X-linked reticulate pigmentary disorder

Term ID

DOID:0111834

Synonyms

• Partington disease
• X-linked reticulate pigmentary disorder with systemic manifestations

Definition

A pigmentation disease characterized by early onset of recurrent respiratory infections, failure to thrive resulting from inflammatory gastroenteritis or colitis, and reticular pigmentation abnormalities of the skin in hemizygous males and only pigmentary abnormalities along the lines of Blaschko in heterozygous females that has_material_basis_in mutation in the POLA1 gene on chromosome Xp22.1-p21.3. https://www.ncbi.nlm.nih.gov/pubmed/27019227

References

• MESH:C564461
• OMIM:301220
• ORDO:85453
• SNOMEDCT_US_2023_03_01:717224002
• UMLS_CUI:C1845050

Ontology

Human Disease   ( DOID:0111834 )