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Papilloma of choroid plexus

1 OMIM reference -
1 associated gene
10 signs/symptoms

PROTEIN INTERACTIONS: 2
COMMON SIGNS: 1

Kearns-Sayre syndrome

1 OMIM reference -
3 associated genes
14 signs/symptoms

Papilloma of choroid plexus

Kearns-Sayre syndrome

TP53	(UniProt - OMIM)		MT-ATP8	(UniProt - OMIM)
			MT-TL1	(OMIM)
			RRM2B	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TP53 TP53	(0.87) (0.73)	RRM2B MT-TL1

Citations in the biomedical literature:

Papilloma of choroid plexus		Kearns-Sayre syndrome

	Classification (Orphanet): - Rare neurologic disease - Rare oncologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare cardiac disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare otorhinolaryngologic disease

	Classification (ICD10): - Neoplasms -		Classification (ICD10): - Diseases of the eye and adnexa -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: childhood Average age of death: young adult Type of inheritance: mitochondrial inheritance

	External references: 1 OMIM reference - 1 MeSH reference: D020288		External references: 1 OMIM reference - 1 MeSH reference: D007625


COMMON SIGNS	- Hemiplegia / diplegia / hemiparesia / limb palsy

Papilloma of choroid plexus		Kearns-Sayre syndrome
	Very frequent - Autosomal recessive inheritance - Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer - Hydrocephaly - Structural anomalies of the nervous system Occasional - 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 - Cardiac conduction defect / sinoauricular / heart / auriculoventricular / branch block - Ophthalmoplegia / ophthalmoparesis / oculomotor palsy - Retinitis pigmentosa / retinal pigmentary changes Frequent - Abnormal EMG / electromyogram / electropmyography - Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase - Areflexia / hyporeflexia - Ataxia / incoordination / trouble of the equilibrium - Hearing loss / hypoacusia / deafness - Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism - Hypotonia - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Short stature / dwarfism / nanism Occasional - Delayed bone age