidosis 9


Classifications:



Characteristics (Orphanet epidemiological data):

47
familial amyloid polyneuropathy:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Japan); Age of onset: Adult; Age of death: adult


External Ids:

OMIM45 105210
Disease Ontology9 DOID:0050638
Orphanet47 85447
ICD10 via Orphanet26 E85.1

Related Diseases for Amyloidosis, Hereditary, Transthyretin-Related

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Graphical network of the top 20 diseases related to Amyloidosis, Hereditary, Transthyretin-Related:



Diseases related to amyloidosis, hereditary, transthyretin-related

Symptoms for Amyloidosis, Hereditary, Transthyretin-Related

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Symptoms by clinical synopsis from OMIM:

105210

Clinical features from OMIM:

105210

HPO human phenotypes related to Amyloidosis, Hereditary, Transthyretin-Related:

(show all 31)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 urinary incontinence HP:0000020
3 hearing impairment HP:0000365
4 visual impairment HP:0000505
5 nystagmus HP:0000639
6 dementia HP:0000726
7 impotence HP:0000802
8 seizures HP:0001250
9 ataxia HP:0001251
10 spasticity HP:0001257
11 dysarthria HP:0001260
12 hyporeflexia HP:0001265
13 hemiparesis HP:0001269
14 polyneuropathy HP:0001271
15 muscle weakness HP:0001324
16 tremor HP:0001337
17 cardiomyopathy HP:0001638
18 cardiomegaly HP:0001640
19 diarrhea HP:0002014
20 constipation HP:0002019
21 headache HP:0002315
22 stroke-like episodes HP:0002401
23 dysautonomia HP:0002459
24 increased csf protein HP:0002922
25 peripheral axonal neuropathy HP:0003477
26 adult onset HP:0003581
27 progressive disorder HP:0003676
28 phenotypic variability HP:0003812
29 orthostatic hypotension due to autonomic dysfunction HP:0004926
30 amyloid deposition in the vitreous humor HP:0007841
31 paraplegia HP:0010550

Drugs & Therapeutics for Amyloidosis, Hereditary, Transthyretin-Related

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Drug clinical trials:

Search ClinicalTrials for Amyloidosis, Hereditary, Transthyretin-Related

Search NIH Clinical Center for Amyloidosis, Hereditary, Transthyretin-Related

Genetic Tests for Amyloidosis, Hereditary, Transthyretin-Related

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Genetic tests related to Amyloidosis, Hereditary, Transthyretin-Related:

id Genetic test Affiliating Genes
1 Familial Transthyretin Amyloidosis20 TTR

Anatomical Context for Amyloidosis, Hereditary, Transthyretin-Related

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MalaCards organs/tissues related to Amyloidosis, Hereditary, Transthyretin-Related:

31
Eye, Brain, Spinal cord, Heart, Kidney, Bone

Animal Models for Amyloidosis, Hereditary, Transthyretin-Related or affiliated genes

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Publications for Amyloidosis, Hereditary, Transthyretin-Related

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Variations for Amyloidosis, Hereditary, Transthyretin-Related

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UniProtKB/Swiss-Prot genetic disease variations for Amyloidosis, Hereditary, Transthyretin-Related:

62 (show all 73)
id Symbol AA change Variation ID SNP ID
1TTRp.Cys30ArgVAR_007547
2TTRp.Asp38GluVAR_007548
3TTRp.Asp38GlyVAR_007549
4TTRp.Val40IleVAR_007550
5TTRp.Pro44SerVAR_007551rs11541790
6TTRp.Val50AlaVAR_007552
7TTRp.Val50LeuVAR_007553
8TTRp.Val50MetVAR_007554rs28933979
9TTRp.Phe53IleVAR_007555
10TTRp.Phe53LeuVAR_007556
11TTRp.Ala56ProVAR_007557
12TTRp.Glu62GlyVAR_007558rs11541796
13TTRp.Ala65AspVAR_007559
14TTRp.Ala65ThrVAR_007560
15TTRp.Gly67AlaVAR_007561
16TTRp.Gly67ArgVAR_007562
17TTRp.Gly67ValVAR_007563
18TTRp.Thr69AlaVAR_007564
19TTRp.Ser70IleVAR_007565
20TTRp.Ser70ArgVAR_007566
21TTRp.Ser72ProVAR_007567
22TTRp.Glu74GlyVAR_007568
23TTRp.Leu75ProVAR_007569
24TTRp.Leu78HisVAR_007570
25TTRp.Leu78ArgVAR_007571
26TTRp.Thr79LysVAR_007572
27TTRp.Thr80AlaVAR_007573
28TTRp.Glu81LysVAR_007574
29TTRp.Phe84LeuVAR_007575
30TTRp.Ile88LeuVAR_007576
31TTRp.Tyr89HisVAR_007577
32TTRp.Lys90AsnVAR_007578
33TTRp.Val91AlaVAR_007579
34TTRp.Ile93ValVAR_007580
35TTRp.Ser97TyrVAR_007582
36TTRp.Ile104AsnVAR_007583
37TTRp.Ile104SerVAR_007584
38TTRp.Glu109GlnVAR_007585
39TTRp.Ala111SerVAR_007587
40TTRp.Ala117GlyVAR_007588
41TTRp.Ile127ValVAR_007592
42TTRp.Leu131MetVAR_007594
43TTRp.Tyr134CysVAR_007595
44TTRp.Tyr136SerVAR_007596
45TTRp.Val142IleVAR_007600rs28933980
46TTRp.Val48MetVAR_010658
47TTRp.Glu109LysVAR_010659
48TTRp.Leu32ProVAR_038959
49TTRp.Ser43AsnVAR_038961
50TTRp.Val50GlyVAR_038962
51TTRp.Phe53ValVAR_038964
52TTRp.Arg54ThrVAR_038965
53TTRp.Lys55AsnVAR_038966
54TTRp.Asp58AlaVAR_038967
55TTRp.Asp58ValVAR_038968
56TTRp.Trp61LeuVAR_038969
57TTRp.Glu62AspVAR_038970rs11541796
58TTRp.Phe64SerVAR_038971
59TTRp.Ala65SerVAR_038972
60TTRp.Gly67GluVAR_038973
61TTRp.Thr69IleVAR_038974
62TTRp.Gly73GluVAR_038975
63TTRp.Glu74LysVAR_038976
64TTRp.Leu75GlnVAR_038977
65TTRp.Glu81GlyVAR_038978
66TTRp.Tyr98PheVAR_038979
67TTRp.Ile104ThrVAR_038980
68TTRp.Ala117SerVAR_038982
69TTRp.Thr126AsnVAR_038984
70TTRp.Ile127MetVAR_038985
71TTRp.Ala140SerVAR_038986
72TTRp.Val142AlaVAR_038987
73TTRp.Asn144SerVAR_038988

Clinvar genetic disease variations for Amyloidosis, Hereditary, Transthyretin-Related:

6 (show all 42)
id Gene Variation Type Significance SNP ID Assembly Location
1TTRNM_000371.3(TTR): c.148G> A (p.Val50Met)single nucleotide variantPathogenicrs28933979GRCh37Chr 18, 29172937: 29172937
2TTRNM_000371.3(TTR): c.157T> A (p.Phe53Ile)single nucleotide variantPathogenicrs121918068GRCh37Chr 18, 29172946: 29172946
3TTRNM_000371.3(TTR): c.401A> G (p.Tyr134Cys)single nucleotide variantPathogenicrs121918075GRCh37Chr 18, 29178595: 29178595
4TTRNM_000371.3(TTR): c.233T> A (p.Leu78His)single nucleotide variantPathogenicrs121918069GRCh37Chr 18, 29175115: 29175115
5TTRNM_000371.3(TTR): c.238A> G (p.Thr80Ala)single nucleotide variantPathogenicrs121918070GRCh37Chr 18, 29175120: 29175120
6TTRNM_000371.3(TTR): c.290C> A (p.Ser97Tyr)single nucleotide variantPathogenicrs121918071GRCh37Chr 18, 29175172: 29175172
7TTRNM_000371.3(TTR): c.311T> G (p.Ile104Ser)single nucleotide variantPathogenicrs121918072GRCh37Chr 18, 29175193: 29175193
8TTRNM_000371.3(TTR): c.391C> A (p.Leu131Met)single nucleotide variantPathogenicrs121918073GRCh37Chr 18, 29178585: 29178585
9TTRNM_000371.3(TTR): c.424G> A (p.Val142Ile)single nucleotide variantPathogenicrs76992529GRCh37Chr 18, 29178618: 29178618
10TTRNM_000371.3(TTR): c.328C> A (p.His110Asn)single nucleotide variantPathogenicrs121918074GRCh37Chr 18, 29175210: 29175210
11TTRNM_000371.3(TTR): c.185A> G (p.Glu62Gly)single nucleotide variantPathogenicrs11541796GRCh37Chr 18, 29172974: 29172974
12TTRNM_000371.3(TTR): c.210T> G (p.Ser70Arg)single nucleotide variantLikely pathogenic, Pathogenicrs121918076GRCh37Chr 18, 29175092: 29175092
13TTRNM_000371.3(TTR): c.149T> C (p.Val50Ala)single nucleotide variantPathogenicrs79977247GRCh37Chr 18, 29172938: 29172938
14TTRNM_000371.3(TTR): c.166G> C (p.Ala56Pro)single nucleotide variantPathogenicrs121918077GRCh37Chr 18, 29172955: 29172955
15TTRNM_000371.3(TTR): c.233T> G (p.Leu78Arg)single nucleotide variantPathogenicrs121918069GRCh37Chr 18, 29175115: 29175115
16TTRNM_000371.3(TTR): c.199G> C (p.Gly67Arg)single nucleotide variantPathogenicrs387906523GRCh37Chr 18, 29172988: 29172988
17TTRNM_000371.3(TTR): c.133G> A (p.Ala45Thr)single nucleotide variantPathogenicrs104894664GRCh37Chr 18, 29172922: 29172922
18TTRNM_000371.3(TTR): c.224T> C (p.Leu75Pro)single nucleotide variantPathogenicrs121918079GRCh37Chr 18, 29175106: 29175106
19TTRNM_000371.3(TTR): c.209G> T (p.Ser70Ile)single nucleotide variantPathogenicrs121918080GRCh37Chr 18, 29175091: 29175091
20TTRNM_000371.3(TTR): c.148G> C (p.Val50Leu)single nucleotide variantPathogenicrs28933979GRCh37Chr 18, 29172937: 29172937
21TTRNM_000371.3(TTR): c.205A> G (p.Thr69Ala)single nucleotide variantPathogenicrs121918081GRCh37Chr 18, 29175087: 29175087
22TTRNM_000371.3(TTR): c.325G> C (p.Glu109Gln)single nucleotide variantPathogenicrs121918082GRCh37Chr 18, 29175207: 29175207
23TTRNM_000371.3(TTR): c.270A> C (p.Lys90Asn)single nucleotide variantPathogenicrs267607160GRCh37Chr 18, 29175152: 29175152
24TTRNM_000371.3(TTR): c.88T> C (p.Cys30Arg)single nucleotide variantPathogenicrs121918083GRCh37Chr 18, 29172877: 29172877
25TTRNM_000371.3(TTR): c.272T> C (p.Val91Ala)single nucleotide variantPathogenicrs121918084GRCh37Chr 18, 29175154: 29175154
26TTRNM_000371.3(TTR): c.262A> T (p.Ile88Leu)single nucleotide variantPathogenicrs121918085GRCh37Chr 18, 29175144: 29175144
27TTRNM_000371.3(TTR): c.241G> A (p.Glu81Lys)single nucleotide variantPathogenicrs121918086GRCh37Chr 18, 29175123: 29175123
28TTRNM_000371.3(TTR): c.350C> G (p.Ala117Gly)single nucleotide variantPathogenicrs121918087GRCh37Chr 18, 29178544: 29178544
29TTRNM_000371.3(TTR): c.379A> G (p.Ile127Val)single nucleotide variantPathogenicrs121918089GRCh37Chr 18, 29178573: 29178573
30TTRNM_000371.3(TTR): c.200G> C (p.Gly67Ala)single nucleotide variantPathogenicrs121918090GRCh37Chr 18, 29172989: 29172989
31TTRNM_000371.3(TTR): c.250T> C (p.Phe84Leu)single nucleotide variantPathogenicrs121918091GRCh37Chr 18, 29175132: 29175132
32TTRNM_000371.3(TTR): c.118G> A (p.Val40Ile)single nucleotide variantPathogenicrs121918093GRCh37Chr 18, 29172907: 29172907
33TTRNM_000371.3(TTR): c.157T> C (p.Phe53Leu)single nucleotide variantPathogenicrs121918068GRCh37Chr 18, 29172946: 29172946
34TTRNM_000371.3(TTR): c.95T> C (p.Leu32Pro)single nucleotide variantPathogenicrs121918094GRCh37Chr 18, 29172884: 29172884
35TTRNM_000371.3(TTR): c.371G> A (p.Arg124His)single nucleotide variantPathogenicrs121918095GRCh37Chr 18, 29178565: 29178565
36TTRNM_000371.3(TTR): c.199G> A (p.Gly67Arg)single nucleotide variantPathogenicrs387906523GRCh37Chr 18, 29172988: 29172988
37TTRNM_000371.3(TTR): c.424_426delGTC (p.Val142del)deletionLikely pathogenic, Pathogenicrs121918096GRCh37Chr 18, 29178618: 29178620
38TTRNM_000371.3(TTR): c.191T> C (p.Phe64Ser)single nucleotide variantPathogenicrs104894665GRCh37Chr 18, 29172980: 29172980
39TTRNM_000371.3(TTR): c.113A> G (p.Asp38Gly)single nucleotide variantPathogenicrs121918098GRCh37Chr 18, 29172902: 29172902
40TTRNM_000371.3(TTR): c.349G> T (p.Ala117Ser)single nucleotide variantPathogenicrs267607161GRCh37Chr 18, 29178543: 29178543
41TTRNM_000371.3(TTR): c.208A> C (p.Ser70Arg)single nucleotide variantLikely pathogenicrs386134269GRCh37Chr 18, 29175090: 29175090
42TTRNM_000371.3(TTR): c.210T> A (p.Ser70Arg)single nucleotide variantLikely pathogenicrs121918076GRCh37Chr 18, 29175092: 29175092

Expression for genes affiliated with Amyloidosis, Hereditary, Transthyretin-Related

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Search GEO for disease gene expression data for Amyloidosis, Hereditary, Transthyretin-Related.

Pathways for genes affiliated with Amyloidosis, Hereditary, Transthyretin-Related

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Compounds for genes affiliated with Amyloidosis, Hereditary, Transthyretin-Related

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GO Terms for genes affiliated with Amyloidosis, Hereditary, Transthyretin-Related

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Products for genes affiliated with Amyloidosis, Hereditary, Transthyretin-Related

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Sources for Amyloidosis, Hereditary, Transthyretin-Related

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet