ODCs

Cytoscape Web

Click node...

Angelman syndrome

1 OMIM reference -
5 associated genes
21 signs/symptoms

PROTEIN INTERACTIONS: 2
COMMON SIGNS: 2

Papilloma of choroid plexus

1 OMIM reference -
1 associated gene
10 signs/symptoms

Angelman syndrome

Papilloma of choroid plexus

ATP10A	(UniProt - OMIM)		TP53	(UniProt - OMIM)
CYFIP1	(UniProt - OMIM)
OCA2	(UniProt - OMIM)
SNRPN	(UniProt - OMIM)
UBE3A	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	UBE3A SNRPN	(0.89) (0.73)	TP53 TP53

Citations in the biomedical literature:

Angelman syndrome		Papilloma of choroid plexus

	Classification (Orphanet): (no data available)		Classification (Orphanet): - Rare neurologic disease - Rare oncologic disease

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

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: sporadic		Epidemiological data: (no data available)

	External references: 1 OMIM reference - 1 MeSH reference: D017204		External references: 1 OMIM reference - 1 MeSH reference: D020288


COMMON SIGNS	- Intellectual deficit / mental / psychomotor retardation / learning disability - Seizures / epilepsy / absences / spasms / status epilepticus

Angelman syndrome		Papilloma of choroid plexus
	Very frequent - Anomalies of eyes and vision - Ataxia / incoordination / trouble of the equilibrium - Brachycephaly / flat occiput - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - EEG anomalies - Face / facial anomalies - Hypotonia - Insterstitial / subtelomeric microdeletion / deletion - Macroglossia / tongue protrusion / proeminent / hypertrophic - Microcephaly - Prognathism / prognathia - Psychic / behavioural troubles - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Depressed premaxillary region / midface - Hypereflexia - Macrostomia / big mouth Occasional - Inguinal / inguinoscrotal / crural hernia - Strabismus / squint		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