MCID: HRD039
MIFTS: 43

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 46
Amyloidosis Hereditary 46 25 48
Amyloidosis, Hereditary 66
 
Amyloidosis, Familial 66
Familial Amyloidosis 46
Amyloidosis Familial 48

Classifications:



Summaries for Hereditary Amyloidosis

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NIH Rare Diseases:46 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 polyneuropathy and familial amyloidosis, finnish type, and has symptoms including hyperexplexia An important gene associated with Hereditary Amyloidosis is TTR (Transthyretin), and among its related pathways are FOXA2 and FOXA3 transcription factor networks and PPAR signaling pathway. Affiliated tissues include liver, kidney and heart, and related mouse phenotype homeostasis/metabolism.

Wikipedia:69 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 Amyloidosis Aa
Al Amyloidosis hereditary amyloidosis
Primary Localized Amyloidosis Ah Amyloidosis

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

(show all 34)
idRelated DiseaseScoreTop Affiliating Genes
1polyneuropathy29.9APOA1, APOA2
2familial amyloidosis, finnish type12.1
3amyloidosis, hereditary, transthyretin-related11.4
4amyloidosis, familial visceral11.1
5amyloidosis, finnish type10.9
6amyloidosis10.6
7plague10.3GSN, TTR
8multifocal choroiditis10.3GSN, TTR
9hypotrichosis 610.3GSN, TTR
10corpus callosum agenesis10.2ENSG00000283430, GSN
11central nervous system adult germ cell tumor10.2APOA1, TTR
12tyrosinemia, type ii10.1APOA1, APOA2
13polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract10.1GSN, TTR
14bladder diverticulum10.0APOA1, APOA2
15cardiomyopathy10.0
16inflamed seborrheic keratosis10.0APOA1, APOA2
17hyperlipidemia, familial combined10.0APOA1, APOA2
18squamous cell papilloma9.9APOA1, GSN, TTR
19von willebrand disease, platelet-type9.9APOA1, APOA2
20cataract 5, multiple types9.9APOA1, APOA2
21lethal congenital contracture syndrome 19.9ENSG00000283430, GSN, TTR
22apolipoprotein c-iii deficiency9.8APOA1, APOA2
23survival motor neuron spinal muscular atrophy9.7APOA1, TTR
24obesity, hyperphagia, and developmental delay9.7APOA1, APOA2
25arthritis9.7
26hepatitis9.7
27retinitis9.7
28neuropathy9.7
29al amyloidosis9.7
30myocardial infarction9.3APOA1, APOA2, FGA
31alopecia-mental retardation syndrome 39.1APOA1, GSN, LYZ, TTR
32lower gum cancer8.1APOA1, ENSG00000283430, FGA, GSN, LYZ, TTR
33afibrinogenemia, congenital8.1APOA1, APOA2, FGA, GSN, LYZ, TTR
34amyoplasia mandibulofacial dysostosis7.6APOA1, APOA2, ENSG00000283430, FGA, GSN, LYZ

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



Diseases related to hereditary amyloidosis

Symptoms for Hereditary Amyloidosis

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UMLS symptoms related to Hereditary Amyloidosis:


hyperexplexia

Drugs & Therapeutics for Hereditary Amyloidosis

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

(show all 8)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
ColchicinePhase 3, Phase 2, Phase 110664-86-86167, 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
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
3
Tauroursodeoxycholic acidPhase 1, Phase 21214605-22-212443252
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
4
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
5BifidobacteriumNutraceuticalPhase 2220
6ACIDOPHILUSNutraceuticalPhase 2502
7
Menthol21842216-51-516666
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
8
Iron10807439-89-623925
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

Interventional clinical trials:

(show all 35)
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
4Kineret (Anakinra), in Adult Patients With Colchicine-Resistant Familial Mediterranean FeverCompletedNCT01705756Phase 3
5Efficacy, 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
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
8Efficacy, Safety, and Tolerability of ACZ885 in Patients With Muckle-Wells SyndromeCompletedNCT00465985Phase 3
9Rilonacept for Treatment of Cryopyrin-Associated Periodic Syndromes (CAPS)CompletedNCT00288704Phase 3
10APOLLO: The Study of an Investigational Drug, Patisiran (ALN-TTR02), for the Treatment of Transthyretin (TTR)-Mediated AmyloidosisActive, not recruitingNCT01960348Phase 3
11ENDEAVOUR: Phase 3 Multicenter Study of Revusiran (ALN-TTRSC) in Patients With Transthyretin (TTR) Mediated Familial Amyloidotic Cardiomyopathy (FAC)Active, not recruitingNCT02319005Phase 3
12Dominantly 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
13Study of Efficacy and Safety of Canakinumab in Patients With Hereditary Periodic FeversActive, not recruitingNCT02059291Phase 3
14An Extention Study of Safety of Canakinumab in Japanese Patients With Periodic Fever SyndromesNot yet recruitingNCT02911857Phase 3
15Interleukin-1 Trap to Treat Autoinflammatory DiseasesCompletedNCT00094900Phase 2
16Efficacy and Safety Study of ACZ885 in Patients With Active Recurrent or Chronic TNF-receptor Associated Periodic Syndrome (TRAPS).CompletedNCT01242813Phase 2
17Rilonacept for Treatment of Familial Mediterranean Fever (FMF)CompletedNCT00582907Phase 2
18F 18 T807 Tau PET Imaging in Dominantly Inherited Alzheimer's Network (DIAN Project)RecruitingNCT02414178Phase 2
19Safety and Effect of Doxycycline in Patients With AmyloidosisActive, not recruitingNCT01677286Phase 2
20Tolerability and Efficacy of a Combination of Doxycycline and TUDCA in Patients With Transthyretin Amyloid CardiomyopathyActive, not recruitingNCT01855360Phase 1, Phase 2
21Controlled Ceasing of Colchicine Therapy in Familial Mediterranean Fever (FMF) Patients With Single MEFV (Mediterranean Fever) Gene MutationEnrolling by invitationNCT02175589Phase 2
22Probiotics and Corticosteroids for Treating Periodic Fever, Aphthous Stomatitis, Pharyngitis, Cervical Adenitis (PFAPA)Not yet recruitingNCT02535962Phase 2
23The Use of Kineret (Anakinra) in the Treatment of Familial Cold UrticariaCompletedNCT00214851Phase 1
24Pharmacokinetics Study of Colchicine in Familial Mediterranean Fever (FMF) PatientsCompletedNCT01075906Phase 1
25A Safety and Tolerability Study of an Investigational Drug, ALN-TTRSC02, in Healthy SubjectsRecruitingNCT02797847Phase 1
26Ilaris (Canakinumab) in Patient With Periodic Fever, Aphthous Stomatitis, Pharyngitis and Cervical Adenitis (PFAPA)Not yet recruitingNCT02775994Phase 1
27Burden of Disease Study In Patients With Transthyretin Familial Amyloidosis Polyneuropathy (TTR-FAP) orTransthyretin Cardiomyopathy (TTR-CM) And CaregiversCompletedNCT01604122
28Clinical Outcomes and Safety: A Registry Study of Ilaris (Canakinumab) PatientsCompletedNCT01213641
29Study of Systemic Amyloidosis Presentation and PrognosisRecruitingNCT00004374
30Transthyretin-Associated Amyloidoses Outcome Survey (THAOS)RecruitingNCT00628745
31German Centre for Cardiovascular Research Cardiomyopathy RegisterRecruitingNCT02187263
32Physiologic Assessment of Microvascular Function in Patients With Cardiac AmyloidosisRecruitingNCT02798705
33Dominantly Inherited Alzheimer Network (DIAN)RecruitingNCT00869817
34Prevalence of Transthyretin Amyloidosis in Hypertrophic CardiomyopathyActive, not recruitingNCT01623245
35Utility of Fibroscan in Estimating Hepatic Iron ConcentrationActive, not recruitingNCT02067130

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 Hereditary25

Anatomical Context for Hereditary Amyloidosis

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MalaCards organs/tissues related to Hereditary Amyloidosis:

34
Liver, Kidney, Heart, Testes

Animal Models for Hereditary Amyloidosis or affiliated genes

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MGI Mouse Phenotypes related to Hereditary Amyloidosis:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.3APOA1, APOA2, FGA, GSN, LYZ, TTR

Publications for Hereditary Amyloidosis

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Articles related to Hereditary Amyloidosis:

(show top 50)    (show all 63)
idTitleAuthorsYear
1
Hereditary amyloidosis with cardiomyopathy caused by the novel variant transthyretin A36D. (27646980)
2016
2
Protein conformational perturbations in hereditary amyloidosis: Differential impact of single point mutations in ApoAI amyloidogenic variants. (26515634)
2015
3
Online registry for mutations in hereditary amyloidosis including nomenclature recommendations. (25044787)
2014
4
Guideline of transthyretin-related hereditary amyloidosis for clinicians. (23425518)
2013
5
Unexplained cardiac failure leading to the identification of a Belgian family affected by hereditary amyloidosis. (24455802)
2013
6
Incidence of hereditary amyloidosis and autoinflammatory diseases in Sweden: endemic and imported diseases. (24138840)
2013
7
Incidence and survival in non-hereditary amyloidosis in Sweden. (23148499)
2012
8
Solid organ transplantation for non-TTR hereditary amyloidosis: report from the 1st International Workshop on the Hereditary Renal Amyloidoses. (22540225)
2012
9
Transthyretin-related hereditary amyloidosis in a Chinese family with TTR Y114C mutation. (21135536)
2011
10
Hereditary amyloidosis of the Finnish type in a German family: clinical and electrophysiological presentation. (20229579)
2010
11
Hereditary amyloidosis with progressive peripheral neuropathy associated with apolipoprotein AI Gly26Arg: outcome of hepatorenal transplantation. (17600344)
2007
12
Successful hepatorenal transplantation in hereditary amyloidosis caused by a frame-shift mutation in fibrinogen Aalpha-chain gene. (16468976)
2006
13
Early onset aggressive hereditary amyloidosis: report of an Italian family with TTR Arg47 mutation. (15995833)
2005
14
Liver biopsy discloses a new apolipoprotein A-I hereditary amyloidosis in several unrelated Italian families. (15131802)
2004
15
End-stage renal disease and dialysis in hereditary amyloidosis TTR V30M: presentation, survival and prognostic factors. (15185496)
2004
16
Hereditary amyloidosis. (12375595)
2002
17
Hereditary amyloidosis. (12374886)
2002
18
Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. (12050338)
2002
19
A new human hereditary amyloidosis: the result of a stop-codon mutation in the apolipoprotein AII gene. (11401442)
2001
20
Mutation and transcription analysis of transthyretin gene in Italian families with hereditary amyloidosis: a putative novel hot spot' in codon 47. (10845569)
2000
21
A case of hereditary amyloidosis transthyretin variant Met 30 with amyloid cardiomyopathy, less polyneuropathy, and the presence of giant cells. (10571824)
1999
22
Bilateral multifocal retinal arteriolar sheathing as the only ocular finding in hereditary amyloidosis. (9437328)
1998
23
Novel transthyretin missense mutation (Thr34) in an Italian family with hereditary amyloidosis. (9605286)
1998
24
Hereditary amyloidosis]. (9453203)
1997
25
'Fragile' liver and massive hepatic haemorrhage due to hereditary amyloidosis. (8566845)
1996
26
A new apolipoprotein Al variant, Trp50Arg, causes hereditary amyloidosis. (7493166)
1995
27
Transthyretin-related TTR hereditary amyloidosis of the vitreous body. Clinical and molecular characterization in two Italian families. (8345958)
1993
28
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
29
Molecular strategies in genetic diagnosis of transthyretin-related hereditary amyloidosis. (1353040)
1992
30
Immunohistochemical localization of amyloid in Finnish hereditary amyloidosis with antibodies to gelsolin peptides. (1848334)
1991
31
Gelsolin-related amyloidosis. Identification of the amyloid protein in Finnish hereditary amyloidosis as a fragment of variant gelsolin. (1849145)
1991
32
Prenatal diagnosis of hereditary amyloidosis in a Portuguese family. (1867256)
1991
33
Mutation in gelsolin gene in Finnish hereditary amyloidosis. (2175344)
1990
34
Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene. (2176164)
1990
35
Finnish hereditary amyloidosis. Amino acid sequence homology between the amyloid fibril protein and human plasma gelsoline. (2153578)
1990
36
Hereditary amyloidosis: detection of variant prealbumin genes by restriction enzyme analysis of amplified genomic DNA sequences. (2154345)
1990
37
Prenatal detection of a gene for hereditary amyloidosis. (2516414)
1989
38
Hereditary amyloidosis: evidence against early amyloid deposition. (2510740)
1989
39
Identification of a new hereditary amyloidosis prealbumin variant, Tyr-77, and detection of the gene by DNA analysis. (2891727)
1988
40
The clinical and biochemical spectrum of hereditary amyloidosis. (2847318)
1988
41
Hereditary amyloidosis--disease entity and clinical model. (3126202)
1988
42
Hereditary amyloidosis: description of a new American kindred with late onset cardiomyopathy. Appalachian amyloid. (3030336)
1987
43
Biochemical and molecular genetic characterization of a new variant prealbumin associated with hereditary amyloidosis. (3722385)
1986
44
Chemical classification of hereditary amyloidosis in Brazilian families and identification of gene carriers. (3820203)
1986
45
Molecular detection of carriers of hereditary amyloidosis in a Swedish-American family. (2877582)
1986
46
Erosive arthritis in hereditary amyloidosis. (6615565)
1983
47
Neurophysiological studies in hereditary amyloidosis with polyneuropathy. (5033714)
1972
48
Hereditary amyloidosis. (5533185)
1970
49
Hereditary amyloidosis of the cornea. (5310277)
1970
50
Hereditary amyloidosis, the flexor retinaculum, and the carpal tunnel syndrome. (5353839)
1969

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
19.6APOA1, TTR
2
Show member pathways
9.4APOA1, APOA2
39.4APOA1, APOA2
4
Show member pathways
9.4APOA1, APOA2
5
Show member pathways
9.0APOA1, APOA2, TTR
6
Show member pathways
9.0APOA1, APOA2, TTR
7
Show member pathways
7.9APOA1, FGA, GSN, LYZ, TTR
8
Show member pathways
7.9APOA1, FGA, GSN, LYZ, TTR

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 12)
idNameGO IDScoreTop Affiliating Genes
1sarcoplasmGO:001652810.3ENSG00000283430, GSN
2actin capGO:003047810.2ENSG00000283430, GSN
3chylomicronGO:004262710.1APOA1, APOA2
4very-low-density lipoprotein particleGO:003436110.1APOA1, APOA2
5high-density lipoprotein particleGO:003436410.1APOA1, APOA2
6spherical high-density lipoprotein particleGO:003436610.0APOA1, APOA2
7cortical actin cytoskeletonGO:003086410.0ENSG00000283430, GSN
8extracellular vesicleGO:19035619.9APOA1, FGA
9blood microparticleGO:00725628.2APOA1, APOA2, ENSG00000283430, FGA, GSN
10extracellular exosomeGO:00700626.7APOA1, APOA2, ENSG00000283430, FGA, GSN, LYZ
11extracellular regionGO:00055766.6APOA1, APOA2, ENSG00000283430, FGA, GSN, LYZ
12extracellular spaceGO:00056156.4APOA1, APOA2, ENSG00000283430, FGA, GSN, LYZ

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

(show all 48)
idNameGO IDScoreTop Affiliating Genes
1regulation of establishment of T cell polarityGO:190390310.2ENSG00000283430, GSN
2regulation of receptor clusteringGO:190390910.2ENSG00000283430, GSN
3renal protein absorptionGO:009701710.2ENSG00000283430, GSN
4regulation of wound healing, spreading of epidermal cellsGO:190368910.2ENSG00000283430, GSN
5regulation of plasma membrane raft polarizationGO:190390610.2ENSG00000283430, GSN
6positive regulation of protein processing in phagocytic vesicleGO:190392310.2ENSG00000283430, GSN
7striated muscle atrophyGO:001489110.2ENSG00000283430, GSN
8positive regulation of keratinocyte apoptotic processGO:190217410.2ENSG00000283430, GSN
9positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathwayGO:200126910.2ENSG00000283430, GSN
10negative regulation of viral entry into host cellGO:004659710.1ENSG00000283430, GSN
11sequestering of actin monomersGO:004298910.1ENSG00000283430, GSN
12actin filament severingGO:005101410.1ENSG00000283430, GSN
13positive regulation of actin nucleationGO:005112710.1ENSG00000283430, GSN
14actin nucleationGO:004501010.1ENSG00000283430, GSN
15regulation of podosome assemblyGO:007180110.1ENSG00000283430, GSN
16barbed-end actin filament cappingGO:005101610.1ENSG00000283430, GSN
17amyloid fibril formationGO:199000010.1ENSG00000283430, GSN
18protein oxidationGO:001815810.0APOA1, APOA2
19peptidyl-methionine modificationGO:001820610.0APOA1, APOA2
20negative regulation of lipase activityGO:006019210.0APOA1, APOA2
21regulation of intestinal cholesterol absorptionGO:003030010.0APOA1, APOA2
22negative regulation of very-low-density lipoprotein particle remodelingGO:001090310.0APOA1, APOA2
23positive regulation of cholesterol esterificationGO:001087310.0APOA1, APOA2
24phospholipid effluxGO:003370010.0APOA1, APOA2
25lipoprotein biosynthetic processGO:004215810.0APOA1, APOA2
26high-density lipoprotein particle clearanceGO:003438410.0APOA1, APOA2
27high-density lipoprotein particle assemblyGO:003438010.0APOA1, APOA2
28negative regulation of cytokine secretion involved in immune responseGO:000274010.0APOA1, APOA2
29cholesterol effluxGO:00333449.9APOA1, APOA2
30protein destabilizationGO:00316489.9ENSG00000283430, GSN
31high-density lipoprotein particle remodelingGO:00343759.9APOA1, APOA2
32cholesterol transportGO:00303019.9APOA1, APOA2
33phosphatidylcholine biosynthetic processGO:00066569.9APOA1, APOA2
34reverse cholesterol transportGO:00436919.8APOA1, APOA2
35lipoprotein metabolic processGO:00421579.8APOA1, APOA2
36actin filament reorganizationGO:00905279.8ENSG00000283430, GSN
37actin filament cappingGO:00516939.8ENSG00000283430, GSN
38cholesterol homeostasisGO:00426329.7APOA1, APOA2
39cholesterol metabolic processGO:00082039.7APOA1, APOA2
40animal organ regenerationGO:00311009.7APOA1, APOA2
41actin filament polymerizationGO:00300419.7ENSG00000283430, GSN
42cilium morphogenesisGO:00602719.7ENSG00000283430, GSN
43response to estrogenGO:00436279.6APOA1, APOA2
44positive regulation of substrate adhesion-dependent cell spreadingGO:19000269.5APOA1, FGA
45hepatocyte apoptotic processGO:00972849.4ENSG00000283430, GSN
46retinoid metabolic processGO:00015239.3APOA1, APOA2, TTR
47phagocytosis, engulfmentGO:00069119.2ENSG00000283430, GSN
48cellular protein metabolic processGO:00442677.7APOA1, ENSG00000283430, FGA, GSN, LYZ, TTR

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1myosin II bindingGO:00451599.9ENSG00000283430, GSN
2apolipoprotein receptor bindingGO:00341909.9APOA1, APOA2
3high-density lipoprotein particle receptor bindingGO:00706539.8APOA1, APOA2
4lipase inhibitor activityGO:00551029.8APOA1, APOA2
5phosphatidylcholine-sterol O-acyltransferase activator activityGO:00602289.8APOA1, APOA2
6high-density lipoprotein particle bindingGO:00080359.7APOA1, APOA2
7lipid transporter activityGO:00053199.6APOA1, APOA2
8cholesterol transporter activityGO:00171279.6APOA1, APOA2
9cholesterol bindingGO:00154859.5APOA1, APOA2
10phosphatidylcholine bindingGO:00312109.5APOA1, APOA2
11phospholipid bindingGO:00055439.4APOA1, APOA2

Sources for Hereditary Amyloidosis

About this section
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