Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 (EDSSPD2)

Alias:

Ehlers-Danlos Syndrome, Progeroid Type, 2

Ehlers-Danlos Syndrome Progeroid Type

Ehlers-Danlos Syndrome Spondylodysplastic Type 2

Edsspd2

B3galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome

Xylosylprotein 4-Beta-Galactosyltransferase Deficiency

Ehlers-Danlos Syndrome, Progeroid Type, 2, Formerly

Ehlers-Danlos, Spondylodysplastic Syndrome, Type 2

Defective Biosynthesis of Proteodermatan Sulfate

Ehlers-Danlos Syndrome Progeroid Type 2

B3galt6-Related Spondylodysplastic Eds

Ehlers-Danlos Syndrome, Progeroid Form

Beta3galt6-Deficient Eds

B3galt6-Related Speds

Xgpt Deficiency

Edsp2, Formerly

Speds-B3galt6

Edsp2

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2, also known as ehlers-danlos syndrome, progeroid type, 2, is related to ehlers-danlos syndrome, spondylodysplastic type, 1 and ehlers-danlos syndrome. An important gene associated with Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 is B3GALT6 (Beta-1,3-Galactosyltransferase 6), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. Affiliated tissues include skin and bone, and related phenotypes are frontal bossing and osteopenia

Related ID：

MALACARDS：EHL085

OMIM：615349

MESH：D004535