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Papilloma of choroid plexus

1 OMIM reference -
1 associated gene
10 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5

Desmosterolosis

1 OMIM reference -
1 associated gene
38 signs/symptoms

Papilloma of choroid plexus

Desmosterolosis

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TP53	(0.65)	DHCR24

Citations in the biomedical literature:

Papilloma of choroid plexus		Desmosterolosis

	Classification (Orphanet): - Rare neurologic disease - Rare oncologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic 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: - Type of inheritance: autosomal recessive

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


COMMON SIGNS	- Autosomal recessive inheritance - Hydrocephaly - Hypertonia / spasticity / rigidity / stiffness - Intellectual deficit / mental / psychomotor retardation / learning disability - Seizures / epilepsy / absences / spasms / status epilepticus

Papilloma of choroid plexus		Desmosterolosis
	Very frequent - Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer - Structural anomalies of the nervous system Occasional - Hemiplegia / diplegia / hemiparesia / limb palsy - Mild visual loss / impaired visual acuity - Neoplasms / tumors		Very frequent - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Corpus callosum / septum pellucidum total / partial agenesis - Failure to thrive / difficulties for feeding in infancy / growth delay - Intrauterine growth retardation - Microcephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Short stature / dwarfism / nanism Frequent - Depressed nasal bridge - Dilated cerebral ventricles without hydrocephaly - Low set ears / posteriorly rotated ears - Microstomia / little mouth - Nasal atrophy / hypoplasia / arhinia / rudimentary nose - Nystagmus - Rib structure anomalies - Strabismus / squint - Thick / wide ear lobe Occasional - Agenesis / hypoplasia / aplasia of kidneys - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Ambiguous genitalia - Anomalies of tongue, gingiva and oral mucosa - Anomalous pulmonary venous return - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Epicanthic folds - Frontal bossing / prominent forehead - Intestinal / gut / bowel malrotation - Macrocephaly / macrocrania / megalocephaly / megacephaly - Osteosclerosis / osteopetrosis / bone condensation - Patent ductus arteriosus - Rhizomelic micromelia - Skin hypoplasia / aplasia / atrophy - Splenomegaly - Stillbirth / neonatal death - Talipes-varus / metatarsal varus