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Cerebellar ataxia - hypogonadism
2 OMIM references -
3 associated genes
18 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4
Bannayan-Riley-Ruvalcaba syndrome
1 OMIM reference -
1 associated gene
55 signs/symptoms
Cerebellar ataxia - hypogonadism
Bannayan-Riley-Ruvalcaba syndrome

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

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
STUB1
(0.68)
PTEN


Citations in the biomedical literature:


Cerebellar ataxia - hypogonadism
PNPLA6 RNF216 STUB1
Bannayan-Riley-Ruvalcaba syndrome
PTEN



Cerebellar ataxia - hypogonadism
Bannayan-Riley-Ruvalcaba syndrome

Synonym(s):
- Luteinizing hormone-releasing hormone deficiency with ataxia
Synonym(s):
- BRRS
- Myhre-Riley-Smith syndrome
- Syndrome de Myhre-Rikey-Smith
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare gastroenterologic disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare skin disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Hypotonia
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Short stature / dwarfism / nanism
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Cerebellar ataxia - hypogonadism
Bannayan-Riley-Ruvalcaba syndrome

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
- Retinitis pigmentosa / retinal pigmentary changes
- Sterility / hypofertility

Frequent
- Hemiplegia / diplegia / hemiparesia / limb palsy

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


Very frequent
- Arteriovenous malformations / vascular malformations (excluding port-wine stains)
- Autosomal dominant inheritance
- Breast neoplasm / tumor / carcinoma / cancer
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Hamartoma / tumefaction of the tongue / gingivae / oral mucosa
- Irregular / in bands / reticular skin hyperpigmentation
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Polyposis of the bowel / colon / intestine
- Visceral angiomatosis (excluding skin)
- Xanthomas / lipomas

Frequent
- Mucosal / cutaneous hemorrhage
- Pectus excavatum
- Scoliosis
- Subcutaneous nodules / lipomas / tumefaction / swelling

Occasional
- Absent / hypotonic / flaccid abdominal wall muscles
- Angor pectoris / myocardial infarction
- Anteverted nares / nostrils
- Aortic dilatation / dilation
- Broad nose / nasal bridge
- Broad / bifid thumb
- Cafe-au-lait spot
- Cortical adrenal neoplasm / tumor / carcinoma / cancer
- Cutis marmorata / marbled skin / livedo
- Delayed bone age
- Dolichocephaly / scaphocephaly
- Early death / lethality
- Frontal bossing / prominent forehead
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- High vaulted / narrow palate
- Hypoglycemia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intracranial / cerebral / meningeal hemorrhage
- Long philtrum
- Long / large ear
- Lymphedema
- Lymphoma
- Meningioma
- Micrognathia / retrognathia / micrognathism / retrognathism
- Motor deficit / trouble
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Muscle weakness / flaccidity
- Myopathy
- Neoplasms / tumors
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short / small nose
- Tall stature / gigantism / growth acceleration
- Telangiectasiae of the skin
- Thyroid neoplasm / tumor / carcinoma / cancer
- Thyroiditis
- Uterus / uterine / cervix / endometrium neoplasm / tumor / carcinoma / cancer
- Wasted (excluding lipodystrophy) / poorly muscled build / cachexy