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mandibuloacral dysplasia with type A lipodystrophy

Disease Summary
Associated Targets (2)
Tchem

1

Tbio

1


GARD Rare
Mondo Description 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.
Uniprot Description A disorder characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of the cranial suture, progeroid appearance, partial alopecia, soft tissue calcinosis, joint contractures, and partial lipodystrophy with loss of subcutaneous fat from the extremities. Adipose tissue in the face, neck and trunk is normal or increased.
Mondo Term and Equivalent IDs
MONDO:0009557:  mandibuloacral dysplasia with type A lipodystrophy
GARD:0003374: 
MESH:C535705: 
NCIT:C123417: 
Orphanet:90153: 
SCTID:109419009: 
UMLS:CN206381: 
UMLS:CN236772: