Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 (EDSARTH1)

Alias:

Arthrochalasis Multiplex Congenita

Ehlers-Danlos Syndrome, Arthrochalasia Type

Arthrochalasia Ehlers-Danlos Syndrome

Ehlers-Danlos Syndrome, Type Viia

Ehlers-Danlos Syndrome Type 7a

Ehlers-Danlos Syndrome Type 7

Arthrochalasia Eds

Edsarth1

Eds Viia

Eds Vii

Eds7a

Aeds

Ehlers-Danlos Syndrome, Type Viia, Autosomal Dominant

Ehlers-Danlos Syndrome Type Viia, Autosomal Dominant

Ehlers-Danlos Syndrome Arthrochalasia Type 1

Ehlers-Danlos Syndrome, Arthrochalasis Type

Ehlers-Danlos Syndrome Arthrochalasic Type

Eds Vii, Mutant Procollagen Type

Eds Vii Mutant Procollagen Type

Ehlers-Danlos Syndrome 7a

Eds Viib

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Ehlers-Danlos Syndrome, Arthrochalasia Type, 1, also known as arthrochalasis multiplex congenita, is related to ehlers-danlos syndrome, classic type, 1 and connective tissue disease. An important gene associated with Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 is COL1A1 (Collagen Type I Alpha 1 Chain), and among its related pathways/superpathways are Vesicle-mediated transport and Response to elevated platelet cytosolic Ca2+. The drugs Carbamazepine and Phenytoin have been mentioned in the context of this disorder. Affiliated tissues include skin and bone, and related phenotypes are aphasia and hypotonia

Related ID：

MALACARDS：EHL075

OMIM：130060

MESH：D004535