MCID: HRD039
MIFTS: 46

Hereditary Amyloidosis malady

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

Aliases & Classifications for Hereditary Amyloidosis

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Aliases & Descriptions for Hereditary Amyloidosis:

Name: Hereditary Amyloidosis 48
Amyloidosis Hereditary 48 27 50
Amyloidosis, Hereditary 68
 
Amyloidosis, Familial 68
Amyloidosis Familial 50
Familial Amyloidosis 48

Classifications:



Summaries for Hereditary Amyloidosis

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NIH Rare Diseases:48 Hereditary amyloidosis refers to a group of inherited conditions that make up one of the subtypes of amyloidosis. hereditary amyloidosis is characterized by the deposit of an abnormal protein called amyloid in multiple organs of the body where it should not be, which causes disruption of organ tissue structure and function. in hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system. while symptoms of hereditary amyloidosis may appear in childhood, most individuals do not experience symptoms until adulthood. there are many types of hereditary amyloidosis associated with different gene mutations and abnormal proteins. the most common type of hereditary amyloidosis is transthyretin amyloidosis (attr), a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. other examples of hereditary amyloidosis include, but are not limited to, apolipoprotein ai amyloidosis (a apoai), gelsolin amyloidosis (a gel), lysozyme amyloidosis (a lys), cystatin c amyloidosis (a cys), fibrinogen aα-chain amyloidosis (a fib), and apolipoprotein aii amyloidosis (a apoaii). most types of hereditary amyloidosis are inherited in an autosomal dominant manner. treatment is focused on addressing symptoms of organ damage and slowing down the production of amyloid when possible through methods such as liver transplants.  last updated: 7/19/2016

MalaCards based summary: Hereditary Amyloidosis, also known as amyloidosis hereditary, is related to familial amyloidosis, finnish type and amyloidosis, hereditary, transthyretin-related. An important gene associated with Hereditary Amyloidosis is TTR (Transthyretin), and among its related pathways are FOXA2 and FOXA3 transcription factor networks and Statin Pathway. Affiliated tissues include liver, kidney and heart, and related mouse phenotypes are endocrine/exocrine gland and cardiovascular system.

Wikipedia:71 Amyloids are aggregates of proteins that become folded into a shape that allows many copies of that... more...

Related Diseases for Hereditary Amyloidosis

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Diseases in the Amyloidosis family:

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

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

(show all 44)
idRelated DiseaseScoreTop Affiliating Genes
1familial amyloidosis, finnish type12.1
2amyloidosis, hereditary, transthyretin-related11.6
3amyloidosis, familial visceral10.9
4amyloidosis, finnish type10.8
5amyloidosis10.4
6arthrogryposis, lethal, with anterior horn cell disease10.2GSN, TTR
7cellulitis10.2GSN, TTR
8penis agenesis10.2GSN, TTR
9familial progressive cardiac conduction defect10.1APOA1, APOA2
10tyrosinemia, type ii10.1APOA1, APOA2
11albinism, oculocutaneous, type v10.1APOA1, APOA2
12focal epithelial hyperplasia10.1APOA1, TTR
13bird fancier's lung10.1APOA1, APOA2
14anaplastic ependymoma10.1APOA1, GSN, TTR
15alopecia-mental retardation syndrome 310.1APOA1, GSN, TTR
16stone in bladder diverticulum10.1APOA1, APOA2
17polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract10.0GSN, TTR
18bacteriuria10.0B2M, TTR
19von willebrand disease, platelet-type10.0APOA1, APOA2
20denture stomatitis10.0B2M, TTR
21tibial nerve palsy10.0B2M, TTR
22childhood vagina botryoid rhabdomyosarcoma10.0B2M, TTR
23pancreatic vasoactive intestinal peptide producing tumor10.0B2M, TTR
24hypotrichosis 610.0B2M, TTR
25bleeding disorder, east texas type10.0APOA1, APOA2
26hypertriglyceridemia10.0APOA1, APOA2
27cranio-facial dystonia10.0B2M, FGA
28bubonic plague9.9B2M, LYZ
29angiokeratoma9.9B2M, LYZ
30anaplastic ganglioglioma9.9APOA1, B2M, TTR
31cardiomyopathy9.9
32hemorrhoid9.9B2M, LYZ
33neuropathy, hereditary sensory and autonomic, type ia9.9APOA1, APOA2
34glycogen storage disease viii9.9B2M, LYZ
35choriodal dystrophy, central areolar 29.8B2M, LYZ, TTR
36polyneuropathy9.8
37arthritis9.5
38hepatitis9.5
39retinitis9.5
40neuropathy9.5
41al amyloidosis9.5
42van maldergem syndrome 29.1APOA1, APOA2, B2M, FGA, GSN, LYZ
43hard palate cancer8.9APOA1, APOA2, B2M, FGA, FURIN, GSN
44hereditary lymphedema type ii8.9APOA1, APOA2, B2M, FGA, FURIN, GSN

Graphical network of the top 20 diseases related to Hereditary Amyloidosis:



Diseases related to hereditary amyloidosis

Symptoms & Phenotypes for Hereditary Amyloidosis

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MGI Mouse Phenotypes related to Hereditary Amyloidosis according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.7APOA1, B2M, FGA, GSN, LYZ
2MP:00053858.2APOA1, B2M, FGA, FURIN, GSN, LYZ
3MP:00107718.1APOA1, B2M, FGA, FURIN, GSN, LYZ
4MP:00053707.7APOA1, B2M, FGA, FURIN, LYZ
5MP:00053767.7APOA1, APOA2, B2M, FGA, GSN, LYZ

Drugs & Therapeutics for Hereditary Amyloidosis

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

(show all 32)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
ColchicineapprovedPhase 3, Phase 2, Phase 111564-86-86167, 2833
Synonyms:
(S)-N-(5,6,7,9-Tetrahydro-1,2,3,10-tetramethoxy-9-oxobenzo[a]heptalen-7-yl)acetamide
30512-31-3
5843-86-7
64-86-8
7-alpha-H-Colchicine
7.alpha.H-Colchicine
7alphaH-Colchicine
AC1L1LXO
ACon1_000353
AI3-31149
AKOS001582887
BB_NC-0737
BPBio1_000535
BRD-K00259736-001-06-5
BSPBio_000485
BSPBio_002083
Benzo(a)heptalen-9(5H)-one
C 9754
C07592
C22H25NO6
C3915_SIGMA
C9754_SIGMA
CCRIS 691
CHEBI:27882
CHEMBL107
CID6167
CPD-9785
Colchicin
Colchicin [German]
Colchicina
Colchicina [Italian]
Colchicine (JP15/USP)
Colchicine (TN)
Colchicine [JAN]
Colchicine, (+-)-Isomer
Colchicine, (R)-Isomer
Colchicine, Colchicum autumnale
Colchicinum
Colchineos
Colchisol
Colchysat
Colcin
Colcrys
Colsaloid
Colstat
Condylon
D003078
D00570
DB01394
DB08117
DivK1c_000753
EINECS 200-598-5
EU-0100310
Goutnil
HMS1569I07
HMS1920A08
HMS2091G16
HMS502F15
HSDB 3044
IDI1_000753
KBio1_000753
KBio2_001322
KBio2_003890
 
KBio2_006458
KBio3_001303
KBioGR_000856
KBioSS_001322
Kolkicin
LOC
LS-279
Lopac0_000310
MEGxp0_001879
MLS001055448
MLS001055448-02
MLS001304089
MLS002153786
MPC-004
MolPort-001-742-594
N-((7S)-5,6,7,9-tetrahydro-1,2,3,10-tetramethoxy-9-oxobenzo(a)heptalen-7-yl)- acetamide
N-(5,6,7,9-Tetrahydro-1,2,3,10-tetramethoxy-9-oxobenzo(a)heptalen-7-yl)acetamide
N-(5,6,7,9-Tetrahydro-1,2,3,10-tetramethoxy-9-oxobenzo[.alpha.]heptalen-7-yl)-acetamide
N-Acetyl trimethylcolchicinic acid methylether
N-[(7S)-1,2,3,10-tetramethoxy-9-oxo-5,6,7,9-tetrahydrobenzo[a]heptalen-7-yl]acetamide
N-[(7S)-1,2,3,10-tetramethoxy-9-oxo-6,7-dihydro-5H-benzo[a]heptalen-7-yl]acetamide
N-[(7S)-5,6,7,9-tetrahydro-1,2,3,10-tetramethoxy-9-oxobenzo[a]heptalen-7-yl]acetamide
NCGC00025125-01
NCGC00025125-02
NCGC00025125-03
NCGC00025125-04
NCGC00025125-05
NCGC00025125-06
NCGC00025125-07
NCGC00025125-11
NCGC00169157-01
NCGC00169157-02
NCGC00169157-03
NCI60_041659
NChemBio.2007.10-comp20
NINDS_000753
NSC 757
NSC757
Prestwick0_000363
Prestwick1_000363
Prestwick2_000363
Prestwick3_000363
Prestwick_695
S2284_Selleck
SDCCGMLS-0066633.P001
SMR000058323
SPBio_000289
SPBio_002406
SPECTRUM1500205
Spectrum2_000075
Spectrum3_000362
Spectrum4_000298
Spectrum5_000787
Spectrum_000842
Tocris-1364
UNII-SML2Y3J35T
UPCMLD-DP065
UPCMLD-DP065:001
WLN: L B677 MV&T&J CO1 DO1 EO1 JMV1 NO1
ZINC00621853
binds to tubulin
colchicine
inhibits microtubular assembly
nchembio853-comp2
spindle poison
2
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
3Antimitotic AgentsPhase 3, Phase 2, Phase 15657
4Antirheumatic AgentsPhase 2, Phase 3, Phase 110956
5VaccinesPhase 36611
6Interleukin 1 Receptor Antagonist ProteinPhase 3, Phase 1, Phase 299
7ImmunoglobulinsPhase 3, Phase 2, Phase 16394
8AntibodiesPhase 3, Phase 2, Phase 16394
9Antibodies, MonoclonalPhase 3, Phase 2, Phase 14039
10Peripheral Nervous System AgentsPhase 2, Phase 323689
11Analgesics, Non-NarcoticPhase 2, Phase 36501
12Anti-Inflammatory AgentsPhase 2, Phase 310729
13Anti-Inflammatory Agents, Non-SteroidalPhase 2, Phase 34443
14Cyclooxygenase InhibitorsPhase 2, Phase 32870
15AnalgesicsPhase 2, Phase 311733
16Pharmaceutical SolutionsPhase 38192
17
Doxycyclineapproved, investigational, vet_approvedPhase 2, Phase 1243564-25-054671203
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
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
5-hydroxy-α-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
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
Anhydrous 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
18
Tauroursodeoxycholic acidapproved, investigationalPhase 1, Phase 21314605-22-212443252
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
19Anti-Bacterial AgentsPhase 2, Phase 111226
20Antiprotozoal AgentsPhase 2, Phase 12051
21Antiparasitic AgentsPhase 2, Phase 12199
22Anti-Infective AgentsPhase 2, Phase 122062
23AntimalarialsPhase 2, Phase 11246
24Taurochenodeoxycholic AcidPhase 1, Phase 212
25Cholagogues and CholereticsPhase 1, Phase 2130
26Antiviral AgentsPhase 1, Phase 29967
27Gastrointestinal AgentsPhase 1, Phase 28402
28BifidobacteriumNutraceuticalPhase 2247
29AcidophilusNutraceuticalPhase 2558
30
Mentholapproved26062216-51-516666
Synonyms:
(−
()-Menthol
(+)-Neo-menthol
(+)-p-Menthan-3-ol
(+-)-(1R*,3R*,4S*)-Menthol
(+-)-Menthol
(+/-)-Menthol
(+/-)-p-Menthan-3-ol
(-)-(1R,3R,4S)-Menthol
(-)-Menthyl alcohol
(-)-menthol
(-)-p-Menthan-3-ol
(-)-trans-p-Menthan-cis-ol
(1R)-(-)-Menthol
(1R,2S,5R)-(-)-menthol
(1R,2S,5R)-Menthol
(1R,3R,4S)-(-)-MENTHOL
(1R,3R,4S)-(-)-Menthol
(1R-(1-alpha,2-beta,5-alpha))-5-Methyl-2-(1-methylethyl)cyclohexanol
(1S, 2S, 5R)-(+)-Neomenthol
(1S,2R,5R)-(+)-Isomenthol
(1S,2R,5S)-(+)-Menthol
(1S,2R,5S)-Menthol
(1alpha,2beta,5alpha)-5-Methyl-2(1-methylethyl)cyclohexanol
(1r,2s,5r)-(-)-menthol
(L)-MENTHOL
(R)-(-)-Menthol
(r)-(-)-menthol
)-Menthol
--MENTHOL
1-Menthol
1490-04-6
15356-60-2
15356-70-4
15785_RIEDEL
15785_SIAL
19863P
2-Isopropyl-5-methylcyclohexanol
20747-49-3
2216-51-5
3-p-Menthol
4-Isopropyl-1-methylcyclohexan-3-ol
491-02-1
5-Methyl-2-(1-methylethyl)-cyclohexanol
5-Methyl-2-(1-methylethyl)cyclohexanol
5-methyl-2-(propan-2-yl)cyclohexanol
5-methyl-2-propan-2-ylcyclohexan-1-ol
551376_ALDRICH
551376_FLUKA
588733_ALDRICH
613290_ALDRICH
613290_FLUKA
63660_FLUKA
63670_ALDRICH
63670_FLUKA
63975-60-0
6C6A4A8C-A054-468C-A1F0-F29E39838CF2
89-78-1
98167-53-4
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Caswell No. 540
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
DivK1c_000820
EINECS 201-939-0
EINECS 207-724-8
EINECS 216-074-4
EINECS 218-690-9
EINECS 239-387-8
EINECS 239-388-3
EPA Pesticide Chemical Code 051601
FEMA No. 2665
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
HMS1922G13
HMS2092L14
HMS502I22
 
HSDB 5662
HSDB 593
Headache crystals
Hexahydrothymol
I06-1216
I14-7371
IDI1_000820
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Menthomenthol
Menthyl alcohol
MolPort-000-849-729
MolPort-001-793-392
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Neoisomenthol
Peppermint camphor
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
ZINC01482164
cis-1 ,3-trans-1,4-(+-)-menthol
cis-1,3-trans-1,4-(+-)-menthol
d,l-Menthol
d-Menthol
d-Neomenthol
dl-3-p-Menthanol
dl-Menthol
dl-Menthol (JP15)
l-(-)-Menthol
l-Menthol
l-Menthol (JP15)
l-Menthol (TN)
l-Menthol (natural)
nchembio862-comp1
p-Menthan-3-ol
rac-Menthol
31
Ironapproved11657439-89-623925
Synonyms:
02583_FLUKA
12310_ALDRICH
12310_RIEDEL
129048-51-7
14067-02-8
161135-39-3
190454-13-8
195161-83-2
199281-22-6
209309_ALDRICH
209309_SIAL
255637_ALDRICH
266213_ALDRICH
266256_ALDRICH
267945_ALDRICH
267953_ALDRICH
26Fe
338141_ALDRICH
356808_ALDRICH
356824_ALDRICH
356832_ALDRICH
39344-71-3
3ZhP
413054_ALDRICH
443783-52-6
44890_ALDRICH
44890_FLUKA
675141-17-0
70884-35-4
73135-38-3
7439-89-6
8011-79-8
8053-60-9
AC1L2N38
ATW 230
ATW 432
Ancor B
Ancor en 80/150
Armco iron
Atomel 28
Atomel 300M200
Atomel 500M
Atomel 95
Atomiron 44MR
Atomiron 5M
Atomiron AFP 25
Atomiron AFP 5
C00023
C3518_SIAL
C3518_SIGMA
CCRIS 1580
CHEBI:18248
CID23925
Carbonyl iron
Copy Powder CS 105-175
D007501
DB01592
DSP 1000
DSP 128B
DSP 135
DSP 135C
DSP 138
Diseases (animal), iron overload
Diseases, iron overload
EF 1000
EF 250
EFV 200/300
EFV 250
EFV 250/400
EINECS 231-096-4
 
Ed-In-Sol
Eisen
Electrolytic iron
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feronate
Ferretts
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
Ferrum metallicum
GS 6
HF 2 (element)
HL (iron)
HQ (metal)
HS (iron)
HS 4849
HSDB 604
Hemocyte
Hierro
Hoeganaes ATW 230
Hoeganaes EH
IRMM524A_FLUKA
IRMM524B_FLUKA
IRON
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron powder
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, carbonyl
Iron, electrolytic
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
Iron, reduced
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Reduced iron
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Vitedyn-Slo
Yieronia
fer
ferrous iron
hierro
32Liver Extracts4067

Interventional clinical trials:

(show all 38)
idNameStatusNCT IDPhase
1The Effect of Diflunisal on Familial AmyloidosisCompletedNCT00294671Phase 2, Phase 3
2Safety and Efficacy Study of Fx-1006A in Patients With Familial AmyloidosisCompletedNCT00409175Phase 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
4ENDEAVOUR: Phase 3 Multicenter Study of Revusiran (ALN-TTRSC) in Patients With Transthyretin (TTR) Mediated Familial Amyloidotic Cardiomyopathy (FAC)CompletedNCT02319005Phase 3
5Kineret (Anakinra), in Adult Patients With Colchicine-Resistant Familial Mediterranean FeverCompletedNCT01705756Phase 3
6The Safety and Efficacy of Canakinumab in Patients Aged 4 Years or Older Diagnosed With Cryopyrin-associated Periodic Syndromes (CAPS) in CanadaCompletedNCT01105507Phase 3
7Efficacy, Safety and Tolerability of ACZ885 in Pediatric Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory DiseaseCompletedNCT01576367Phase 3
8An Extention Study of Safety of Canakinumab in Japanese Patients With Periodic Fever SyndromesCompletedNCT02911857Phase 3
9Efficacy, Safety and Tolerability of ACZ885 in Pediatric Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory DiseaseCompletedNCT01302860Phase 3
10Efficacy, Safety, and Tolerability of ACZ885 in Patients With Muckle-Wells SyndromeCompletedNCT00465985Phase 3
11Rilonacept for Treatment of Cryopyrin-Associated Periodic Syndromes (CAPS)CompletedNCT00288704Phase 3
12A Study of Canakinumab in Patients With Systemic Juvenile Idiopathic Arthritis or Hereditary Periodic Fevers Who Participated in the CACZ885G2301E1, CACZ885G2306 or CACZ885N2301 StudiesRecruitingNCT02334748Phase 3
13Study of Efficacy and Safety of Canakinumab in Patients With Hereditary Periodic FeversActive, not recruitingNCT02059291Phase 3
14APOLLO: The Study of an Investigational Drug, Patisiran (ALN-TTR02), for the Treatment of Transthyretin (TTR)-Mediated AmyloidosisActive, not recruitingNCT01960348Phase 3
15Dominantly Inherited Alzheimer Network Trial: An Opportunity to Prevent Dementia. A Study of Potential Disease Modifying Treatments in Individuals at Risk for or With a Type of Early Onset Alzheimer's Disease Caused by a Genetic Mutation.Active, not recruitingNCT01760005Phase 2, Phase 3
16Controlled Ceasing of Colchicine Therapy in Familial Mediterranean Fever (FMF) Patients With Single MEFV (Mediterranean Fever) Gene MutationUnknown statusNCT02175589Phase 2
17Safety and Effect of Doxycycline in Patients With AmyloidosisCompletedNCT01677286Phase 2
18Efficacy and Safety Study of ACZ885 in Patients With Active Recurrent or Chronic TNF-receptor Associated Periodic Syndrome (TRAPS).CompletedNCT01242813Phase 2
19Interleukin-1 Trap to Treat Autoinflammatory DiseasesCompletedNCT00094900Phase 2
20Rilonacept for Treatment of Familial Mediterranean Fever (FMF)CompletedNCT00582907Phase 2
21F 18 T807 Tau PET Imaging in Dominantly Inherited Alzheimer's Network (DIAN Project)RecruitingNCT02414178Phase 2
22Tolerability and Efficacy of a Combination of Doxycycline and TUDCA in Patients With Transthyretin Amyloid CardiomyopathyActive, not recruitingNCT01855360Phase 1, Phase 2
23Probiotics and Corticosteroids for Treating Periodic Fever, Aphthous Stomatitis, Pharyngitis, Cervical Adenitis (PFAPA)Not yet recruitingNCT02535962Phase 2
24Anakinra to Treat Patients With Neonatal Onset Multisystem Inflammatory DiseaseTerminatedNCT00069329Phase 1, Phase 2
25Pharmacokinetics Study of Colchicine in Familial Mediterranean Fever (FMF) PatientsCompletedNCT01075906Phase 1
26The Use of Kineret (Anakinra) in the Treatment of Familial Cold UrticariaCompletedNCT00214851Phase 1
27A Safety and Tolerability Study of an Investigational Drug, ALN-TTRSC02, in Healthy SubjectsActive, not recruitingNCT02797847Phase 1
28Ilaris (Canakinumab) in Patient With Periodic Fever, Aphthous Stomatitis, Pharyngitis and Cervical Adenitis (PFAPA)Not yet recruitingNCT02775994Phase 1
29Study of Systemic Amyloidosis Presentation and PrognosisUnknown statusNCT00004374
30Prevalence of Transthyretin Amyloidosis in Hypertrophic CardiomyopathyUnknown statusNCT01623245
31Burden of Disease Study In Patients With Transthyretin Familial Amyloidosis Polyneuropathy (TTR-FAP) orTransthyretin Cardiomyopathy (TTR-CM) And CaregiversCompletedNCT01604122
32Clinical Outcomes and Safety: A Registry Study of Ilaris (Canakinumab) PatientsCompletedNCT01213641
33Transthyretin-Associated Amyloidoses Outcome Survey (THAOS)RecruitingNCT00628745
34Dominantly Inherited Alzheimer Network (DIAN)RecruitingNCT00869817
35Physiologic Assessment of Microvascular Function in Patients With Cardiac AmyloidosisRecruitingNCT02798705
36German Centre for Cardiovascular Research Cardiomyopathy RegisterRecruitingNCT02187263
37Utility of Fibroscan in Estimating Hepatic Iron ConcentrationActive, not recruitingNCT02067130
38Expanded Access Protocol of Patisiran for Patients With Hereditary ATTR Amyloidosis (hATTR)AvailableNCT02939820

Search NIH Clinical Center for Hereditary Amyloidosis

Genetic Tests for Hereditary Amyloidosis

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Genetic tests related to Hereditary Amyloidosis:

id Genetic test Affiliating Genes
1 Amyloidosis Hereditary27

Anatomical Context for Hereditary Amyloidosis

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MalaCards organs/tissues related to Hereditary Amyloidosis:

36
Liver, Kidney, Heart, Testes, Lung

Publications for Hereditary Amyloidosis

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Articles related to Hereditary Amyloidosis:

(show top 50)    (show all 64)
idTitleAuthorsYear
1
Hereditary Amyloidosis with Recurrent Lung Infiltrates. (27872470)
2016
2
Hereditary amyloidosis with cardiomyopathy caused by the novel variant transthyretin A36D. (27646980)
2016
3
Protein conformational perturbations in hereditary amyloidosis: Differential impact of single point mutations in ApoAI amyloidogenic variants. (26515634)
2015
4
An overview of drugs currently under investigation for the treatment of transthyretin-related hereditary amyloidosis. (25003808)
2014
5
Online registry for mutations in hereditary amyloidosis including nomenclature recommendations. (25044787)
2014
6
Modified body mass index and time interval between diagnosis and operation affect survival after liver transplantation for hereditary amyloidosis: a single-center analysis. (23909501)
2013
7
Incidence of hereditary amyloidosis and autoinflammatory diseases in Sweden: endemic and imported diseases. (24138840)
2013
8
Guideline of transthyretin-related hereditary amyloidosis for clinicians. (23425518)
2013
9
Unexplained cardiac failure leading to the identification of a Belgian family affected by hereditary amyloidosis. (24455802)
2013
10
Hereditary amyloidosis caused by R554L fibrinogen AI+-chain mutation in a Spanish family and review of the literature. (23551149)
2013
11
Genotypic and phenotypic correlation in an Italian population of hereditary amyloidosis TTR-related (HA-TTR): clinical and neurophysiological aids to diagnosis and some reflections on misdiagnosis. (22620967)
2012
12
Solid organ transplantation for non-TTR hereditary amyloidosis: report from the 1st International Workshop on the Hereditary Renal Amyloidoses. (22540225)
2012
13
Incidence and survival in non-hereditary amyloidosis in Sweden. (23148499)
2012
14
Transthyretin-related hereditary amyloidosis in a Chinese family with TTR Y114C mutation. (21135536)
2011
15
Hereditary amyloidosis of the Finnish type in a German family: clinical and electrophysiological presentation. (20229579)
2010
16
Hereditary amyloidosis with progressive peripheral neuropathy associated with apolipoprotein AI Gly26Arg: outcome of hepatorenal transplantation. (17600344)
2007
17
Successful hepatorenal transplantation in hereditary amyloidosis caused by a frame-shift mutation in fibrinogen Aalpha-chain gene. (16468976)
2006
18
Early onset aggressive hereditary amyloidosis: report of an Italian family with TTR Arg47 mutation. (15995833)
2005
19
Hereditary amyloidosis in early childhood associated with a novel insertion-deletion (indel) in the fibrinogen Aalpha chain gene. (16221199)
2005
20
Liver biopsy discloses a new apolipoprotein A-I hereditary amyloidosis in several unrelated Italian families. (15131802)
2004
21
End-stage renal disease and dialysis in hereditary amyloidosis TTR V30M: presentation, survival and prognostic factors. (15185496)
2004
22
Hereditary amyloidosis. (12374886)
2002
23
Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. (12050338)
2002
24
Hereditary amyloidosis. (12375595)
2002
25
A new human hereditary amyloidosis: the result of a stop-codon mutation in the apolipoprotein AII gene. (11401442)
2001
26
Mutation and transcription analysis of transthyretin gene in Italian families with hereditary amyloidosis: a putative novel hot spot' in codon 47. (10845569)
2000
27
Hereditary amyloidosis: some words on the history and present status of our eminent subject. (10842698)
2000
28
A case of hereditary amyloidosis transthyretin variant Met 30 with amyloid cardiomyopathy, less polyneuropathy, and the presence of giant cells. (10571824)
1999
29
Bilateral multifocal retinal arteriolar sheathing as the only ocular finding in hereditary amyloidosis. (9437328)
1998
30
Novel transthyretin missense mutation (Thr34) in an Italian family with hereditary amyloidosis. (9605286)
1998
31
Hereditary amyloidosis]. (9453203)
1997
32
'Fragile' liver and massive hepatic haemorrhage due to hereditary amyloidosis. (8566845)
1996
33
A new apolipoprotein Al variant, Trp50Arg, causes hereditary amyloidosis. (7493166)
1995
34
A new mutation (TTR Ala-47) in the transthyretin gene associated with hereditary amyloidosis. (7951260)
1994
35
Prenatal diagnosis of hereditary amyloidosis in a Portuguese family living in France. (8110416)
1993
36
Transthyretin-related TTR hereditary amyloidosis of the vitreous body. Clinical and molecular characterization in two Italian families. (8345958)
1993
37
Two transthyretin variants (TTR Ala-49 and TTR Gln-89) in two Sicilian kindreds with hereditary amyloidosis. (1301926)
1992
38
Amyloid cardiomyopathy in systemic non-hereditary amyloidosis. Clinical, echocardiographic and electrocardiographic findings in 30 patients with AA and 24 patients with AL amyloidosis. (1618203)
1992
39
Hereditary amyloidosis and cardiomyopathy. (1626556)
1992
40
Molecular strategies in genetic diagnosis of transthyretin-related hereditary amyloidosis. (1353040)
1992
41
Immunohistochemical localization of amyloid in Finnish hereditary amyloidosis with antibodies to gelsolin peptides. (1848334)
1991
42
Gelsolin-related amyloidosis. Identification of the amyloid protein in Finnish hereditary amyloidosis as a fragment of variant gelsolin. (1849145)
1991
43
Prenatal diagnosis of hereditary amyloidosis in a Portuguese family. (1867256)
1991
44
Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene. (2176164)
1990
45
Mutation in gelsolin gene in Finnish hereditary amyloidosis. (2175344)
1990
46
Hereditary amyloidosis: detection of variant prealbumin genes by restriction enzyme analysis of amplified genomic DNA sequences. (2154345)
1990
47
Finnish hereditary amyloidosis. Amino acid sequence homology between the amyloid fibril protein and human plasma gelsoline. (2153578)
1990
48
Hereditary amyloidosis: evidence against early amyloid deposition. (2510740)
1989
49
Prenatal detection of a gene for hereditary amyloidosis. (2516414)
1989
50
Hereditary amyloidosis--disease entity and clinical model. (3126202)
1988

Variations for Hereditary Amyloidosis

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Expression for genes affiliated with Hereditary Amyloidosis

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Search GEO for disease gene expression data for Hereditary Amyloidosis.

Pathways for genes affiliated with Hereditary Amyloidosis

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Pathways related to Hereditary Amyloidosis according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.7APOA1, TTR
2
Show member pathways
9.4APOA1, APOA2
39.4APOA1, APOA2
49.4APOA1, APOA2
59.4APOA1, APOA2
6
Show member pathways
9.1APOA1, APOA2, TTR
7
Show member pathways
8.9APOA1, APOA2, FURIN
8
Show member pathways
7.0APOA1, B2M, FGA, FURIN, GSN, LYZ
9
Show member pathways
7.0APOA1, B2M, FGA, FURIN, GSN, LYZ

GO Terms for genes affiliated with Hereditary Amyloidosis

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Cellular components related to Hereditary Amyloidosis according to GeneCards Suite gene sharing:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1chylomicronGO:004262710.3APOA1, APOA2
2extracellular vesicleGO:190356110.2APOA1, FGA
3high-density lipoprotein particleGO:003436410.0APOA1, APOA2
4spherical high-density lipoprotein particleGO:00343669.9APOA1, APOA2
5specific granule lumenGO:00355809.6B2M, LYZ
6tertiary granule lumenGO:19047249.5B2M, LYZ
7very-low-density lipoprotein particleGO:00343619.4APOA1, APOA2
8blood microparticleGO:00725629.4APOA1, APOA2, FGA, GSN
9cell surfaceGO:00099869.4APOA1, B2M, FGA, FURIN
10endoplasmic reticulum lumenGO:00057889.3APOA1, APOA2, B2M, FGA
11extracellular exosomeGO:00700627.2APOA1, APOA2, B2M, FGA, FURIN, GSN
12extracellular regionGO:00055767.1APOA1, APOA2, B2M, FGA, FURIN, GSN
13extracellular spaceGO:00056157.0APOA1, APOA2, B2M, FGA, FURIN, GSN

Biological processes related to Hereditary Amyloidosis according to GeneCards Suite gene sharing:

(show all 30)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of substrate adhesion-dependent cell spreadingGO:190002610.3APOA1, FGA
2animal organ regenerationGO:003110010.2APOA1, APOA2
3cholesterol effluxGO:003334410.2APOA1, APOA2
4cholesterol homeostasisGO:004263210.2APOA1, APOA2
5cholesterol transportGO:003030110.2APOA1, APOA2
6chylomicron assemblyGO:003437810.2APOA1, APOA2
7chylomicron remodelingGO:003437110.2APOA1, APOA2
8high-density lipoprotein particle assemblyGO:003438010.2APOA1, APOA2
9high-density lipoprotein particle clearanceGO:003438410.2APOA1, APOA2
10high-density lipoprotein particle remodelingGO:003437510.2APOA1, APOA2
11lipoprotein biosynthetic processGO:004215810.2APOA1, APOA2
12negative regulation of cytokine secretion involved in immune responseGO:000274010.2APOA1, APOA2
13negative regulation of lipase activityGO:006019210.2APOA1, APOA2
14negative regulation of very-low-density lipoprotein particle remodelingGO:001090310.2APOA1, APOA2
15peptidyl-methionine modificationGO:001820610.1APOA1, APOA2
16phosphatidylcholine biosynthetic processGO:000665610.1APOA1, APOA2
17phospholipid effluxGO:003370010.1APOA1, APOA2
18positive regulation of cholesterol esterificationGO:001087310.1APOA1, APOA2
19protein oxidationGO:001815810.1APOA1, APOA2
20regulation of intestinal cholesterol absorptionGO:003030010.1APOA1, APOA2
21response to estrogenGO:004362710.0APOA1, APOA2
22extracellular matrix organizationGO:00301989.9FGA, FURIN, TTR
23lipoprotein metabolic processGO:00421579.6APOA1, APOA2, FURIN
24post-translational protein modificationGO:00436879.6APOA1, APOA2, FGA
25retina homeostasisGO:00018959.6B2M, LYZ
26response to drugGO:00424939.5APOA1, APOA2, B2M
27reverse cholesterol transportGO:00436919.4APOA1, APOA2
28retinoid metabolic processGO:00015239.4APOA1, APOA2, TTR
29neutrophil degranulationGO:00433129.1B2M, GSN, LYZ, TTR
30cellular protein metabolic processGO:00442677.1APOA1, APOA2, B2M, FGA, FURIN, GSN

Molecular functions related to Hereditary Amyloidosis according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1apolipoprotein receptor bindingGO:003419010.1APOA1, APOA2
2cholesterol bindingGO:001548510.1APOA1, APOA2
3cholesterol transporter activityGO:001712710.1APOA1, APOA2
4heat shock protein bindingGO:003107210.1APOA1, APOA2
5high-density lipoprotein particle bindingGO:000803510.1APOA1, APOA2
6high-density lipoprotein particle receptor bindingGO:007065310.1APOA1, APOA2
7lipase inhibitor activityGO:00551029.9APOA1, APOA2
8lipid transporter activityGO:00053199.8APOA1, APOA2
9phosphatidylcholine bindingGO:00312109.6APOA1, APOA2
10phosphatidylcholine-sterol O-acyltransferase activator activityGO:00602289.4APOA1, APOA2
11identical protein bindingGO:00428028.8APOA1, B2M, LYZ, TTR

Sources for Hereditary Amyloidosis

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet