Scott Syndrome (SCTS)

Alias:
Prothrombin Consumption Deficiency
Bdplt7
Scts
Bleeding Abnormality Due to Deficiency of Platelet Binding of Factor X
Bleeding Abnormality Due to Deficiency of Platelet Biding of Factor X
Prothrombin Consumption Inhibitor, Familial
Familial Prothrombin Consumption Inhibitor
Prothrombin Consumption Inhibitor Familial
Prothrombin Conversion Defect, Familial
Familial Prothrombin Conversion Defect
Prothrombin Conversion Defect Familial
Bleeding Disorder, Platelet-Type, 7
Platelet-Type Bleeding Disorder 7
Bleeding Disorder Platelet-Type 7
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Scott Syndrome, also known as prothrombin consumption deficiency, is related to factor viii deficiency and hemorrhagic disease. An important gene associated with Scott Syndrome is ANO6 (Anoctamin 6), and among its related pathways/superpathways are Infectious disease and Transport of inorganic cations/anions and amino acids/oligopeptides. The drug Thrombin has been mentioned in the context of this disorder. Affiliated tissues include bone marrow and spinal cord, and related phenotypes are abnormal bleeding and factor x activation deficiency
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
All ages
<1/1000000
20
139
20

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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