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1 OMIM reference -
1 associated gene
10 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Papilloma of choroid plexus
Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency

TP53 PHKB


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TP53
(0.63)
PHKB



Citations in the biomedical literature:


Papilloma of choroid plexus
TP53
Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
PHKB



Papilloma of choroid plexus
Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency

Synonym(s):
(no synonyms)

Synonym(s):
- GSD due to liver and muscle phosphorylase kinase deficiency
- GSD type 9B
- GSD type IXb
- Glycogen storage disease type 9B
- Glycogen storage disease type IXb
- Glycogenosis due to liver and muscle phosphorylase kinase deficiency
- Glycogenosis type 9B
- Glycogenosis type IXb

Classification (Orphanet):
- Rare neurologic disease
- Rare oncologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hepatic disease
- Rare neurologic disease

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal recessive

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


Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency

(no data available)