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Papilloma of choroid plexus

1 OMIM reference -
1 associated gene
10 signs/symptoms

PROTEIN INTERACTIONS: 1

Branchio-oculo-facial syndrome

1 OMIM reference -
1 associated gene
37 signs/symptoms

Papilloma of choroid plexus

Branchio-oculo-facial syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TP53	(0.9)	TFAP2A

Citations in the biomedical literature:

Papilloma of choroid plexus		Branchio-oculo-facial syndrome
	Synonym(s): (no synonyms)		Synonym(s): - BOFS

	Classification (Orphanet): - Rare neurologic disease - Rare oncologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease

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

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: D020288		External references: 1 OMIM reference - No MeSH references

Papilloma of choroid plexus		Branchio-oculo-facial 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 - Intellectual deficit / mental / psychomotor retardation / learning disability - Mild visual loss / impaired visual acuity - Neoplasms / tumors - Seizures / epilepsy / absences / spasms / status epilepticus		Very frequent - Autosomal dominant inheritance - Branchial / posterior auricular / preauricular / cheek cysts / fistulae - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Conductive deafness / hearing loss - Dermoid sinus / dimple / pit (excluding sacral) - External ear anomalies - Low set ears / posteriorly rotated ears - Philtrum deeply grooved - Protruding lips - Retinoschisis / retinal / chorioretinal coloboma - Skin hypoplasia / aplasia / atrophy Frequent - Abnormal cry / voice / phonation disorder / nasal speech - Anodontia / oligodontia / hypodontia - Broad nose / nasal bridge - Coloboma of iris - Complete / partial microdontia - Defect / anomaly of lacrimal system - Dolichocephaly / scaphocephaly - Dysplastic / thick / grooved fingernails - High vaulted / narrow palate - Intrauterine growth retardation - Lateral cleft lip / gingival cleft / paramedian nasal cleft - Premature greying of hair - Short columella / depressed nasal tip - Short stature / dwarfism / nanism - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Upslanted palpebral fissures / mongoloid slanting palpebral fissures Occasional - Agenesis / hypoplasia / aplasia of kidneys - Cataract / lens opacification - Cleft lip and palate - Lip pits / fistulae - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Microcornea - Multicystic kidney / renal dysplasia - Preaxial polydactyly (hand) - Ptosis - Strabismus / squint