ODCs

Click node...

X-linked nonsyndromic sensorineural deafness type DFN

4 OMIM references -
3 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Von Hippel-Lindau disease

1 OMIM reference -
1 associated gene
43 signs/symptoms

X-linked nonsyndromic sensorineural deafness type DFN

Von Hippel-Lindau disease

COL4A6	(UniProt - OMIM)	VHL	(UniProt - OMIM)
PRPS1	(UniProt - OMIM)
SMPX	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL4A6	(0.63)	VHL

Citations in the biomedical literature:

X-linked nonsyndromic sensorineural deafness type DFN		Von Hippel-Lindau disease
	Synonym(s): - X-linked isolated neurosensory deafness type DFN - X-linked isolated neurosensory hearing loss type DFN - X-linked isolated sensorineural deafness type DFN - X-linked isolated sensorineural hearing loss type DFN - X-linked nonsyndromic neurosensory deafness type DFN - X-linked nonsyndromic neurosensory hearing loss type DFN - X-linked nonsyndromic sensorineural hearing loss type DFN		Synonym(s): - Familial cerebelloretinal angiomatosis - Hippel-Lindau disease - Lindau disease - VHL - Von Hippel-Lindau syndrome

	Classification (Orphanet): - Rare genetic disease - Rare otorhinolaryngologic 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 ear and mastoid process -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: - 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: 4 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D006623

Von Hippel-Lindau disease
	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 - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Vascular anomalies of skin / mucosae - Vascular malignancy / tumor - Visceral angiomatosis (excluding skin) Frequent - Abnormal gait - 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
X-linked nonsyndromic sensorineural deafness type DFN
(no data available)