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Papilloma of choroid plexus

1 OMIM reference -
1 associated gene
10 signs/symptoms

PROTEIN INTERACTIONS: 1

Focal facial dermal dysplasia

4 OMIM references -
2 associated genes
15 signs/symptoms

Papilloma of choroid plexus

Focal facial dermal dysplasia

TP53	(UniProt - OMIM)		CYP26C1	(UniProt - OMIM)
			TWIST2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TP53	(0.56)	TWIST2

Citations in the biomedical literature:

Papilloma of choroid plexus		Focal facial dermal dysplasia
	Synonym(s): (no synonyms)		Synonym(s): - Bitemporal aplasia cutis congenital - Brauer syndrome - FFDD type I - Hereditary symmetrical aplastic nevi of temples

	Classification (Orphanet): - Rare neurologic disease - Rare oncologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease

	Classification (ICD10): - Neoplasms -		Classification (ICD10): (no data available)

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: <1 / 1 000 000 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: 4 OMIM references - 2 MeSH references: C536385 / C537068

Papilloma of choroid plexus		Focal facial dermal dysplasia
	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 - Abnormal fat distribution / lipodystrophy - Abnormal scarring / cheloids / hypertrophic scars - Anomalies of eyelids, eyelashes and lacrimal system - Autosomal dominant inheritance - Facial dysmorphism - Irregular / in bands / reticular skin hyperpigmentation - Muscle anomalies - Rippled skin - Skin hypoplasia / aplasia / atrophy Frequent - Anomalies of mouth, lip and philtrum - Anomalies of nose and olfaction - Depressed nasal bridge - Eyebrows anomalies - Pointed chin - Puffy eyelids