Details of Disease

General Information of Disease (ID: DISMOYL1)

Disease Name Mandibuloacral dysplasia
Synonyms mandibuloacral dysplasia with lipodystrophy; MAD
Definition
Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy.
Disease Hierarchy
DISOTEY1: Primary osteolysis
DISMFQKM: Developmental anomaly of metabolic origin
DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
DIS1BE1A: Hereditary lipodystrophy
DISMOYL1: Mandibuloacral dysplasia
Disease Identifiers
MONDO ID
MONDO_0016584
UMLS CUI
C0432291
MedGen ID
98485
Orphanet ID
2457
SNOMED CT ID
109419009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
AGPAT2 TT9AYVR Strong Biomarker [1]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
LMNA OT3SG7ZR Limited Genetic Variation [2]
MTX2 OTBD8O8Y Supportive Autosomal recessive [3]
LMNB2 OTXRDUOS Strong Biomarker [1]
SUN2 OT2IQJUC Strong Biomarker [4]
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References

1 Thematic review series: Adipocyte Biology. Lipodystrophies: windows on adipose biology and metabolism.J Lipid Res. 2007 Jul;48(7):1433-44. doi: 10.1194/jlr.R700004-JLR200. Epub 2007 Mar 20.
2 Mandibuloacral dysplasia: A premature ageing disease with aspects of physiological ageing.Ageing Res Rev. 2018 Mar;42:1-13. doi: 10.1016/j.arr.2017.12.001. Epub 2017 Dec 5.
3 Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology. Nat Commun. 2020 Sep 11;11(1):4589. doi: 10.1038/s41467-020-18146-9.
4 Altered chromatin organization and SUN2 localization in mandibuloacral dysplasia are rescued by drug treatment.Histochem Cell Biol. 2012 Oct;138(4):643-51. doi: 10.1007/s00418-012-0977-5. Epub 2012 Jun 17.