Mandibuloacral Dysplasia with Type a Lipodystrophy (MADA)

Alias:
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
Related Drugs
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
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
2
45
35

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
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