Weill-Marchesani Syndrome 1 (WMS1)

Weill-Marchesani Syndrome 1(来自ICD-11)

别称:

Spherophakia-Brachymorphia Syndrome

Weill-Marchesani Syndrome, Autosomal Recessive

Wms1

Weill-Marchesani Syndrome, Autosomal Dominant

Autosomal Recessive Weill-Marchesani Syndrome

Weill-Marchesani Syndrome, Type 1, Recessive

Mesodermal Dysmorphodystrophy, Congenital

Congenital Mesodermal Dysmorphodystrophy

Weill-Marchesani Syndrome 1, Recessive

Weill-Marchesani Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Weill-Marchesani Syndrome 1, also known as spherophakia-brachymorphia syndrome, is related to weill-marchesani syndrome and brachydactyly, and has symptoms including joint stiffness An important gene associated with Weill-Marchesani Syndrome 1 is ADAMTS10 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 10), and among its related pathways/superpathways are Extracellular matrix organization and Signaling by TGFB family members. Affiliated tissues include eye and heart, and related phenotypes are joint stiffness and short stature

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