Alport syndrome with diffuse leiomyomatosis

Also known as: Alport–leiomyomatosis

Alport syndrome with esophageal leiomyomatosis from contiguous deletion.

Medical specialty: Nephrology
Subspecialty: Nephrology / Hereditary kidney disease
Sex & age distribution: Male: affected; Female: affected; Children: yes
Gene(s) involved: COL4A5, COL4A6

Etiology & mechanism

COL4A5 and COL4A6 deletion.

Gene(s) involved (2)

COL4A5COL4A6

Symptoms & signs (5)

dysphagiahearing losshematuriakidney failureleiomyomas

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.