Ehlers-Danlos Syndrome, Musculocontractural Type, 1 (EDSMC1)

Alias:

Ehlers-Danlos Syndrome, Musculocontractural Type 1

Adducted Thumb-Clubfoot Syndrome

Ehlers-Danlos Syndrome, Musculocontractural Type

Dundar Syndrome

Distal Arthrogryposis with Peculiar Facies and Hydronephrosis

Ehlers-Danlos Syndrome Musculocontractural Type 1

Musculocontractural Ehlers-Danlos Syndrome

Ehlers-Danlos Syndrome, Kosho Type

Musculocontractural Eds

Edsmc1

Edsmc

Mceds

Atcs

Adducted Thumb, Clubfoot, and Progressive Joint and Skin Laxity Syndrome

Arthrogryposis, Distal, with Peculiar Facies and Hydronephrosis

Arthrogryposis Distal with Peculiar Facies and Hydronephrosis

Ehlers-Danlos, Musculocontractural Syndrome, Type 1

Ehlers-Danlos, Musculocontractural Syndrome

Ehlers-Danlos Syndrome, Type Vib, Formerly

Adducted Thumbs-Arthrogryposis Dundar Type

Ehlers-Danlos Syndrome Type Vib Formerly

Adducted Thumb Club Foot Syndrome

Eds6b, Formerly

Dündar Syndrome

Eds6b Formerly

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Ehlers-Danlos Syndrome, Musculocontractural Type, 1, also known as ehlers-danlos syndrome, musculocontractural type 1, is related to clubfoot and exostosis, and has symptoms including constipation An important gene associated with Ehlers-Danlos Syndrome, Musculocontractural Type, 1 is CHST14 (Carbohydrate Sulfotransferase 14), and among its related pathways/superpathways are Metabolism and Metapathway biotransformation Phase I and II. Affiliated tissues include skin and bone, and related phenotypes are scoliosis and high palate

Related ID：

MALACARDS：EHL080

OMIM：601776

MESH：D004535