Restrictive Dermopathy

Restrictive Dermopathy(来自ICD-11)

别称:

Lethal Restrictive Dermopathy

Lethal Hyperkeratosis-Contracture Syndrome

Lethal Tight Skin Contracture Syndrome

Lethal Tight Skin-Contracture Syndrome

Tight Skin Contracture Syndrome, Lethal

Hyperkeratosis-Contracture Syndrome

Infantile Restrictive Dermopathy

Tight Skin Contracture Syndrome

Restrictive Dermopathy, Lethal

Dermopathy, Restrictive

Favorite

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Restrictive Dermopathy, also known as lethal restrictive dermopathy, is related to restrictive dermopathy 1 and mandibuloacral dysplasia with type b lipodystrophy. An important gene associated with Restrictive Dermopathy is ZMPSTE24 (Zinc Metallopeptidase STE24), and among its related pathways/superpathways are Familial partial lipodystrophy and Progeria-associated lipodystrophy. Affiliated tissues include skin and placenta, and related phenotypes are stiff skin and osteopenia

查看原文参与反馈