TTP
MCID: THR045
MIFTS: 39

Thrombotic Thrombocytopenic Purpura, Congenital (TTP) malady

Genetic diseases, Rare diseases, Nephrological diseases, Blood diseases, Immune diseases categories
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Summaries for Thrombotic Thrombocytopenic Purpura, Congenital

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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 based summary: Thrombotic Thrombocytopenic Purpura, Congenital, also known as upshaw-schulman syndrome, is related to hemolytic anemia and pancreatitis, and has symptoms including 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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Sources:
42NIH Rare Diseases, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Thrombotic Thrombocytopenic Purpura, Congenital, Aliases & Descriptions:

Name: Thrombotic Thrombocytopenic Purpura, Congenital 42
Upshaw-Schulman Syndrome 42 22 48 62
Thrombotic Thrombocytopenic Purpura, Familial 42 46
Uss 42 62
Congenital Thrombotic Thrombocytopenic Purpura Due to Adamts-13 Deficiency 48
Congenital Thrombotic Thrombocytopenic Purpura 62
Microangiopathic Hemolytic Anemia, Congenital 42
Thrombotic Microangiopathy, Familial 42
Purpura, Thrombotic Thrombocytopenic 62
 
Thrombotic Thrombocytopenic Purpura 48
Microangiopathic Hemolytic Anemia 42
Anemia Hemolytic Microangiopathic 44
Upshaw Factor, Deficiency of 42
Schulman-Upshaw Syndrome 42
Moschcowitz Disease 48
Ttp, Congenital 42
Ttp 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
thrombotic thrombocytopenic purpura:
Prevalence: 1-5/10000; Age of onset: Variable
upshaw-schulman syndrome:
Age of onset: Neonatal/infancy


External Ids:

OMIM46 274150
MESH via Orphanet35 D011697
ICD10 via Orphanet26 M31.1, M31.3
UMLS via Orphanet63 C0034155

Related Diseases for Thrombotic Thrombocytopenic Purpura, Congenital

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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 172)
idRelated DiseaseScoreTop Affiliating Genes
1hemolytic anemia11.1
2pancreatitis10.8
3retinitis10.8
4connective tissue disease10.7
5thrombocytopenia10.7
6endotheliitis10.7
7acute pancreatitis10.7
8adult-onset still's disease10.7
9mixed connective tissue disease10.7
10retinal detachment10.7
11thrombotic thrombocytopenic purpura10.6
12multiple myeloma10.6
13myocardial infarction10.6
14hepatitis c10.6
15myeloma10.6
16bone marrow necrosis10.6
17retinal vein occlusion10.6
18central retinal vein occlusion10.6
19hemangioma10.5
20eclampsia10.5
21adenocarcinoma10.5
22pre-eclampsia10.5
23severe pre-eclampsia10.5
24leukemia10.5
25hemoglobin c disease10.5
26cerebritis10.5
27influenza10.5
28prostatitis10.5
29scleroderma10.5
30nephritis10.5
31sickle cell - hemoglobin c disease10.5
32hepatitis10.4
33hypertension10.4
34hellp syndrome10.4
35acute myocardial infarction10.4
36crohn's disease10.4
37prostate cancer10.4
38wiskott-aldrich syndrome10.4
39status epilepticus10.4
40autoimmune hemolytic anemia10.4
41pernicious anemia10.4
42polyarteritis nodosa10.4
43autoimmune thrombocytopenic purpura10.4
44brucellosis10.4
45ischemia10.4
46vasculitis10.4
47lupus nephritis10.4
48hepatitis c virus10.4
49septic shock10.4
50sepsis10.4

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



Diseases related to thrombotic thrombocytopenic purpura, congenital

Symptoms for Thrombotic Thrombocytopenic Purpura, Congenital

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Symptoms by clinical synopsis from OMIM:

274150

Clinical features from OMIM:

274150

HPO human phenotypes related to Thrombotic Thrombocytopenic Purpura, Congenital:

(show all 17)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 proteinuria HP:0000093
3 confusion HP:0001289
4 tremor HP:0001337
5 heterogeneous HP:0001425
6 thrombocytopenia HP:0001873
7 reticulocytosis HP:0001923
8 microangiopathic hemolytic anemia HP:0001937
9 fever HP:0001945
10 schistocytosis HP:0001981
11 respiratory distress HP:0002098
12 increased serum lactate HP:0002151
13 microscopic hematuria HP:0002907
14 increased blood urea nitrogen (bun) HP:0003138
15 elevated serum creatinine HP:0003259
16 hemolytic-uremic syndrome HP:0005575
17 prolonged neonatal jaundice HP:0006579

Drugs & Therapeutics for Thrombotic Thrombocytopenic Purpura, Congenital

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Drug clinical trials:

Search ClinicalTrials for Thrombotic Thrombocytopenic Purpura, Congenital

Search NIH Clinical Center for Thrombotic Thrombocytopenic Purpura, Congenital

Genetic Tests for Thrombotic Thrombocytopenic Purpura, Congenital

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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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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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Variations for Thrombotic Thrombocytopenic Purpura, Congenital

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

64 (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, Congenital:

6 (show all 24)
id Gene Name 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
8ADAMTS13ADAMTS13: c.3770dupT (p.Leu1257delinsLeuValfs)duplicationPathogenicrs387906341GRCh37Chr 9, 136321719: 136321720
9ADAMTS13ADAMTS13: c.2376_2401del26 (p.Pro792_Pro801delinsProProfs)deletionPathogenicrs387906342GRCh37Chr 9, 136308638: 136308663
10ADAMTS13ADAMTS13: c.4143_4144insA (p.Ser1381_Glu1382delinsSerArgGlufs)duplicationPathogenicrs387906343GRCh37Chr 9, 136324161: 136324162
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
16ADAMTS13NR_024514.1(ADAMTS13): n.993-2505C> Gsingle nucleotide variantPathogenicrs2301612GRCh37Chr 9, 136301982: 136301982
17ADAMTS13NM_139025.4(ADAMTS13): c.1423C> T (p.Pro475Ser)single nucleotide variantPathogenicrs11575933GRCh37Chr 9, 136302063: 136302063
18ADAMTS13ADAMTS13: c.1783_1784delTT (p.Leu595Glyfs)deletionPathogenicrs387906344GRCh37Chr 9, 136304564: 136304565
19ADAMTS13ADAMTS13, IVS4DS, G-A, +1single nucleotide variantPathogenic
20ADAMTS13NM_139025.4(ADAMTS13): c.749C> T (p.Ala250Val)single nucleotide variantPathogenicrs121908478GRCh37Chr 9, 136293816: 136293816
21ADAMTS13ADAMTS13, IVS3DS, G-Asingle nucleotide variantPathogenic
22ADAMTS13ADAMTS13: c.291_319del29 (p.Gln97_Asn107delinsGlnProfs)deletionPathogenicrs387906345GRCh37Chr 9, 136289559: 136289587
23ADAMTS13ADAMTS13: c.2930_2935delGTGCCC (p.Cys977_Arg979delinsTrp)deletionPathogenicrs387906346GRCh37Chr 9, 136314972: 136314977
24ADAMTS13ADAMTS13: c.1523G> A (p.Cys508Tyr)single nucleotide variantPathogenicrs281875305GRCh37Chr 9, 136302956: 136302956

Expression for genes affiliated with Thrombotic Thrombocytopenic Purpura, Congenital

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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet