Nephrology · Nephrology / Renal oncology
Perlman syndrome
also: Renal hamartomatosis, nephroblastomatosis and fetal gigantism
Overgrowth with nephromegaly and early Wilms tumor.
- Specialty
- Nephrology
- Subspecialty
- Nephrology / Renal oncology
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, birth
- Gene(s) involved
- DIS3L2
- Alternative names & eponyms
- Renal hamartomatosis, nephroblastomatosis and fetal gigantism
Etiology & mechanism
DIS3L2 variants.
Gene(s) involved (1)
Symptoms & signs (5)
In plain terms, someone with Perlman syndrome 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
Simpson–Golabi–Behmel syndrome
macrosomia, wilms tumor
1 shared
Aniridia-Wilms tumor-genitourinary anomalies-retardation syndrome
wilms tumor
1 shared
Beckwith–Wiedemann syndrome
macrosomia
1 shared
Cantú syndrome
macrosomia
1 shared
Denys–Drash syndrome
wilms tumor
1 shared
WAGR syndrome
wilms tumor
Shares genes with
None.
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