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1 OMIM reference -
1 associated gene
10 signs/symptoms
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
No signs/symptoms info
Papilloma of choroid plexus
Hypohidrotic ectodermal dysplasia with immunodeficiency

TP53 IKBKG
NFKBIA


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TP53
(0.94)
NFKBIA



Citations in the biomedical literature:


Papilloma of choroid plexus
TP53
Hypohidrotic ectodermal dysplasia with immunodeficiency
IKBKG NFKBIA



Papilloma of choroid plexus
Hypohidrotic ectodermal dysplasia with immunodeficiency

Synonym(s):
(no synonyms)

Synonym(s):
- Anhidrotic ectodermal dysplasia with immunodeficiency
- EDA-ID
- HED-ID

Classification (Orphanet):
- Rare neurologic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare immune disease
- Rare skin disease

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: child / adolescent
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: D020288
External references:
2 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


Hypohidrotic ectodermal dysplasia with immunodeficiency

(no data available)