Details of Disease

General Information of Disease (ID: DISZZ6TI)

Disease Name Mandibuloacral dysplasia with type A lipodystrophy
Synonyms
Mandibuloacral dysplasia with type a lipodystrophy, atypical; lipodystrophy, type A, associated with Mandibuloacral dysplasia; craniomandibular Dermatodysostosis; MADA; MANDIBULOACRAL dysplasia with type A lipodystrophy; mandibuloacral dysplasia; mandibuloacral dysplasia with type A lipodystrophy
Definition
A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk.
Disease Hierarchy
DISMOYL1: Mandibuloacral dysplasia
DISFPEQA: Laminopathy
DISZZ6TI: Mandibuloacral dysplasia with type A lipodystrophy
Disease Identifiers
MONDO ID
MONDO_0009557
MESH ID
C535705
UMLS CUI
C5399785
OMIM ID
248370
MedGen ID
1757618
Orphanet ID
90153
SNOMED CT ID
1003431005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
LMNA OT3SG7ZR Strong Autosomal recessive [1]
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References

1 Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome. J Med Genet. 2004 Aug;41(8):609-14. doi: 10.1136/jmg.2004.019661.