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X-linked cutis laxa; occipital horn syndrome

Pathology: - disorder of copper metabolism Genetics: - X-linked recessiv - associated with mutation in ATP7A gene Clinical manifestations: 1) unusual facial appearance 2) skeletal abnormalities a) occipital horns b) short, broad clavicles c) deformed radiuse, ulna & humerus d) narrowing of the rib cage e) undercalcified long bones with thin cortical walls f) coxa valga 3) chronic diarrhea 4) genitourinary defects Laboratory: - ATP7A gene mutation

Related

copper transporting ATPase-1; copper pump-1; Cu+2-transporting ATPase alpha polypeptide; Menke's disease-associated protein (ATP7A, MNK)

General

cutis laxa; elastolysis; loose skin; pachydermatocele

Properties

DEFICIENCY: lysyl oxidase

Database Correlations

OMIM correlations MORBIDMAP 300011

References

  1. UniProt :accession Q04656
  2. ARUP Consult: ATP7A-Related Copper Transport Disorders https://arupconsult.com/ati/atp7a-related-copper-transport-disorders