Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension (ICPPS)

Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension(来自ICD-11)

别称:

Small Patella Syndrome

Ischiopatellar Dysplasia

Coxopodopatellar Syndrome

Scott-Taor Syndrome

Sps

Patella Aplasia, Coxa Vara, and Tarsal Synostosis

Ischiocoxopodopatellar Syndrome

Patella Aplasia, Coxa Vara, Tarsal Synostosis

Icpps

Congenital Coxa Vara, Patella Aplasia and Tarsal Synostosis

Coxo-Podo-Patellar Syndrome

Coxopodipatellar Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension, also known as small patella syndrome, is related to chromosome 17q23.1-q23.2 deletion syndrome and heritable pulmonary arterial hypertension. An important gene associated with Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension is TBX4 (T-Box Transcription Factor 4), and among its related pathways/superpathways are Signaling by BMP and Heart development. Affiliated tissues include bone and lung, and related phenotypes are aplasia/hypoplasia of the patella and abnormality of the knee

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