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

MUC1 TP53
UMOD


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


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



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

Synonym(s):
- Autosomal dominant nephronophthisis

Synonym(s):
(no synonyms)

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

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

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

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

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)