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Papilloma of choroid plexus

1 OMIM reference -
1 associated gene
10 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

2 OMIM references -
3 associated genes
18 signs/symptoms

Papilloma of choroid plexus

WAGR syndrome

TP53	(UniProt - OMIM)		BDNF	(UniProt - OMIM)
			PAX6	(UniProt - OMIM)
			WT1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TP53	(0.86)	WT1

Citations in the biomedical literature:

Papilloma of choroid plexus		WAGR syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Deletion 11p13 - Monosomy 11p13 - Wilms tumor - aniridia - genitourinary anomalies - intellectual deficit

	Classification (Orphanet): - Rare neurologic disease - Rare oncologic disease		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 (ICD10): - Neoplasms -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

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

	External references: 1 OMIM reference - 1 MeSH reference: D020288		External references: 2 OMIM references - 2 MeSH references: C538295 / D017624


COMMON SIGNS	- Intellectual deficit / mental / psychomotor retardation / learning disability

Papilloma of choroid plexus		WAGR syndrome
	Very frequent - Autosomal recessive inheritance - Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer - Hydrocephaly - Structural anomalies of the nervous system Occasional - Hemiplegia / diplegia / hemiparesia / limb palsy - Hypertonia / spasticity / rigidity / stiffness - Mild visual loss / impaired visual acuity - Neoplasms / tumors - Seizures / epilepsy / absences / spasms / status epilepticus		Very frequent - Aniridia / iris hypoplasia Frequent - Anomalies of ear and hearing - Cataract / lens opacification - Hypospadias / epispadias / bent penis - Microcephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Nystagmus - Protruding lips - Ptosis - Short stature / dwarfism / nanism - Undescended / ectopic testes / cryptorchidia / unfixed testes - Visual loss / blindness / amblyopia Occasional - Ambiguous genitalia - Generalized obesity - Glaucoma - Inguinal / inguinoscrotal / crural hernia - Scoliosis