Disease

Mandibuloacral Dysplasia With Type A Lipodystrophy

About the Disease
Mandibuloacral Dysplasia with Type a Lipodystrophy, also known as mandibuloacral dysplasia, is related to hutchinson-gilford progeria syndrome and restrictive dermopathy 1, and has symptoms including joint stiffness An important gene associated with Mandibuloacral Dysplasia with Type a Lipodystrophy is LMNA (Lamin A/C), and among its related pathways/superpathways are Adipogenesis and Overlap between signal transduction pathways contributing to LMNA laminopathies. Affiliated tissues include skin, bone and eye, and related phenotypes are high palate and short stature

Common Targets
ZMPSTE24 | LMNA | POLD1

疾病靶点研报
Mandibuloacral Dysplasia With Type A Lipodystrophy

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