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2 OMIM references -
3 associated genes
18 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Renal coloboma syndrome

1 OMIM reference -
1 associated gene
14 signs/symptoms

WAGR syndrome

Renal coloboma syndrome

BDNF	(UniProt - OMIM)		PAX2	(UniProt - OMIM)
PAX6	(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:

WAGR syndrome		Renal coloboma syndrome
	Synonym(s): - Deletion 11p13 - Monosomy 11p13 - Wilms tumor - aniridia - genitourinary anomalies - intellectual deficit		Synonym(s): - Coloboma of optic nerve with renal disease - Papillo-renal syndrome

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye 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): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - 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: 2 OMIM references - 2 MeSH references: C538295 / D017624		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Nystagmus - Visual loss / blindness / amblyopia

WAGR syndrome		Renal coloboma syndrome
	Very frequent - Aniridia / iris hypoplasia - Intellectual deficit / mental / psychomotor retardation / learning disability Frequent - Anomalies of ear and hearing - Cataract / lens opacification - Hypospadias / epispadias / bent penis - Microcephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Protruding lips - Ptosis - Short stature / dwarfism / nanism - Undescended / ectopic testes / cryptorchidia / unfixed testes Occasional - Ambiguous genitalia - Generalized obesity - Glaucoma - Inguinal / inguinoscrotal / crural hernia - Scoliosis		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 Occasional - Coloboma of the optic nerve - Hearing loss / hypoacusia / deafness - Hyperextensible joints / articular hyperlaxity - Retinoschisis / retinal / chorioretinal coloboma - Strabismus / squint