Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

congenital thrombotic thrombocytopenic purpura - Clinical Profile, Genes & Research | Kisho | Kisho

Features include common findings: Jaundice; and sometimes findings: Stroke, Respiratory distress, and Transient ischemic attack. 20 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	4	Hemolytic-uremic syndrome, Microangiopathic hemolytic anemia, Increased immature red blood cells (reticulocytosis)
Kidneys and urinary system	4	Protein in the urine (proteinuria), Abnormal renal physiology, Microscopic hematuria
Brain and nerves	3	Stroke, Transient ischemic attack, Tremor
Heart and blood vessels	3	Stroke, Myocardial infarction, Transient ischemic attack
Lab test results	2	Increased circulating lactate concentration, Elevated creatinine (kidney function marker) (elevated circulating creatinine concentration)
Digestive system	2	Jaundice, Prolonged neonatal jaundice
Lungs and breathing	1	Respiratory distress
Metabolism	1	Fever
Pregnancy and birth	1	Prolonged neonatal jaundice

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

ADAMTS13 encodes ADAM metallopeptidase with thrombospondin type 1 motif 13 (1,427 aa). Cleaves the vWF multimers in plasma into smaller forms thereby controlling vWF-mediated platelet thrombus formation

Congenital thrombotic thrombocytopenic purpura is caused by mutations in the ADAMTS13 gene on chromosome 9.

The ADAMTS13 protein participates in ADAMTS13 variant pathway.

ADAMTS13 is classified as a druggable target (Cell Surface, Druggable Genome, Enzyme, Neutral Zinc Metallopeptidase, and Protease categories) with score 0.0.

99 pathogenic variants reported in ADAMTS13 in ClinVar, including hotspot variants 2708157 and 2073261.

Variant	Significance	Review Stars	Hotspot
2708157	Conflicting classifications of pathogenicity	—	Yes
2073261	Conflicting classifications of pathogenicity	—	Yes
1336042	Conflicting classifications of pathogenicity	—	Yes
1306208	Conflicting classifications of pathogenicity	—	Yes
1303178	Conflicting classifications of pathogenicity	—	Yes

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

42 publications have been identified in PubMed for congenital thrombotic thrombocytopenic purpura. Research spans Case Report / Case Series (26%), Review / Meta-Analysis (21%), and Basic Science / Preclinical (17%).

Research Type	Count	% of Total
Patient case studies	11	26%
Research summaries	9	21%
Laboratory research	7	17%
Clinical study results	5	12%
Disease patterns and progression	5	12%
Other research	3	7%
New treatment approaches	2	5%

Recent Publications

Robichaux TP (2026). [PMID: 41695966](https://pubmed.ncbi.nlm.nih.gov/41695966/). *Journal of the advanced practitioner in oncology*. [Gene Therapy / Novel Therapeutics]
Poznyakova J (2026). [PMID: 42196618](https://pubmed.ncbi.nlm.nih.gov/42196618/). *Int J Mol Sci*. [Basic Science / Preclinical]
Barker E (2026). [PMID: 42107974](https://pubmed.ncbi.nlm.nih.gov/42107974/). *Br J Haematol*. [Epidemiology / Natural History]
Wang A (2026). [PMID: 42158987](https://pubmed.ncbi.nlm.nih.gov/42158987/). *Blood Coagul Fibrinolysis*. [Case Report / Case Series]
Windyga J (2026). [PMID: 41035409](https://pubmed.ncbi.nlm.nih.gov/41035409/). *Haematologica*. [Review / Meta-Analysis]
Carter MA (2026). [PMID: 41692098](https://pubmed.ncbi.nlm.nih.gov/41692098/). *Journal of thrombosis and haemostasis : JTH*. [Other]
Kaur H (2026). [PMID: 42198833](https://pubmed.ncbi.nlm.nih.gov/42198833/). *Expert Rev Hematol*. [Review / Meta-Analysis]
Kumar V (2026). [PMID: 41751340](https://pubmed.ncbi.nlm.nih.gov/41751340/). *Biomedicines*. [Clinical Trial Publication]
Joly BS (2026). [PMID: 40875883](https://pubmed.ncbi.nlm.nih.gov/40875883/). *Blood advances*. [Review / Meta-Analysis]
Laemmle A (2026). [PMID: 41680850](https://pubmed.ncbi.nlm.nih.gov/41680850/). *Thrombosis journal*. [Basic Science / Preclinical]

Kisho

congenital thrombotic thrombocytopenic purpura

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Latest News & Developments

Pancreatitis and Myocardial Infarction as Complications of Thrombotic Thrombocytopenic Purpura: A Case Report.

Natural History and Treatment Outcomes of Congenital Thrombotic Thrombocytopenic Purpura: A Retrospective Longitudinal Cohort Study.

The impact of hereditary TTP on psychological health, cognition, and well-being: a patient-reported outcomes study.

congenital thrombotic thrombocytopenic purpura

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Latest News & Developments

Pancreatitis and Myocardial Infarction as Complications of Thrombotic Thrombocytopenic Purpura: A Case Report.

Natural History and Treatment Outcomes of Congenital Thrombotic Thrombocytopenic Purpura: A Retrospective Longitudinal Cohort Study.

The impact of hereditary TTP on psychological health, cognition, and well-being: a patient-reported outcomes study.