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Cerebellar ataxia - hypogonadism

2 OMIM references -
3 associated genes
18 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Kennedy disease

1 OMIM reference -
1 associated gene
12 signs/symptoms

Cerebellar ataxia - hypogonadism

Kennedy disease

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


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	STUB1	(0.86)	AR

Citations in the biomedical literature:

Cerebellar ataxia - hypogonadism		Kennedy disease
	Synonym(s): - Luteinizing hormone-releasing hormone deficiency with ataxia		Synonym(s): - Bulbospinal muscular atrophy - SBMA - Spinal and bulbar muscular atrophy - Spinobulbar muscular atrophy - X-linked bulbospinal amyotrophy

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

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

	Epidemiological data: Class of prevalence: unknown Average age onset: variable Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: adulthood Average age of death: normal Type of inheritance: x-linked recessive

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


COMMON SIGNS	- Gynecomastia / breast / mammary gland enlargement / hyperplasia - Hypotonia - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Cerebellar ataxia - hypogonadism		Kennedy disease
	Very frequent - Abnormal ERG / electroretinogram / electroretinography - Ataxia / incoordination / trouble of the equilibrium - 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 - 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 - Short stature / dwarfism / nanism - Supernumerary nipples / polythelia		Very frequent - Abnormal gait - Areflexia / hyporeflexia - Impotence / painful erection / priapism / erection troubles - Movement disorder - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - X-linked recessive inheritance Occasional - Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia - Insulin-independent / type 2 diabetes - Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia