TTP
MCID: THR054
MIFTS: 43

Thrombotic Thrombocytopenic Purpura, Familial (TTP) malady

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

Aliases & Classifications for Thrombotic Thrombocytopenic Purpura, Familial

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Sources:
12diseasecard, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Thrombotic Thrombocytopenic Purpura, Familial:

Name: Thrombotic Thrombocytopenic Purpura, Familial 52 48 12
Microangiopathic Hemolytic Anemia 48 70 27 68
Upshaw-Schulman Syndrome 48 54 70 27
Thrombotic Thrombocytopenic Purpura, Congenital 52 48
Congenital Thrombotic Thrombocytopenic Purpura 54 68
Schulman-Upshaw Syndrome 48 70
Ttp 54 70
Uss 48 70
Thrombotic Thrombocytopenic Purpura Congenital 70
Microangiopathic Hemolytic Anemia, Congenital 48
Thrombotic Thrombocytopenic Purpura Familial 70
Microangiopathic Hemolytic Anemia Congenital 70
Purpura, Thrombotic Thrombocytopenic 68
 
Thrombotic Microangiopathy, Familial 48
Thrombotic Microangiopathy Familial 70
Thrombotic Thrombocytopenic Purpura 54
Anemia Hemolytic Microangiopathic 50
Congenital Adamts-13 Deficiency 54
Upshaw Factor, Deficiency of 48
Deficiency of Upshaw Factor 70
Moschcowitz Disease 54
Moschkowitz Disease 70
Ttp, Congenital 48
Congenital Ttp 54
Familial Ttp 54

Characteristics:

Orphanet epidemiological data:

54
ttp:
Inheritance: Autosomal recessive,Multigenic/multifactorial; Prevalence: 1-9/1000000 (United States),1-5/10000 (Europe),1-9/1000000 (United Kingdom),1-9/1000000 (Europe); Age of onset: All ages; Age of death: any age
upshaw-schulman syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult,Childhood,Infancy,Neonatal; Age of death: any age

HPO:

64
thrombotic thrombocytopenic purpura, familial:
Inheritance: autosomal recessive inheritance, heterogeneous

Classifications:



External Ids:

OMIM52 274150
MESH via Orphanet40 D011697
UMLS via Orphanet69 C0034155
ICD10 via Orphanet31 M31.1, M31.3
MeSH39 D011697

Summaries for Thrombotic Thrombocytopenic Purpura, Familial

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NIH Rare Diseases:48 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 microangiopathic hemolytic anemia, is related to thrombotic thrombocytopenic purpura, acquired and thrombotic thrombocytopenic purpura, and has symptoms including fever, fever and tremor. An important gene associated with Thrombotic Thrombocytopenic Purpura, Familial is ADAMTS13 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 13). Affiliated tissues include skin, kidney and heart, and related mouse phenotype pigmentation.

UniProtKB/Swiss-Prot:70 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.

OMIM:52 The classic pentad of TTP includes hemolytic anemia with fragmentation of erythrocytes, thrombocytopenia, diffuse and... (274150) more...

Related Diseases for Thrombotic Thrombocytopenic Purpura, Familial

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



Diseases related to thrombotic thrombocytopenic purpura, familial

Symptoms & Phenotypes for Thrombotic Thrombocytopenic Purpura, Familial

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Symptoms by clinical synopsis from OMIM:

274150

Clinical features from OMIM:

274150

Human phenotypes related to Thrombotic Thrombocytopenic Purpura, Familial:

 64 (show all 15)
id Description HPO Frequency HPO Source Accession
1 proteinuria64 HP:0000093
2 confusion64 HP:0001289
3 tremor64 HP:0001337
4 thrombocytopenia64 HP:0001873
5 reticulocytosis64 HP:0001923
6 microangiopathic hemolytic anemia64 HP:0001937
7 fever64 HP:0001945
8 schistocytosis64 HP:0001981
9 respiratory distress64 HP:0002098
10 increased serum lactate64 HP:0002151
11 microscopic hematuria64 HP:0002907
12 increased blood urea nitrogen64 HP:0003138
13 elevated serum creatinine64 HP:0003259
14 hemolytic-uremic syndrome64 HP:0005575
15 prolonged neonatal jaundice64 HP:0006579

UMLS symptoms related to Thrombotic Thrombocytopenic Purpura, Familial:


fever, tremor, reduced consciousness/confusion

MGI Mouse Phenotypes related to Thrombotic Thrombocytopenic Purpura, Familial according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.0ADAMTS13, CFH

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 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
rituximabapprovedPhase 21692174722-31-710201696
Synonyms:
AntiCD20
IDEC-102
IDEC-C2B8
 
Ig gamma-1 chain C region
MabThera
Mabthera
Rituxan
rituximab
2Antirheumatic AgentsPhase 210956
3
Aspirinapproved, vet_approved115250-78-22244
Synonyms:
11126-35-5
11126-37-7
1oxr
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
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
Acetylsalicylsäure
Acetylsalycilic acid
Acetyonyl
Acetysal
Acetysalicylic acid
Acide acetylsalicylique
Acido O-acetil-benzoico
Acido acetilsalicilico
Acidum acetylsalicylicum
Acimetten
Acisal
Acylpyrin
Adiro
Aloxiprimum
Asacard
Asagran
Asatard
Ascoden-30
Aspalon
Aspec
Aspergum
Aspir-Mox
Aspirdrops
Aspirin
Aspirin (JP15/USP)
Aspirin [BAN:JAN]
Aspirina 03
Aspirine
Asprin
Aspro
Aspro Clear
Asteric
Azetylsalizylsaeure
Azetylsalizylsäure
BIDD:GT0118
BRN 0779271
Bay-e-4465
Bayer
Bayer Aspirin 8 Hour
Bayer Buffered
Bayer Extra Strength Aspirin For Migraine Pain
Bayer Plus
Benaspir
Bi-prin
Bialpirina
Bialpirinia
Bufferin
C01405
CCRIS 3243
CHEBI:15365
CHEMBL25
CID2244
Caprin
Cardioaspirin
Cardioaspirina
Cemirit
Claradin
Clariprin
Colfarit
Contrheuma retard
Coricidin
Crystar
D00109
D001241
DB00945
Decaten
Delgesic
Dispril
DivK1c_000555
Dolean pH 8
Duramax
ECM
EINECS 200-064-1
EU-0100038
Easprin
Easprin (TN)
Ecolen
Ecotrin
Empirin
Empirin with Codeine
Endosprin
Endydol
Entericin
Enterophen
 
Enterosarein
Enterosarine
Entrophen
Extren
Globentyl
Globoid
HMS1920E13
HMS2090G03
HMS2091K13
HMS501L17
HSDB 652
Helicon
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
Kyselina 2-acetoxybenzoova
Kyselina acetylsalicylova
LS-143
Levius
Lopac-A-5376
Lopac0_000038
MLS001055329
MLS001066332
MLS001336045
MLS001336046
Magnecyl
Measurin
Medisyl
Micristin
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
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
Persistin
Pharmacin
Pirseal
Polopirin
Polopiryna
Premaspin
R16CO5Y76E [UNII]
Rheumin tabletten
Rheumintabletten
Rhodine
Rhonal
Ronal
S-211
SMR000059138
SP 189
SPBio_001838
SPECTRUM1500130
ST075414
Salacetin
Salcetogen
Saletin
Salicylic acid acetate
Salicylic acid, acetate
Salospir
Solfrin
Solprin
Solprin acid
Solpyron
Solupsan
Spectrum2_001899
Spectrum3_001295
Spectrum4_000099
Spectrum5_000740
Spectrum_001245
Spira-Dine
St. Joseph
St. Joseph Aspirin for Adults
Supac
Tasprin
Temperal
Toldex
Triaminicin
Triple-sal
UNII R16CO5Y76E
UNII-R16CO5Y76E
UNII=R16CO5Y76E
UNM-0000306102
Vanquish
WLN: QVR BOV1
XAXA
Xaxa
Yasta
ZORprin
acide 2-(acétyloxy)benzoïque
acide acétylsalicylique
aspirin
cMAP_000006
component of Midol
component of Synirin
nchem.859-comp6
o-Acetoxybenzoic acid
o-Carboxyphenyl acetate
o-acetoxybenzoic acid
o-carboxyphenyl acetate
salicylic acid acetate
ácido acetilsalicílico
4N-Methylaspartate108
5
Bilirubin116635-65-45280352
Synonyms:
(4Z,15Z)-Bilirubin IXa
(Z,Z)-Bilirubin IXa
1,10,19,22,23,24-Hexahydro-2,7,13,17-tetramethyl-1,19-dioxo-3,18-divinyl-Biline-8,12-dipropionate
1,10,19,22,23,24-Hexahydro-2,7,13,17-tetramethyl-1,19-dioxo-3,18-divinyl-Biline-8,12-dipropionic acid
2,17-Diethenyl-1,10,19,22,23,24-hexahydro-3,7,13,18-tetramethyl-1,19-dioxo-21H-Biline-8,12-dipropanoate
2,17-Diethenyl-1,10,19,22,23,24-hexahydro-3,7,13,18-tetramethyl-1,19-dioxo-21H-Biline-8,12-dipropanoic acid
3-(2-((3-(2-Carboxyethyl)-4-methyl-5-((3-methyl-5-oxo-4-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene)methyl)-1H-pyrrol-2-yl)methyl)-4-methyl-5-((4-methyl-5-oxo-3-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene)methyl)-1H-pyrrol-3-yl)propanoate
3-(2-((3-(2-Carboxyethyl)-4-methyl-5-((3-methyl-5-oxo-4-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene)methyl)-1H-pyrrol-2-yl)methyl)-4-methyl-5-((4-methyl-5-oxo-3-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene)methyl)-1H-pyrrol-3-yl)propanoic acid
 
3-(2-((3-(2-Carboxyethyl)-4-methyl-5-[(Z)-(3-methyl-5-oxo-4-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene)methyl]-1H-pyrrol-2-yl)methyl)-4-methyl-5-[(Z)-(4-methyl-5-oxo-3-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene
3-[2-[[3-(2-Carboxyethyl)-5-[(3-ethenyl-4-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-2-yl]methyl]-5-[(4-ethenyl-3-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-3-yl]propanoate
3-[2-[[3-(2-Carboxyethyl)-5-[(3-ethenyl-4-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-2-yl]methyl]-5-[(4-ethenyl-3-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-3-yl]propanoic acid
3-[2-[[3-(2-Carboxyethyl)-5-[(Z)-(3-ethenyl-4-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-2-yl]methyl]-5-[(Z)-(4-ethenyl-3-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-3-yl]propanoate
3-[2-[[3-(2-Carboxyethyl)-5-[(Z)-(3-ethenyl-4-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-2-yl]methyl]-5-[(Z)-(4-ethenyl-3-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-3-yl]propanoic acid
Bilirubin
Bilirubin IX-alpha
Cholerythrin
Hematoidin
6Aspartic AcidNutraceutical108

Interventional clinical trials:

(show all 12)
idNameStatusNCT IDPhase
1Prophylactic Plasma Infusion Therapy for Congenital Thrombotic Thrombocytopenic PurpuraWithdrawnNCT01754545Phase 4
2Rituximab in Adult Acquired Idiopathic Thrombotic Thrombocytopenic PurpuraCompletedNCT00907751Phase 2
3Clinical Outcome Study of ARC1779 Injection in Patients With Thrombotic MicroangiopathyTerminatedNCT00726544Phase 2
4Levels of Von Willebrand Factor Multimers and VWF-Cleaving Protease (ADAMTS-13) in Preterm and NeonateUnknown statusNCT00701610
5Cohort of Children With Acute Immune or Idiopathic Thrombocytopenic Purpura (ITP) : a Prospective Study in Pays De La LoireUnknown statusNCT00331357
6ADAMTS13 in Thrombotic Thrombocytopenic PurpuraCompletedNCT00426686
7Promacta Pregnancy RegistryCompletedNCT01064336
8Genotype and Phenotype Correlation in Hereditary Thrombotic Thrombocytopenic Purpura (Upshaw-Schulman Syndrome)RecruitingNCT01257269
9Women Specific Cardiac Recovery After PreeclampsiaRecruitingNCT02807324
10The Role of Microparticles as a BiomarkerEnrolling by invitationNCT02626663
11International Registry and Biorepository for TMA(Thrombotic Microangiopathy)TerminatedNCT00593229
12Single Incision Versus Standard Laparoscopic SplenectomyWithdrawnNCT01276561

Search NIH Clinical Center for Thrombotic Thrombocytopenic Purpura, Familial

Genetic Tests for Thrombotic Thrombocytopenic Purpura, Familial

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Genetic tests related to Thrombotic Thrombocytopenic Purpura, Familial:

id Genetic test Affiliating Genes
1 Upshaw-Schulman Syndrome27
2 Microangiopathic Hemolytic Anemia27

Anatomical Context for Thrombotic Thrombocytopenic Purpura, Familial

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

36
Skin, Kidney, Heart, Brain, Eye

Publications for Thrombotic Thrombocytopenic Purpura, Familial

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Articles related to Thrombotic Thrombocytopenic Purpura, Familial:

idTitleAuthorsYear
1
Single-nucleotide variations defining previously unreported ADAMTS13 haplotypes are associated with differential expression and activity of the VWF-cleaving protease in a Salvadoran congenital thrombotic thrombocytopenic purpura family. (24433405)
2014

Variations for Thrombotic Thrombocytopenic Purpura, Familial

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

70 (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 22)
id Gene Variation Type Significance SNP ID Assembly Location
1ADAMTS13NM_ 139025.4(ADAMTS13): c.3541delG (p.Gln1183Argfs)deletionLikely pathogenicrs1060499780GRCh38Chr 9, 133455576: 133455576
2ADAMTS13NM_ 139025.4(ADAMTS13): c.286C> G (p.His96Asp)SNVPathogenicrs121908467GRCh37Chr 9, 136289554: 136289554
3ADAMTS13NM_ 139025.4(ADAMTS13): c.2851T> G (p.Cys951Gly)SNVPathogenicrs121908468GRCh37Chr 9, 136313839: 136313839
4ADAMTS13NM_ 139025.4(ADAMTS13): c.304C> T (p.Arg102Cys)SNVPathogenicrs121908469GRCh37Chr 9, 136289572: 136289572
5ADAMTS13NM_ 139025.4(ADAMTS13): c.587C> T (p.Thr196Ile)SNVPathogenicrs121908470GRCh37Chr 9, 136291366: 136291366
6ADAMTS13NM_ 139025.4(ADAMTS13): c.1193G> A (p.Arg398His)SNVPathogenicrs121908471GRCh37Chr 9, 136298598: 136298598
7ADAMTS13NM_ 139025.4(ADAMTS13): c.3070T> G (p.Cys1024Gly)SNVPathogenicrs121908472GRCh37Chr 9, 136319562: 136319562
8ADAMTS13NM_ 139025.4(ADAMTS13): c.1582A> G (p.Arg528Gly)SNVPathogenicrs121908473GRCh37Chr 9, 136303015: 136303015
9ADAMTS13NM_ 139025.4(ADAMTS13): c.3770dupT (p.Leu1258Valfs)duplicationPathogenicrs387906341GRCh37Chr 9, 136321719: 136321719
10ADAMTS13NM_ 139025.4(ADAMTS13): c.2376_ 2401del26 (p.Ala793Profs)deletionPathogenicrs387906342GRCh37Chr 9, 136308638: 136308663
11ADAMTS13NM_ 139025.4(ADAMTS13): c.4143dupA (p.Glu1382Argfs)duplicationPathogenicrs387906343GRCh37Chr 9, 136324161: 136324161
12ADAMTS13NM_ 139025.4(ADAMTS13): c.3638G> A (p.Cys1213Tyr)SNVPathogenicrs121908474GRCh37Chr 9, 136321260: 136321260
13ADAMTS13NM_ 139025.4(ADAMTS13): c.2074C> T (p.Arg692Cys)SNVPathogenicrs121908475GRCh37Chr 9, 136307625: 136307625
14ADAMTS13ADAMTS13, IVS13DS, G-A, +5SNVPathogenic
15ADAMTS13NM_ 139025.4(ADAMTS13): c.1345C> T (p.Gln449Ter)SNVPathogenicrs121908476GRCh37Chr 9, 136301985: 136301985
16ADAMTS13NM_ 139025.4(ADAMTS13): c.803G> C (p.Arg268Pro)SNVPathogenicrs121908477GRCh37Chr 9, 136293870: 136293870
17ADAMTS13NM_ 139025.4(ADAMTS13): c.1783_ 1784delTT (p.Leu595Glyfs)deletionPathogenicrs387906344GRCh37Chr 9, 136304564: 136304565
18ADAMTS13NM_ 139025.4(ADAMTS13): c.414+1G> ASNVPathogenicrs786205077GRCh37Chr 9, 136290733: 136290733
19ADAMTS13NM_ 139025.4(ADAMTS13): c.749C> T (p.Ala250Val)SNVPathogenicrs121908478GRCh37Chr 9, 136293816: 136293816
20ADAMTS13NM_ 139025.4(ADAMTS13): c.331-1G> ASNVPathogenicrs786205078GRCh37Chr 9, 136290648: 136290648
21ADAMTS13NM_ 139025.4(ADAMTS13): c.291_ 319del29 (p.Glu98Profs)deletionPathogenicrs387906345GRCh37Chr 9, 136289559: 136289587
22ADAMTS13NM_ 139025.4(ADAMTS13): c.2930_ 2935delGTGCCC (p.Cys977_ Arg979delinsTrp)deletionPathogenicrs387906346GRCh37Chr 9, 136314972: 136314977

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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Cellular components related to Thrombotic Thrombocytopenic Purpura, Familial according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:00725629.9CFH, HP
2extracellular regionGO:00055769.2ADAMTS13, CFH, HP
3extracellular spaceGO:00056158.5ADAMTS13, CFH, HP

Sources for Thrombotic Thrombocytopenic Purpura, Familial

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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