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1 OMIM reference -
1 associated gene
10 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
22 signs/symptoms
Papilloma of choroid plexus
ADULT syndrome

TP53 TP63


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TP53
(0.91)
TP63



Citations in the biomedical literature:


Papilloma of choroid plexus
TP53
ADULT syndrome
TP63



Papilloma of choroid plexus
ADULT syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Acro-dermato-ungual-lacrimal-tooth syndrome
- Pigment anomaly - ectrodactyly - hypodontia

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

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

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

External references:
1 OMIM reference -
1 MeSH reference: D020288
External references:
1 OMIM reference -
1 MeSH reference: C538052

Papilloma of choroid plexus
ADULT syndrome

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


Very frequent
- Anomalies of eyelids, eyelashes and lacrimal system
- Anomalies of teeth and dentition
- Chronic skin infection / ulcerations / ulcers / cancrum
- Dry / squaly skin / exfoliation
- Dysplastic / thick / grooved fingernails
- Dysplastic / thick / grooved toenails
- Excessive freckling
- Fine hair
- Nails anomalies
- Oligodactyly / ectrodactyly of toes
- Pigmented naevi / naevus pigmentosus / lentigo
- Syndactyly of fingers / interdigital palm
- Syndactyly of toes
- Thin skin

Frequent
- Alopecia
- Breast tissue / mammary gland absence / aplasia
- Hypoplastic / absent nipples
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Tooth shape anomaly

Occasional
- Broad nose / nasal bridge
- Face / facial anomalies
- High nasal bridge