Details of Disease

General Information of Disease (ID: DISC8GS9)

Disease Name	Congenital thrombotic thrombocytopenic purpura
Synonyms	thrombotic microangiopathy, familial; TTP; thrombotic thrombocytopenic purpura, congenital; TTP, congenital; thrombotic thrombocytopenic purpura, familial; Microangiopathic hemolytic Anemia, congenital; Microangiopathic hemolytic Anemia; Upshaw Factor, deficiency of; Microangiopathic hemolytic Anaemia; Schulman-Upshaw syndrome; USS; hereditary thrombotic thrombocytopenic purpura; congenital TTP; Upshaw-Schulman syndrome; congenital ADAMTS-13 deficiency; congenital ADAMTS13 deficiency; familial TTP; thrombotic thrombocytopenic purpura, hereditary; congenital thrombotic thrombocytopenic purpura
Disease Class	3B64: Thrombocytopenia
Definition	Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.
Disease Hierarchy	DISAWDAB: Congenital hematological disorder DIS1DL2M: Inherited blood coagulation disorder DISANU9Q: Inherited thrombocytopenia DIS3LDOU: Thrombotic thrombocytopenic purpura DISIUNXT: Inherited bleeding disorder, platelet-type DISC8GS9: Congenital thrombotic thrombocytopenic purpura
ICD Code	ICD-11 ICD-11: 3B64.14
Disease Identifiers	MONDO ID MONDO_0010122 MESH ID D011697 UMLS CUI C1268935 OMIM ID 274150 MedGen ID 224783 Orphanet ID 93583 SNOMED CT ID 373420004

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
TAK-755	DMVYXFK	Phase 3	Enzyme replacement	[1]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 6 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CACNA1S	TT94HRF	Disputed	Genetic Variation	[2]
F3	TT38MDJ	Strong	Biomarker	[3]
TFPI	TT068JH	Strong	Biomarker	[3]
THBD	TTAPV67	Strong	Biomarker	[3]
ADAMTS13	TTUREBK	Definitive	Autosomal recessive	[4]
MAPKAPK2	TTMUG9D	Definitive	Biomarker	[5]
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⏷ Show the Full List of 6 DTT(s)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC25A10	DTJYKDQ	moderate	Biomarker	[6]
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This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PHEX	OTG7N3J7	Disputed	Biomarker	[7]
SH3BP4	OTVIRKW7	Disputed	Genetic Variation	[8]
TNS3	OTPG2D8Z	moderate	Biomarker	[9]
ADAMTS13	OTXKH5P9	Definitive	Autosomal recessive	[4]
BRF1	OTQC6DMG	Definitive	Biomarker	[10]
KCNH8	OT3I5FLB	Definitive	Altered Expression	[11]
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⏷ Show the Full List of 6 DOT(s)

References

1	ClinicalTrials.gov (NCT05770219) Expanded Access Program: TAK-755 (rADAMTS13) for the Prophylaxis and Treatment of Severe Congenital or Hereditary Thrombotic Thrombocytopenic Purpura. U.S.National Institutes of Health.
2	The alpha(1S) subunit of the L-type calcium channel is not a predisposition gene for thyrotoxic periodic paralysis.Clin Endocrinol (Oxf). 2007 Feb;66(2):229-34. doi: 10.1111/j.1365-2265.2006.02713.x.
3	Decreased plasma tissue factor pathway inhibitor levels in patients with thrombotic thrombocytopenic purpura.Thromb Haemost. 1995 Jan;73(1):10-4.
4	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
5	The Role of TTP Phosphorylation in the Regulation of Inflammatory Cytokine Production by MK2/3.J Immunol. 2019 Oct 15;203(8):2291-2300. doi: 10.4049/jimmunol.1801221. Epub 2019 Sep 16.
6	Kasabach-Merritt syndrome arising from a vascular fistula.Am J Emerg Med. 2019 Jul;37(7):1394.e3-1394.e4. doi: 10.1016/j.ajem.2019.04.013. Epub 2019 Apr 10.
7	Management of thrombotic thrombocytopenic purpura without plasma exchange: the Jehovah's Witness experience.Blood Adv. 2017 Oct 30;1(24):2161-2165. doi: 10.1182/bloodadvances.2017012351. eCollection 2017 Nov 14.
8	Genetic polymorphisms in RNA binding proteins contribute to breast cancer survival.Int J Cancer. 2013 Feb 1;132(3):E128-38. doi: 10.1002/ijc.27789. Epub 2012 Sep 18.
9	Thrombotic thrombocytopenic purpura associated with von Willebrand factor-cleaving protease (ADAMTS13) deficiency in children.Semin Thromb Hemost. 2006 Mar;32(2):90-7. doi: 10.1055/s-2006-939764.
10	IL-33 regulates cytokine production and neutrophil recruitment via the p38 MAPK-activated kinases MK2/3.Immunol Cell Biol. 2019 Jan;97(1):54-71. doi: 10.1111/imcb.12200. Epub 2018 Oct 19.
11	ApoA-1 Mimetic Peptide ELK-2A2K2E Decreases Inflammatory Factor Levels Through the ABCA1-JAK2-STAT3-TTP Axis in THP-1-Derived Macrophages.J Cardiovasc Pharmacol. 2018 Jul;72(1):60-67. doi: 10.1097/FJC.0000000000000594.