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GTR Home > Conditions/Phenotypes > X-linked reticulate pigmentary disorder

X-linked reticulate pigmentary disorder

Synonyms
Pigmentary disorder, reticulate, with systemic manifestations, X-linked
Modes of inheritance
X-linked dominant inheritance (Orphanet)

Summary

X-linked reticulate pigmentary disorder shows more severe manifestations in hemizygous males compared to heterozygous females. Affected males have early onset of recurrent respiratory infections and failure to thrive resulting from inflammatory gastroenteritis or colitis. Patients also show reticular pigmentation abnormalities of the skin and may develop corneal scarring. Carrier females may be unaffected or have only pigmentary abnormalities along the lines of Blaschko (summary by Starokadomskyy et al., 2016). [from OMIM]

Available tests

16 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (16 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: NSX, PDR, POLA, VEODS, p180, POLA1
    Summary: DNA polymerase alpha 1, catalytic subunit

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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