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5 OMIM references -
4 associated genes
11 signs/symptoms

PROTEIN INTERACTIONS: 1

Renal coloboma syndrome

1 OMIM reference -
1 associated gene
14 signs/symptoms

Nephroblastoma

Renal coloboma syndrome

DIS3L2	(UniProt - OMIM)		PAX2	(UniProt - OMIM)
H19	(OMIM)
POU6F2	(UniProt - OMIM)
WT1	(UniProt - OMIM)


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

Citations in the biomedical literature:

Nephroblastoma		Renal coloboma syndrome
	Synonym(s): - Renal embryonic tumor - Wilms tumor		Synonym(s): - Coloboma of optic nerve with renal disease - Papillo-renal syndrome

	Classification (Orphanet): - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare renal disease

	Classification (ICD10): - Neoplasms -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: childhood Average age of death: any age Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant

	External references: 5 OMIM references - 1 MeSH reference: D009396		External references: 1 OMIM reference - No MeSH references

Nephroblastoma		Renal coloboma syndrome
	Very frequent - Acute abdominal pain / colic - Kidney / renal neoplasm / tumor / carcinoma / cancer - Neoplasms / tumors Occasional - Aniridia / iris hypoplasia - Chronic arterial hypertension - Fever / chilling - Hematuria / microhematuria - Hepatic / liver neoplasm / tumor / carcinoma / cancer - Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer - Lymphadenopathy / polyadenopathies - Weight loss / loss of appetite / break in weight curve / general health alteration		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