Mckusick-Kaufman Syndrome (MKKS)

Mckusick-Kaufman Syndrome(来自ICD-11)

别称:

Kaufman-Mckusick Syndrome

Hydrometrocolpos, Postaxial Polydactyly, and Congenital Heart Malformation

Hydrometrocolpos-Postaxial Polydactyly Syndrome

Mkks

Hmcs

Hydrometrocolpos Syndrome

Kaufman Mckusick Syndrome

Mckusick Kaufman Syndrome

Mks

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Mckusick-Kaufman Syndrome, also known as kaufman-mckusick syndrome, is related to polydactyly, postaxial, type a1 and heart disease. An important gene associated with Mckusick-Kaufman Syndrome is MKKS (MKKS Centrosomal Shuttling Protein), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Bardet-Biedl syndrome. Affiliated tissues include heart and uterus, and related phenotypes are hydrometrocolpos and cryptorchidism

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