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Papilloma of choroid plexus

1 OMIM reference -
1 associated gene
10 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Hypotrichosis simplex

7 OMIM references -
6 associated genes
12 signs/symptoms

Papilloma of choroid plexus

Hypotrichosis simplex

TP53	(UniProt - OMIM)		APCDD1	(UniProt - OMIM)
			DSG4	(UniProt - OMIM)
			LIPH	(UniProt - OMIM)
			LPAR6	(UniProt - OMIM)
			RPL21	(UniProt - OMIM)
			SNRPE	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TP53	(0.63)	RPL21

Citations in the biomedical literature:

Papilloma of choroid plexus		Hypotrichosis simplex
	Synonym(s): (no synonyms)		Synonym(s): - Hereditary hypotrichosis simplex

	Classification (Orphanet): - Rare neurologic disease - Rare oncologic disease		Classification (Orphanet): - Rare genetic disease - Rare skin disease

	Classification (ICD10): - Neoplasms -		Classification (ICD10): - Diseases of the skin and subcutaneous tissue -

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

	External references: 1 OMIM reference - 1 MeSH reference: D020288		External references: 7 OMIM references - 1 MeSH reference: C537160


COMMON SIGNS	- Autosomal recessive inheritance

Papilloma of choroid plexus		Hypotrichosis simplex
	Very frequent - 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 - Absent / decreased lashes - Absent / decreased / thin eyebrows - Alopecia - Autosomal dominant inheritance - Decreased body hair / axillar / pubic hairlessness - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness Frequent - Lanugo - Woolly / frizzy hair Occasional - Follicular / erythematous / edematous papules / milium - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Pruritus / itching