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Denys-Drash syndrome

1 OMIM reference -
1 associated gene
7 signs/symptoms

PROTEIN INTERACTIONS: 1

Renal coloboma syndrome

1 OMIM reference -
1 associated gene
14 signs/symptoms

Denys-Drash syndrome

Renal coloboma syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	WT1	(0.62)	PAX2

Citations in the biomedical literature:

Denys-Drash syndrome		Renal coloboma syndrome
	Synonym(s): - Drash syndrome - Wilms tumor and pseudohermaphroditism		Synonym(s): - Coloboma of optic nerve with renal disease - Papillo-renal syndrome

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare oncologic disease - Rare renal disease - Rare urogenital disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare renal disease

	Classification (ICD10): - Diseases of the genitourinary system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: D030321		External references: 1 OMIM reference - No MeSH references

Denys-Drash syndrome		Renal coloboma syndrome
	Very frequent - Male pseudohermaphrodism / lack of virilisation - Nephroblastoma / Wilms tumor - Nephrotic syndrome - Proteinuria - Renal disease / nephropathy Frequent - Chronic arterial hypertension Occasional - Mixed gonadal dysgenesis		Very frequent - Autosomal dominant inheritance - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Renal failure Frequent - Agenesis / hypoplasia / aplasia of kidneys - Multicystic kidney / renal dysplasia - Myopia - Vesicorenal / vesicoureteral reflux - Visual loss / blindness / amblyopia Occasional - Coloboma of the optic nerve - Hearing loss / hypoacusia / deafness - Hyperextensible joints / articular hyperlaxity - Nystagmus - Retinoschisis / retinal / chorioretinal coloboma - Strabismus / squint