Takenouchi-Kosaki Syndrome (TKS)

Alias:
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Tks
Macrothrombocytopenia and Mental Retardation Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Takenouchi-Kosaki Syndrome, also known as macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome, is related to sensorineural hearing loss and anemia, autoimmune hemolytic. An important gene associated with Takenouchi-Kosaki Syndrome is CDC42 (Cell Division Cycle 42). Affiliated tissues include skin and brain, and related phenotypes are abnormal facial shape and brain imaging abnormality
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
<1/1000000
1
11
7

Medical Symptom

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

Gene & Mutation

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No data available

Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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No Data Found!
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