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1 OMIM reference -
1 associated gene
43 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4
2 OMIM references -
3 associated genes
18 signs/symptoms
Von Hippel-Lindau disease
Cerebellar ataxia - hypogonadism

VHL PNPLA6
RNF216
STUB1


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Von Hippel-Lindau disease
VHL
Cerebellar ataxia - hypogonadism
PNPLA6 RNF216 STUB1



Von Hippel-Lindau disease
Cerebellar ataxia - hypogonadism

Synonym(s):
- Familial cerebelloretinal angiomatosis
- Hippel-Lindau disease
- Lindau disease
- VHL
- Von Hippel-Lindau syndrome

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

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adulthood
Average age of death: elderly
Type of inheritance: autosomal dominant
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: D006623
External references:
2 OMIM references -
No MeSH references


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


Von Hippel-Lindau disease
Cerebellar ataxia - hypogonadism

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


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