Mandibuloacral Dysplasia with Type B Lipodystrophy (MADB)

Alias:
Madb
Lipodystrophy, Type B, Associated with Mandibuloacral Dysplasia
Lipodystrophy Type B Associated with Mandibuloacral Dysplasia
Dysplasia, Mandibuloacral, with Type B Lipodystrophy
Mandibuloacral Dysplasia Type B Lipodystrophy
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Mandibuloacral Dysplasia with Type B Lipodystrophy, also known as madb, is related to mandibuloacral dysplasia with type a lipodystrophy and calcinosis. An important gene associated with Mandibuloacral Dysplasia with Type B Lipodystrophy is ZMPSTE24 (Zinc Metallopeptidase STE24). Affiliated tissues include skin and bone, and related phenotypes are micrognathia and abnormality of the skeletal system
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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1
6
14

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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