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1 OMIM reference -
1 associated gene
10 signs/symptoms
PROTEIN INTERACTIONS: 1
3 OMIM references -
2 associated genes
No signs/symptoms info
Papilloma of choroid plexus
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia

TP53 MUC1
UMOD


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TP53
(0.7)
MUC1



Citations in the biomedical literature:


Papilloma of choroid plexus
TP53
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
MUC1 UMOD



Papilloma of choroid plexus
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia

Synonym(s):
(no synonyms)

Synonym(s):
- Autosomal dominant nephronophthisis

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

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

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant

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

Papilloma of choroid plexus

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


Autosomal dominant medullary cystic kidney disease with or without hyperuricemia

(no data available)