MCID: THR045
MIFTS: 48

Thrombotic Thrombocytopenic Purpura, Congenital

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

Aliases & Classifications for Thrombotic Thrombocytopenic Purpura, Congenital

MalaCards integrated aliases for Thrombotic Thrombocytopenic Purpura, Congenital:

Name: Thrombotic Thrombocytopenic Purpura, Congenital 57 53
Upshaw-Schulman Syndrome 57 53 59 75 29 6
Microangiopathic Hemolytic Anemia 57 53 75 29 73
Thrombotic Thrombocytopenic Purpura, Familial 57 53 13
Thrombotic Microangiopathy, Familial 57 76 53
Schulman-Upshaw Syndrome 57 53 75
Ttp 57 59 75
Uss 57 53 75
Congenital Thrombotic Thrombocytopenic Purpura 59 73
Microangiopathic Hemolytic Anemia, Congenital 57 53
Upshaw Factor, Deficiency of 57 53
Thrombocytopenic Purpura, Thrombotic, Congenital 40
Thrombotic Thrombocytopenic Purpura Congenital 75
Microangiopathic Hemolytic Anemia Congenital 75
Thrombotic Thrombocytopenic Purpura Familial 75
Purpura, Thrombotic Thrombocytopenic 73
Thrombotic Thrombocytopenic Purpura 59
Thrombotic Microangiopathy Familial 75
Anemia Hemolytic Microangiopathic 55
Congenital Adamts-13 Deficiency 59
Upshaw-Schulman Syndrome; Uss 57
Deficiency of Upshaw Factor 75
Moschkowitz Disease 75
Moschcowitz Disease 59
Ttp, Congenital 53
Congenital Ttp 59
Familial Ttp 59

Characteristics:

Orphanet epidemiological data:

59
thrombotic thrombocytopenic purpura
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;
congenital thrombotic thrombocytopenic purpura
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult,Childhood,Infancy,Neonatal; Age of death: any age;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity
triggered by pregnancy, drugs, chemotherapy, cancer, bone marrow transplantation, infection
familial form - constitutional deficiency of vwf-cleaving protease
acquired form - presence of inhibiting autoantibody (igg) to vwf-cleaving protease
in adults, may be considered part of a spectrum with hemolytic-uremic syndrome (hus, )


HPO:

32
thrombotic thrombocytopenic purpura, congenital:
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 274150
MESH via Orphanet 45 D011697
UMLS via Orphanet 74 C0034155 C1268935
ICD10 via Orphanet 34 M31.1
MeSH 44 D011697

Summaries for Thrombotic Thrombocytopenic Purpura, Congenital

NIH Rare Diseases : 53 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.

MalaCards based summary : Thrombotic Thrombocytopenic Purpura, Congenital, also known as upshaw-schulman syndrome, is related to thrombotic thrombocytopenic purpura and cognitive function 1, social, and has symptoms including fever and tremor. An important gene associated with Thrombotic Thrombocytopenic Purpura, Congenital is ADAMTS13 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 13). The drugs Antibodies and Antibodies, Bispecific have been mentioned in the context of this disorder. Affiliated tissues include kidney, brain and heart, and related phenotypes are proteinuria and fever

OMIM : 57 The classic pentad of TTP includes hemolytic anemia with fragmentation of erythrocytes, thrombocytopenia, diffuse and nonfocal neurologic findings, decreased renal function, and fever. Congenital TTP, also known as Schulman-Upshaw syndrome, is characterized by neonatal onset, response to fresh plasma infusion, and frequent relapses (Savasan et al., 2003; Kokame et al., 2002). Acquired TTP, which is usually sporadic, usually occurs in adults and is caused by an IgG inhibitor against the von Willebrand factor-cleaving protease. (274150)

UniProtKB/Swiss-Prot : 75 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.

Wikipedia : 76 Thrombotic thrombocytopenic purpura (TTP) is a rare disorder of the blood-coagulation system, causing... more...

Related Diseases for Thrombotic Thrombocytopenic Purpura, Congenital

Diseases in the Thrombotic Thrombocytopenic Purpura family:

Thrombotic Thrombocytopenic Purpura, Congenital Thrombotic Thrombocytopenic Purpura, Acquired

Diseases related to Thrombotic Thrombocytopenic Purpura, Congenital via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 thrombotic thrombocytopenic purpura 29.3 ADAMTS13 CFH
2 cognitive function 1, social 9.9
3 gastroenteritis 9.9
4 pernicious anemia 9.9
5 evans' syndrome 9.8 ADAMTS13 HP
6 autoimmune disease of blood 9.8 ADAMTS13 HP
7 bilirubin metabolic disorder 9.6 ADAMTS13 HP
8 catastrophic antiphospholipid syndrome 9.4 ADAMTS13 CFH
9 acute kidney failure 9.3 ADAMTS13 CFH
10 malaria 9.2 ADAMTS13 HP
11 hemolytic-uremic syndrome 9.1 ADAMTS13 CFH
12 hellp syndrome 8.9 ADAMTS13 CFH HP
13 hemolytic anemia 8.9 ADAMTS13 CFH HP

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



Diseases related to Thrombotic Thrombocytopenic Purpura, Congenital

Symptoms & Phenotypes for Thrombotic Thrombocytopenic Purpura, Congenital

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
tremor
confusion
fluctuating neurologic signs
focal neurologic signs
disturbances of consciousness

Metabolic Features:
fever

Abdomen Liver:
jaundice, neonatal

Respiratory Lung:
acute respiratory distress syndrome (uncommon)

Laboratory Abnormalities:
proteinuria
microscopic hematuria
increased blood urea nitrogen (bun)
decreased hemoglobin
increased creatinine
more
Hematology:
thrombocytopenia
reticulocytosis
schistocytes
microangiopathic hemolytic anemia (coomb negative)
thrombotic microangiopathy (hyaline thrombi of platelets and fibrin in terminal arterioles and capillaries)

Skin Nails Hair Skin:
jaundice, neonatal

Genitourinary Kidneys:
renal dysfunction


Clinical features from OMIM:

274150

Human phenotypes related to Thrombotic Thrombocytopenic Purpura, Congenital:

59 32 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 proteinuria 59 32 Occasional (29-5%) HP:0000093
2 fever 59 32 Occasional (29-5%) HP:0001945
3 thrombocytopenia 59 32 Very frequent (99-80%) HP:0001873
4 reticulocytosis 59 32 Very frequent (99-80%) HP:0001923
5 confusion 59 32 Frequent (79-30%) HP:0001289
6 microangiopathic hemolytic anemia 59 32 Very frequent (99-80%) HP:0001937
7 seizures 59 Frequent (79-30%)
8 tremor 32 HP:0001337
9 renal insufficiency 59 Occasional (29-5%)
10 dyspnea 59 Very frequent (99-80%)
11 generalized muscle weakness 59 Very frequent (99-80%)
12 arrhythmia 59 Occasional (29-5%)
13 myocardial infarction 59 Occasional (29-5%)
14 abdominal pain 59 Frequent (79-30%)
15 respiratory distress 32 occasional (7.5%) HP:0002098
16 jaundice 32 HP:0000952
17 increased serum lactate 32 HP:0002151
18 hematuria 59 Occasional (29-5%)
19 coma 59 Frequent (79-30%)
20 abnormality of the nervous system 59 Occasional (29-5%)
21 elevated serum creatinine 32 HP:0003259
22 abnormal lactate dehydrogenase activity 59 Frequent (79-30%)
23 diarrhea 59 Frequent (79-30%)
24 stroke 59 Frequent (79-30%)
25 headache 59 Frequent (79-30%)
26 acute kidney injury 59 Very rare (<4-1%)
27 prolonged neonatal jaundice 32 HP:0006579
28 increased blood urea nitrogen 32 HP:0003138
29 microscopic hematuria 32 HP:0002907
30 decreased serum creatinine 59 Very rare (<4-1%)
31 hemolytic-uremic syndrome 32 HP:0005575
32 schistocytosis 32 HP:0001981

UMLS symptoms related to Thrombotic Thrombocytopenic Purpura, Congenital:


fever, tremor

MGI Mouse Phenotypes related to Thrombotic Thrombocytopenic Purpura, Congenital:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.62 ADAMTS13 CFH

Drugs & Therapeutics for Thrombotic Thrombocytopenic Purpura, Congenital

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

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies Phase 3
2 Antibodies, Bispecific Phase 3
3 Coagulants Phase 3
4 Factor VIII Phase 3
5 Immunoglobulins Phase 3
6
rituximab Approved Phase 2 174722-31-7 10201696
7 Antirheumatic Agents Phase 2
8
Bilirubin 635-65-4 5280352
9 N-Methylaspartate
10 Aspartic Acid Nutraceutical

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prophylactic Plasma Infusion Therapy for Congenital Thrombotic Thrombocytopenic Purpura Withdrawn NCT01754545 Phase 4 Octaplas infusion and placebo (group 1);Octaplas infusion and placebo (group 2)
2 A Study to Evaluate the Safety and Tolerability of Prophylactic Emicizumab in Hemophilia A Patients With Inhibitors Recruiting NCT03191799 Phase 3 Emicizumab
3 A Phase 3, Randomized, Controlled Study of Prophylactic and On-demand Treatment of cTTP With BAX 930 (rADAMTS13) Active, not recruiting NCT03393975 Phase 3
4 Rituximab in Adult Acquired Idiopathic Thrombotic Thrombocytopenic Purpura Completed NCT00907751 Phase 2 rituximab
5 Clinical Outcome Study of ARC1779 Injection in Patients With Thrombotic Microangiopathy Terminated NCT00726544 Phase 2 ARC 1779 Placebo;ARC1779 Injection;ARC1779 Injection;ARC1779 Injection
6 ADAMTS13 in Thrombotic Thrombocytopenic Purpura Completed NCT00426686
7 Genotype and Phenotype Correlation in Hereditary Thrombotic Thrombocytopenic Purpura (Upshaw-Schulman Syndrome) Recruiting NCT01257269
8 Women Specific Cardiac Recovery After Preeclampsia Recruiting NCT02807324
9 The Role of Microparticles as a Biomarker Enrolling by invitation NCT02626663
10 Prospective Psychometric Evaluation Study of a Patient-reported Outcomes (PRO) Instrument for Congenital Thrombotic Thrombocytopenic Purpura (cTTP, Upshaw-Schulman Syndrome [USS], Hereditary Thrombotic Thrombocytopenic Purpura [hTTP] Not yet recruiting NCT03519672

Search NIH Clinical Center for Thrombotic Thrombocytopenic Purpura, Congenital

Genetic Tests for Thrombotic Thrombocytopenic Purpura, Congenital

Genetic tests related to Thrombotic Thrombocytopenic Purpura, Congenital:

# Genetic test Affiliating Genes
1 Upshaw-Schulman Syndrome 29 ADAMTS13
2 Microangiopathic Hemolytic Anemia 29

Anatomical Context for Thrombotic Thrombocytopenic Purpura, Congenital

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

41
Kidney, Brain, Heart, Skin, Eye, Bone, Bone Marrow

Publications for Thrombotic Thrombocytopenic Purpura, Congenital

Articles related to Thrombotic Thrombocytopenic Purpura, Congenital:

(show all 26)
# Title Authors Year
1
Successful kidney transplantation in a patient with congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome). ( 28940540 )
2017
2
Congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome) caused by novel ADAMTS13 mutations. ( 26085195 )
2016
3
Inherited Thrombotic Thrombocytopenic Purpura (Upshaw Schulman Syndrome) as Differential Diagnosis to Neonatal Septicaemia with Disseminated Intravascular Coagulation - a Case Series. ( 27383044 )
2016
4
Congenital thrombotic thrombocytopenic purpura: Upshaw-Schulman syndrome: a cause of neonatal death and review of literature. ( 26365135 )
2015
5
Inherited ADAMTS13 deficiency (Upshaw-Schulman syndrome): a short review. ( 25242241 )
2014
6
Case of maternal and fetal deaths due to severe congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome) during pregnancy. ( 23937165 )
2014
7
A novel mutation in ADAMTS13 of a child with Upshaw-Schulman Syndrome. ( 25057114 )
2014
8
Long term follow up of congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome) on hemodialysis for 19 years: a case report. ( 23870247 )
2013
9
A first bout of thrombotic thrombocytopenic purpura triggered by herpes simplex infection in a 45-year-old nulliparous female with Upshaw-Schulman syndrome. ( 24120584 )
2013
10
Pregnancy in Upshaw-Schulman syndrome. ( 23715104 )
2013
11
The homozygous p.C1024R- ADAMTS13 gene mutation links to a late-onset phenotype of Upshaw-Schulman syndrome in Japan. ( 22398507 )
2012
12
Unexpected frequency of Upshaw-Schulman syndrome in pregnancy-onset thrombotic thrombocytopenic purpura. ( 22547583 )
2012
13
Natural history of Upshaw-Schulman syndrome based on ADAMTS13 gene analysis in Japan. ( 21781265 )
2011
14
Polymorphisms and mutations of ADAMTS13 in the Japanese population and estimation of the number of patients with Upshaw-Schulman syndrome. ( 21676167 )
2011
15
Image in medicine. A case of congenital haemolytic anaemia and thrombocytopenia. Upshaw-Schulman syndrome (congenital thrombotic thrombocytopenic purpura). ( 20838713 )
2010
16
Pregnancy-induced thrombocytopenia and TTP, and the risk of fetal death, in Upshaw-Schulman syndrome: a series of 15 pregnancies in 9 genotyped patients. ( 19055667 )
2009
17
Inherited and de novo mutations of ADAMTS13 in a patient with Upshaw-Schulman syndrome. ( 17988227 )
2008
18
Quantitative Western blot analysis of plasma ADAMTS13 antigen in patients with Upshaw-Schulman syndrome. ( 17030346 )
2007
19
Molecular characterization of four ADAMTS13 mutations responsible for congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome). ( 17849048 )
2007
20
Novel compound heterozygote mutations (H234Q/R1206X) of the ADAMTS13 gene in an adult patient with Upshaw-Schulman syndrome showing predominant episodes of repeated acute renal failure. ( 16449289 )
2006
21
Ten candidate ADAMTS13 mutations in six French families with congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome). ( 15009458 )
2004
22
Molecular characterization of ADAMTS13 gene mutations in Japanese patients with Upshaw-Schulman syndrome. ( 14563640 )
2004
23
Von Willebrand factor-cleaving protease and Upshaw-Schulman syndrome. ( 11843286 )
2002
24
Deficient activity of von Willebrand factor-cleaving protease in patients with Upshaw-Schulman syndrome. ( 11530799 )
2001
25
Upshaw-Schulman syndrome revisited: a concept of congenital thrombotic thrombocytopenic purpura. ( 11530798 )
2001
26
Plasma of patients with Upshaw-Schulman syndrome, a congenital deficiency of von Willebrand factor-cleaving protease activity, enhances the aggregation of normal platelets under high shear stress. ( 11843838 )
2001

Variations for Thrombotic Thrombocytopenic Purpura, Congenital

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

75 (show all 43)
# Symbol AA change Variation ID SNP ID
1 ADAMTS13 p.Val88Met VAR_027110 rs281875302
2 ADAMTS13 p.His96Asp VAR_027111 rs121908467
3 ADAMTS13 p.Arg102Cys VAR_027112 rs121908469
4 ADAMTS13 p.Arg193Trp VAR_027113 rs281875287
5 ADAMTS13 p.Thr196Ile VAR_027114 rs121908470
6 ADAMTS13 p.His234Gln VAR_027115 rs281875304
7 ADAMTS13 p.Ala250Val VAR_027116 rs121908478
8 ADAMTS13 p.Arg268Pro VAR_027117 rs121908477
9 ADAMTS13 p.Trp390Cys VAR_027118 rs281875306
10 ADAMTS13 p.Arg398His VAR_027119 rs121908471
11 ADAMTS13 p.Cys508Tyr VAR_027122 rs281875305
12 ADAMTS13 p.Arg528Gly VAR_027123 rs121908473
13 ADAMTS13 p.Ile673Phe VAR_027126 rs281875307
14 ADAMTS13 p.Arg692Cys VAR_027127 rs121908475
15 ADAMTS13 p.Cys908Tyr VAR_027131 rs281875301
16 ADAMTS13 p.Cys951Gly VAR_027132 rs121908468
17 ADAMTS13 p.Cys1024Gly VAR_027133 rs121908472
18 ADAMTS13 p.Arg1123Cys VAR_027136 rs281875340
19 ADAMTS13 p.Cys1213Tyr VAR_027137 rs121908474
20 ADAMTS13 p.Gly1239Val VAR_027138 rs281875303
21 ADAMTS13 p.Arg1336Trp VAR_027139 rs281875308
22 ADAMTS13 p.Ile79Met VAR_067770 rs281875297
23 ADAMTS13 p.Ser119Phe VAR_067771 rs281875291
24 ADAMTS13 p.Ile178Thr VAR_067772 rs281875289
25 ADAMTS13 p.Ser203Pro VAR_067773 rs281875298
26 ADAMTS13 p.Leu232Gln VAR_067774 rs281875292
27 ADAMTS13 p.Asp235His VAR_067775 rs281875337
28 ADAMTS13 p.Ser263Cys VAR_067776 rs281875293
29 ADAMTS13 p.Tyr304Cys VAR_067777 rs281875285
30 ADAMTS13 p.Cys311Tyr VAR_067778 rs281875336
31 ADAMTS13 p.Cys347Ser VAR_067780 rs281875294
32 ADAMTS13 p.Arg349Cys VAR_067781 rs281875288
33 ADAMTS13 p.Pro353Leu VAR_067782 rs281875338
34 ADAMTS13 p.Arg507Gln VAR_067783 rs281875296
35 ADAMTS13 p.Gly525Asp VAR_067784 rs281875286
36 ADAMTS13 p.Ala596Val VAR_067785 rs281875299
37 ADAMTS13 p.Ala606Pro VAR_067786 rs281875290
38 ADAMTS13 p.Tyr658Cys VAR_067787 rs281875335
39 ADAMTS13 p.Pro671Leu VAR_067788 rs281875295
40 ADAMTS13 p.Cys758Arg VAR_067789 rs281875300
41 ADAMTS13 p.Cys908Ser VAR_067790 rs281875301
42 ADAMTS13 p.Arg1060Trp VAR_067792 rs142572218
43 ADAMTS13 p.Arg1219Trp VAR_067793 rs281875339

ClinVar genetic disease variations for Thrombotic Thrombocytopenic Purpura, Congenital:

6
(show top 50) (show all 168)
# Gene Variation Type Significance SNP ID Assembly Location
1 ADAMTS13 NM_139025.4(ADAMTS13): c.286C> G (p.His96Asp) single nucleotide variant Pathogenic rs121908467 GRCh37 Chromosome 9, 136289554: 136289554
2 ADAMTS13 NM_139025.4(ADAMTS13): c.286C> G (p.His96Asp) single nucleotide variant Pathogenic rs121908467 GRCh38 Chromosome 9, 133424434: 133424434
3 ADAMTS13 NM_139025.4(ADAMTS13): c.2851T> G (p.Cys951Gly) single nucleotide variant Pathogenic rs121908468 GRCh37 Chromosome 9, 136313839: 136313839
4 ADAMTS13 NM_139025.4(ADAMTS13): c.2851T> G (p.Cys951Gly) single nucleotide variant Pathogenic rs121908468 GRCh38 Chromosome 9, 133448718: 133448718
5 ADAMTS13 NM_139025.4(ADAMTS13): c.304C> T (p.Arg102Cys) single nucleotide variant Pathogenic rs121908469 GRCh37 Chromosome 9, 136289572: 136289572
6 ADAMTS13 NM_139025.4(ADAMTS13): c.304C> T (p.Arg102Cys) single nucleotide variant Pathogenic rs121908469 GRCh38 Chromosome 9, 133424452: 133424452
7 ADAMTS13 NM_139025.4(ADAMTS13): c.587C> T (p.Thr196Ile) single nucleotide variant Pathogenic rs121908470 GRCh37 Chromosome 9, 136291366: 136291366
8 ADAMTS13 NM_139025.4(ADAMTS13): c.587C> T (p.Thr196Ile) single nucleotide variant Pathogenic rs121908470 GRCh38 Chromosome 9, 133426246: 133426246
9 ADAMTS13 NM_139025.4(ADAMTS13): c.1193G> A (p.Arg398His) single nucleotide variant Pathogenic rs121908471 GRCh37 Chromosome 9, 136298598: 136298598
10 ADAMTS13 NM_139025.4(ADAMTS13): c.1193G> A (p.Arg398His) single nucleotide variant Pathogenic rs121908471 GRCh38 Chromosome 9, 133433478: 133433478
11 ADAMTS13 NM_139025.4(ADAMTS13): c.1193G> A (p.Arg398His) single nucleotide variant Pathogenic rs121908471 NCBI36 Chromosome 9, 135288419: 135288419
12 ADAMTS13 NM_139025.4(ADAMTS13): c.3070T> G (p.Cys1024Gly) single nucleotide variant Pathogenic rs121908472 GRCh37 Chromosome 9, 136319562: 136319562
13 ADAMTS13 NM_139025.4(ADAMTS13): c.3070T> G (p.Cys1024Gly) single nucleotide variant Pathogenic rs121908472 GRCh38 Chromosome 9, 133454440: 133454440
14 ADAMTS13 NM_139025.4(ADAMTS13): c.1582A> G (p.Arg528Gly) single nucleotide variant Pathogenic rs121908473 GRCh37 Chromosome 9, 136303015: 136303015
15 ADAMTS13 NM_139025.4(ADAMTS13): c.1582A> G (p.Arg528Gly) single nucleotide variant Pathogenic rs121908473 GRCh38 Chromosome 9, 133437895: 133437895
16 ADAMTS13 NM_139025.4(ADAMTS13): c.3770dupT (p.Leu1258Valfs) duplication Pathogenic rs387906341 GRCh37 Chromosome 9, 136321719: 136321719
17 ADAMTS13 NM_139025.4(ADAMTS13): c.3770dupT (p.Leu1258Valfs) duplication Pathogenic rs387906341 GRCh38 Chromosome 9, 133456597: 133456597
18 ADAMTS13 NM_139025.4(ADAMTS13): c.2376_2401del26 (p.Ala793Profs) deletion Pathogenic rs387906342 GRCh37 Chromosome 9, 136308638: 136308663
19 ADAMTS13 NM_139025.4(ADAMTS13): c.2376_2401del26 (p.Ala793Profs) deletion Pathogenic rs387906342 GRCh38 Chromosome 9, 133443517: 133443542
20 ADAMTS13 NM_139025.4(ADAMTS13): c.4143dupA (p.Glu1382Argfs) duplication Pathogenic rs387906343 GRCh37 Chromosome 9, 136324161: 136324161
21 ADAMTS13 NM_139025.4(ADAMTS13): c.4143dupA (p.Glu1382Argfs) duplication Pathogenic rs387906343 GRCh38 Chromosome 9, 133459039: 133459039
22 ADAMTS13 NM_139025.4(ADAMTS13): c.3638G> A (p.Cys1213Tyr) single nucleotide variant Pathogenic rs121908474 GRCh37 Chromosome 9, 136321260: 136321260
23 ADAMTS13 NM_139025.4(ADAMTS13): c.3638G> A (p.Cys1213Tyr) single nucleotide variant Pathogenic rs121908474 GRCh38 Chromosome 9, 133456138: 133456138
24 ADAMTS13 NM_139025.4(ADAMTS13): c.2074C> T (p.Arg692Cys) single nucleotide variant Pathogenic rs121908475 GRCh37 Chromosome 9, 136307625: 136307625
25 ADAMTS13 NM_139025.4(ADAMTS13): c.2074C> T (p.Arg692Cys) single nucleotide variant Pathogenic rs121908475 GRCh38 Chromosome 9, 133442504: 133442504
26 ADAMTS13 ADAMTS13, IVS13DS, G-A, +5 single nucleotide variant Pathogenic
27 ADAMTS13 NM_139025.4(ADAMTS13): c.1345C> T (p.Gln449Ter) single nucleotide variant Pathogenic rs121908476 GRCh37 Chromosome 9, 136301985: 136301985
28 ADAMTS13 NM_139025.4(ADAMTS13): c.1345C> T (p.Gln449Ter) single nucleotide variant Pathogenic rs121908476 GRCh38 Chromosome 9, 133436865: 133436865
29 ADAMTS13 NM_139025.4(ADAMTS13): c.803G> C (p.Arg268Pro) single nucleotide variant Pathogenic rs121908477 GRCh37 Chromosome 9, 136293870: 136293870
30 ADAMTS13 NM_139025.4(ADAMTS13): c.803G> C (p.Arg268Pro) single nucleotide variant Pathogenic rs121908477 GRCh38 Chromosome 9, 133428750: 133428750
31 ADAMTS13 NM_139025.4(ADAMTS13): c.1783_1784delTT (p.Leu595Glyfs) deletion Pathogenic rs387906344 GRCh37 Chromosome 9, 136304564: 136304565
32 ADAMTS13 NM_139025.4(ADAMTS13): c.1783_1784delTT (p.Leu595Glyfs) deletion Pathogenic rs387906344 GRCh38 Chromosome 9, 133439443: 133439444
33 ADAMTS13 NM_139025.4(ADAMTS13): c.414+1G> A single nucleotide variant Pathogenic rs786205077 GRCh37 Chromosome 9, 136290733: 136290733
34 ADAMTS13 NM_139025.4(ADAMTS13): c.414+1G> A single nucleotide variant Pathogenic rs786205077 GRCh38 Chromosome 9, 133425613: 133425613
35 ADAMTS13 NM_139025.4(ADAMTS13): c.749C> T (p.Ala250Val) single nucleotide variant Pathogenic rs121908478 GRCh37 Chromosome 9, 136293816: 136293816
36 ADAMTS13 NM_139025.4(ADAMTS13): c.749C> T (p.Ala250Val) single nucleotide variant Pathogenic rs121908478 GRCh38 Chromosome 9, 133428696: 133428696
37 ADAMTS13 NM_139025.4(ADAMTS13): c.331-1G> A single nucleotide variant Pathogenic rs786205078 GRCh37 Chromosome 9, 136290648: 136290648
38 ADAMTS13 NM_139025.4(ADAMTS13): c.331-1G> A single nucleotide variant Pathogenic rs786205078 GRCh38 Chromosome 9, 133425528: 133425528
39 ADAMTS13 NM_139025.4(ADAMTS13): c.291_319del29 (p.Glu98Profs) deletion Pathogenic rs387906345 GRCh37 Chromosome 9, 136289559: 136289587
40 ADAMTS13 NM_139025.4(ADAMTS13): c.291_319del29 (p.Glu98Profs) deletion Pathogenic rs387906345 GRCh38 Chromosome 9, 133424439: 133424467
41 ADAMTS13 NM_139025.4(ADAMTS13): c.2930_2935delGTGCCC (p.Cys977_Arg979delinsTrp) deletion Pathogenic rs387906346 GRCh37 Chromosome 9, 136314972: 136314977
42 ADAMTS13 NM_139025.4(ADAMTS13): c.2930_2935delGTGCCC (p.Cys977_Arg979delinsTrp) deletion Pathogenic rs387906346 GRCh38 Chromosome 9, 133449851: 133449856
43 ADAMTS13 NM_139025.4(ADAMTS13): c.577C> T (p.Arg193Trp) single nucleotide variant Likely pathogenic rs281875287 GRCh37 Chromosome 9, 136291356: 136291356
44 ADAMTS13 NM_139025.4(ADAMTS13): c.577C> T (p.Arg193Trp) single nucleotide variant Likely pathogenic rs281875287 GRCh38 Chromosome 9, 133426236: 133426236
45 ADAMTS13 NM_139025.4(ADAMTS13): c.2167C> A (p.Gln723Lys) single nucleotide variant Uncertain significance rs138014548 GRCh37 Chromosome 9, 136307797: 136307797
46 ADAMTS13 NM_139025.4(ADAMTS13): c.2167C> A (p.Gln723Lys) single nucleotide variant Uncertain significance rs138014548 GRCh38 Chromosome 9, 133442676: 133442676
47 ADAMTS13 NM_139025.4(ADAMTS13): c.19C> T (p.Arg7Trp) single nucleotide variant Likely benign rs34024143 GRCh37 Chromosome 9, 136287582: 136287582
48 ADAMTS13 NM_139025.4(ADAMTS13): c.19C> T (p.Arg7Trp) single nucleotide variant Likely benign rs34024143 GRCh38 Chromosome 9, 133422462: 133422462
49 ADAMTS13 NM_139025.4(ADAMTS13): c.354G> A (p.Pro118=) single nucleotide variant Likely benign rs28571612 GRCh37 Chromosome 9, 136290672: 136290672
50 ADAMTS13 NM_139025.4(ADAMTS13): c.354G> A (p.Pro118=) single nucleotide variant Likely benign rs28571612 GRCh38 Chromosome 9, 133425552: 133425552

Expression for Thrombotic Thrombocytopenic Purpura, Congenital

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

Pathways for Thrombotic Thrombocytopenic Purpura, Congenital

GO Terms for Thrombotic Thrombocytopenic Purpura, Congenital

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.33 ADAMTS13 CFH HP
2 extracellular space GO:0005615 9.13 ADAMTS13 CFH HP
3 blood microparticle GO:0072562 8.62 CFH HP

Sources for Thrombotic Thrombocytopenic Purpura, Congenital

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