ODCs

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Cerebellar ataxia - hypogonadism

2 OMIM references -
3 associated genes
18 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4

Von Hippel-Lindau disease

1 OMIM reference -
1 associated gene
43 signs/symptoms

Cerebellar ataxia - hypogonadism

Von Hippel-Lindau disease

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


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	STUB1	(0.63)	VHL

Citations in the biomedical literature:

Cerebellar ataxia - hypogonadism		Von Hippel-Lindau disease
	Synonym(s): - Luteinizing hormone-releasing hormone deficiency with ataxia		Synonym(s): - Familial cerebelloretinal angiomatosis - Hippel-Lindau disease - Lindau disease - VHL - Von Hippel-Lindau syndrome

	Classification (Orphanet): - Rare endocrine disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare infertility - Rare neurologic disease		Classification (Orphanet): - Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare oncologic disease - Rare renal 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: 1-9 / 100 000 Average age onset: adulthood Average age of death: elderly Type of inheritance: autosomal dominant

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D006623


COMMON SIGNS	- Ataxia / incoordination / trouble of the equilibrium - Hemiplegia / diplegia / hemiparesia / limb palsy - Nystagmus - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Cerebellar ataxia - hypogonadism		Von Hippel-Lindau disease
	Very frequent - Abnormal ERG / electroretinogram / electroretinography - Gynecomastia / breast / mammary gland enlargement / hyperplasia - Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies - Late puberty / hypogonadism / hypogenitalism - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Retinitis pigmentosa / retinal pigmentary changes - 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		Very frequent - Arteriovenous malformations / vascular malformations (excluding port-wine stains) - Autosomal dominant inheritance - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Cerebral vascular anomalies - Congenital pancreatic cyst - Kidney / renal neoplasm / tumor / carcinoma / cancer - Mild visual loss / impaired visual acuity - Retinal vascular anomalies / retinal telangiectasia - Sensorineural deafness / hearing loss - Vascular anomalies of skin / mucosae - Vascular malignancy / tumor - Visceral angiomatosis (excluding skin) Frequent - Abnormal gait - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Facial pain / cephalalgia / migraine - Hydrocephaly - Motor deficit / trouble - Multicystic kidney / renal dysplasia - Nausea / vomiting / regurgitation / merycism / hyperemesis - Renal / kidney anomalies - Sensitive trouble / deficit - Telangiectasiae of the skin Occasional - Anomalies of the lymphatic system - Cardiac rhythm disorder / arrhythmia - Cataract / lens opacification - Chronic arterial hypertension - Cranial hypertension - Glaucoma - Hearing loss / hypoacusia / deafness - Hyperhidrosis / increased sweating - Middle ear neoplasm / tumor / carcinoma / cancer - Neoplasms / tumors - Neuroendocrine tumor / apudoma / carcinoid - Pheochromocytoma / paraganglioma - Polycystic kidneys - Retinal detachment - Spermatocele / epididymal / funicular / spermatic / vaginal / albugineal cyst - Structural anomalies of the pancreas - Visual loss / blindness / amblyopia