Nephrology · Nephrology / Hereditary kidney disease
Alport syndrome with diffuse leiomyomatosis
also: Alport–leiomyomatosis
Alport syndrome with esophageal leiomyomatosis from contiguous deletion.
- Specialty
- Nephrology
- Subspecialty
- Nephrology / Hereditary kidney disease
- Sex & age distribution
- Male: affected; Female: affected; Children: yes
- Gene(s) involved
- COL4A5, COL4A6
- Alternative names & eponyms
- Alport–leiomyomatosis
Etiology & mechanism
COL4A5 and COL4A6 deletion.
Gene(s) involved (2)
Symptoms & signs (5)
In plain terms, someone with Alport syndrome with diffuse leiomyomatosis may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
2 shared
Epstein syndrome
hearing loss, hematuria
1 shared
Alport syndrome
hematuria
1 shared
Alström syndrome
hearing loss
1 shared
Avellis syndrome
dysphagia
1 shared
Branchio-oto-renal syndrome
hearing loss
1 shared
Chanarin–Dorfman syndrome
hearing loss
1 shared
CHARGE syndrome
hearing loss
1 shared
Cockayne syndrome
hearing loss
1 shared
Cogan syndrome
hearing loss
1 shared
Cogan syndrome with neurological involvement
hearing loss
Shares genes with
Loading…
Loading…