AMYL-TTR
MCID: AMY087
MIFTS: 46

Amyloidosis, Hereditary, Transthyretin-Related (AMYL-TTR) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Metabolic diseases, Cardiovascular diseases, Nephrological diseases, Immune diseases, Blood diseases

Aliases & Classifications for Amyloidosis, Hereditary, Transthyretin-Related

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

Name: Amyloidosis, Hereditary, Transthyretin-Related 54 12 50 13 69
Transthyretin Amyloidosis 12 50 25 66 14
Familial Transthyretin Amyloidosis 12 23 50 24
Transthyretin Amyloid Polyneuropathy 50 56 66
Transthyretin Amyloid Neuropathy 50 56 66
Familial Amyloid Polyneuropathy 12 50 66
Ttr Amyloid Neuropathy 50 56 66
Type I Familial Amyloid Polyneuropathy 25 52
Familial Amyloid Polyneuropathy Type I 56 66
Transthyretin-Related Familial Amyloid Cardiomyopathy 56
Hereditary Oculoleptomeningeal Amyloid Angiopathy 69
Transthyretin-Related Hereditary Amyloidosis 12
Hereditary Amyloidosis Transthyretin-Related 66
Familial Amyloid Neuropathy, Portuguese Type 69
Portuguese Type Familial Amyloid Neuropathy 25
Danish Type Familial Amyloid Cardiomyopathy 69
Familial Amyloid Polyneuropathy Type Ii 66
Type Ii Familial Amyloid Polyneuropathy 25
Portuguese Polyneuritic Amyloidosis 25
Ttr-Related Amyloid Cardiomyopathy 56
Amyloidosis, Transthyretin-Related 66
Meningocerebrovascular Amyloidosis 66
Amyloid Polyneuropathy, Swiss Type 69
Amyloidosis Transthyretin Related 50
Swiss Type Amyloid Polyneuropathy 25
Transthyretin Amyloid Cardiopathy 56
Familial Amyloid Polyneuropathies 52
Ttr-Related Cardiac Amyloidosis 56
Oculoleptomeningeal Amyloidosis 66
Amyloid Neuropathies, Familial 69
Attrv122i-Related Amyloidosis 56
Attrv30m-Related Amyloidosis 56
Corino De Andrade's Disease 12
Hereditary Attr Amyloidosis 50
Leptomeningeal Amyloidosis 66
Senile Cardiac Amyloidosis 69
Familial Ttr Amyloidosis 23
Amyloid Polyneuropathy 66
Attrv122i Amyloidosis 56
Amyloidosis Ohio Type 66
Attrv30m Amyloidosis 56
Amyloid Neuropathies 69
Attr Cardiomyopathy 56
Amyloidosis Type 7 66
Ttr Amyloidosis 12
Amyloidosis Vii 66
Amyloidosis I 66
Amyl-Ttr 66
Attr 66
Fap 66

Characteristics:

Orphanet epidemiological data:

56
attrv30m amyloidosis
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Japan),1-9/100000 (Spain); Age of onset: Adult; Age of death: adult;
attrv122i amyloidosis
Inheritance: Autosomal dominant; Age of onset: Adult; Age of death: elderly;

GeneReviews:

23
amyloidosis, hereditary, transthyretin-related:
Inheritance autosomal dominant inheritance
Onset and clinical course phenotypic variability progressive adult onset


GeneReviews:

23
Penetrance Because the penetrance for familial ttr amyloidosis is not 100%, an individual with a ttr pathogenic variant may be symptom free until late adulthood. the penetrance may vary by variant, geographic region, or ethnic group...

Classifications:



External Ids:

OMIM 54 105210
Disease Ontology 12 DOID:0050638
ICD10 via Orphanet 34 G63.3* E85.1+ I43.1* more
MeSH 42 D028226

Summaries for Amyloidosis, Hereditary, Transthyretin-Related

OMIM : 54 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 transthyretin amyloidosis, is related to familial oculoleptomeningeal amyloidosis and leptomeningeal amyloidosis, and has symptoms including ataxia, constipation and headache. An important gene associated with Amyloidosis, Hereditary, Transthyretin-Related is TTR (Transthyretin), and among its related pathways/superpathways are Ca, cAMP and Lipid Signaling and FOXA2 and FOXA3 transcription factor networks. The drugs Diflunisal and Analgesics have been mentioned in the context of this disorder. Affiliated tissues include heart, eye and kidney.

Disease Ontology : 12 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 : 25 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 : 50 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

UniProtKB/Swiss-Prot : 66 Amyloidosis, transthyretin-related: A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor.

Wikipedia : 71 Familial amyloid polyneuropathy (FAP), also called transthyretin-related hereditary amyloidosis,... more...

GeneReviews: NBK1194

Related Diseases for Amyloidosis, Hereditary, Transthyretin-Related

Diseases in the Amyloidosis family:

Amyloidosis, Hereditary, Transthyretin-Related Al Amyloidosis
Amyloidosis Aa Hereditary Amyloidosis
Primary Localized Amyloidosis Ah Amyloidosis

Diseases related to Amyloidosis, Hereditary, Transthyretin-Related via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 59)
id Related Disease Score Top Affiliating Genes
1 familial oculoleptomeningeal amyloidosis 12.2
2 leptomeningeal amyloidosis 12.1
3 familial amyloid polyneuropathy type 1 12.0
4 familial amyloid polyneuropathy type ii 12.0
5 wild type attr amyloidosis 12.0
6 familial adenomatous polyposis 11.9
7 attenuated familial adenomatous polyposis 11.8
8 adenomatous polyposis coli 11.8
9 adenomas, multiple colorectal 11.3
10 lattice corneal dystrophy 11.3
11 lattice corneal dystrophy type ii 11.3
12 familial amyloidosis, finnish type 11.3
13 amyloidosis, finnish type 11.2
14 melanoma 11.2
15 colorectal cancer 11.2
16 mismatch repair cancer syndrome 11.2
17 mutyh-associated polyposis 11.2
18 breast ductal carcinoma 11.2
19 glioma 11.1
20 infiltrative basal cell carcinoma 11.0
21 hereditary amyloidosis 11.0
22 familial adenomatous polyposis due to 5q22.2 microdeletion 10.7
23 axin2-related attenuated familial adenomatous polyposis 10.7
24 5q22 deletion syndrome 10.7
25 amyloidosis 10.7
26 desmoid disease, hereditary 10.7
27 pouchitis 10.7
28 duodenum cancer 10.7
29 gastric cancer, somatic 10.7
30 breast cancer 10.3
31 arthrogryposis, lethal, with anterior horn cell disease 10.1 GSN TTR
32 cellulitis 10.1 GSN TTR
33 penis agenesis 10.1 GSN TTR
34 cutaneous t cell lymphoma 10.1 MBTPS2 TTR
35 anaplastic ganglioglioma 10.1 APOA1 TTR
36 focal epithelial hyperplasia 10.0 APOA1 TTR
37 body dysmorphic disorder 10.0 APOA1 TTR
38 ciliary dyskinesia, primary, 5 10.0 GSN MBTPS2
39 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 10.0 GSN TTR
40 cardiomyopathy 10.0
41 anaplastic ependymoma 10.0 APOA1 GSN TTR
42 hereditary lymphedema type ii 10.0 APOA1 GSN TTR
43 van maldergem syndrome 2 10.0 APOA1 GSN TTR
44 hard palate cancer 10.0 APOA1 GSN TTR
45 polyneuropathy 9.9
46 white piedra 9.9 GSN TTR
47 neuropathy 9.9
48 thyroiditis 9.7
49 ataxia 9.7
50 headache 9.7

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



Diseases related to Amyloidosis, Hereditary, Transthyretin-Related

Symptoms & Phenotypes for Amyloidosis, Hereditary, Transthyretin-Related

Symptoms by clinical synopsis from OMIM:

105210

Clinical features from OMIM:

105210

Human phenotypes related to Amyloidosis, Hereditary, Transthyretin-Related:

32 (show all 28)
id Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 constipation 32 HP:0002019
3 headache 32 HP:0002315
4 seizures 32 HP:0001250
5 tremor 32 HP:0001337
6 diarrhea 32 HP:0002014
7 muscle weakness 32 HP:0001324
8 hemiparesis 32 HP:0001269
9 nystagmus 32 HP:0000639
10 spasticity 32 HP:0001257
11 dysarthria 32 HP:0001260
12 dysautonomia 32 HP:0002459
13 hearing impairment 32 HP:0000365
14 visual impairment 32 HP:0000505
15 cardiomegaly 32 HP:0001640
16 cardiomyopathy 32 HP:0001638
17 stroke-like episodes 32 HP:0002401
18 dementia 32 HP:0000726
19 hyporeflexia 32 HP:0001265
20 impotence 32 HP:0000802
21 polyneuropathy 32 HP:0001271
22 orthostatic hypotension due to autonomic dysfunction 32 HP:0004926
23 increased csf protein 32 HP:0002922
24 amyloidosis 32 HP:0011034
25 paraplegia 32 HP:0010550
26 urinary incontinence 32 HP:0000020
27 peripheral axonal neuropathy 32 HP:0003477
28 amyloid deposition in the vitreous humor 32 HP:0007841

UMLS symptoms related to Amyloidosis, Hereditary, Transthyretin-Related:


neuralgia, ataxia, constipation, diarrhea, headache, muscle spasticity, seizures, tremor

Drugs & Therapeutics for Amyloidosis, Hereditary, Transthyretin-Related

Drugs for Amyloidosis, Hereditary, Transthyretin-Related (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 35)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Diflunisal Approved Phase 2, Phase 3 22494-42-4 3059
2 Analgesics Phase 2, Phase 3
3 Cyclooxygenase Inhibitors Phase 2, Phase 3
4 Analgesics, Non-Narcotic Phase 2, Phase 3
5 Peripheral Nervous System Agents Phase 2, Phase 3
6 Anti-Inflammatory Agents Phase 2, Phase 3
7 Anti-Inflammatory Agents, Non-Steroidal Phase 2, Phase 3
8 Antirheumatic Agents Phase 2, Phase 3
9
Ursodeoxycholic acid Approved, Investigational Phase 2 128-13-2 31401
10
Tauroursodeoxycholic acid Approved, Investigational Phase 2,Phase 1 14605-22-2 12443252
11
Doxycycline Approved, Investigational, Vet_approved Phase 2,Phase 1 564-25-0 54671203
12 Cholagogues and Choleretics Phase 2,Phase 1
13 Gastrointestinal Agents Phase 2,Phase 1
14 Taurochenodeoxycholic Acid Phase 2,Phase 1
15 Anti-Bacterial Agents Phase 2,Phase 1
16 Anti-Infective Agents Phase 2,Phase 1
17 Antimalarials Phase 2,Phase 1
18 Liver Extracts Phase 2
19 Antiviral Agents Phase 2,Phase 1
20 Catechol O-Methyltransferase Inhibitors Phase 1, Phase 2
21 Antiparasitic Agents Phase 2,Phase 1
22 Antiparkinson Agents Phase 1, Phase 2
23 Antiprotozoal Agents Phase 2,Phase 1
24 Catechol Nutraceutical Phase 1, Phase 2
25
Ethanol Approved 64-17-5 702
26
Hydroxocobalamin Approved 13422-51-0 11953898 5460373 44475014
27
Cyanocobalamin Approved, Nutraceutical 68-19-9 44176380
28 Vitamin B 12
29 Vitamin B Complex
30 Vitamins
31 Immunoglobulins
32 Antibodies
33 Vitamin B12 Nutraceutical
34
Cobalamin Nutraceutical 13408-78-1 6438156
35
Methylcobalamin Experimental, Nutraceutical 13422-55-4

Interventional clinical trials:

(show all 33)
id Name Status NCT ID Phase
1 Safety and Efficacy Study of Fx-1006A in Patients With Familial Amyloidosis Completed NCT00409175 Phase 2, Phase 3
2 The Effect Of Tafamidis For The Transthyretin Amyloid Polyneuropathy Patients With V30M Or Non-V30M Transthyretin Completed NCT01435655 Phase 3
3 An Extension of Study Fx-005 Evaluating Long-Term Safety And Clinical Outcomes Of Fx-1006A In Patients With Transthyretin Amyloid Polyneuropathy Completed NCT00791492 Phase 2, Phase 3
4 The Effect of Diflunisal on Familial Amyloidosis Completed NCT00294671 Phase 2, Phase 3
5 ENDEAVOUR: Phase 3 Multicenter Study of Revusiran (ALN-TTRSC) in Patients With Transthyretin (TTR) Mediated Familial Amyloidotic Cardiomyopathy (FAC) Completed NCT02319005 Phase 3
6 Efficacy and Safety of IONIS-TTR Rx in Familial Amyloid Polyneuropathy Active, not recruiting NCT01737398 Phase 3
7 APOLLO: The Study of an Investigational Drug, Patisiran (ALN-TTR02), for the Treatment of Transthyretin (TTR)-Mediated Amyloidosis Active, not recruiting NCT01960348 Phase 3
8 Safety And Efficacy Evaluation Of Fx-1006A In Subjects With Transthyretin Amyloidosis Active, not recruiting NCT00925002 Phase 3
9 Open-Label Extension Assessing Long Term Safety and Efficacy of IONIS-TTR Rx in Familial Amyloid Polyneuropathy (FAP) Enrolling by invitation NCT02175004 Phase 3
10 The Study of an Investigational Drug, Patisiran (ALN-TTR02), for the Treatment of Transthyretin (TTR)-Mediated Amyloidosis in Patients Who Have Already Been Treated With ALN-TTR02 (Patisiran) Enrolling by invitation NCT02510261 Phase 3
11 Study of SOM0226 in Familial Amyloid Polyneuropathy Completed NCT02191826 Phase 1, Phase 2
12 The Study of an Investigational Drug, Revusiran (ALN-TTRSC), for the Treatment of Transthyretin (TTR)-Mediated Amyloidosis in Patients Whose Disease Has Continued to Worsen Following Liver Transplant Completed NCT02595983 Phase 2
13 Safety, Efficacy and Pharmacokinetics of Doxycycline Plus Tauroursodeoxycholic Acid in Transthyretin Amyloidosis Completed NCT01171859 Phase 2
14 The Effects of Fx-1006A on Transthyretin Stabilization and Clinical Outcome Measures in Patients With Non-V30M Transthyretin Amyloidosis Completed NCT00630864 Phase 2
15 Safety and Efficacy Study of Doxycycline/UrsoDeoxyCholicAcid on Disease Progression in ATTR Amyloidosis Completed NCT02016365 Phase 2
16 Safety and Effect of Doxycycline in Patients With Amyloidosis Completed NCT01677286 Phase 2
17 The Study of an Investigational Drug, ALN-TTR02 (Patisiran), for the Treatment of Transthyretin (TTR)-Mediated Amyloidosis in Patients Who Have Already Been Treated With ALN-TTR02 (Patisiran) Completed NCT01961921 Phase 2
18 Tolerability and Efficacy of a Combination of Doxycycline and TUDCA in Patients With Transthyretin Amyloid Cardiomyopathy Active, not recruiting NCT01855360 Phase 1, Phase 2
19 The Effect of an Antisense Oligonucleotide to Lower Transthyretin (TTR) Levels on the Progression of -Wild-type TTR Involving the Heart Withdrawn NCT02627820 Phase 2
20 A Safety and Tolerability Study of an Investigational Drug, ALN-TTRSC02, in Healthy Subjects Active, not recruiting NCT02797847 Phase 1
21 Prevalence of Transthyretin Amyloidosis in Hypertrophic Cardiomyopathy Unknown status NCT01623245
22 Study of Systemic Amyloidosis Presentation and Prognosis Unknown status NCT00004374
23 The Effect of Diflunisal on Familial Transthyretin Amyloidosis Completed NCT01432587
24 Burden of Disease Study In Patients With Transthyretin Familial Amyloidosis Polyneuropathy (TTR-FAP) orTransthyretin Cardiomyopathy (TTR-CM) And Caregivers Completed NCT01604122
25 DISCOVERY: A Study Examining the Prevalence of TTR Mutations in Subjects Suspected of Having Cardiac Amyloidosis Completed NCT02252653
26 Transthyretin-Associated Amyloidoses Outcome Survey (THAOS) Recruiting NCT00628745
27 Carpal Tunnel Syndrome and Amyloid Cardiomyopathy Recruiting NCT02792790
28 Prevalence and Post-surgical Outcomes of CARdiac Wild-type TransthyrEtin amyloidoSIs in Elderly Patients With Aortic steNosis Referred for Valvular Replacement. Recruiting NCT02260466
29 Biomarker for Patients With Transthyretin-Related Familial Amyloidotic Polyneuropathy Recruiting NCT02713880
30 Screening for the Transthyretin-Related Familial Amyloidotic Small Fiber Polyneuropathy Recruiting NCT01705626
31 Vyndaqel Drug Use Investigation (Regulatory Post Marketing Commitment Plan) Active, not recruiting NCT02146378
32 Expanded Access Protocol of Patisiran for Patients With Hereditary ATTR Amyloidosis (hATTR) Available NCT02939820
33 Radioisotope Scintigraphy to Establish Incidence of Cardiac Amyloidosis Among Patients With Otherwise Unexplained Cardiac Disease Not yet recruiting NCT03098901

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

Genetic Tests for Amyloidosis, Hereditary, Transthyretin-Related

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

id Genetic test Affiliating Genes
1 Familial Transthyretin Amyloidosis 24 TTR

Anatomical Context for Amyloidosis, Hereditary, Transthyretin-Related

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

39
Heart, Eye, Kidney, Brain, Spinal Cord, Bone

Publications for Amyloidosis, Hereditary, Transthyretin-Related

Variations for Amyloidosis, Hereditary, Transthyretin-Related

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

66 (show top 50) (show all 73)
id Symbol AA change Variation ID SNP ID
1 TTR p.Cys30Arg VAR_007547 rs121918083
2 TTR p.Asp38Glu VAR_007548
3 TTR p.Asp38Gly VAR_007549 rs121918098
4 TTR p.Val40Ile VAR_007550 rs121918093
5 TTR p.Pro44Ser VAR_007551 rs11541790
6 TTR p.Val50Ala VAR_007552 rs79977247
7 TTR p.Val50Leu VAR_007553 rs28933979
8 TTR p.Val50Met VAR_007554 rs28933979
9 TTR p.Phe53Ile VAR_007555 rs121918068
10 TTR p.Phe53Leu VAR_007556 rs121918068
11 TTR p.Ala56Pro VAR_007557 rs121918077
12 TTR p.Glu62Gly VAR_007558 rs11541796
13 TTR p.Ala65Asp VAR_007559 rs730881169
14 TTR p.Ala65Thr VAR_007560 rs121918078
15 TTR p.Gly67Ala VAR_007561 rs121918090
16 TTR p.Gly67Arg VAR_007562 rs387906523
17 TTR p.Gly67Val VAR_007563
18 TTR p.Thr69Ala VAR_007564 rs121918081
19 TTR p.Ser70Ile VAR_007565 rs121918080
20 TTR p.Ser70Arg VAR_007566 rs386134269
21 TTR p.Ser72Pro VAR_007567
22 TTR p.Glu74Gly VAR_007568
23 TTR p.Leu75Pro VAR_007569 rs121918079
24 TTR p.Leu78His VAR_007570 rs121918069
25 TTR p.Leu78Arg VAR_007571 rs121918069
26 TTR p.Thr79Lys VAR_007572 rs730881163
27 TTR p.Thr80Ala VAR_007573 rs121918070
28 TTR p.Glu81Lys VAR_007574 rs121918086
29 TTR p.Phe84Leu VAR_007575 rs121918091
30 TTR p.Ile88Leu VAR_007576 rs121918085
31 TTR p.Tyr89His VAR_007577 rs121918100
32 TTR p.Lys90Asn VAR_007578 rs267607160
33 TTR p.Val91Ala VAR_007579 rs121918084
34 TTR p.Ile93Val VAR_007580
35 TTR p.Ser97Tyr VAR_007582 rs121918071
36 TTR p.Ile104Asn VAR_007583
37 TTR p.Ile104Ser VAR_007584 rs121918072
38 TTR p.Glu109Gln VAR_007585 rs121918082
39 TTR p.Ala111Ser VAR_007587
40 TTR p.Ala117Gly VAR_007588 rs121918087
41 TTR p.Ile127Val VAR_007592 rs121918089
42 TTR p.Leu131Met VAR_007594 rs121918073
43 TTR p.Tyr134Cys VAR_007595 rs121918075
44 TTR p.Tyr136Ser VAR_007596 rs730881167
45 TTR p.Val142Ile VAR_007600 rs28933980
46 TTR p.Val48Met VAR_010658
47 TTR p.Glu109Lys VAR_010659
48 TTR p.Leu32Pro VAR_038959 rs121918094
49 TTR p.Ser43Asn VAR_038961
50 TTR p.Val50Gly VAR_038962 rs79977247

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

6 (show all 41)
id Gene Variation Type Significance SNP ID Assembly Location
1 TTR NM_000371.3(TTR): c.148G> A (p.Val50Met) single nucleotide variant Pathogenic rs28933979 GRCh37 Chromosome 18, 29172937: 29172937
2 TTR NM_000371.3(TTR): c.157T> A (p.Phe53Ile) single nucleotide variant Pathogenic rs121918068 GRCh37 Chromosome 18, 29172946: 29172946
3 TTR NM_000371.3(TTR): c.401A> G (p.Tyr134Cys) single nucleotide variant Pathogenic rs121918075 GRCh37 Chromosome 18, 29178595: 29178595
4 TTR NM_000371.3(TTR): c.233T> A (p.Leu78His) single nucleotide variant Pathogenic rs121918069 GRCh37 Chromosome 18, 29175115: 29175115
5 TTR NM_000371.3(TTR): c.238A> G (p.Thr80Ala) single nucleotide variant Pathogenic/Likely pathogenic rs121918070 GRCh37 Chromosome 18, 29175120: 29175120
6 TTR NM_000371.3(TTR): c.290C> A (p.Ser97Tyr) single nucleotide variant Pathogenic rs121918071 GRCh37 Chromosome 18, 29175172: 29175172
7 TTR NM_000371.3(TTR): c.311T> G (p.Ile104Ser) single nucleotide variant Pathogenic rs121918072 GRCh37 Chromosome 18, 29175193: 29175193
8 TTR NM_000371.3(TTR): c.391C> A (p.Leu131Met) single nucleotide variant Pathogenic rs121918073 GRCh37 Chromosome 18, 29178585: 29178585
9 TTR NM_000371.3(TTR): c.424G> A (p.Val142Ile) single nucleotide variant Pathogenic rs76992529 GRCh37 Chromosome 18, 29178618: 29178618
10 TTR NM_000371.3(TTR): c.185A> G (p.Glu62Gly) single nucleotide variant Pathogenic rs11541796 GRCh37 Chromosome 18, 29172974: 29172974
11 TTR NM_000371.3(TTR): c.210T> G (p.Ser70Arg) single nucleotide variant Pathogenic rs121918076 GRCh37 Chromosome 18, 29175092: 29175092
12 TTR NM_000371.3(TTR): c.149T> C (p.Val50Ala) single nucleotide variant Pathogenic rs79977247 GRCh37 Chromosome 18, 29172938: 29172938
13 TTR NM_000371.3(TTR): c.166G> C (p.Ala56Pro) single nucleotide variant Pathogenic rs121918077 GRCh37 Chromosome 18, 29172955: 29172955
14 TTR NM_000371.3(TTR): c.416C> T (p.Thr139Met) single nucleotide variant risk factor rs28933981 GRCh37 Chromosome 18, 29178610: 29178610
15 TTR NM_000371.3(TTR): c.233T> G (p.Leu78Arg) single nucleotide variant Pathogenic rs121918069 GRCh37 Chromosome 18, 29175115: 29175115
16 TTR NM_000371.3(TTR): c.199G> C (p.Gly67Arg) single nucleotide variant Pathogenic rs387906523 GRCh37 Chromosome 18, 29172988: 29172988
17 TTR NM_000371.3(TTR): c.133G> A (p.Ala45Thr) single nucleotide variant Pathogenic rs104894664 GRCh37 Chromosome 18, 29172922: 29172922
18 TTR NM_000371.3(TTR): c.224T> C (p.Leu75Pro) single nucleotide variant Pathogenic rs121918079 GRCh37 Chromosome 18, 29175106: 29175106
19 TTR NM_000371.3(TTR): c.209G> T (p.Ser70Ile) single nucleotide variant Pathogenic rs121918080 GRCh37 Chromosome 18, 29175091: 29175091
20 TTR NM_000371.3(TTR): c.148G> C (p.Val50Leu) single nucleotide variant Pathogenic rs28933979 GRCh37 Chromosome 18, 29172937: 29172937
21 TTR NM_000371.3(TTR): c.205A> G (p.Thr69Ala) single nucleotide variant Pathogenic rs121918081 GRCh37 Chromosome 18, 29175087: 29175087
22 TTR NM_000371.3(TTR): c.325G> C (p.Glu109Gln) single nucleotide variant Pathogenic rs121918082 GRCh37 Chromosome 18, 29175207: 29175207
23 TTR NM_000371.3(TTR): c.270A> C (p.Lys90Asn) single nucleotide variant Pathogenic rs267607160 GRCh37 Chromosome 18, 29175152: 29175152
24 TTR NM_000371.3(TTR): c.88T> C (p.Cys30Arg) single nucleotide variant Pathogenic rs121918083 GRCh37 Chromosome 18, 29172877: 29172877
25 TTR NM_000371.3(TTR): c.272T> C (p.Val91Ala) single nucleotide variant Pathogenic rs121918084 GRCh37 Chromosome 18, 29175154: 29175154
26 TTR NM_000371.3(TTR): c.262A> T (p.Ile88Leu) single nucleotide variant Pathogenic rs121918085 GRCh37 Chromosome 18, 29175144: 29175144
27 TTR NM_000371.3(TTR): c.241G> A (p.Glu81Lys) single nucleotide variant Pathogenic rs121918086 GRCh37 Chromosome 18, 29175123: 29175123
28 TTR NM_000371.3(TTR): c.350C> G (p.Ala117Gly) single nucleotide variant Pathogenic rs121918087 GRCh37 Chromosome 18, 29178544: 29178544
29 TTR NM_000371.3(TTR): c.379A> G (p.Ile127Val) single nucleotide variant Pathogenic rs121918089 GRCh37 Chromosome 18, 29178573: 29178573
30 TTR NM_000371.3(TTR): c.200G> C (p.Gly67Ala) single nucleotide variant Pathogenic rs121918090 GRCh37 Chromosome 18, 29172989: 29172989
31 TTR NM_000371.3(TTR): c.250T> C (p.Phe84Leu) single nucleotide variant Pathogenic rs121918091 GRCh37 Chromosome 18, 29175132: 29175132
32 TTR NM_000371.3(TTR): c.118G> A (p.Val40Ile) single nucleotide variant Pathogenic rs121918093 GRCh37 Chromosome 18, 29172907: 29172907
33 TTR NM_000371.3(TTR): c.157T> C (p.Phe53Leu) single nucleotide variant Pathogenic rs121918068 GRCh37 Chromosome 18, 29172946: 29172946
34 TTR NM_000371.3(TTR): c.95T> C (p.Leu32Pro) single nucleotide variant Pathogenic rs121918094 GRCh37 Chromosome 18, 29172884: 29172884
35 TTR NM_000371.3(TTR): c.199G> A (p.Gly67Arg) single nucleotide variant Pathogenic rs387906523 GRCh37 Chromosome 18, 29172988: 29172988
36 TTR NM_000371.3(TTR): c.424_426delGTC (p.Val142del) deletion Pathogenic/Likely pathogenic rs121918096 GRCh37 Chromosome 18, 29178618: 29178620
37 TTR NM_000371.3(TTR): c.191T> C (p.Phe64Ser) single nucleotide variant Pathogenic rs104894665 GRCh37 Chromosome 18, 29172980: 29172980
38 TTR NM_000371.3(TTR): c.113A> G (p.Asp38Gly) single nucleotide variant Pathogenic rs121918098 GRCh37 Chromosome 18, 29172902: 29172902
39 TTR NM_000371.3(TTR): c.349G> T (p.Ala117Ser) single nucleotide variant Pathogenic rs267607161 GRCh37 Chromosome 18, 29178543: 29178543
40 TTR NM_000371.3(TTR): c.208A> C (p.Ser70Arg) single nucleotide variant Likely pathogenic rs386134269 GRCh37 Chromosome 18, 29175090: 29175090
41 TTR NM_000371.3(TTR): c.210T> A (p.Ser70Arg) single nucleotide variant Likely pathogenic rs121918076 GRCh37 Chromosome 18, 29175092: 29175092

Expression for Amyloidosis, Hereditary, Transthyretin-Related

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

Pathways for Amyloidosis, Hereditary, Transthyretin-Related

Pathways related to Amyloidosis, Hereditary, Transthyretin-Related according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.05 APOA1 GSN
2 10.27 APOA1 TTR

GO Terms for Amyloidosis, Hereditary, Transthyretin-Related

Cellular components related to Amyloidosis, Hereditary, Transthyretin-Related according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 secretory granule lumen GO:0034774 8.62 APOA1 GSN

Biological processes related to Amyloidosis, Hereditary, Transthyretin-Related according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 steroid metabolic process GO:0008202 9.32 APOA1 MBTPS2
2 cholesterol metabolic process GO:0008203 9.26 APOA1 MBTPS2
3 retinoid metabolic process GO:0001523 9.16 APOA1 TTR
4 lipoprotein metabolic process GO:0042157 8.96 APOA1 MBTPS2
5 cellular protein metabolic process GO:0044267 8.8 APOA1 GSN TTR

Sources for Amyloidosis, Hereditary, Transthyretin-Related

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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34 ICD10 via Orphanet
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65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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