IllnessDenys-Drash syndrome

Request form illness

Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion Denys-Drash syndrome

DS0090

Number of genes

1 Accredited laboratory test

Examined sequence length

1,6 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
WT1	1569	607102	NM_024426.6	AD, SMu

Informations about the disease

Clinical Comment

Syndromic glomerular disorder with associated nephropathy, persistent proteinuria/overt nephrotic syndrome, Wilms tumor + genitourinary structural defects. Disorders of testicular development common in 46XY karyotype

Synonyms

WT1 disorders: Denys-Drash, Frasier, Meacham syndromes, glomerulopathy, symptome overlap (WT1)
Alias: Drash syndrome (WT1)
Alias: Nephropathy, Wilms tumor, genital anomalies (WT1)
Alias: Wilms tumor + pseudo- or true hermaphroditism (WT1)
Alias: Wilms tumor-DSD syndrome (WT1)
Alias: Wilms tumor-disorder of sex development syndrome (WT1)
Allelic: Frasier syndrome (WT1)
Allelic: Meacham syndrome (sometimes WT1)
Allelic: Mesothelioma, somatic (WT1)
Allelic: Nephrotic syndrome type 4 (WT1)
Allelic: Wilms tumor, type 1 (WT1)

Heredity, heredity patterns etc.

OMIM-Ps

607102

ICD10 Code

Bioinformatics and clinical interpretation

No text defined