Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 (EDSSPD1)

Alias:

Ehlers-Danlos Syndrome with Short Stature and Limb Anomalies

Xylosylprotein 4-Beta-Galactosyltransferase Deficiency

Ehlers-Danlos Syndrome Spondylodysplastic Type 1

Galactosyltransferase I Deficiency

Xgpt Deficiency

Edsspd1

Edssla

Ehlers-Danlos, Progeroid, Spondylodysplastic Syndrome, Type 1

B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome

Ehlers-Danlos Syndrome, Progeroid Type, 1, Formerly

Proteodermatan Sulfate, Defective Biosynthesis of

Defective Biosynthesis of Proteodermatan Sulfate

Proteodermatan Sulfate Defective Biosynthesis of

Eds with Short Stature and Limb Anomalies

Ehlers-Danlos Syndrome, Progeroid Type, 1

B4galt7-Related Spondylodysplastic Eds

Ehlers-Danlos Syndrome, Progeroid Form

Pds, Defective Biosynthesis of

Dermatan Sulfate Proteoglycan

Defective Biosynthesis of Pds

Eds Progeroid Type 1

Edsp1, Formerly

Speds-B4galt7

Edsp1

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1, also known as ehlers-danlos syndrome with short stature and limb anomalies, is related to ehlers-danlos syndrome, spondylodysplastic type, 2 and ehlers-danlos syndrome. An important gene associated with Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 is B4GALT7 (Beta-1,4-Galactosyltransferase 7), and among its related pathways/superpathways are Metabolism and Chondroitin sulfate/dermatan sulfate metabolism. Affiliated tissues include skin and bone, and related phenotypes are macrocephaly and hypotonia

Related ID：

MALACARDS：EHL076

OMIM：130070

MESH：D004535