MCID: AMY087
MIFTS: 40

Amyloidosis, Hereditary, Transthyretin-Related malady

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

Aliases & Classifications for Amyloidosis, Hereditary, Transthyretin-Related

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

Name: Amyloidosis, Hereditary, Transthyretin-Related 49 10 11 45 65
Transthyretin Amyloidosis 10 45 23 12 67
Familial Transthyretin Amyloidosis 10 21 45 22
Familial Amyloid Polyneuropathy 10 45 67
Type I Familial Amyloid Polyneuropathy 23 47
Transthyretin Amyloid Polyneuropathy 45 67
Transthyretin Amyloid Neuropathy 45 67
Ttr Amyloid Neuropathy 45 67
Hereditary Oculoleptomeningeal Amyloid Angiopathy 65
Transthyretin-Related Hereditary Amyloidosis 10
Familial Amyloid Neuropathy, Portuguese Type 65
Hereditary Amyloidosis Transthyretin-Related 67
Danish Type Familial Amyloid Cardiomyopathy 65
Portuguese Type Familial Amyloid Neuropathy 23
Type Ii Familial Amyloid Polyneuropathy 23
Familial Amyloid Polyneuropathy Type Ii 67
Familial Amyloid Polyneuropathy Type I 67
Portuguese Polyneuritic Amyloidosis 23
Meningocerebrovascular Amyloidosis 67
Amyloidosis, Transthyretin-Related 67
 
Amyloid Polyneuropathy, Swiss Type 65
Amyloidosis Transthyretin Related 45
Familial Amyloid Polyneuropathies 47
Swiss Type Amyloid Polyneuropathy 23
Oculoleptomeningeal Amyloidosis 67
Amyloid Neuropathies, Familial 65
Corino De Andrade's Disease 10
Leptomeningeal Amyloidosis 67
Senile Cardiac Amyloidosis 65
Familial Ttr Amyloidosis 21
Amyloid Polyneuropathy 67
Amyloidosis Ohio Type 67
Amyloid Neuropathies 65
Amyloidosis Type 7 67
Ttr Amyloidosis 10
Amyloidosis Vii 67
Amyloidosis I 67
Amyl-Ttr 67
Attr 67
Fap 67

Characteristics:

HPO:

61
amyloidosis, hereditary, transthyretin-related:
Onset and clinical course: phenotypic variability, progressive, adult onset
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 105210
Disease Ontology10 DOID:0050638
MeSH36 D028226
UMLS65 C0268407, C2751492, C0206245 C0342613, C0268384, C0268386, C0206247, C0342609, more

Summaries for Amyloidosis, Hereditary, Transthyretin-Related

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OMIM:49 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 amyloid polyneuropathy type 1 and familial amyloid polyneuropathy type ii, and has symptoms including amyloidosis, paraplegia and amyloid deposition in the vitreous humor. An important gene associated with Amyloidosis, Hereditary, Transthyretin-Related is TTR (Transthyretin), and among its related pathways is FOXA2 and FOXA3 transcription factor networks. Affiliated tissues include heart, brain and spinal cord.

Disease Ontology:10 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:23 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:45 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:67 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 Al Amyloidosis
Amyloidosis Aa Hereditary Amyloidosis
Primary Localized Amyloidosis Ah Amyloidosis
Acys Amyloidosis

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

(show top 50)    (show all 137)
idRelated DiseaseScoreTop Affiliating Genes
1familial amyloid polyneuropathy type 112.5
2familial amyloid polyneuropathy type ii12.5
3familial oculoleptomeningeal amyloidosis12.5
4leptomeningeal amyloidosis12.5
5wild type attr amyloidosis12.4
6familial amyloidosis, finnish type11.8
7amyloidosis, finnish type11.7
8lattice corneal dystrophy type ii11.7
9agel amyloidosis11.7
10lattice corneal dystrophy11.5
11attrv30m amyloidosis11.5
12attrv122i amyloidosis11.3
13hereditary amyloidosis10.7
14pituitary tumors10.4
15familial amyloid cardiomyopathy10.4
16polycystic liver disease10.3
17liver disease10.3
18colorectal cancer10.3
19neuropathy10.3
20bronchogenic cyst10.2
21myocardial infarction10.2
22lymphoma10.2
23lethal congenital contracture syndrome 110.2GSN, TTR
24hemangioma10.1
25scoliosis10.1
26lymphocytic choriomeningitis10.1
27multiple chemical sensitivity10.1
28cavernous hemangioma10.1
29breast cancer10.1
30cystinosis10.1
31tuberculosis10.1
32septicemic plague10.1GSN, TTR
33macular keratitis10.1PMP22, TTR
34dyshormonogenic goiter10.1GSN, PMP22
35common peroneal nerve lesion10.1PMP22, TTR
36gluten allergy10.1MBTPS2, TTR
37amyloidosis beta2m10.1APOA1, TTR
38adult endodermal sinus tumor10.1APOA1, TTR
39chronic polyneuropathy10.0PMP22, TTR
40macular degeneration, age-related, 1110.0GSN, TTR
41keratosis palmoplantaris adenocarcinoma of the colon10.0MBTPS2, PMP22
42hepatocellular carcinoma10.0
43coronary artery disease10.0
44obesity10.0
45nail-patella syndrome10.0
46multiple myeloma10.0
47pick disease10.0
48digeorge syndrome10.0
49focal dermal hypoplasia10.0
50rett syndrome10.0

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

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 34)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
DiflunisalapprovedPhase 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
2Peripheral Nervous System AgentsPhase 2, Phase 318510
3AnalgesicsPhase 2, Phase 39358
4Analgesics, Non-NarcoticPhase 2, Phase 35184
5Cyclooxygenase InhibitorsPhase 2, Phase 32225
6Anti-Inflammatory AgentsPhase 2, Phase 38478
7Anti-Inflammatory Agents, Non-SteroidalPhase 2, Phase 33549
8Antirheumatic AgentsPhase 2, Phase 38496
9
Tauroursodeoxycholic acidapproved, investigationalPhase 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
UR 906
Ursodeoxycholyltaurine
10
Ursodeoxycholic acidapproved, investigationalPhase 278128-13-231401
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 Tablets, 250 mg
Ursodiol Tablets, 500 mg
Ursodiol [USAN]
Ursofalk
Ursolvan
Ursosan
chenodeoxycholic acid
ursodeoxycholate
ursodiol
11
Doxycyclineapproved, investigationalPhase 2, Phase 1219564-25-054671203, 5281011
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
Adoxa
Alodox
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
Doryx
Dossiciclina
Dossiciclina [DCIT]
Doxcycline anhydrous
Doxiciclina
Doxiciclina [INN-Spanish]
Doxiciclina [Italian]
Doxitard
Doxivetin
Doxy 100
Doxy-Caps
Doxy-Puren
Doxy-Tabs
Doxycen
Doxychel
Doxychel (TN)
Doxycin
Doxycyclin
Doxycycline
Doxycycline (200mg/day) or Placebo
Doxycycline (INN)
 
Doxycycline (TN)
Doxycycline (anhydrous)
Doxycycline (internal use)
Doxycycline Hyclate
Doxycycline Monohydrate
Doxycycline anhydrous
Doxycycline hyclate
Doxycycline hydrochloride
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)
Morgidox
NCGC00161602-01
NCGC00161602-03
NCGC00161602-04
NCGC00167961-01
NCGC00179395-01
NINDS_000345
NSC633557
Novo-Doxylin
Nu-Doxycycline
Ocudox
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 Monohydrate
Vibramycin Novum
Vibramycine
Vibravenos
Vivox (*Hyclate)
alpha-6-Deoxy-5-hydroxytetracycline
alpha-6-Deoxyoxytetracycline
alpha-Doxycycline
doxycycline
12Antiviral AgentsPhase 2, Phase 18071
13Gastrointestinal AgentsPhase 2, Phase 16401
14Taurochenodeoxycholic AcidPhase 2, Phase 111
15Antiprotozoal AgentsPhase 2, Phase 11730
16Anti-Bacterial AgentsPhase 2, Phase 19140
17Anti-Infective AgentsPhase 2, Phase 117220
18Antiparasitic AgentsPhase 2, Phase 11854
19AntimalarialsPhase 2, Phase 11058
20Catechol O-Methyltransferase InhibitorsPhase 1, Phase 283
21Antiparkinson AgentsPhase 1, Phase 21312
22Liver ExtractsPhase 23572
23CatecholNutraceuticalPhase 1, Phase 293
24
Hydroxocobalaminapproved22713422-51-011953898, 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 monohydrochloride
Hydroxocobalamin(alkaline soln.), OH- replaces CN- in Cyanocobalamin)
Hydroxocobalaminacetat
Hydroxocobalamine
Hydroxocobalamine [INN-French]
Hydroxocobalaminum
Hydroxocobalaminum [INN-Latin]
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
25
Cyanocobalaminapproved, nutraceutical22768-19-944176380
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
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
26Vitamins3857
27Vitamin B Complex2847
28Vitamin B 12227
29Antibodies4477
30Immunoglobulins4477
31
32
CobalaminNutraceutical22713408-78-16438156
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
33Vitamin B12Nutraceutical227
34
MethylcobalaminNutraceutical22613422-55-4
Synonyms:
Algobaz
Co-Methylcobalamin
Hitocobamin M
MeCbl
Mecobalamin
Methycobal
 
Methyl cobalamine
Methyl vitamin B12
Methyl-5,6-dimethylbenzimidazolylcobalamin
Methyl-B12
Methylcob(III)alamin
Methylcobalamin
Methylcobaz

Interventional clinical trials:

(show all 28)
idNameStatusNCT IDPhase
1Safety and Efficacy Study of Fx-1006A in Patients With Familial AmyloidosisCompletedNCT00409175Phase 2, Phase 3
2An Extension of Study Fx-005 Evaluating Long-Term Safety And Clinical Outcomes Of Fx-1006A In Patients With Transthyretin Amyloid PolyneuropathyCompletedNCT00791492Phase 2, Phase 3
3The Effect of Diflunisal on Familial AmyloidosisCompletedNCT00294671Phase 2, Phase 3
4The Effect Of Tafamidis For The Transthyretin Amyloid Polyneuropathy Patients With V30M Or Non-V30M TransthyretinCompletedNCT01435655Phase 3
5ENDEAVOUR: Phase 3 Multicenter Study of Revusiran (ALN-TTRSC) in Patients With Transthyretin (TTR) Mediated Familial Amyloidotic Cardiomyopathy (FAC)RecruitingNCT02319005Phase 3
6Safety And Efficacy Evaluation Of Fx-1006A In Subjects With Transthyretin AmyloidosisRecruitingNCT00925002Phase 3
7Efficacy and Safety of IONIS-TTR Rx in Familial Amyloid PolyneuropathyActive, not recruitingNCT01737398Phase 3
8APOLLO: The Study of an Investigational Drug, Patisiran (ALN-TTR02), for the Treatment of Transthyretin (TTR)-Mediated AmyloidosisActive, not recruitingNCT01960348Phase 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, Efficacy and Pharmacokinetics of Doxycycline Plus Tauroursodeoxycholic Acid in Transthyretin AmyloidosisCompletedNCT01171859Phase 2
12Safety and Efficacy Study of Doxycycline/UrsoDeoxyCholicAcid on Disease Progression in ATTR AmyloidosisCompletedNCT02016365Phase 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 TransplantRecruitingNCT02595983Phase 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 HeartNot yet recruitingNCT02627820Phase 2
20Burden of Disease Study In Patients With Transthyretin Familial Amyloidosis Polyneuropathy (TTR-FAP) orTransthyretin Cardiomyopathy (TTR-CM) And CaregiversCompletedNCT01604122
21The Effect of Diflunisal on Familial Transthyretin AmyloidosisCompletedNCT01432587
22Screening for the Transthyretin-Related Familial Amyloidotic PolyneuropathyCompletedNCT01705626
23Prevalence and Post-surgical Outcomes of CARdiac Wild-type TransthyrEtin amyloidoSIs in Elderly Patients With Aortic steNosis Referred for Valvular Replacement.RecruitingNCT02260466
24Transthyretin-Associated Amyloidoses Outcome Survey (THAOS)RecruitingNCT00628745
25Biomarker for Patients With Transthyretin-Related Familial Amyloidotic PolyneuropathyRecruitingNCT02713880
26Study of Systemic Amyloidosis Presentation and PrognosisRecruitingNCT00004374
27Prevalence of Transthyretin Amyloidosis in Hypertrophic CardiomyopathyActive, not recruitingNCT01623245
28DISCOVERY: A Study Examining the Prevalence of TTR Mutations in Subjects Suspected of Having Cardiac AmyloidosisActive, not recruitingNCT02252653

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 Amyloidosis22 TTR

Anatomical Context for Amyloidosis, Hereditary, Transthyretin-Related

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

33
Heart, Brain, Spinal cord, Eye, Kidney, Liver, 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:

67 (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:

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

idSuper pathwaysScoreTop Affiliating Genes
19.5APOA1, TTR

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

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

idNameGO IDScoreTop Affiliating Genes
1retinoid metabolic processGO:00015239.5APOA1, TTR
2phototransduction, visible lightGO:00076039.5APOA1, TTR

Sources for Amyloidosis, Hereditary, Transthyretin-Related

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet