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Cerebellar ataxia - hypogonadism
2 OMIM references -
3 associated genes
18 signs/symptoms
PROTEIN INTERACTIONS: 1
Primary peritoneal carcinoma
1 associated gene
9 signs/symptoms
Cerebellar ataxia - hypogonadism
Primary peritoneal carcinoma

PNPLA6
(UniProt - OMIM)
 BRCA1
(UniProt - OMIM)
RNF216
(UniProt - OMIM)
STUB1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
RNF216
(0.63)
BRCA1


Citations in the biomedical literature:


Cerebellar ataxia - hypogonadism
PNPLA6 RNF216 STUB1
Primary peritoneal carcinoma
BRCA1



Cerebellar ataxia - hypogonadism
Primary peritoneal carcinoma

Synonym(s):
- Luteinizing hormone-releasing hormone deficiency with ataxia
Synonym(s):
- EOPPC
- Extra-ovarian primary peritoneal carcinoma
- PPC
- Primary peritoneal serous carcinoma
- Serous surface papillary carcinoma
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
- Rare neurologic disease
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare oncologic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: normal
Type of inheritance: unknown
External references:
2 OMIM references -
No MeSH references
External references:
No OMIM references
No MeSH references
Cerebellar ataxia - hypogonadism
Primary peritoneal carcinoma

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
- Hemiplegia / diplegia / hemiparesia / limb palsy
- 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


Very frequent
- Acute abdominal pain / colic
- Anomalies of the abdominal wall
- Constipation
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Neoplasms / tumors
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Peritoneal diseases
- Weight loss / loss of appetite / break in weight curve / general health alteration

Occasional
- Early death / lethality