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1 OMIM reference -
1 associated gene
10 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
2 OMIM references -
3 associated genes
18 signs/symptoms
Papilloma of choroid plexus
Cerebellar ataxia - hypogonadism

TP53 PNPLA6
RNF216
STUB1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TP53
(0.81)
STUB1



Citations in the biomedical literature:


Papilloma of choroid plexus
TP53
Cerebellar ataxia - hypogonadism
PNPLA6 RNF216 STUB1



Papilloma of choroid plexus
Cerebellar ataxia - hypogonadism

Synonym(s):
(no synonyms)

Synonym(s):
- Luteinizing hormone-releasing hormone deficiency with ataxia

Classification (Orphanet):
- Rare neurologic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
- Rare neurologic disease

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Diseases of the nervous system -

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

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


COMMON
SIGNS
- Hemiplegia / diplegia / hemiparesia / limb palsy


Papilloma of choroid plexus
Cerebellar ataxia - hypogonadism

Very frequent
- Autosomal recessive inheritance
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Hydrocephaly
- Structural anomalies of the nervous system

Occasional
- 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
- Abnormal ERG / electroretinogram / electroretinography
- Ataxia / incoordination / trouble of the equilibrium
- Gynecomastia / breast / mammary gland enlargement / hyperplasia
- Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies
- Late puberty / hypogonadism / hypogenitalism
- Nystagmus
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Retinitis pigmentosa / retinal pigmentary changes
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Sterility / hypofertility

Frequent
- Hypotonia

Occasional
- Brachycephaly / flat occiput
- Clinodactyly of fifth finger
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline
- Short stature / dwarfism / nanism
- Supernumerary nipples / polythelia