MCID: AMY087
MIFTS: 46

Amyloidosis, Hereditary, Transthyretin-Related 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

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

Name: Amyloidosis, Hereditary, Transthyretin-Related 50 11 46 12 66
Transthyretin Amyloidosis 11 46 24 13 68
Familial Transthyretin Amyloidosis 11 22 46 23
Transthyretin Amyloid Polyneuropathy 46 52 68
Transthyretin Amyloid Neuropathy 46 52 68
Familial Amyloid Polyneuropathy 11 46 68
Ttr Amyloid Neuropathy 46 52 68
Familial Amyloid Polyneuropathy Type I 52 68
Type I Familial Amyloid Polyneuropathy 24 48
Transthyretin-Related Familial Amyloid Cardiomyopathy 52
Transthyretin-Related Hereditary Amyloidosis 11
Familial Amyloid Neuropathy, Portuguese Type 66
Hereditary Amyloidosis Transthyretin-Related 68
Danish Type Familial Amyloid Cardiomyopathy 66
Portuguese Type Familial Amyloid Neuropathy 24
Familial Amyloid Polyneuropathy Type Ii 68
Type Ii Familial Amyloid Polyneuropathy 24
Portuguese Polyneuritic Amyloidosis 24
Meningocerebrovascular Amyloidosis 68
Amyloidosis, Transthyretin-Related 68
Amyloid Polyneuropathy, Swiss Type 66
Ttr-Related Amyloid Cardiomyopathy 52
Familial Amyloid Polyneuropathies 48
Swiss Type Amyloid Polyneuropathy 24
 
Amyloidosis Transthyretin Related 46
Transthyretin Amyloid Cardiopathy 52
Ttr-Related Cardiac Amyloidosis 52
Oculoleptomeningeal Amyloidosis 68
Amyloid Neuropathies, Familial 66
Attrv122i-Related Amyloidosis 52
Attrv30m-Related Amyloidosis 52
Corino De Andrade's Disease 11
Hereditary Attr Amyloidosis 46
Leptomeningeal Amyloidosis 68
Senile Cardiac Amyloidosis 66
Familial Ttr Amyloidosis 22
Amyloid Polyneuropathy 68
Amyloidosis Ohio Type 68
Attrv122i Amyloidosis 52
Attrv30m Amyloidosis 52
Attr Cardiomyopathy 52
Amyloidosis Type 7 68
Amyloidosis Vii 68
Ttr Amyloidosis 11
Amyloidosis I 68
Amyl-Ttr 68
Attr 68
Fap 68

Characteristics:

Orphanet epidemiological data:

52
transthyretin amyloid polyneuropathy:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Japan),1-9/100000 (Spain); Age of onset: Adult; Age of death: adult
transthyretin-related familial amyloid cardiomyopathy:
Inheritance: Autosomal dominant; Age of onset: Adult; Age of death: elderly

HPO:

62
amyloidosis, hereditary, transthyretin-related:
Inheritance: autosomal dominant inheritance
Onset and clinical course: adult onset, progressive, phenotypic variability


Classifications:



External Ids:

OMIM50 105210
Disease Ontology11 DOID:0050638
ICD10 via Orphanet29 E85.1+, G63.3*, E85.4+ I43.1*, more
MeSH37 D028226

Summaries for Amyloidosis, Hereditary, Transthyretin-Related

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OMIM:50 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 hyperexplexia, cardiac dyskinesia and ataxia. An important gene associated with Amyloidosis, Hereditary, Transthyretin-Related is TTR (Transthyretin), and among its related pathways are FOXA2 and FOXA3 transcription factor networks and Ca, cAMP and Lipid Signaling. Affiliated tissues include heart, kidney and eye.

Disease Ontology:11 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:24 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:46 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:68 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.

GeneReviews summary for NBK1194

Related Diseases for Amyloidosis, Hereditary, Transthyretin-Related

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Diseases in the Amyloidosis family:

amyloidosis, hereditary, transthyretin-related Amyloidosis Aa
Al Amyloidosis 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 53)
idRelated DiseaseScoreTop Affiliating Genes
1familial oculoleptomeningeal amyloidosis12.3
2leptomeningeal amyloidosis12.2
3familial amyloid polyneuropathy type 112.2
4familial amyloid polyneuropathy type ii12.2
5wild type attr amyloidosis12.1
6familial adenomatous polyposis11.7
7attenuated familial adenomatous polyposis11.7
8adenomatous polyposis coli11.7
9lattice corneal dystrophy type ii11.6
10lattice corneal dystrophy11.4
11familial amyloidosis, finnish type11.4
12amyloidosis, finnish type11.4
13adenomas, multiple colorectal11.2
14breast ductal carcinoma11.2
15glioma11.2
16congenital disorder of glycosylation, type ix11.1
17infiltrative basal cell carcinoma11.1
18colorectal cancer10.9
195q22 deletion syndrome10.9
20familial adenomatous polyposis due to 5q22.2 microdeletion10.9
21axin2-related attenuated familial adenomatous polyposis10.9
22amyloidosis10.9
23mutyh-associated polyposis10.5
24rheumatoid arthritis10.4
25breast cancer10.4
26lethal congenital contracture syndrome 110.2GSN, TTR
27plague10.2GSN, TTR
28multifocal choroiditis10.2GSN, TTR
29lymphoma10.2MBTPS2, TTR
30hereditary amyloidosis10.2
31cardiomyopathy10.1
32hypotrichosis 610.1GSN, TTR
33polyneuropathy10.1
34central nervous system adult germ cell tumor10.0APOA1, TTR
35coronary thrombosis10.0APOA1, GSN
36neuropathy10.0
37polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract10.0GSN, TTR
38hepatitis9.8
39siderosis9.8
40autonomic neuropathy9.8
41mononeuropathy9.8
42dementia9.8
43diarrhea9.8
44ataxia9.8
45headache9.8
46endotheliitis9.8
47superficial siderosis9.8
48squamous cell papilloma9.8APOA1, GSN, TTR
49survival motor neuron spinal muscular atrophy9.7APOA1, TTR
50amyoplasia mandibulofacial dysostosis9.4APOA1, GSN, LYZ, TTR

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

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


hyperexplexia, cardiac dyskinesia, ataxia, constipation, diarrhea, headache, muscle spasticity, seizures, tremor

Drugs & Therapeutics for Amyloidosis, Hereditary, Transthyretin-Related

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

(show all 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
DiflunisalPhase 2, Phase 3422494-42-43059
Synonyms:
1FL
2',4'-Difluoro-4-hydroxy-(1,1'-biphenyl)-3-carboxylic acid
2',4'-Difluoro-4-hydroxy-3-biphenylcarboxylic acid
2',4'-difluoro-4-hydroxybiphenyl-3-carboxylic acid
2-(Hydroxy)-5-(2,4-difluorophenyl)benzoic acid
22494-42-4
5-(2,4-DIFLUOROPHENYL)-2-HYDROXY-BENZOIC ACID
5-(2,4-Difluorophenyl)salicylic acid
5-(2,4-difluorophenyl)-2-hydroxybenzoic acid
5-[2,4-Difluorophenyl]salicylic acid
AB00051969
AC1L1F2Z
Adomal
Algobid
Apo-Diflunisal
Apotex Brand of Diflunisal
BIDD:GT0063
BPBio1_000151
BRD-K22031190-001-05-3
BRN 2654431
BSPBio_000137
BSPBio_002203
C01691
C13H8F2O3
CAS-22494-42-4
CHEBI:39669
CHEMBL898
CID3059
CPD000058723
Cahill May Roberts Brand of Diflunisal
Citidol
D00130
D004061
D3281_FLUKA
D3281_SIGMA
DB00861
DB06895
Difludol
Diflunisal
Diflunisal (JAN/USP/INN)
Diflunisal Novopharm Brand
Diflunisal [USAN:INN:BAN:JAN]
Diflunisalum
Diflunisalum [INN-Latin]
DivK1c_000938
Dolisal
Dolobid
Dolobid (TN)
Dolobil
Dolobis
Dolocid
EINECS 245-034-9
Flovacil
Fluniget
Fluodonil
 
Flustar
Frosst SA Brand of Diflunisal
HMS1568G19
HMS1920G10
HMS2090C16
HMS2091M20
HMS502O20
I01-3451
IDI1_000938
KBio1_000938
KBio2_001442
KBio2_004010
KBio2_006578
KBio3_001423
KBioGR_001085
KBioSS_001442
LS-44258
MK 647
MK-647
MK647
MLS000028678
MLS001146895
Merck Brand of Diflunisal
Merck Sharp & Dohme Brand of Diflunisal
MolPort-001-727-460
NCGC00016765-01
NCGC00016765-02
NCGC00022783-03
NCGC00022783-04
NINDS_000938
Noaldol
Novo-Diflunisal
Novopharm Brand of Diflunisal
Nu Pharm Brand of Diflunisal
Nu-Diflunisal
Nu-Pharm Brand of Diflunisal
Prestwick0_000039
Prestwick1_000039
Prestwick2_000039
Prestwick3_000039
Prestwick_168
Reuflos
SAM002554896
SBB058143
SMR000058723
SPBio_001163
SPBio_002058
SPECTRUM1500245
Spectrum2_001012
Spectrum3_000392
Spectrum4_000513
Spectrum5_000901
Spectrum_000962
UNII-7C546U4DEN
Unisal
diflunisal
2
Tauroursodeoxycholic acidPhase 2, Phase 11214605-22-212443252
Synonyms:
2-(((3-alpha,5-beta,7-beta)-3,7-Dihydroxy-24-oxocholan-24-yl) amino)ethanesulfonate
2-(((3-alpha,5-beta,7-beta)-3,7-Dihydroxy-24-oxocholan-24-yl) amino)ethanesulfonic acid
2-(((3-alpha,5-beta,7-beta)-3,7-Dihydroxy-24-oxocholan-24-yl)amino)-Ethanesulfonate
2-(((3-alpha,5-beta,7-beta)-3,7-Dihydroxy-24-oxocholan-24-yl)amino)-Ethanesulfonic acid
3a,7b-Dihydroxy-5b-cholanoyltaurine
 
N-(3-alpha,7-beta-Dihydroxy-5-beta-cholan-24-oyl)-Taurine
TUDCA
Tauroursodeoxycholate
Tauroursodeoxycholic acid
Tauroursodesoxycholic acid
UR 906
Ursodeoxycholyltaurine
3
DoxycyclinePhase 2, Phase 1232564-25-054671203
Synonyms:
(2E,4S,4aR,5S,5aR,6R,12aS)-2-[amino(hydroxy)methylidene]-4-(dimethylamino)-5,10,11,12a-tetrahydroxy-6-methyl-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(2Z)-2-[amino(hydroxy)methylidene]-4-(dimethylamino)-5,10,11,12a-tetrahydroxy-6-methyl-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(2Z,4S,4aR,5S,5aR,6R)-2-[amino(hydroxy)methylidene]-4-(dimethylamino)-5,10,11,12a-tetrahydroxy-6-methyl-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(2Z,4S,4aR,5S,5aR,6R,12aS)-2-[amino(hydroxy)methylidene]-4-(dimethylamino)-5,10,11,12a-tetrahydroxy-6-methyl-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(4S,4AR,5S,5ar,6R,12as)-4-(dimethylamino)-3,5,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-1,4,4a,5,5a,6,11,12a-octahydrotetracene-2-carboxamide
(4S,4aR,5S,5aR,6R,12aS)-4-(dimethylamino)-3,5,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-1,4,4a,5,5a,6,11,12a-octahydrotetracene-2-carboxamide
10597-92-9
17086-28-1 (mono-hydrate)
2-Naphthacenecarboxamide, 4-(dimethylamino)-1,4,4a,5,5a,6,11,12a-octahydro-3,5,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-, (4S,4aR,5S,5aR,6R,12aS)
24390-14-5
41411-66-9 (6-epimer, mono-hydrochloride)
5-Hydroxy-alpha-6-deoxytetracycline
564-25-0
6-Deoxyoxytetracycline
6-Deoxytetracycline
6-alpha-Deoxy-5-oxytetracycline
6-alpha-deoxy-5-oxytetracycline
69935-17-7 (mono-hydrochloride, di-hydrate)
6alpha-Deoxy-5-oxytetracycline
6α-deoxy-5-oxytetracycline
7164-70-7
7264-10-0
94088-85-4 (calcium salt (1:2))
AB08 (*Fosfatex)
AC1NQXW7
AC1NS4CW
AC1NUYS8
AC1O8PYM
Alti-Doxycycline
Apo-Doxy
Atridox
Azudoxat
BCBcMAP01_000024
BIDD:GT0146
BMY-28689
BPBio1_000951
BSPBio_000863
BSPBio_001936
BU-3839T
C06973
CHEBI:50845
CHEMBL1433
CID5281011
CID5353597
CID5463943
CID6713981
CPD001550033
D07876
DB00254
DMSC (*Fosfatex)
DOXCYCLINE ANHYDROUS
DOXY
DOXYCYCLINE CALCIUM
DOXYCYCLINE MONOHYDRATE
Deoxymykoin
DivK1c_000345
Dossiciclina
Dossiciclina [DCIT]
Doxcycline anhydrous
Doxiciclina
Doxiciclina [INN-Spanish]
Doxiciclina [Italian]
Doxitard
Doxivetin
Doxy-Caps
Doxy-Puren
Doxy-Tabs
Doxycen
Doxychel
Doxychel (TN)
Doxycin
Doxycyclin
Doxycycline (200mg/day) or Placebo
Doxycycline (INN)
 
Doxycycline (TN)
Doxycycline (anhydrous)
Doxycycline (internal use)
Doxycycline Hyclate
Doxycycline Monohydrate
Doxycycline anhydrous
Doxycycline hyclate
Doxycycline-Chinoin
Doxycyclinum
Doxycyclinum [INN-Latin]
Doxysol
Doxytec
Doxytetracycline
EINECS 209-271-1
GS-3065 (*monohydrate)
HMS2090E06
HSDB 3071
Hydramycin
IDI1_000345
Investin
Jenacyclin
KBio1_000345
KBio2_001287
KBio2_003855
KBio2_006423
KBio3_001156
KBioGR_001133
KBioSS_001287
LS-187766
LS-93868
Liviatin
Lopac0_000405
MolPort-002-507-423
Monodox
Monodox (*monohydrate)
NCGC00161602-01
NCGC00161602-03
NCGC00161602-04
NCGC00167961-01
NCGC00179395-01
NINDS_000345
NSC633557
Novo-Doxylin
Nu-Doxycycline
Oracea
Prestwick0_000852
Prestwick1_000852
Prestwick2_000852
Prestwick3_000852
Ronaxan
SAM002589932
SMP1_000107
SPBio_000246
SPBio_002784
STOCK1N-34341
Spanor
Spectrum2_000143
Spectrum3_000408
Spectrum4_000527
Spectrum5_000947
Spectrum_000807
Supracyclin
UNII-334895S862
UPCMLD-DP021
UPCMLD-DP021:001
Vibra-tabs
Vibramycin
Vibramycin (*monohydrate)
Vibramycin Novum
Vibramycine
Vibravenos
Vivox (*Hyclate)
alpha-6-Deoxy-5-hydroxytetracycline
alpha-6-Deoxyoxytetracycline
alpha-Doxycycline
doxycycline
4
Ursodeoxycholic acidPhase 283128-13-231401
Synonyms:
(3a,5b,7b)-3,7-dihydroxy-cholan-24-oate
(3a,5b,7b)-3,7-dihydroxy-cholan-24-oic acid
(3a,5b,7b)-3,7-dihydroxycholan-24-oic acid
(3alpha,5beta,7beta)-3,7-dihydroxycholan-24-oic acid
(3alpha,5beta,7beta,8xi)-3,7-dihydroxycholan-24-oic acid
(3α,5β,7β)-3,7-dihydroxycholan-24-oic acid
(4R)-4-[(3R,5S,7S,8R,9S,10S,13R,14S,17R)-3,7-dihydroxy-10,13-dimethyl-2,3,4,5,6,7,8,9,11,12,14,15,16,17-tetradecahydro-1H-cyclopenta[a]phenanthren-17-yl]pentanoic acid
128-13-2
17-beta-(1-Methyl-3-carboxypropyl)etiocholane-3-alpha,7-beta-diol
3 alpha,7 beta-Dihydroxy-5 beta-cholan-24-oic Acid
3,7-Dihydroxycholan-24-oic acid
3-alpha,7-beta-Dihydroxy-5-beta-cholanoic acid
3-alpha,7-beta-Dihydroxycholanic acid
3-alpha,7-beta-Dioxycholanic acid
3a,7b-Dihydroxy-5b-cholan-24-oate
3a,7b-Dihydroxy-5b-cholan-24-oic acid
3alpha,7beta-Dihydroxy-5beta-cholan-24-oic acid
3alpha,7beta-Dihydroxy-5beta-cholanic acid
4-10-00-01604 (Beilstein Handbook Reference)
50809-41-1
5beta-Cholan-24-oic acid-3alpha,7beta-diol
5beta-Cholanic Acid-3alpha,7beta-diol
7-beta-Hydroxylithocholic acid
7beta-Hydroxylithocholic acid
80225-86-1
AB00513977
AC-18919
AC-2081
AC1L1LJH
Acide ursodesoxycholique
Acide ursodesoxycholique [INN-French]
Acido ursodeossicolico
Acido ursodeossicolico [Italian]
Acido ursodeoxicolico
Acido ursodeoxicolico [INN-Spanish]
Acidum ursodeoxycholicum
Acidum ursodeoxycholicum [INN-Latin]
Actigall
Actigall (TN)
Antigall
Arsacol
BB_NC-2372
BPBio1_001052
BRN 3219888
BSPBio_000956
C07880
C24H40O4
CCRIS 5502
CHEBI:9907
CHEMBL1551
CHEMBL73390
CID11516715
CID31401
CPD-10534
CPD000058403
Cholan-24-oic acid, 3,7-dihydroxy-, (3-alpha,5-beta,7-beta)- (9CI)
Cholit-ursan
D00734
DB01586
Delursan
Deoxyursocholic Acid
Destolit
Deursil
Dom-ursodiol c
EINECS 204-879-3
HMS1570P18
 
ISO-URSODEOXYCHOLIC ACID
IU5
LMST04010033
LS-53033
Litursol
Lyeton
MLS000028461
MLS001066373
MolPort-001-794-630
MolPort-005-932-884
NCGC00179363-01
NCI60_028904
NSC 657950
NSC 683769
PHL-ursodiol c
PMS-ursodiol c
Peptarom
Prestwick0_000958
Prestwick1_000958
Prestwick2_000958
Prestwick3_000958
S1643_Selleck
SAM002264653
SMP2_000012
SMR000058403
SPBio_003105
Sodium Ursodeoxycholate
Solutrat
U-9000
U0030
U5127_SIGMA
UDCA
UDCS
UNII-724L30Y2QR
URSODEOXYCHOLIC ACID
UrSO
Urosdesoxycholate
Urosdesoxycholic acid
Urosiol
Ursacholic Acid
Ursacol
Urso
Urso (TN)
Urso 250
Urso DS
Urso Forte
Ursobilin
Ursochol
Ursodamor
Ursodeoxy cholic acid
Ursodeoxycholate
Ursodeoxycholic acid
Ursodeoxycholic acid (JP15/INN)
Ursodeoxycholic acid, UDCA, Ursosan, Ursofalk, Urso Forte, Udiliv, Ursodiol
Ursodeoxycholicacid
Ursodesoxycholic acid
Ursodexycholate
Ursodexycholic Acid
Ursodexycholic acid
Ursodiol
Ursodiol (USP)
Ursodiol [USAN]
Ursofalk
Ursolvan
Ursosan
chenodeoxycholic acid
ursodeoxycholate
ursodiol
5
TolcaponePhase 1, Phase 216134308-13-74659569
Synonyms:
(3,4-Dihydroxy-5-nitrophenyl)(4-methylphenyl)methanone
(3,4-dihydroxy-5-nitrophenyl)(4-methylphenyl)methanone
(3,4-dihydroxy-5-nitrophenyl)-(4-methylphenyl)methanone
134308-13-7
3,4-Dihydroxy-4'-methyl-5-nitrobenzophenone
3,4-Dihydroxy-5-nitro-4'-methylbenzophenone
3,4-dihydroxy-5'-methyl-5-nitrobenzophenone
4'-Methyl-3,4-dihydroxy-5-nitrobenzophenone
AC-791
AC1NFJIT
BIDD:GT0032
C066340
C07949
C14H11NO5
CCRIS 7904
CHEBI:367825
CHEMBL1324
CID4659569
CPD-7664
D00786
 
DB00323
FT-0082597
HMS2089K14
I14-13303
InChI=1/C14H11NO5/c1-8-2-4-9(5-3-8)13(17)10-6-11(15(19)20)14(18)12(16)7-10/h2-7,16,18H,1H
LS-91226
Methanone,(3,4-dihydroxy-5-nitrophenyl)(4-methylphenyl)
MolPort-003-850-570
NCGC00181767-01
Ro 40-7592
Ro-40-7592
Roche brand of tolcapone
Tasmar
Tasmar (TN)
Tolcapon
Tolcapona
Tolcapone
Tolcapone (JAN/USAN/INN)
Tolcapone [USAN:INN]
Tolcaponum
UNII-CIF6334OLY
6
Hydroxocobalamin23613422-51-011953898, 5460373, 44475014
Synonyms:
13422-51-0
22465-48-1
78091-12-0
8017-22-9
Acti-B12
AlphaRedisol
AlphaRedisol (TN)
Axion
Axlon
Benzimidazolyl ribofuranosyl phosphate deriv.
C08230
C62H85CoN13O15P
CHEBI:27786
CHEMBL1200742
CHEMBL235822
CID11622291
CID11953898
CID5460373
CID6433575
CID6474319
Ciplamin H
Coalpha-[alpha-(5,6-dimethylbenzimidazolyl)]-Cobeta-hydroxocobamide
Cobalex
Cobalin H
Cobinamide dihydroxide dihydrogen phosphate (ester), mono(inner salt), 3'-ester with 5,6-dimethyl-1-alpha-D-ribofuranosylbenzimidazole
Cobinamide hydroxide phosphate 3'-ester with 5,6-dimethyl-1-a-D-ribofuranosylbenzimidazole inner salt
Cobinamide hydroxide phosphate 3'-ester with 5,6-dimethyl-1-alpha-D-ribofuranosylbenzimidazole inner salt
Cobinamide hydroxide phosphate 3'-ester with 5,6-dimethyl-1-alpha-delta-ribofuranosylbenzimidazole inner salt
Cobinamide, Co-hydroxy-, dihydrogen phosphate (ester), inner salt, 3'-ester with (5,6-dimethyl-1-alpha-D-ribofuranosyl-1H-benzimidazole-kappaN3)
Cobinamide, Co-hydroxy-, f-(dihydrogen phosphate), inner salt, 3'-ester with (5,6-dimethyl-1-alpha-D-ribofuranosyl-1H-benzimidazole-kappaN3)
Cobinamide, dihydroxide, dihydrogen phosphate (ester), mono (inner salt), 3'- ester with 5,6-dimethyl-1-alpha-D-ribofuranosylbenzimidazole
Cobinamide, dihydroxide, dihydrogen phosphate (ester), mono(inner salt), 3'-ester with 5,6-dimethyl-1-alpha-D-ribofuranosyl-1H-benzimidazole
Cobinamide, hydroxide, dihydrogen phosphate (ester), inner salt, 3'-ester with 5,6-dimethyl-1-alpha-D-ribofuranosyl-1H-benzimidazole
Codroxomin
Cyanokit
Cyanokit (TN)
D01027
DB00200
Depogamma
Docclan
Docelan
Docelvita
Docevita
Droxomin
Ducobee Hy
Ducobee-Hy
Duradoce
Duralta-12
EINECS 236-533-2
HSDB 3342
HYDROXOCOBALAMIN
Hidroxocobalamina
Hidroxocobalamina [INN-Spanish]
Hydro Cobex
 
Hydrobamine
Hydrocobalamin
Hydrogrisevit
Hydrovit
Hydroxocobalamin
Hydroxocobalamin (JAN/USP/INN)
Hydroxocobalamin Vitamin B12
Hydroxocobalamin [USAN:INN:BAN:JAN]
Hydroxocobalamin acetate
Hydroxocobalamin anhydrous
Hydroxocobalamin monohydrochloride
Hydroxocobalamin(alkaline soln.), OH- replaces CN- in Cyanocobalamin)
Hydroxocobalaminacetat
Hydroxocobalamine
Hydroxocobalamine [INN-French]
Hydroxocobalaminum
Hydroxocobalaminum [INN-Latin]
Hydroxocobalaminum anhydrous
Hydroxocobemine
Hydroxomin
Hydroxy Cobal
Hydroxy vitamin B12
Hydroxycob(lll)alamin
Hydroxycobalamin
Hydroxycobalamine
Hyxobamine
Idrogrisevit
Idrossocobalamina
Idrossocobalamina [DCIT]
LS-54607
Lyovit-H
Neo-Betalin 12
Neo-cytamen
Neo-macrabin
Neo-rojamin
OH-Cbl
OH-Duphar
Ohb12
Oxobemin
Oxolamine (arcum)
Primabalt RP
Redisol-H
S1668_Selleck
Sytobex-H
UNII-Q40X8H422O
Vibeden
Vitadurin
Vitamin B(sub 12a)
Vitamin B-12b
Vitamin B12a
Vitamin B12b
a-(5,6-Dimethylbenzimidazolyl)hydroxocobamide
alpha Cobione
alpha-(5,6-Dimethylbenzimidazolyl)hydroxocobamide
vitamin B-12b
7
Ethanol197164-17-5702
Synonyms:
(C6-C9)Alkyl alcohol
02483_FLUKA
02851_FLUKA
02853_FLUKA
02854_FLUKA
02855_FLUKA
02856_FLUKA
02856_SIAL
02857_FLUKA
02857_SIAL
02858_FLUKA
02858_SIAL
02860_FLUKA
02865_FLUKA
02865_SIAL
02870_FLUKA
02870_SIAL
02875_FLUKA
02877_FLUKA
02878_FLUKA
02882_FLUKA
02882_SIAL
02883_FLUKA
02884_FLUKA
02890_FLUKA
02890_SIAL
02891_FLUKA
02891_SIAL
1-Hydroxyethane
100C.NPA
121182-78-3
187380_ALDRICH
187380_SIAL
24102_RIEDEL
24102_SIAL
24103_RIEDEL
24103_SIAL
24105_RIEDEL
24105_SIAL
24106_RIEDEL
24106_SIAL
24194_RIEDEL
24194_SIAL
245119_ALDRICH
245119_SIAL
270741_ALDRICH
270741_SIAL
277649_ALDRICH
277649_SIAL
2858_SIGMA
29221_FLUKA
32205_RIEDEL
32205_SIAL
32221_RIEDEL
32221_SIAL
32294_RIEDEL
32294_SIAL
34870_SIAL
34963_RIEDEL
39278_FLUKA
40210_ALDRICH
40210_RIEDEL
41322_FLUKA
458600_ALDRICH
458600_SIAL
459828_ALDRICH
459828_SIAL
459836_ALDRICH
459836_SIAL
459844_SIAL
48075_SUPELCO
493511_SIAL
493538_ALDRICH
493538_SIAL
493546_ALDRICH
493546_SIAL
64-17-5
676829_SIAL
68475-56-9
71076-86-3
71329-38-9
8000-16-6
8024-45-1
AC1L19TW
AC1Q31MM
AHD 2000
AI3-01706
ALCOHOL 5% IN D5-W
Absolute Alcohol
Absolute Ethanol
Absolute alcohol
Absolute ethanol
Absolute ethyl alcohol
Aethanol
Aethanol [German]
Aethylalkohol
Alcare Hand Degermer
Alcohol
Alcohol (USP)
Alcohol (ethyl)
Alcohol Anhydrous
Alcohol [USP]
Alcohol anhydrous
Alcohol dehydrated
Alcohol denatured
Alcohol etílico
Alcohol, Absolute
Alcohol, Dehydrated
Alcohol, Diluted
Alcohol, Grain
Alcohol, anhydrous
Alcohol, dehydrated
Alcohol, denatured
Alcohol, diluted
Alcohol, ethyl
Alcohols
Alcohols, C1-3
Alcohols, C30
Alcohols, C6-9
Alcool Ethylique
Alcool Etilico
Alcool ethylique
Alcool etilico
Alcool éthylique
Algrain
Alkohol
Alkohol [German]
Alkoholu Etylowego
Alkoholu etylowego
Aminoethanol
Anhydrol
Anhydrol PM 4085
Anhydrous alcohol
Anhydrous ethanol
Beta-Aminoethanol
Beta-Aminoethyl Alcohol
Beta-Ethanolamine
Beta-Hydroxyethylamine
C00469
C2H5OH
C2H6O
CCRIS 945
CDA 19
CDA 19-200
CHEBI:16236
CHEMBL545
CID702
Caswell No. 426
Caswell No. 430
Colamine
Cologne Spirit
Cologne spirit
Cologne spirits
 
D000431
D00068
DB00898
Dehydrated Ethanol
Dehydrated alcohol
Dehydrated ethanol
Denatured Alcohol
Denatured Alcohol Cd-10
Denatured Alcohol Cd-5
Denatured Alcohol Cd-5a
Denatured Alcohol Sd-1
Denatured Alcohol Sd-13a
Denatured Alcohol Sd-17
Denatured Alcohol Sd-23a
Denatured Alcohol Sd-28
Denatured Alcohol Sd-30
Denatured Alcohol Sd-39b
Denatured Alcohol Sd-39c
Denatured Alcohol Sd-3a
Denatured Alcohol Sd-40m
Denatured Ethanol
Denatured alcohol
Denatured ethanol
Desinfektol EL
Diluted Alcohol
Distilled spirits
E2385_SIGMA
E7023_ALDRICH
E7023_SIAL
E7148_ALDRICH
E7148_SIAL
E7517_SIGMA
EINECS 200-578-6
EINECS 270-649-4
EOH
EOX
ETA
Envision Conditioner Pdd 9020
Esumiru WK 88
EtOH
Etanolo
Etanolo [Italian]
Ethanol (9CI)
Ethanol 200 Proof
Ethanol 200 proof
Ethanol Absolute
Ethanol Absolute Bp
Ethanol Anhydrous
Ethanol Extra Pure
Ethanol Vapor
Ethanol [JAN]
Ethanol solution
Ethanol, Silent Spirit
Ethanol, undenatured
Ethanolum anhydricum
Ethicap
Ethyl Alcohol
Ethyl Alcohol & Water, 10%
Ethyl Alcohol & Water, 20%
Ethyl Alcohol & Water, 30%
Ethyl Alcohol & Water, 40%
Ethyl Alcohol & Water, 5%
Ethyl Alcohol & Water, 50%
Ethyl Alcohol & Water, 60%
Ethyl Alcohol & Water, 70%
Ethyl Alcohol & Water, 80%
Ethyl Alcohol & Water, 95%
Ethyl Alcohol & Water, 96%
Ethyl Alcohol Anhydrous
Ethyl Alcohol, Anhydrous
Ethyl Alcohol, Denatured
Ethyl Hydrate
Ethyl Hydroxide
Ethyl alc
Ethyl alcohol
Ethyl alcohol anhydrous
Ethyl alcohol in alcoholic beverages
Ethyl alcohol usp
Ethyl hydrate
Ethyl hydroxide
Ethylalcohol
Ethylalcohol [Dutch]
Ethylol
Ethylolamine
Ethyloxy Group
Etylowy alkohol
FEMA No. 2419
FEMA Number 2419
Fermentation alcohol
Glycinol
Grain alcohol
HSDB 531
HSDB 82
HYDROXYETHYL GROUP
Hinetoless
Hydroxyethane
I14-12648
IMS 99
Infinity Pure
Jaysol
Jaysol S
LS-1539
LTBB002977
Lux
Methylated Spirit Mineralised
Methylated spirit
Methylcarbinol
MolPort-001-785-844
Molasses alcohol
NCGC00091458-01
NCI-C03134
NSC 85228
NSC85228
Oxydimethylene Group
Potato alcohol
Punctilious ethyl alcohol
Pyro
QMHAIh@
Reagent Alcohol
Ru-Tuss Expectorant
SDA 3A
SDA 40-2
SDM No. 37
SY Fresh M
Sekundasprit
Silent spirit
Spirit
Spirits of wine
Spiritus vini
Spirt
Synasol
Tecsol
Tecsol C
Thanol
Thiofaco M-50
UNII-3K9958V90M
USAF EK-1597
Undenatured Ethanol
WLN: Q2
absolute alcohol
alcohol
alcohol etilico
bmse000297
etanol
ethanol
ethyl alcohol
grain alcohol
nchem.651-comp3c
nchembio.552-comp10
nchembio.94-comp20
spiritus vini
Äthanol
Äthylalkohol
éthanol
8Vitamin B12Nutraceutical237
9
MethylcobalaminNutraceutical23713422-55-4
Synonyms:
Algobaz
Co-Methylcobalamin
Co-methylcobalamin
Hitocobamin M
MeCbl
Mecobalamin
Methycobal
 
Methyl cobalamine
Methyl vitamin B12
Methyl-5,6-dimethylbenzimidazolylcobalamin
Methyl-B12
Methylcob(III)alamin
Methylcobalamin
Methylcobaz
mecobalamin
methyl(III)cobalamin
10
cobalaminNutraceutical23713408-78-16438156
Synonyms:
5,6-Dimethyl-1-a-D-ribofuranosyl-1H-benzimidazole
5,6-Dimethyl-1-a-D-ribofuranosylbenzimidazole
5,6-Dimethyl-1-alpha-delta-ribofuranosyl-1H-benzimidazole
5,6-Dimethyl-1-alpha-delta-ribofuranosylbenzimidazole
Cob(III)alamin
Cobalamin (III)
Cobalamine
 
Cobinamide ion(1+) dihydrogen phosphate (ester) inner salt 3'-ester
Cobinamide ion(1+) dihydrogen phosphate (ester) inner salt 3'-ester with 5,6-dimethyl-1-alpha-delta-ribofuranosyl-1H-benzimidazole
Hydroxomin
Rubivite
Rubratope-57
Rubratope-60
Ruvite
Vitamin B12
11
CyanocobalaminNutraceutical23768-19-944176380
Synonyms:
Anacobin
Bedoz
Berocca PN
Berubigen
Betalin 12
Betalin 12 Crystalline
Betaline-12
Betolvex
Bevidox
Bevidox concentrate
Biocobalamine
Byladoce
Cabadon m
Cernevit-12
Cobadoce forte
Cobalin
Cobavite
Cobex
Cobolin-M
Copharvit 5000
Covit
Crystamin
Crystamine
Crysti-12
Crystimin
Crystwel
Cyano-B12
Cyanobalamin concentrate
Cyanocob(III)alamin
Cyanocobalamin (JP15/USP)
Cyanocobalamin Co 57 Schilling Test Kit
Cyanocobalamine
Cyanocobalmin
Cyanoject
Cycobemin
Cycolamin
Cykobemin
Cykobeminet
Cyomin
Cyredin
Cytacon
Cytamen
Cytobion
Depinar
Dicopac
Dicopac Kit
Dimethylbenzimidazoylcobamide
Distivit
Docemine
Docibin
Docivit
Dodecabee
Dodecavite
Dodex
Duodecibin
Embiol
Emociclina
Eritrone
Erycytol
 
Erythrotin
Euhaemon
Extrinsic factor
Factor II
Fermin
Fresmin
Hemomin
Hepagon
Hepavis
Hepcovite
Hylugel plus
Infuvite Pediatric
Lactobacillus lactis dorner factor
M.V.I. Pediatric
Macrabin
Megabion
Megalovel
Milbedoce
Millevit
Nagravon
Nascobal
Nascobal (TN)
Neuroforte-R
Normocytin
Novidroxin
Pernaemon
Pernaevit
Pernipuron
Plecyamin
Poyamin
Primabalt
Rebramin
Redamina
Redisol
Rhodacryst
Rubesol
Rubivite
Rubramin
Rubramin PC
Rubratope-57 Kit
Rubratope-60 Kit
Rubripca
Rubrocitol
Ruvite
Shovite
Sytobex
Vi-Twel
Vibal
Vibalt
Vibisone
Virubra
Vita-rubra
Vitabee 12
Vitamin B12
Vitamin B12 Preparation
Vitamin B12 complex
Vitaped
Vitarubin
Vitral
vitamine b12

Interventional clinical trials:

(show all 31)
idNameStatusNCT IDPhase
1Safety and Efficacy Study of Fx-1006A in Patients With Familial AmyloidosisCompletedNCT00409175Phase 2, Phase 3
2The Effect of Diflunisal on Familial AmyloidosisCompletedNCT00294671Phase 2, Phase 3
3An Extension of Study Fx-005 Evaluating Long-Term Safety And Clinical Outcomes Of Fx-1006A In Patients With Transthyretin Amyloid PolyneuropathyCompletedNCT00791492Phase 2, Phase 3
4The Effect Of Tafamidis For The Transthyretin Amyloid Polyneuropathy Patients With V30M Or Non-V30M TransthyretinCompletedNCT01435655Phase 3
5Safety And Efficacy Evaluation Of Fx-1006A In Subjects With Transthyretin AmyloidosisRecruitingNCT00925002Phase 3
6Efficacy and Safety of IONIS-TTR Rx in Familial Amyloid PolyneuropathyActive, not recruitingNCT01737398Phase 3
7APOLLO: The Study of an Investigational Drug, Patisiran (ALN-TTR02), for the Treatment of Transthyretin (TTR)-Mediated AmyloidosisActive, not recruitingNCT01960348Phase 3
8ENDEAVOUR: Phase 3 Multicenter Study of Revusiran (ALN-TTRSC) in Patients With Transthyretin (TTR) Mediated Familial Amyloidotic Cardiomyopathy (FAC)Active, not recruitingNCT02319005Phase 3
9Open-Label Extension Assessing Long Term Safety and Efficacy of IONIS-TTR Rx in Familial Amyloid Polyneuropathy (FAP)Enrolling by invitationNCT02175004Phase 3
10The 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 invitationNCT02510261Phase 3
11Safety and Efficacy Study of Doxycycline/UrsoDeoxyCholicAcid on Disease Progression in ATTR AmyloidosisCompletedNCT02016365Phase 2
12Safety, Efficacy and Pharmacokinetics of Doxycycline Plus Tauroursodeoxycholic Acid in Transthyretin AmyloidosisCompletedNCT01171859Phase 2
13The Effects of Fx-1006A on Transthyretin Stabilization and Clinical Outcome Measures in Patients With Non-V30M Transthyretin AmyloidosisCompletedNCT00630864Phase 2
14Study of SOM0226 in Familial Amyloid PolyneuropathyRecruitingNCT02191826Phase 1, Phase 2
15The 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 TransplantActive, not recruitingNCT02595983Phase 2
16Tolerability and Efficacy of a Combination of Doxycycline and TUDCA in Patients With Transthyretin Amyloid CardiomyopathyActive, not recruitingNCT01855360Phase 1, Phase 2
17The 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)Active, not recruitingNCT01961921Phase 2
18Safety and Effect of Doxycycline in Patients With AmyloidosisActive, not recruitingNCT01677286Phase 2
19The Effect of an Antisense Oligonucleotide to Lower Transthyretin (TTR) Levels on the Progression of -Wild-type TTR Involving the HeartWithdrawnNCT02627820Phase 2
20A Safety and Tolerability Study of an Investigational Drug, ALN-TTRSC02, in Healthy SubjectsRecruitingNCT02797847Phase 1
21Burden of Disease Study In Patients With Transthyretin Familial Amyloidosis Polyneuropathy (TTR-FAP) orTransthyretin Cardiomyopathy (TTR-CM) And CaregiversCompletedNCT01604122
22The Effect of Diflunisal on Familial Transthyretin AmyloidosisCompletedNCT01432587
23Screening for the Transthyretin-Related Familial Amyloidotic PolyneuropathyCompletedNCT01705626
24DISCOVERY: A Study Examining the Prevalence of TTR Mutations in Subjects Suspected of Having Cardiac AmyloidosisCompletedNCT02252653
25Carpal Tunnel Syndrome and Amyloid CardiomyopathyRecruitingNCT02792790
26Transthyretin-Associated Amyloidoses Outcome Survey (THAOS)RecruitingNCT00628745
27Prevalence and Post-surgical Outcomes of CARdiac Wild-type TransthyrEtin amyloidoSIs in Elderly Patients With Aortic steNosis Referred for Valvular Replacement.RecruitingNCT02260466
28Biomarker for Patients With Transthyretin-Related Familial Amyloidotic PolyneuropathyRecruitingNCT02713880
29Study of Systemic Amyloidosis Presentation and PrognosisRecruitingNCT00004374
30Prevalence of Transthyretin Amyloidosis in Hypertrophic CardiomyopathyActive, not recruitingNCT01623245
31Vyndaqel Drug Use Investigation (Regulatory Post Marketing Commitment Plan)Active, not recruitingNCT02146378

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

Genetic Tests for Amyloidosis, Hereditary, Transthyretin-Related

About this section

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

id Genetic test Affiliating Genes
1 Familial Transthyretin Amyloidosis23 TTR

Anatomical Context for Amyloidosis, Hereditary, Transthyretin-Related

About this section

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

34
Heart, Kidney, Eye, Spinal cord, Brain, Liver, Bone

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

About this section

Publications for Amyloidosis, Hereditary, Transthyretin-Related

About this section

Variations for Amyloidosis, Hereditary, Transthyretin-Related

About this section

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

68 (show all 73)
id Symbol AA change Variation ID SNP ID
1TTRp.Cys30ArgVAR_007547rs121918083
2TTRp.Asp38GluVAR_007548
3TTRp.Asp38GlyVAR_007549rs121918098
4TTRp.Val40IleVAR_007550rs121918093
5TTRp.Pro44SerVAR_007551rs11541790
6TTRp.Val50AlaVAR_007552rs79977247
7TTRp.Val50LeuVAR_007553rs28933979
8TTRp.Val50MetVAR_007554rs28933979
9TTRp.Phe53IleVAR_007555rs121918068
10TTRp.Phe53LeuVAR_007556rs121918068
11TTRp.Ala56ProVAR_007557rs121918077
12TTRp.Glu62GlyVAR_007558rs11541796
13TTRp.Ala65AspVAR_007559rs730881169
14TTRp.Ala65ThrVAR_007560rs121918078
15TTRp.Gly67AlaVAR_007561rs121918090
16TTRp.Gly67ArgVAR_007562rs387906523
17TTRp.Gly67ValVAR_007563
18TTRp.Thr69AlaVAR_007564rs121918081
19TTRp.Ser70IleVAR_007565rs121918080
20TTRp.Ser70ArgVAR_007566rs386134269
21TTRp.Ser72ProVAR_007567
22TTRp.Glu74GlyVAR_007568
23TTRp.Leu75ProVAR_007569rs121918079
24TTRp.Leu78HisVAR_007570rs121918069
25TTRp.Leu78ArgVAR_007571rs121918069
26TTRp.Thr79LysVAR_007572rs730881163
27TTRp.Thr80AlaVAR_007573rs121918070
28TTRp.Glu81LysVAR_007574rs121918086
29TTRp.Phe84LeuVAR_007575rs121918091
30TTRp.Ile88LeuVAR_007576rs121918085
31TTRp.Tyr89HisVAR_007577rs121918100
32TTRp.Lys90AsnVAR_007578rs267607160
33TTRp.Val91AlaVAR_007579rs121918084
34TTRp.Ile93ValVAR_007580
35TTRp.Ser97TyrVAR_007582rs121918071
36TTRp.Ile104AsnVAR_007583
37TTRp.Ile104SerVAR_007584rs121918072
38TTRp.Glu109GlnVAR_007585rs121918082
39TTRp.Ala111SerVAR_007587
40TTRp.Ala117GlyVAR_007588rs121918087
41TTRp.Ile127ValVAR_007592rs121918089
42TTRp.Leu131MetVAR_007594rs121918073
43TTRp.Tyr134CysVAR_007595rs121918075
44TTRp.Tyr136SerVAR_007596rs730881167
45TTRp.Val142IleVAR_007600rs28933980
46TTRp.Val48MetVAR_010658
47TTRp.Glu109LysVAR_010659
48TTRp.Leu32ProVAR_038959rs121918094
49TTRp.Ser43AsnVAR_038961
50TTRp.Val50GlyVAR_038962rs79977247
51TTRp.Phe53ValVAR_038964
52TTRp.Arg54ThrVAR_038965
53TTRp.Lys55AsnVAR_038966
54TTRp.Asp58AlaVAR_038967
55TTRp.Asp58ValVAR_038968
56TTRp.Trp61LeuVAR_038969
57TTRp.Glu62AspVAR_038970rs11541796
58TTRp.Phe64SerVAR_038971rs104894665
59TTRp.Ala65SerVAR_038972
60TTRp.Gly67GluVAR_038973
61TTRp.Thr69IleVAR_038974
62TTRp.Gly73GluVAR_038975rs121918097
63TTRp.Glu74LysVAR_038976
64TTRp.Leu75GlnVAR_038977
65TTRp.Glu81GlyVAR_038978
66TTRp.Tyr98PheVAR_038979
67TTRp.Ile104ThrVAR_038980
68TTRp.Ala117SerVAR_038982rs267607161
69TTRp.Thr126AsnVAR_038984
70TTRp.Ile127MetVAR_038985
71TTRp.Ala140SerVAR_038986
72TTRp.Val142AlaVAR_038987
73TTRp.Asn144SerVAR_038988rs144965179

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

5 (show all 41)
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 variantLikely pathogenic, Pathogenicrs121918070GRCh37Chr 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.185A> G (p.Glu62Gly)single nucleotide variantPathogenicrs11541796GRCh37Chr 18, 29172974: 29172974
11TTRNM_000371.3(TTR): c.210T> G (p.Ser70Arg)single nucleotide variantPathogenicrs121918076GRCh37Chr 18, 29175092: 29175092
12TTRNM_000371.3(TTR): c.149T> C (p.Val50Ala)single nucleotide variantPathogenicrs79977247GRCh37Chr 18, 29172938: 29172938
13TTRNM_000371.3(TTR): c.166G> C (p.Ala56Pro)single nucleotide variantPathogenicrs121918077GRCh37Chr 18, 29172955: 29172955
14TTRNM_000371.3(TTR): c.233T> G (p.Leu78Arg)single nucleotide variantPathogenicrs121918069GRCh37Chr 18, 29175115: 29175115
15TTRNM_000371.3(TTR): c.199G> C (p.Gly67Arg)single nucleotide variantPathogenicrs387906523GRCh37Chr 18, 29172988: 29172988
16TTRNM_000371.3(TTR): c.133G> A (p.Ala45Thr)single nucleotide variantPathogenicrs104894664GRCh37Chr 18, 29172922: 29172922
17TTRNM_000371.3(TTR): c.224T> C (p.Leu75Pro)single nucleotide variantPathogenicrs121918079GRCh37Chr 18, 29175106: 29175106
18TTRNM_000371.3(TTR): c.209G> T (p.Ser70Ile)single nucleotide variantPathogenicrs121918080GRCh37Chr 18, 29175091: 29175091
19TTRNM_000371.3(TTR): c.148G> C (p.Val50Leu)single nucleotide variantPathogenicrs28933979GRCh37Chr 18, 29172937: 29172937
20TTRNM_000371.3(TTR): c.205A> G (p.Thr69Ala)single nucleotide variantPathogenicrs121918081GRCh37Chr 18, 29175087: 29175087
21TTRNM_000371.3(TTR): c.325G> C (p.Glu109Gln)single nucleotide variantPathogenicrs121918082GRCh37Chr 18, 29175207: 29175207
22TTRNM_000371.3(TTR): c.270A> C (p.Lys90Asn)single nucleotide variantPathogenicrs267607160GRCh37Chr 18, 29175152: 29175152
23TTRNM_000371.3(TTR): c.88T> C (p.Cys30Arg)single nucleotide variantPathogenicrs121918083GRCh37Chr 18, 29172877: 29172877
24TTRNM_000371.3(TTR): c.272T> C (p.Val91Ala)single nucleotide variantPathogenicrs121918084GRCh37Chr 18, 29175154: 29175154
25TTRNM_000371.3(TTR): c.262A> T (p.Ile88Leu)single nucleotide variantPathogenicrs121918085GRCh37Chr 18, 29175144: 29175144
26TTRNM_000371.3(TTR): c.241G> A (p.Glu81Lys)single nucleotide variantPathogenicrs121918086GRCh37Chr 18, 29175123: 29175123
27TTRNM_000371.3(TTR): c.350C> G (p.Ala117Gly)single nucleotide variantPathogenicrs121918087GRCh37Chr 18, 29178544: 29178544
28TTRNM_000371.3(TTR): c.379A> G (p.Ile127Val)single nucleotide variantPathogenicrs121918089GRCh37Chr 18, 29178573: 29178573
29TTRNM_000371.3(TTR): c.200G> C (p.Gly67Ala)single nucleotide variantPathogenicrs121918090GRCh37Chr 18, 29172989: 29172989
30TTRNM_000371.3(TTR): c.250T> C (p.Phe84Leu)single nucleotide variantPathogenicrs121918091GRCh37Chr 18, 29175132: 29175132
31TTRNM_000371.3(TTR): c.118G> A (p.Val40Ile)single nucleotide variantPathogenicrs121918093GRCh37Chr 18, 29172907: 29172907
32TTRNM_000371.3(TTR): c.157T> C (p.Phe53Leu)single nucleotide variantPathogenicrs121918068GRCh37Chr 18, 29172946: 29172946
33TTRNM_000371.3(TTR): c.95T> C (p.Leu32Pro)single nucleotide variantPathogenicrs121918094GRCh37Chr 18, 29172884: 29172884
34TTRNM_000371.3(TTR): c.371G> A (p.Arg124His)single nucleotide variantPathogenicrs121918095GRCh37Chr 18, 29178565: 29178565
35TTRNM_000371.3(TTR): c.199G> A (p.Gly67Arg)single nucleotide variantPathogenicrs387906523GRCh37Chr 18, 29172988: 29172988
36TTRNM_000371.3(TTR): c.424_426delGTC (p.Val142del)deletionLikely pathogenic, Pathogenicrs121918096GRCh37Chr 18, 29178618: 29178620
37TTRNM_000371.3(TTR): c.191T> C (p.Phe64Ser)single nucleotide variantPathogenicrs104894665GRCh37Chr 18, 29172980: 29172980
38TTRNM_000371.3(TTR): c.113A> G (p.Asp38Gly)single nucleotide variantPathogenicrs121918098GRCh37Chr 18, 29172902: 29172902
39TTRNM_000371.3(TTR): c.349G> T (p.Ala117Ser)single nucleotide variantPathogenicrs267607161GRCh37Chr 18, 29178543: 29178543
40TTRNM_000371.3(TTR): c.208A> C (p.Ser70Arg)single nucleotide variantLikely pathogenicrs386134269GRCh37Chr 18, 29175090: 29175090
41TTRNM_000371.3(TTR): c.210T> A (p.Ser70Arg)single nucleotide variantLikely pathogenic, 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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GO Terms for genes affiliated with Amyloidosis, Hereditary, Transthyretin-Related

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

idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:00725629.9APOA1, GSN
2extracellular regionGO:00055768.6APOA1, GSN, LYZ, TTR
3extracellular spaceGO:00056158.4APOA1, GSN, LYZ, TTR
4extracellular exosomeGO:00700627.9APOA1, GSN, LYZ, PTPN13, TTR

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

idNameGO IDScoreTop Affiliating Genes
1cholesterol metabolic processGO:00082039.4APOA1, MBTPS2
2retinoid metabolic processGO:00015239.3APOA1, TTR
3cellular protein metabolic processGO:00442678.7APOA1, GSN, LYZ, TTR

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

idNameGO IDScoreTop Affiliating Genes
1identical protein bindingGO:00428029.1APOA1, LYZ, TTR

Sources for Amyloidosis, Hereditary, Transthyretin-Related

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet