Mandibuloacral Dysplasia with Type a Lipodystrophy (MADA)

Mandibuloacral Dysplasia with Type a Lipodystrophy(来自ICD-11)
别称:
Mandibuloacral Dysplasia
Mada
Craniomandibular Dermatodysostosis
Mandibuloacral Dysostosis
Mad
Lipodystrophy, Type a, Associated with Mandibuloacral Dysplasia
Lipodystrophy Type a Associated with Mandibuloacral Dysplasia
Mandibuloacral Dysplasia with Type a Lipodystrophy, Atypical
Mandibuloacral Dysplasia with Type a Lipodystrophy Atypical
Tendinous Calcinosis Arthropathy and Progeroid Features
Dysplasia, Mandibuloacral, with Type a Lipodystrophy
Mandibuloacral Dysplasia Type a Lipodystrophy
Dysplasia, Mandibuloacral
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Basic Information
Medical Symptom
Gene & Mutation
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Disease Model
References Literature
Mandibuloacral Dysplasia with Type a Lipodystrophy, also known as mandibuloacral dysplasia, is related to hutchinson-gilford progeria syndrome and acroosteolysis, 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 and bone, and related phenotypes are high palate and short stature
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基础信息

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参考文献
MALACARDS
AR
Newborn
<1/1000000
2
45
35

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MGI
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