Bleeding Disorder, Platelet-Type, 9 (BDPLT9)

Alias:
Platelet-Type Bleeding Disorder 9
Glycoprotein Ia Deficiency
Collagen Platelet Receptor Deficiency
Gp Ia Deficiency
Bdplt9
Bleeding Diathesis Due to Integrin Alpha2-Beta1 Deficiency
Bleeding Disorder, Platelet Type 9
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Bleeding Disorder, Platelet-Type, 9, also known as platelet-type bleeding disorder 9, is related to hyperphosphatasia-intellectual disability syndrome and muscular dystrophy, congenital, with cataracts and intellectual disability. An important gene associated with Bleeding Disorder, Platelet-Type, 9 is BDPLT9 (Bleeding Disorder, Platelet-Type, 9), and among its related pathways/superpathways are Metabolism of proteins and Post-translational modification: synthesis of GPI-anchored proteins. Affiliated tissues include bone marrow and bone, and related phenotypes are thrombocytopenia and bruising susceptibility

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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7
30
3

Medical Symptom

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

Gene & Mutation

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Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

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

References Literature

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PMID
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IF
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