TTP
MCID: THR005
MIFTS: 61

Thrombotic Thrombocytopenic Purpura (TTP)

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

Aliases & Classifications for Thrombotic Thrombocytopenic Purpura

MalaCards integrated aliases for Thrombotic Thrombocytopenic Purpura:

Name: Thrombotic Thrombocytopenic Purpura 12 25 36 29 6 15 62
Purpura, Thrombotic Thrombocytopenic 74 25 43 71
Microangiopathic Hemolytic Anemia 25 71
Congenital Thrombotic Thrombocytopenic Purpura 71
Familial Thrombotic Thrombocytopenia Purpura 25
Familial Thrombotic Thrombocytopenic Purpura 71
Thrombotic Microangiopathy, Familial 25
Purpura Thrombotic Thrombocytopenic 54
Moschcowitz's Syndrome 12
Moschkowitz Disease 25
Ttp 25

Classifications:



Summaries for Thrombotic Thrombocytopenic Purpura

Genetics Home Reference : 25 Thrombotic thrombocytopenic purpura is a rare disorder that 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. Blood clots normally form to prevent excess blood loss at the site of an injury. In people with thrombotic thrombocytopenic purpura, clots develop in blood vessels even in the absence of injury. Blood clots are formed from clumps of cells called platelets, which circulate in the blood and assist with clotting. Because a large number of platelets are used to make clots in people with thrombotic thrombocytopenic purpura, fewer platelets are available in the bloodstream. A reduced level of circulating platelets is known as thrombocytopenia. Thrombocytopenia can lead to small areas of bleeding just under the surface of the skin, resulting in purplish spots called purpura. This disorder also causes red blood cells to break down (undergo hemolysis) prematurely. As blood squeezes past clots within blood vessels, red blood cells can break apart. A condition called hemolytic anemia occurs when red blood cells are destroyed faster than the body can replace them. This type of anemia leads to paleness, yellowing of the eyes and skin (jaundice), fatigue, shortness of breath, and a rapid heart rate. There are two major forms of thrombotic thrombocytopenic purpura, an acquired (noninherited) form and a familial form. The acquired form usually appears in late childhood or adulthood. Affected individuals may have a single episode of signs and symptoms, or they may recur over time. The familial form of this disorder is much rarer and typically appears in infancy or early childhood. In people with the familial form, signs and symptoms often recur on a regular basis.

MalaCards based summary : Thrombotic Thrombocytopenic Purpura, also known as purpura, thrombotic thrombocytopenic, is related to thrombotic thrombocytopenic purpura, congenital and raynaud phenomenon, and has symptoms including tremor and fever. An important gene associated with Thrombotic Thrombocytopenic Purpura is ADAMTS13 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 13), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Cell surface interactions at the vascular wall. The drugs Methylprednisolone hemisuccinate and Methylprednisolone have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and brain, and related phenotypes are dyspnea and generalized muscle weakness

KEGG : 36 Thrombotic thrombocytopenic purpura (TTP) is caused by mutation in the ADAMTS13 gene and characterized by microangiopathic hemolytic anemia and thrombocytopenia. The idiopathic forms were found to have acquired autoantibody inhibitors of the ADAMTS13 metalloprotease.

PubMed Health : 62 About thrombotic thrombocytopenic purpura: Thrombotic thrombocytopenic purpura (TTP) is a rare blood disorder. In TTP, blood clots form in small blood vessels throughout the body. The clots can limit or block the flow of oxygen-rich blood to the body's organs, such as the brain, kidneys, and heart. As a result, serious health problems can develop. The increased clotting that occurs in TTP also uses up platelets (PLATE-lets) in the blood. Platelets are blood cell fragments that help form blood clots. These cell fragments stick together to seal small cuts and breaks on blood vessel walls and stop bleeding. With fewer platelets available in the blood, bleeding problems can occur. People who have TTP may bleed inside their bodies, underneath the skin, or from the surface of the skin. When cut or injured, they also may bleed longer than normal. "Thrombotic" (throm-BOT-ik) refers to the blood clots that form. "Thrombocytopenic" (throm-bo-cy-toe-PEE-nick) means the blood has a lower than normal number of platelets. "Purpura" (PURR-purr-ah) refers to purple bruises caused by bleeding under the skin. Bleeding under the skin also can cause tiny red or purple dots on the skin. These pinpoint-sized dots are called petechiae (peh-TEE-kee-ay). Petechiae may look like a rash.

Wikipedia : 74 Thrombotic thrombocytopenic purpura (TTP) is a blood disorder that results in blood clots forming in... more...

Related Diseases for Thrombotic Thrombocytopenic Purpura

Diseases in the Thrombotic Thrombocytopenic Purpura family:

Thrombotic Thrombocytopenic Purpura, Congenital Thrombotic Thrombocytopenic Purpura, Acquired

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

(show top 50) (show all 697)
# Related Disease Score Top Affiliating Genes
1 thrombotic thrombocytopenic purpura, congenital 34.4 HP CFH ADAMTS13
2 raynaud phenomenon 31.1 VWF THBD APOH
3 heparin-induced thrombocytopenia 31.1 SERPINC1 F3 CD40LG
4 thrombotic microangiopathy 31.1 VWF CFI CFH CD46 ADAMTS13
5 endocarditis 31.1 SERPINC1 PLAT APOH
6 mixed connective tissue disease 31.0 CD40LG APOH ADAMTS13
7 polyarteritis nodosa 30.9 SELP SELE APOH
8 thrombocytopenic purpura, autoimmune 30.9 SELP ITGB3 CD40LG ADAMTS13
9 giant hemangioma 30.7 SERPINC1 F3
10 evans' syndrome 30.7 HP CD40LG ADAMTS13
11 placenta disease 30.7 SERPINC1 F3 APOH
12 purpura 30.7 VWF THBD SERPINC1 SELP ITGB3 F3
13 moyamoya disease 1 30.7 VWF SERPINC1 F3
14 toxic shock syndrome 30.6 SERPINC1 F3 CD40LG
15 placental abruption 30.6 THBD SERPINC1 APOH
16 thrombocytopenia due to platelet alloimmunization 30.6 SELP ITGB3 CD40LG
17 spotted fever 30.6 VWF THBD CD40LG
18 acquired von willebrand syndrome 30.6 VWF F3 ADAMTS13
19 bilirubin metabolic disorder 30.6 HP F3 CD40LG ADAMTS13
20 malignant hypertension 30.6 VWF THBD CFH ADAMTS13
21 acute kidney failure 30.5 HP CFH CABIN1 ADAMTS13
22 retinal vein occlusion 30.5 SERPINC1 F3 CD40LG APOH
23 hypertensive encephalopathy 30.5 CABIN1 ADAMTS13
24 branch retinal artery occlusion 30.5 SERPINC1 F3
25 anemia, autoimmune hemolytic 30.5 HP CD40LG C3
26 retinal vascular occlusion 30.4 SERPINC1 SELP APOH
27 shwartzman phenomenon 30.4 SELE F3
28 hemophilia b 30.4 VWF SERPINC1 F3
29 diabetic angiopathy 30.3 VWF THBD SELE
30 cryofibrinogenemia 30.3 HP CD40LG
31 intermediate coronary syndrome 30.3 VWF SERPINC1 SELP PLAT F3
32 budd-chiari syndrome 30.3 SERPINC1 F3 APOH
33 homocysteinemia 30.3 VWF THBD SERPINC1 APOH
34 pulmonary hypertension 30.3 VWF THBD SERPINC1 SELP PLAT F3
35 thrombocytosis 30.3 VWF SERPINC1 SELP F3
36 central retinal vein occlusion 30.2 VWF SERPINC1 PLAT F3 APOH
37 polycythemia vera 30.2 VWF THBD SELP ITGB3
38 protein s deficiency 30.2 THBD SERPINC1 F3 APOH
39 papilledema 30.2 SERPINC1 F3 CD40LG APOH
40 complement factor h deficiency 30.2 CFI CFH CD46
41 hantavirus hemorrhagic fever with renal syndrome 30.2 F3 CD40LG CABIN1
42 anuria 30.1 HP F3 CD40LG ADAMTS13
43 bernard-soulier syndrome 30.1 VWF SELP ITGB3
44 vasculitis 30.1 VWF THBD SELP SELE CD40LG C3
45 maxillary sinusitis 30.1 SELP CD40LG
46 severe pre-eclampsia 30.1 SERPINC1 CFH C3 APOH
47 central retinal artery occlusion 30.1 SERPINC1 PLAT CD40LG
48 rheumatic disease 30.0 VWF THBD CD40LG APOH
49 marantic endocarditis 30.0 VWF SERPINC1 PLAT F3
50 coronary heart disease 1 30.0 VWF SELP SELE PLAT

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



Diseases related to Thrombotic Thrombocytopenic Purpura

Symptoms & Phenotypes for Thrombotic Thrombocytopenic Purpura

Human phenotypes related to Thrombotic Thrombocytopenic Purpura:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 dyspnea 31 hallmark (90%) HP:0002094
2 generalized muscle weakness 31 hallmark (90%) HP:0003324
3 thrombocytopenia 31 hallmark (90%) HP:0001873
4 reticulocytosis 31 hallmark (90%) HP:0001923
5 microangiopathic hemolytic anemia 31 hallmark (90%) HP:0001937
6 seizures 31 frequent (33%) HP:0001250
7 abdominal pain 31 frequent (33%) HP:0002027
8 confusion 31 frequent (33%) HP:0001289
9 headache 31 frequent (33%) HP:0002315
10 coma 31 frequent (33%) HP:0001259
11 diarrhea 31 frequent (33%) HP:0002014
12 stroke 31 frequent (33%) HP:0001297
13 abnormal lactate dehydrogenase activity 31 frequent (33%) HP:0045040
14 proteinuria 31 occasional (7.5%) HP:0000093
15 fever 31 occasional (7.5%) HP:0001945
16 arrhythmia 31 occasional (7.5%) HP:0011675
17 myocardial infarction 31 occasional (7.5%) HP:0001658
18 hematuria 31 occasional (7.5%) HP:0000790
19 acute kidney injury 31 very rare (1%) HP:0001919
20 decreased serum creatinine 31 very rare (1%) HP:0012101

UMLS symptoms related to Thrombotic Thrombocytopenic Purpura:


tremor, fever

GenomeRNAi Phenotypes related to Thrombotic Thrombocytopenic Purpura according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased replication of vaccinia virus (VACV) GR00362-A 9.1 CFH ITGB3 SELP SERPINC1 SERPINF2 THBD

MGI Mouse Phenotypes related to Thrombotic Thrombocytopenic Purpura:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.36 ADAMTS13 C3 CABIN1 CD40LG CFH CFI
2 homeostasis/metabolism MP:0005376 10.36 ADAMTS13 APOH C3 CD40LG CFH CFI
3 cardiovascular system MP:0005385 10.34 C3 CD40LG CD46 CFH F3 HP
4 immune system MP:0005387 10.28 ADAMTS13 C3 CABIN1 CD40LG CFH F3
5 cellular MP:0005384 10.22 C3 CD40LG F3 HP ITGB3