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1 OMIM reference -
1 associated gene
10 signs/symptoms
PROTEIN INTERACTIONS: 1
2 OMIM references -
1 associated gene
14 signs/symptoms
Papilloma of choroid plexus
Complete androgen insensitivity syndrome

TP53 AR


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Papilloma of choroid plexus
TP53
Complete androgen insensitivity syndrome
AR



Papilloma of choroid plexus
Complete androgen insensitivity syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- CAIS
- Complete androgen resistance syndrome

Classification (Orphanet):
- Rare neurologic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
- Rare urogenital 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: variable
Average age of death: normal
Type of inheritance: x-linked recessive

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

Papilloma of choroid plexus
Complete androgen insensitivity 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
- Decreased body hair / axillar / pubic hairlessness
- Male pseudohermaphrodism / lack of virilisation
- Primary amenorrhea
- Sterility / hypofertility
- Tall stature / gigantism / growth acceleration
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Uterine / uterus / Fallopian tubes anomalies

Frequent
- Inguinal / inguinoscrotal / crural hernia
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets

Occasional
- Contractures / cramps / trismus / tetania / claudication / opisthotonos
- Gynecomastia / breast / mammary gland enlargement / hyperplasia
- Sensitive trouble / deficit
- Testicular / seminal neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Tremor