TTP
MCID: THR045
MIFTS: 35

Thrombotic Thrombocytopenic Purpura, Congenital (TTP) malady

Nephrological, Blood, Genetic categories

Summaries for Thrombotic Thrombocytopenic Purpura, Congenital

Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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: Thrombotic Thrombocytopenic Purpura, Congenital, also known as thrombotic thrombocytopenic purpura, familial, is related to thrombotic thrombocytopenic purpura, acquired and hemolytic-uremic syndrome. An important gene associated with Thrombotic Thrombocytopenic Purpura, Congenital is ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif, 13). Affiliated tissues include brain, heart and kidney.

Description from OMIM:47 274150

Aliases & Classifications for Thrombotic Thrombocytopenic Purpura, Congenital

Sources:
49Orphanet, 61UMLS, 43NIH Rare Diseases, 22GTR, 47OMIM, 45Novoseek, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Nephrological, Blood


Characteristics (Orphanet epidemiological data):

49
thrombotic thrombocytopenic purpura:
Prevalence: 1-5/10000; Age of onset: Variable


Aliases & Descriptions:

thrombotic thrombocytopenic purpura, congenital 43
thrombotic thrombocytopenic purpura, familial 43 47
schulman-upshaw syndrome 43 22
congenital thrombotic thrombocytopenic purpura due to adamts-13 deficiency 49
congenital thrombotic thrombocytopenic purpura 61
microangiopathic hemolytic anemia, congenital 43
thrombotic microangiopathy, familial 43
purpura, thrombotic thrombocytopenic 61
thrombotic thrombocytopenic purpura 49
anemia hemolytic microangiopathic 45
microangiopathic hemolytic anemia 43
upshaw-schulman syndrome 49
moschcowitz disease 49
ttp 49


External Ids:

MESH via Orphanet36 D011697
ICD10 via Orphanet26 D69.4, M31.3
SNOMED-CT via Orphanet58 78129009
UMLS via Orphanet62 C0034155
OMIM47 274150

Related Diseases for Thrombotic Thrombocytopenic Purpura, Congenital

Sources:
17GeneCards, 18GeneDecks
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Diseases in the Thrombotic Thrombocytopenic Purpura, Congenital family:

thrombotic thrombocytopenic purpura thrombotic thrombocytopenic purpura, acquired

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

(show top 50)    (show all 130)
idRelated DiseaseScoreTop Affiliating Genes
1thrombotic thrombocytopenic purpura, acquired11.2
2hemolytic-uremic syndrome11.1
3systemic lupus erythematosus10.9
4autoimmune thrombocytopenic purpura10.8
5thrombocytopenia10.7
6acute pancreatitis10.7
7mixed connective tissue disease10.7
8adult-onset still's disease10.7
9hepatitis c10.6
10thrombotic thrombocytopenic purpura10.6
11adult syndrome10.6
12hellp syndrome10.5
13hemoglobin d disease10.5
14antiphospholipid syndrome10.5
15central retinal vein occlusion10.5
16hepatitis a10.5
17bone marrow necrosis10.5
18hemoglobin c disease10.5
19adenocarcinoma10.5
20atypical hemolytic-uremic syndrome10.5
21sickle cell disease10.5
22nephritis10.5
23bone marrow cancer10.5
24sickle cell - hemoglobin d disease10.5
25sickle cell - hemoglobin c disease10.5
26stroke, ischemic10.4
27crohn's disease10.4
28status epilepticus10.4
29wiskott-aldrich syndrome10.4
30polyarteritis nodosa10.4
31autoimmune hemolytic anemia10.4
32coronary thrombosis10.4
33autoimmune hepatitis10.4
34pernicious anemia10.4
35acute myocardial infarction10.4
36vasculitis10.4
37char syndrome10.4
38lupus nephritis10.4
39hepatitis c virus10.4
40septic shock10.4
41sepsis10.4
42pregnancy loss10.4
43west syndrome10.3
44primary pulmonary hypertension10.3
45bone carcinoma10.3
46chorioangioma10.3
47nephrosclerosis10.3
48cutaneous anthrax10.3
49angiosarcoma10.3
50hemangioma thrombocytopenia syndrome10.3

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



Diseases related to thrombotic thrombocytopenic purpura, congenital

Clinical Features for Thrombotic Thrombocytopenic Purpura, Congenital

Sources:
47OMIM
See all sources

Clinical features from OMIM:

274150

Clinical synopsis from OMIM:

274150

Drugs & Therapeutics for Thrombotic Thrombocytopenic Purpura, Congenital

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Thrombotic Thrombocytopenic Purpura, Congenital

Drug clinical trials:

Search ClinicalTrials for Thrombotic Thrombocytopenic Purpura, Congenital

Search NIH Clinical Center for Thrombotic Thrombocytopenic Purpura, Congenital

Search CenterWatch for Thrombotic Thrombocytopenic Purpura, Congenital

Genetic Tests for Thrombotic Thrombocytopenic Purpura, Congenital

Sources:
22GTR
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Genetic tests related to Thrombotic Thrombocytopenic Purpura, Congenital:

id Genetic test Affiliating Genes
1 Upshaw-schulman Syndrome22

Anatomical Context for Thrombotic Thrombocytopenic Purpura, Congenital

Sources:
33MalaCards
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MalaCards organs/tissues related to Thrombotic Thrombocytopenic Purpura, Congenital:

33
Brain, Heart, Kidney, Skin

Animal Models for Thrombotic Thrombocytopenic Purpura, Congenital or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Thrombotic Thrombocytopenic Purpura, Congenital

Sources:
51PubMed
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Articles related to Thrombotic Thrombocytopenic Purpura, Congenital:

(show all 29)
idTitleAuthorsYear
1
Case of maternal and fetal deaths due to severe congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome) during pregnancy. (23937165)
2014
2
Congenital thrombotic thrombocytopenic purpura with novel mutations in three unrelated turkish children. (24115559)
2014
3
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
4
Multiple in silico tools predict phenotypic manifestations in congenital thrombotic thrombocytopenic purpura. (23346910)
2013
5
Drop of residual plasmatic activity of ADAMTS13 to undetectable levels during acute disease in a patient with adult-onset congenital thrombotic thrombocytopenic purpura. (22981442)
2013
6
Congenital Thrombotic Thrombocytopenic Purpura: Atypical Presentation and New ADAMTS 13 Mutation in a Tunisian Child. (23795279)
2013
7
Long term follow up of congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome) on hemodialysis for 19 years: a case report. (23870247)
2013
8
Congenital thrombotic thrombocytopenic purpura caused by new compound heterozygous mutations of the ADAMTS13 gene. (24033710)
2013
9
Residual plasmatic activity of ADAMTS13 is correlated with phenotype severity in congenital thrombotic thrombocytopenic purpura. (22529288)
2012
10
Congenital thrombotic thrombocytopenic purpura associated with moyamoya syndrome in a 3-year-old girl: a case report. (22378676)
2012
11
A phenotype-genotype correlation of ADAMTS13 mutations in congenital thrombotic thrombocytopenic purpura patients treated in the United Kingdom. (22783805)
2012
12
Congenital thrombotic thrombocytopenic purpura (cTTP) with two novel mutations. (22488907)
2012
13
Image in medicine. A case of congenital haemolytic anaemia and thrombocytopenia. Upshaw-Schulman syndrome (congenital thrombotic thrombocytopenic purpura). (20838713)
2010
14
Difficulties in diagnosing congenital thrombotic thrombocytopenic purpura. (20118810)
2010
15
ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura. (19847791)
2010
16
Successful pregnancy in a case of congenital thrombotic thrombocytopenic purpura. (20604662)
2010
17
Mutation of the H-bond acceptor S119 in the ADAMTS13 metalloprotease domain reduces secretion and substrate turnover in a patient with congenital thrombotic thrombocytopenic purpura. (19786614)
2009
18
Congenital thrombotic thrombocytopenic purpura: Lessons for recognition and management of rare syndromes. (18360884)
2008
19
Congenital thrombotic thrombocytopenic purpura associated with unilateral moyamoya disease. (18481107)
2008
20
Molecular characterization of four ADAMTS13 mutations responsible for congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome). (17849048)
2007
21
A clinical study of congenital thrombotic thrombocytopenic purpura]. (16831327)
2006
22
Fatal congenital thrombotic thrombocytopenic purpura with apparent ADAMTS13 inhibitor: in vitro inhibition of ADAMTS13 activity by hemoglobin. (15367436)
2005
23
Congenital thrombotic thrombocytopenic purpura in association with a mutation in the second CUB domain of ADAMTS13. (14512317)
2004
24
Dissociation between the level of von Willebrand factor-cleaving protease activity and disease in a patient with congenital thrombotic thrombocytopenic purpura. (15551280)
2004
25
Identification of novel mutations in ADAMTS13 in an adult patient with congenital thrombotic thrombocytopenic purpura. (15126318)
2004
26
Thrombocytopenia and severe hyperbilirubinemia in the neonatal period secondary to congenital thrombotic thrombocytopenic purpura and ADAMTS13 deficiency. (15284596)
2004
27
Ten candidate ADAMTS13 mutations in six French families with congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome). (15009458)
2004
28
ADAMTS13 gene mutation in congenital thrombotic thrombocytopenic purpura with previously reported normal VWF cleaving protease activity. (12576319)
2003
29
From gene to disease; congenital thrombotic thrombocytopenic purpura due to mutations in the ADAMTS13 gene]. (14694551)
2003

Genetic Variations for Thrombotic Thrombocytopenic Purpura, Congenital

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Thrombotic Thrombocytopenic Purpura, Congenital:

63 (show all 43)
id Symbol AA change Variation 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

Expression for genes affiliated with Thrombotic Thrombocytopenic Purpura, Congenital

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Thrombotic Thrombocytopenic Purpura, Congenital

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Pathways for genes affiliated with Thrombotic Thrombocytopenic Purpura, Congenital

Compounds for genes affiliated with Thrombotic Thrombocytopenic Purpura, Congenital

GO Terms for genes affiliated with Thrombotic Thrombocytopenic Purpura, Congenital

Products for genes affiliated with Thrombotic Thrombocytopenic Purpura, Congenital

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Sources for Thrombotic Thrombocytopenic Purpura, Congenital

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet