MCID: THR054
MIFTS: 38

Thrombotic Thrombocytopenic Purpura, Familial malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Blood diseases

Aliases & Classifications for Thrombotic Thrombocytopenic Purpura, Familial

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Aliases & Descriptions for Thrombotic Thrombocytopenic Purpura, Familial:

Name: Thrombotic Thrombocytopenic Purpura, Familial 49 11 45
Upshaw-Schulman Syndrome 45 51 67 24
Microangiopathic Hemolytic Anemia 45 67 65
Congenital Thrombotic Thrombocytopenic Purpura 51 65
Schulman-Upshaw Syndrome 45 67
Uss 45 67
Thrombotic Thrombocytopenic Purpura, Congenital 45
Thrombotic Thrombocytopenic Purpura Congenital 67
Microangiopathic Hemolytic Anemia, Congenital 45
Microangiopathic Hemolytic Anemia Congenital 67
Thrombotic Thrombocytopenic Purpura Familial 67
Thrombotic Microangiopathy, Familial 45
 
Purpura, Thrombotic Thrombocytopenic 65
Thrombotic Microangiopathy Familial 67
Anemia Hemolytic Microangiopathic 47
Congenital Adamts-13 Deficiency 51
Upshaw Factor, Deficiency of 45
Deficiency of Upshaw Factor 67
Moschkowitz Disease 67
Ttp, Congenital 45
Congenital Ttp 51
Familial Ttp 51
Ttp 67

Characteristics:

Orphanet epidemiological data:

51
upshaw-schulman syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult,Childhood,Infancy,Neonatal; Age of death: any age

HPO:

61
thrombotic thrombocytopenic purpura, familial:
Inheritance: heterogeneous, autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 274150
Orphanet51 93583
ICD10 via Orphanet28 M31.3
MeSH36 D011697
UMLS65 C0221021, C1268935

Summaries for Thrombotic Thrombocytopenic Purpura, Familial

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NIH Rare Diseases:45 Thrombotic thrombocytopenic purpura (ttp), congenital is a blood disorder characterized by low platelets (i.e., thrombocytopenia), small areas of bleeding under the skin (i.e., purpura), low red blood cell count, and hemolytic anemia. ttp causes blood clots (thrombi) to form in small blood vessels throughout the body. these clots can cause serious medical problems if they block vessels and restrict blood flow to organs such as the brain, kidneys, and heart. resulting complications can include neurological problems (such as personality changes, headaches, confusion, and slurred speech), fever, abnormal kidney function, abdominal pain, and heart problems. hemolytic anemia can lead to paleness, yellowing of the eyes and skin (jaundice), fatigue, shortness of breath, and a rapid heart rate. ttp, congenital is much rarer than the acquired form and typically appears in infancy or early childhood. signs and symptoms often recur on a regular basis. ttp, congenital results from mutations in the adamts13 gene. the condition is inherited in an autosomal recessive manner. last updated: 4/7/2011

MalaCards based summary: Thrombotic Thrombocytopenic Purpura, Familial, also known as upshaw-schulman syndrome, is related to thrombotic thrombocytopenic purpura, acquired and thrombotic thrombocytopenic purpura, and has symptoms including prolonged neonatal jaundice, hemolytic-uremic syndrome and elevated serum creatinine. An important gene associated with Thrombotic Thrombocytopenic Purpura, Familial is ADAMTS13 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 13). Affiliated tissues include eye, brain and heart.

OMIM:49 The classic pentad of TTP includes hemolytic anemia with fragmentation of erythrocytes, thrombocytopenia, diffuse and... (274150) more...

UniProtKB/Swiss-Prot:67 Thrombotic thrombocytopenic purpura congenital: A hematologic disease characterized by hemolytic anemia with fragmentation of erythrocytes, thrombocytopenia, diffuse and non-focal neurologic findings, decreased renal function and fever. recessive.

Related Diseases for Thrombotic Thrombocytopenic Purpura, Familial

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Graphical network of the top 20 diseases related to Thrombotic Thrombocytopenic Purpura, Familial:



Diseases related to thrombotic thrombocytopenic purpura, familial

Symptoms for Thrombotic Thrombocytopenic Purpura, Familial

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Symptoms by clinical synopsis from OMIM:

274150

Clinical features from OMIM:

274150

HPO human phenotypes related to Thrombotic Thrombocytopenic Purpura, Familial:

(show all 15)
id Description Frequency HPO Source Accession
1 prolonged neonatal jaundice HP:0006579
2 hemolytic-uremic syndrome HP:0005575
3 elevated serum creatinine HP:0003259
4 increased blood urea nitrogen (bun) HP:0003138
5 microscopic hematuria HP:0002907
6 increased serum lactate HP:0002151
7 respiratory distress HP:0002098
8 schistocytosis HP:0001981
9 fever HP:0001945
10 microangiopathic hemolytic anemia HP:0001937
11 reticulocytosis HP:0001923
12 thrombocytopenia HP:0001873
13 tremor HP:0001337
14 confusion HP:0001289
15 proteinuria HP:0000093

Drugs & Therapeutics for Thrombotic Thrombocytopenic Purpura, Familial

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Drugs for Thrombotic Thrombocytopenic Purpura, Familial (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
EverolimusapprovedPhase 21797159351-69-66442177
Synonyms:
(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone
(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.04,9)hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone
(1R,9S,12S,15R,16E,23S,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriacont
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-Hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-23,27-epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,27-dihydroxy-3-{(2R)-1-[(1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl]propan-2-yl}-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-3H-23,27-epoxypyrido[2,1-c][1,4]oxazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34as)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethy
07741_FLUKA
159351-69-6
40-O-(2-hydroxyethyl)-rapamycin
42-O-(2-Hydroxyethyl)rapamycin
Afinitor
Afinitor Disperz
CERTICAN(R)
CHEMBL1201755
Certican
D02714
DB01590
 
Everolimus
Everolimus (JAN/USAN/INN)
Everolimus [USAN]
LS-143292
MolPort-003-847-342
MolPort-003-925-588
NCGC00167512-01
NVP-RAD-001
RAD 001
RAD-001
RAD-001C
RAD001
RAD001, SDZ-RAD, Certican, Zortress, Afinitor, Everolimus
S1120_Selleck
SDZ-RAD
UNII-9HW64Q8G6G
VOTUBIA
Zortress
everolimus
2
Sirolimusapproved, investigationalPhase 2179753123-88-95284616, 6436030, 46835353
Synonyms:
(-)-Rapamycin
(-)-rapamycin
1fkb
1pbk
23,27-Epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine
23,27-Epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine
23,27-epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine-1,5,11,28,29
3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
53123-88-9
A422989, NSC226080
AC-722
AC1L1JH9
AC1L7MJ9
AC1L9ZMV
AY 22989
AY-22989
AY22989
Ambotz53123-88-9
Antibiotic AY 22989
BIDD:PXR0165
Bio1_000293
Bio1_000782
Bio1_001271
Bio2_000375
Bio2_000855
BiomolKI2_000084
C07909
C51H79NO13
CBiol_002007
CCRIS 9024
CHEBI:100923
CHEBI:9168
CHEMBL413
CID10213190
CID10795871
CID11949238
CID11959112
CID313006
CID478951
CID5040
CID5284616
CID5358081
CID5374464
CID5460439
CID5497196
CID5924240
CID6436030
CID6610270
CID6610346
CID6711160
CID6713081
CID9833581
CID9854379
CID9854380
CID9962926
CID9962928
D00753
DB00877
DE-109
DivK1c_006936
 
FT-0082351
HMS2089A21
HSDB 7284
KBio1_001880
KBio2_000410
KBio2_002978
KBio2_005546
KBio3_000779
KBio3_000780
KBioGR_000410
KBioSS_000410
LCP-Siro
LMPK06000003
LS-143290
MLS000028373
MS-R001
MolMap_000043
MolPort-003-959-433
NCGC00021305-05
NCI60_001851
NCIMech_000355
NSC 226080
NSC226080
Perceiva
QTL1_000069
R0395_SIAL
R0395_SIGMA
RAP
RAPA
RPM
Rapammune
Rapamune
Rapamune (TN)
Rapamycin
Rapamycin (TN)
Rapamycin C-7, analog 4
Rapamycin Immunosuppressant Drug
Rapamycin from Streptomyces hygroscopicus
S1039_Selleck
SIIA 9268A
SILA 9268A
SILA9268A
SMP1_000255
SMR000058564
Sirolimus
Sirolimus (RAPAMUNE)
Sirolimus (USAN/INN)
Sirolimus [USAN:BAN:INN]
Sirolimus, Rapamune,Rapamycin
SpecPlus_000840
UNII-W36ZG6FT64
UNM-0000358684
WY-090217
Wy 090217
heptadecahydro-9,27-dihydroxy-3-[(1R)-2-[(1S,3R,4R)-4-hydroxy
nchembio.100-comp4
nchembio.2007.42-comp2
nchembio.79-comp1
nchembio762-comp1
nchembio883-comp3
rapamycin
sirolimus
3
Miconazoleapproved, investigationalPhase 2302622916-47-84189
Synonyms:
(+-)-1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl) imidazole
1-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]imidazole
1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole
1-[2-(2,4-Dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]-1H-imidazole
1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole
1-[2-(2,4-dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]imidazole
1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole
1-{2-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole
22832-87-7 (NITRATE)
22916-47-8
75319-47-0
AB00053500
AC1L1HM1
AKOS001574474
Aflorix(nitrate)
Albistat(nitrate)
Andergin(nitrate)
BPBio1_000279
BRD-A82396632-001-03-0
BRD-A82396632-008-02-7
BRN 0965511
BSPBio_000253
BSPBio_002033
CCRIS 7924
CHEBI:6923
CHEMBL91
CID4189
CPD-4501
Conofite(nitrate)
D00416
DB01110
Dactarin
Daktarin IV
Daktarin iv
Desenex
DivK1c_000156
EINECS 245-324-5
Epi-Monistat(nitrate)
Femizol-M
Florid(nitrate)
Gyno-Daktar(nitrate)
HMS1568M15
HMS2090B21
I14-14342
IDI1_000156
Imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl)methoxy)ethyl)- (9CI)
KBio1_000156
KBio2_001445
KBio2_004013
KBio2_006581
KBio3_001533
KBioGR_000581
KBioSS_001445
LS-78378
Lotrimin AF(nitrate)
MCZ
MJR 1762
MLS002222203
Makesense
Micantin (nitrate)
Micatin
 
Miconasil Nitrate
Miconazol
Miconazol [INN-Spanish]
Miconazole
Miconazole (JP15/USP/INN)
Miconazole 3
Miconazole 3 Combination Pack
Miconazole 7 Combination Pack
Miconazole [USAN:BAN:INN:JAN]
Miconazole nitrate salt
Miconazole-7
Miconazolo
Miconazolo [DCIT]
Miconazolum
Miconazolum [INN-Latin]
Micozole
Minostate
MolPort-002-557-553
Monazole 7
Monista (nitrate)
Monistat
Monistat (TN)
Monistat 1 Combination Pack
Monistat 3 Dual-Pak
Monistat 3 Vaginal Ovules
Monistat 5 Tampon
Monistat 7 Dual-Pak
Monistat 7 Vaginal Suppositories
Monistat Dual- PAK
Monistat IV
Monistat iv (TN)
Monistat iv (tn)
Monistat-Derm
NCI60_001353
NCI60_001380
NINDS_000156
NSC 170986
NSC169434
NSC170986
Novo-Miconazole Vaginal Ovules
Oprea1_091955
Oravig
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
Rash Relief Antifungal
SMR001307249
SPBio_000976
SPBio_002174
STK834405
STOCK1S-93556
Spectrum2_001048
Spectrum3_000507
Spectrum4_000061
Spectrum5_001297
Spectrum_000965
UNII-7NNO0D7S5M
Vusion
Zimycan
imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)
miconazole
4
rituximabapprovedPhase 21582174722-31-710201696
Synonyms:
AntiCD20
IDEC-102
IDEC-C2B8
 
Ig gamma-1 chain C region
MabThera
Mabthera
Rituxan
rituximab
5
PrednisoneapprovedPhase 2126753-03-25865
Synonyms:
(1S,2R,10S,11S,14R,15S)-14-hydroxy-14-(2-hydroxyacetyl)-2,15-dimethyltetracyclo[8.7.0.0^{2,7}.0^{11,15}]heptadeca-3,6-diene-5,17-dione
(8S,9S,10R,13S,14S,17R)-17-hydroxy-17-(2-hydroxyacetyl)-10,13-dimethyl-6,7,8,9,12,14,15,16-octahydrocyclopenta[a]phenanthrene-3,11-dione
(8xi,9xi,14xi)-17,21-dihydroxypregna-1,4-diene-3,11,20-trione
.delta. E
.delta.(sup1)-Cortisone
.delta.-Cortelan
.delta.-Cortisone
.delta.-Cortone
.delta.-E
.delta.1-Cortisone
.delta.1-Dehydrocortisone
.delta.sone
1,2-Dehydrocortisone
1,4-Pregnadiene-17-alpha,21-diol-3,11,20-trione
1,4-Pregnadiene-17.alpha.,21-diol-3,11,20-trione
1,4-Pregnadiene-17alpha,21-diol-3,11,20-trione
1-Cortisone
1-Dehydrocortisone
17,21-Dihydroxypregna-1,4-diene-3,11,20-trione
17alpha,21-Dihydroxy-1,4-pregnadiene-3,11,20-trione
53-03-2
68-59-7
81552_FLUKA
AC-11112
AC1L1LB2
AC1Q29EZ
ACon0_000082
ACon1_000297
AI3-52939
Adasone
Ancortone
Apo-Prednisone
Apo-prednisone
BPBio1_000323
BRD-K85883481-001-04-2
BSPBio_000293
Betapar
Bicortone
Bio-0649
C07370
C21H26O5
CCRIS 2646
CHEBI:8382
CHEMBL635
CID5865
CPD001227202
Cartancyl
Colisone
Cortan
Cortancyl
Cortidelt
Cotone
DB00635
Dacorten
Dacortin
Decortancyl
Decortin
Decortisyl
Dehydrocortisone
Dekortin
Delcortin
Dellacort
Dellacort A
Delta Cortelan
Delta E
Delta E.
Delta-Cortelan
Delta-Dome
Delta-cortelan
Delta-cortisone
Delta-cortone
Delta-dome
Deltacortene
Deltacortisone
Deltacortone
Deltasone
Deltasone, Liquid Pred, Orasone, Adasone, Deltacortisone,Prednisone
Deltison
Deltisona
Deltisone
Deltra
Di-Adreson
Diadreson
EINECS 200-160-3
Econosone
Encorton
Encortone
Enkortolon
Enkorton
Fernisone
Fiasone
HMS1568O15
HMS2090J13
HSDB 3168
Hostacortin
In-Sone
Incocortyl
Juvason
 
Kortancyl
LMST02030180
LS-1325
Liquid Pred
Lisacort
Lodotra
MEGxm0_000443
MLS001061265
MLS001304073
MLS001335907
MLS001335908
MLS002154191
MLS002207083
Me-Korti
Metacortandracin
Meticorten
Meticorten (Veterinary)
Metrevet (Veterinary)
MolPort-001-740-041
NCGC00090766-01
NCGC00090766-02
NCGC00090766-03
NCI-C04897
NCI60_000008
NSC 10023
NSC10023
Nisona
Nizon
Novoprednisone
Nurison
Orasone
Origen Prednisone
P1276
P6254_SIGMA
PRD
Panafcort
Panasol
Paracort
Parmenison
Pehacort
Perrigo Prednisone
Precort
Predeltin
Prednicen-M
Prednicorm
Prednicort
Prednicot
Prednidib
Prednilonga
Prednison
Prednisona
Prednisona [INN-Spanish]
Prednisone
Prednisone Intensol
Prednisone [INN:BAN]
Prednisonum
Prednisonum [INN-Latin]
Prednitone
Prednizon
Prednovister
Presone
Prestwick0_000077
Prestwick1_000077
Prestwick2_000077
Prestwick3_000077
Prestwick_405
Pronison
Pronisone
Rayos
Rectodelt
Retrocortine
S1622_Selleck
SAM002264641
SK-Prednisone
SMR000718760
SMR001227202
SPBio_002214
Servisone
Sone
Sterapred
Supercortil
U 6020
UNII-VB0R961HZT
Ultracorten
Ultracortene
WLN: L E5 B666 CV OV AHTTT&J A1 E1 FV1Q FQ
Winpred
Wojtab
ZINC03875357
Zenadrid
Zenadrid (veterinary)
Zenadrid [veterinary]
delta cortelan
delta(sup 1)-Cortisone
delta(sup 1)-Dehydrocortisone
delta-1-Cortisone
delta-1-Dehydrocortisone
delta-Cortisone
delta-Cortone
6Antirheumatic AgentsPhase 28496
7Immunosuppressive AgentsPhase 210422
8Antibiotics, AntitubercularPhase 25971
9Antifungal AgentsPhase 23015
10Anti-Infective AgentsPhase 217220
11Anti-Bacterial AgentsPhase 29140
12Immunologic FactorsPhase 218483
13
Aspirinapproved102950-78-22244
Synonyms:
11126-35-5
11126-37-7
1oxr
2-(ACETYLOXY)benzoic acid
2-(Acetyloxy)benzoate
2-(Acetyloxy)benzoic acid
2-Acetoxybenzenecarboxylic acid
2-Acetoxybenzoate
2-Acetoxybenzoic acid
2-Carboxyphenyl acetate
2349-94-2
26914-13-6
50-78-2
7 Select Adult Chewable Aspirin
7 Select Aspirin
8-hour Bayer
98201-60-6
A 5376
A.S.A
A.S.A.
A.S.A. Empirin
A.S.A. empirin
A2093_SIGMA
A3160_SIGMA
A5376_SIGMA
A6810_SIGMA
AB1003266
AC 5230
AC1L1D8U
AC1Q1LA0
ACETYLSALICYLIC ACID
AI3-02956
AIN
AKOS000118884
ASA
Acenterine
Acesal
Acetal
Acetard
Aceticyl
Acetilsalicilico
Acetilum acidulatum
Acetisal
Acetol
Acetonyl
Acetophen
Acetosal
Acetosalic acid
Acetosalin
Acetoxybenzoic acid
Acetylin
Acetylsal
Acetylsalicylate
Acetylsalicylic acid
Acetylsalicylsaeure
Acetylsalicylsaure
Acetylsalycilic acid
Acetyonyl
Acetysal
Acetysalicylic acid
Acide 2-(acetyloxy)benzoique
Acide acetylsalicylique
Acide acétylsalicylique
Acido O-acetil-benzoico
Acido acetilsalicilico
Acidum acetylsalicylicum
Acimetten
Acisal
Acylpyrin
Adiro
Adult Chewable Low Dose Aspirin
Adult Low Dose Aspirin
Adult Low Dose Aspirin Enteric Safety Coated
Adult Low Dose Enteric Coated Aspirin
Adult Low Strength Aspirin
Aloxiprimum
Asacard
Asagran
Asaphen
Asatard
Ascoden-30
Ascriptin Maximum Strength Buffered Aspirin
Ascriptin Regular Strength Buffered Aspirin
Aspalon
Aspec
Aspergum
Aspi-cor
Aspir Low
Aspir-Mox
Aspirdrops
Aspirin
Aspirin (JP15/USP)
Aspirin 81 Mg
Aspirin 81 Mg Low Dose
Aspirin Adult Low Dose
Aspirin Adult Low Strength
Aspirin Adult Low Strength Aspirin
Aspirin Adult low strength
Aspirin Chewable Low Dose
Aspirin Delayed Release
Aspirin EC
Aspirin EXTRA STRENGTH
Aspirin Ec
Aspirin Enteric
Aspirin Enteric Coated
Aspirin Enteric Coated Low Dose
Aspirin Enteric Safety Coated
Aspirin Enteric Safety-Coated
Aspirin Low Dose
Aspirin Low Dose Chewable
Aspirin Low Dose Enteric Coated
Aspirin Low Dose Safety Coated
Aspirin Low Strength
Aspirin Nsaid
Aspirin Regular Strength
Aspirin Regular Strength regular strength
Aspirin Regular strength
Aspirin Safety Coated
Aspirin Safety Coated Adult Low Dose
Aspirin Safety coated
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Aspirin [BAN:JAN]
Aspirin adult low dose
Aspirin adult low strength
Aspirin enteric safety coated
Aspirin low dose
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Aspirin regular strength
Aspirina 03
Aspirine
Aspiring
Asprin
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Azetylsalizylsaeure
Azetylsalizylsäure
BIDD:GT0118
BRN 0779271
Bay-e-4465
Bayer
Bayer Advanced Aspirin Extra Strength
Bayer Advanced Aspirin Regular Strength
Bayer Aspirin 8 Hour
Bayer Aspirin Regimen Chewable Low Dose Aspirin Orange
Bayer Aspirin Regimen Regular Strength
Bayer Buffered
Bayer Chewable - Aspirin Regimen Low Dose Aspirin Cherry Flavored
Bayer Extra Strength Aspirin For Migraine Pain
Bayer Fast Release
Bayer Genuine Aspirin
Bayer Low Dose
Bayer Plus
Bayer Plus Extra Strength
Bayer Womens
Benaspir
Bi-prin
Bialpirina
Bialpirinia
Buffered Aspirin
Bufferin
Bufferin LOW DOSE BUFFERED ASPIRIN
C01405
CCRIS 3243
CHEBI:15365
CHEMBL25
CID2244
Caprin
Cardioaspirin
Cardioaspirina
Care One Aspirin
Cemirit
Chewable Adult Low Dose Aspirin
Chewable Aspirin
Chewable Low Dose Aspirin
Claradin
Clariprin
Colfarit
Contrheuma retard
Coricidin
Critical Care Aspirin To Go
Crystar
D00109
D001241
DB00945
Decaten
Delgesic
Dg Health Aspirin
Direct Safety Aspirin
Dispril
DivK1c_000555
Dolean pH 8
Duramax
ECM
EINECS 200-064-1
EU-0100038
Easprin
Easprin (TN)
Ec-81aspirin Enteric Coated
Ecolen
Ecotrin
Ecotrin Regular Strength
Empirin
Empirin with Codeine
Endosprin
Endydol
Enteric Aspirin
Enteric Coated Aspirin
Enteric Coated Aspirin Regular Strength
Enteric Coated Aspirin Regular strength
Enteric Coated Aspirin regular strength
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Enteric Safety Coated Aspirin
Entericin
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Enterosarein
Enterosarine
Entrophen
Equaline Aspirin
Equaline Aspirin adult low dose
Equate Aspirin
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Extren
Fasprin
Flanax Aspirin Pain Reliever
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Globoid
Good Neighbor Pharmacy Aspirin
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Good Neighbor Pharmacy Aspirin orange flavor chewable
Good Sense Aspirin
Good Sense Aspirin Enteric Safety Coated
HMS1920E13
HMS2090G03
HMS2091K13
HMS501L17
HSDB 652
Handy Solutions Genuine Aspirin Bayer
Health Mart Aspirin
Health Mart Regular Strength Enteric Coated Aspirin
Health Sense Adult Chewable Low Strength Aspirin
Health Sense Aspirin 81
Health Sense Ecpirin
Healthy Accents Aspirin
Helicon
Henry Schein Aspirin
I14-7505
IDI1_000555
Idragin
Istopirin
KBio1_000555
KBio2_001725
KBio2_002271
KBio2_004293
KBio2_004839
KBio2_006861
KBio2_007407
KBio3_002149
KBio3_002751
KBioGR_000398
KBioGR_002271
KBioSS_001725
KBioSS_002272
Kapsazal
Kroger Value Aspirin
Kyselina 2-acetoxybenzoova
Kyselina acetylsalicylova
LS-143
Leader Aspirin
Leader Cardinal Health Aspirin
Leader Low Dose Aspirin
Levius
Lopac-A-5376
Lopac0_000038
Low Dose Adult Aspirin
Low Dose Aspirin
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Low Dose Aspirin Enteric Safety Coated
Low Dose Asprin
Low Dose Chewable Aspirin
Low Dose Miniprin Enteric Safety Coated
Low Dose Pain Relief Aspirin
Low Strength Chewable Aspirin
Low-dose Aspirin
MLS001055329
MLS001066332
MLS001336045
MLS001336046
Magnecyl
Measurin
Medi First Plus Aspirin
Medi-first Aspirin
Medique Aspirin
Medisyl
Micristin
Micro-coated Aspirin
Miniprin
MolPort-000-871-622
NCGC00015067-01
NCGC00015067-04
NCGC00015067-09
NCGC00090977-01
NCGC00090977-02
NCGC00090977-03
NCGC00090977-04
NCGC00090977-05
NCGC00090977-06
NCGC00090977-07
NCI60_002222
NINDS_000555
NSC 27223
NSC27223
NSC406186
Neuronika
North Aspirin
Novasen
Novid
Nu-seals
Nu-seals aspirin
O-(Acetyloxy)benzoate
O-(Acetyloxy)benzoic acid
O-Acetoxybenzoate
O-Acetoxybenzoic acid
O-Acetylsalicylic acid
O-Carboxyphenyl acetate
O-accetylsalicylic acid
O-acetylsalicylic acid
PL-2200
Pain Relief Aspirin
Pain Relief Aspirin Low Dose
Persistin
Pharbest Aspirin 325mg
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Pharmacin
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Plus Pharma NSAID 325 mg
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Polopirin
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R16CO5Y76E [UNII]
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Rheumin tabletten
Rheumintabletten
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Rx Act Aspirin
S-211
SMR000059138
SP 189
SPBio_001838
SPECTRUM1500130
ST075414
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Salacetin
Salcetogen
Saletin
Salicylic acid acetate
Salicylic acid, acetate
Salospir
Smart Health Aspirin regular strength
Smart Sense Aspirin
Solfrin
Solprin
Solprin acid
Solpyron
Solupsan
Solves - Aspirin Cherry
Spectrum2_001899
Spectrum3_001295
Spectrum4_000099
Spectrum5_000740
Spectrum_001245
Spira-Dine
St. Joseph
St. Joseph Aspirin for Adults
St. Joseph Chewable Aspirin
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Sunmark Aspirin
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Sunmark Aspirin adult low strength
Sunmark Aspirin low dose
Supac
Tasprin
Temperal
Toldex
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Triaminicin
Triple-sal
UNII R16CO5Y76E
UNII-R16CO5Y76E
UNII=R16CO5Y76E
UNM-0000306102
Uncoated Aspirin
Value Pharma Aspirin Pain Reliever
Value Pharmapain Reliever Extra Strength
Vanquish
WLN: QVR BOV1
XAXA
Xaxa
Yasta
ZORprin
Zee Aspirin
aspirin
cMAP_000006
component of Midol
component of Synirin
nchem.859-comp6
o-Acetoxybenzoic acid
o-Carboxyphenyl acetate
o-acetoxybenzoic acid
o-carboxyphenyl acetate
ácido acetilsalicílico

Interventional clinical trials:

(show all 12)
idNameStatusNCT IDPhase
1Prophylactic Plasma Infusion Therapy for Congenital Thrombotic Thrombocytopenic PurpuraWithdrawnNCT01754545Phase 4
2Sirolimus as Treatment of Steroid-Refractory or Steroid-Dependent Chronic Graft-Versus-Host DiseaseCompletedNCT00388362Phase 2
3Rituximab in Adult Acquired Idiopathic Thrombotic Thrombocytopenic PurpuraCompletedNCT00907751Phase 2
4Clinical Outcome Study of ARC1779 Injection in Patients With Thrombotic MicroangiopathyTerminatedNCT00726544Phase 2
5ADAMTS13 in Thrombotic Thrombocytopenic PurpuraCompletedNCT00426686
6Genotype and Phenotype Correlation in Hereditary Thrombotic Thrombocytopenic Purpura (Upshaw-Schulman Syndrome)RecruitingNCT01257269
7Promacta Pregnancy RegistryRecruitingNCT01064336
8Levels of Von Willebrand Factor Multimers and VWF-Cleaving Protease (ADAMTS-13) in Preterm and NeonateRecruitingNCT00701610
9Single Incision Versus Standard Laparoscopic SplenectomyActive, not recruitingNCT01276561
10The Role of Microparticles as a BiomarkerNot yet recruitingNCT02626663
11Cohort of Children With Acute Immune or Idiopathic Thrombocytopenic Purpura (ITP) : a Prospective Study in Pays De La LoireNot yet recruitingNCT00331357
12International Registry and Biorepository for TMA(Thrombotic Microangiopathy)TerminatedNCT00593229

Search NIH Clinical Center for Thrombotic Thrombocytopenic Purpura, Familial

Genetic Tests for Thrombotic Thrombocytopenic Purpura, Familial

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Anatomical Context for Thrombotic Thrombocytopenic Purpura, Familial

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MalaCards organs/tissues related to Thrombotic Thrombocytopenic Purpura, Familial:

33
Eye, Brain, Heart, Kidney, Skin

Animal Models for Thrombotic Thrombocytopenic Purpura, Familial or affiliated genes

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Publications for Thrombotic Thrombocytopenic Purpura, Familial

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Articles related to Thrombotic Thrombocytopenic Purpura, Familial:

idTitleAuthorsYear
1
Statistical identification of differentially labeled peptides from liquid chromatography tandem mass spectrometry. (17879999)
2007

Variations for Thrombotic Thrombocytopenic Purpura, Familial

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UniProtKB/Swiss-Prot genetic disease variations for Thrombotic Thrombocytopenic Purpura, Familial:

67 (show all 43)
id Symbol AA change Variation ID SNP ID
1ADAMTS13p.Val88MetVAR_027110rs281875302
2ADAMTS13p.His96AspVAR_027111rs121908467
3ADAMTS13p.Arg102CysVAR_027112rs121908469
4ADAMTS13p.Arg193TrpVAR_027113rs281875287
5ADAMTS13p.Thr196IleVAR_027114rs121908470
6ADAMTS13p.His234GlnVAR_027115rs281875304
7ADAMTS13p.Ala250ValVAR_027116rs121908478
8ADAMTS13p.Arg268ProVAR_027117rs121908477
9ADAMTS13p.Trp390CysVAR_027118rs281875306
10ADAMTS13p.Arg398HisVAR_027119rs121908471
11ADAMTS13p.Cys508TyrVAR_027122rs281875305
12ADAMTS13p.Arg528GlyVAR_027123rs121908473
13ADAMTS13p.Ile673PheVAR_027126rs281875307
14ADAMTS13p.Arg692CysVAR_027127rs121908475
15ADAMTS13p.Cys908TyrVAR_027131rs281875301
16ADAMTS13p.Cys951GlyVAR_027132rs121908468
17ADAMTS13p.Cys1024GlyVAR_027133rs121908472
18ADAMTS13p.Arg1123CysVAR_027136rs281875340
19ADAMTS13p.Cys1213TyrVAR_027137rs121908474
20ADAMTS13p.Gly1239ValVAR_027138rs281875303
21ADAMTS13p.Arg1336TrpVAR_027139rs281875308
22ADAMTS13p.Ile79MetVAR_067770rs281875297
23ADAMTS13p.Ser119PheVAR_067771rs281875291
24ADAMTS13p.Ile178ThrVAR_067772rs281875289
25ADAMTS13p.Ser203ProVAR_067773rs281875298
26ADAMTS13p.Leu232GlnVAR_067774rs281875292
27ADAMTS13p.Asp235HisVAR_067775rs281875337
28ADAMTS13p.Ser263CysVAR_067776rs281875293
29ADAMTS13p.Tyr304CysVAR_067777rs281875285
30ADAMTS13p.Cys311TyrVAR_067778rs281875336
31ADAMTS13p.Cys347SerVAR_067780rs281875294
32ADAMTS13p.Arg349CysVAR_067781rs281875288
33ADAMTS13p.Pro353LeuVAR_067782rs281875338
34ADAMTS13p.Arg507GlnVAR_067783rs281875296
35ADAMTS13p.Gly525AspVAR_067784rs281875286
36ADAMTS13p.Ala596ValVAR_067785rs281875299
37ADAMTS13p.Ala606ProVAR_067786rs281875290
38ADAMTS13p.Tyr658CysVAR_067787rs281875335
39ADAMTS13p.Pro671LeuVAR_067788rs281875295
40ADAMTS13p.Cys758ArgVAR_067789rs281875300
41ADAMTS13p.Cys908SerVAR_067790rs281875301
42ADAMTS13p.Arg1060TrpVAR_067792rs142572218
43ADAMTS13p.Arg1219TrpVAR_067793rs281875339

Clinvar genetic disease variations for Thrombotic Thrombocytopenic Purpura, Familial:

5 (show all 24)
id Gene Variation Type Significance SNP ID Assembly Location
1ADAMTS13NM_139025.4(ADAMTS13): c.286C> G (p.His96Asp)single nucleotide variantPathogenicrs121908467GRCh37Chr 9, 136289554: 136289554
2ADAMTS13NM_139025.4(ADAMTS13): c.2851T> G (p.Cys951Gly)single nucleotide variantPathogenicrs121908468GRCh37Chr 9, 136313839: 136313839
3ADAMTS13NM_139025.4(ADAMTS13): c.304C> T (p.Arg102Cys)single nucleotide variantPathogenicrs121908469GRCh37Chr 9, 136289572: 136289572
4ADAMTS13NM_139025.4(ADAMTS13): c.587C> T (p.Thr196Ile)single nucleotide variantPathogenicrs121908470GRCh37Chr 9, 136291366: 136291366
5ADAMTS13NM_139025.4(ADAMTS13): c.1193G> A (p.Arg398His)single nucleotide variantPathogenicrs121908471GRCh37Chr 9, 136298598: 136298598
6ADAMTS13NM_139025.4(ADAMTS13): c.3070T> G (p.Cys1024Gly)single nucleotide variantPathogenicrs121908472GRCh37Chr 9, 136319562: 136319562
7ADAMTS13NM_139025.4(ADAMTS13): c.1582A> G (p.Arg528Gly)single nucleotide variantPathogenicrs121908473GRCh37Chr 9, 136303015: 136303015
8ADAMTS13NM_139025.4(ADAMTS13): c.3770dupT (p.Leu1258Valfs)duplicationPathogenicrs387906341GRCh37Chr 9, 136321719: 136321719
9ADAMTS13NM_139025.4(ADAMTS13): c.2376_2401del26 (p.Ala793Profs)deletionPathogenicrs387906342GRCh37Chr 9, 136308638: 136308663
10ADAMTS13NM_139025.4(ADAMTS13): c.4143dupA (p.Glu1382Argfs)duplicationPathogenicrs387906343GRCh37Chr 9, 136324161: 136324161
11ADAMTS13NM_139025.4(ADAMTS13): c.3638G> A (p.Cys1213Tyr)single nucleotide variantPathogenicrs121908474GRCh37Chr 9, 136321260: 136321260
12ADAMTS13NM_139025.4(ADAMTS13): c.2074C> T (p.Arg692Cys)single nucleotide variantPathogenicrs121908475GRCh37Chr 9, 136307625: 136307625
13ADAMTS13ADAMTS13, IVS13DS, G-A, +5single nucleotide variantPathogenic
14ADAMTS13NM_139025.4(ADAMTS13): c.1345C> T (p.Gln449Ter)single nucleotide variantPathogenicrs121908476GRCh37Chr 9, 136301985: 136301985
15ADAMTS13NM_139025.4(ADAMTS13): c.803G> C (p.Arg268Pro)single nucleotide variantPathogenicrs121908477GRCh37Chr 9, 136293870: 136293870
16ADAMTS13NM_139025.4(ADAMTS13): c.1342C> G (p.Gln448Glu)single nucleotide variantPathogenicrs2301612GRCh37Chr 9, 136301982: 136301982
17ADAMTS13NM_139025.4(ADAMTS13): c.1423C> T (p.Pro475Ser)single nucleotide variantPathogenicrs11575933GRCh37Chr 9, 136302063: 136302063
18ADAMTS13NM_139025.4(ADAMTS13): c.1783_1784delTT (p.Leu595Glyfs)deletionPathogenicrs387906344GRCh37Chr 9, 136304564: 136304565
19ADAMTS13NM_139025.4(ADAMTS13): c.414+1G> Asingle nucleotide variantPathogenicrs786205077GRCh37Chr 9, 136290733: 136290733
20ADAMTS13NM_139025.4(ADAMTS13): c.749C> T (p.Ala250Val)single nucleotide variantPathogenicrs121908478GRCh37Chr 9, 136293816: 136293816
21ADAMTS13NM_139025.4(ADAMTS13): c.331-1G> Asingle nucleotide variantPathogenicrs786205078GRCh37Chr 9, 136290648: 136290648
22ADAMTS13NM_139025.4(ADAMTS13): c.291_319del29 (p.Glu98Profs)deletionPathogenicrs387906345GRCh37Chr 9, 136289559: 136289587
23ADAMTS13NM_139025.4(ADAMTS13): c.2930_2935delGTGCCC (p.Cys977_Arg979delinsTrp)deletionPathogenicrs387906346GRCh37Chr 9, 136314972: 136314977
24ADAMTS13NM_139025.4(ADAMTS13): c.1523G> A (p.Cys508Tyr)single nucleotide variantPathogenicrs281875305GRCh37Chr 9, 136302956: 136302956

Expression for genes affiliated with Thrombotic Thrombocytopenic Purpura, Familial

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Search GEO for disease gene expression data for Thrombotic Thrombocytopenic Purpura, Familial.

Pathways for genes affiliated with Thrombotic Thrombocytopenic Purpura, Familial

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GO Terms for genes affiliated with Thrombotic Thrombocytopenic Purpura, Familial

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Biological processes related to Thrombotic Thrombocytopenic Purpura, Familial according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1proteolysisGO:00065089.4ADAMTS13, HP

Sources for Thrombotic Thrombocytopenic Purpura, Familial

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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