FaCD Online Syndrome Fact Sheet

Last updated: 26 May 2009

Name: Alport syndrome with Diffuse Leiomyomatosis

Mode of Inheritance: XLD/ cgd

OMIM number: 308940  


COL4A5, mapped to Xq22-q24
COL4A6, mapped to Xq22-q24

Tumor features

bronchioli, leiomyoma of the
esophageal leiomyoma
gastric leiomyoma
leiomyoma of the clitoris
leiomyoma of the urethra
trachea, leiomyoma of the
uterine leiomyoma
vulvar leiomyoma

Non-tumor features

cataract, congenital
hearing loss, neurosensory


Alport syndrome is characterized by hematuric nephropathy, in most cases leading to renal failure, (usually progressive) sensineuronal deafness and ocular anomalies (maculopathy and anterior lenticonus). Some of the patients with Alport syndrome develop diffuse leiomyomatosis (especially of esophagus and less often the vulva and other anatomical sites). These patients also frequently have severe cataracts. The esophageal leiomyomas appear to develop earlier among boys (average age 6 years compared with 14 years in girls). [1-4].
Alport syndrome is genetically heterogeneous. The specific subset of patients/families with Alport syndrome and leiomyomatosis is associated with deletions extending from within the COL4A5 gene to the neighboring COL4A6 gene[5,6]. Multiple giant gastro-esophageal leiomas have been reported in the absence of such a detectable deletion[7]


[1] Garcia-Torres R, Orozco L. Alport-leiomyomatosis syndrome: an update. Am J Kidney Dis 1993; 22(5):641-648.
[2] Zhou J, Mochizuki T, Smeets H, Antignac C, Laurila P, De Paepe A, Tryggvason K, Reeders ST. Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors. Science 1993; 261(5125):1167-1169.
[3] Antignac C, Heidet L. Mutations in Alport syndrome associated with diffuse esophageal leiomyomatosis.Contrib Nephrol. 1996;117:172-82
[4] Anker MC, Arnemann J, Neumann K, Ahrens P, Schmidt H, König R. Alport syndrome with diffuse leiomyomatosis. American journal of medical genetics. Part A 2003; 119(3):381-5.
[5] Garcia-Torres R, Cruz D, Orozco L, Heidet L, Gubler MC. Alport syndrome and diifuse leiomyomatosis. Clinical aspects, pathology, molecular biology and extracellular matrix studies. A synthesis. Nephrologie 2000; 21(1):9-12.
[6] Thielen BK, Barker DF, Nelson RD, Zhou J, Kren SM, Segal Y. Deletion mapping in Alport syndrome and Alport syndrome-diffuse leiomyomatosis reveals potential mechanisms of visceral smooth muscle overgrowth. Human mutation 2003; 22(5):419.
[7] Prenzel KL, Schäfer E, Stippel D, Beckurts KT, Hölscher AH. Multiple giant leiomyomas of the esophagus and stomach. Diseases of the esophagus : official journal of the International Society for Diseases of the Esophagus / I.S.D.E 2006; 19(6):504-8.