Kennedy disease |
Von Hippel-Lindau disease |
AR | VHL |
INTERACTOME ASSOCIATIONS (click on a score value to see the evidence) |
AR | (0.78) | VHL | |
Citations in the biomedical literature:
Kennedy disease |
Von Hippel-Lindau disease |
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Synonym(s): - Bulbospinal muscular atrophy- SBMA - Spinal and bulbar muscular atrophy - Spinobulbar muscular atrophy - X-linked bulbospinal amyotrophy | Synonym(s): - Familial cerebelloretinal angiomatosis- Hippel-Lindau disease - Lindau disease - VHL - Von Hippel-Lindau syndrome | ||
Classification (Orphanet): - Rare genetic 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 -
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Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: adulthood Average age of death: normal Type of inheritance: x-linked 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: 1 OMIM reference -
No MeSH references | External references: 1 OMIM reference - 1 MeSH reference: D006623 | ||
COMMON SIGNS |
- Abnormal gait - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia |
Kennedy disease |
Von Hippel-Lindau disease |
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Very frequent - Areflexia / hyporeflexia - Gynecomastia / breast / mammary gland enlargement / hyperplasia - Hypotonia - 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 | 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 - Nystagmus - Retinal vascular anomalies / retinal telangiectasia - Sensorineural deafness / hearing loss - Vascular anomalies of skin / mucosae - Vascular malignancy / tumor - Visceral angiomatosis (excluding skin) Frequent - Ataxia / incoordination / trouble of the equilibrium - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Facial pain / cephalalgia / migraine - Hemiplegia / diplegia / hemiparesia / limb palsy - 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 |