TTP
MCID: THR045
MIFTS: 43

Thrombotic Thrombocytopenic Purpura, Congenital (TTP) malady

Nephrological diseases, Blood diseases, Genetic diseases categories

Summaries for Thrombotic Thrombocytopenic Purpura, Congenital

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42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 hemolytic-uremic syndrome and thrombotic thrombocytopenic purpura, acquired. An important gene associated with Thrombotic Thrombocytopenic Purpura, Congenital is ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif, 13). Affiliated tissues include eye, brain and heart.

Description from OMIM:46 274150

Aliases & Classifications for Thrombotic Thrombocytopenic Purpura, Congenital

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48Orphanet, 60UMLS, 42NIH Rare Diseases, 22GTR, 46OMIM, 44Novoseek, 57SNOMED-CT via Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
thrombotic thrombocytopenic purpura:
Prevalence: 1-5/10000; Age of onset: Variable


Aliases & Descriptions:

thrombotic thrombocytopenic purpura, congenital 42
thrombotic thrombocytopenic purpura, familial 42 46
schulman-upshaw syndrome 42 22
congenital thrombotic thrombocytopenic purpura due to adamts-13 deficiency 48
congenital thrombotic thrombocytopenic purpura 60
microangiopathic hemolytic anemia, congenital 42
thrombotic microangiopathy, familial 42
purpura, thrombotic thrombocytopenic 60
thrombotic thrombocytopenic purpura 48
anemia hemolytic microangiopathic 44
microangiopathic hemolytic anemia 42
upshaw-schulman syndrome 48
moschcowitz disease 48
ttp 48


External Ids:

SNOMED-CT via Orphanet57 373420004, 78129009
MESH via Orphanet35 D011697
ICD10 via Orphanet26 D69.4, M31.3
UMLS via Orphanet61 C0034155
OMIM46 274150

Related Diseases for Thrombotic Thrombocytopenic Purpura, Congenital

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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 141)
idRelated DiseaseScoreTop Affiliating Genes
1hemolytic-uremic syndrome11.1
2thrombotic thrombocytopenic purpura, acquired10.9
3systemic lupus erythematosus10.9
4lupus erythematosus10.9
5autoimmune thrombocytopenic purpura10.8
6pancreatitis10.8
7retinitis10.8
8thrombocytopenia10.7
9connective tissue disease10.7
10acute pancreatitis10.7
11mixed connective tissue disease10.6
12adult-onset still's disease10.6
13hepatitis10.6
14hepatitis c10.6
15hepatitis a10.6
16disseminated intravascular coagulation10.6
17hemolytic anemia10.6
18retinal detachment10.6
19thrombotic thrombocytopenic purpura10.6
20adult syndrome10.6
21multiple myeloma10.6
22myeloma10.6
23myocardial infarction10.6
24hellp syndrome10.5
25antiphospholipid syndrome10.5
26central retinal vein occlusion10.5
27hypertension10.5
28retinal vein occlusion10.5
29hemoglobin c disease10.5
30adenocarcinoma10.5
31glomerulonephritis10.5
32influenza10.5
33malignant hypertension10.5
34prostatitis10.5
35scleroderma10.5
36atypical hemolytic-uremic syndrome10.5
37sickle cell disease10.5
38stroke, ischemic10.4
39crohn's disease10.4
40membranous glomerulonephritis10.4
41status epilepticus10.4
42wiskott-aldrich syndrome10.4
43polyarteritis nodosa10.4
44autoimmune hemolytic anemia10.4
45coronary thrombosis10.4
46autoimmune hepatitis10.4
47pernicious anemia10.4
48acute myocardial infarction10.4
49brucellosis10.4
50ischemia10.4

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

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46OMIM
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Clinical features from OMIM:

274150

Clinical synopsis from OMIM:

274150

Drugs & Therapeutics for Thrombotic Thrombocytopenic Purpura, Congenital

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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

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Genetic Tests for Thrombotic Thrombocytopenic Purpura, Congenital

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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

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32MalaCards
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MalaCards organs/tissues related to Thrombotic Thrombocytopenic Purpura, Congenital:

32
Eye, Brain, Heart, Kidney, Skin

Animal Models for Thrombotic Thrombocytopenic Purpura, Congenital or affiliated genes

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Publications for Thrombotic Thrombocytopenic Purpura, Congenital

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Genetic Variations for Thrombotic Thrombocytopenic Purpura, Congenital

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Thrombotic Thrombocytopenic Purpura, Congenital:

62 (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

Expression for genes affiliated with Thrombotic Thrombocytopenic Purpura, Congenital

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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

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Compounds for genes affiliated with Thrombotic Thrombocytopenic Purpura, Congenital

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GO Terms for genes affiliated with Thrombotic Thrombocytopenic Purpura, Congenital

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Products for genes affiliated with Thrombotic Thrombocytopenic Purpura, Congenital

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Thrombotic Thrombocytopenic Purpura, Congenital

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet