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GTR Home > Conditions/Phenotypes > ALDH18A1-related de Barsy syndrome

ALDH18A1-related de Barsy syndrome

Synonyms
ALDH18A1-Related Cutis Laxa; Cutis laxa, autosomal recessive IIIA; DE BARSY SYNDROME A
Modes of inheritance
Autosomal recessive inheritance (Orphanet)
Not genetically inherited (Orphanet)

Summary

De Barsy syndrome, or autosomal recessive cutis laxa type III (ARCL3), is characterized by cutis laxa, a progeria-like appearance, and ophthalmologic abnormalities (summary by Kivuva et al., 2008). For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see 219100. Genetic Heterogeneity of de Barsy Syndrome Also see ARCL3B (614438), caused by mutation in the PYCR1 gene (179035) on chromosome 17q25. [from OMIM]

Available tests

49 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (49 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ADCL3, ARCL3A, GSAS, P5CS, PYCS, SPG9, SPG9A, SPG9B, ALDH18A1
    Summary: aldehyde dehydrogenase 18 family member A1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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