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Summary Literature (0)
DOID:0081129 - mandibuloacral dysplasia type B lipodystrophy

Disease Ontology Definition:A mandibuloacral dysplasia that has_material_basis_in compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34 and that is characterized by postnatal growth retardation, craniofacial anomalies such as mandibular hypoplasia, skeletal anomalies such as progressive osteolysis of the terminal phalanges and clavicles, and skin changes such as mottled hyperpigmentation and atrophy. The lipodystrophy is characterized by generalized loss of subcutaneous fat involving the face, trunk, and extremities.

Synonyms:

Xenbase Genes : zmpste24


MIM:
MIM:608612 - MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; MADB

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), mandibuloacral dysplasia (is_a)