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Von Hippel-Lindau disease
1 OMIM reference -
1 associated gene
134 connected diseases
43 signs/symptoms
Disease Type of connection
Chuvash erythrocytosis
Amyotrophic lateral sclerosis
Blackfan-Diamond anemia
Precursor T-cell acute lymphoblastic leukemia
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 3
Young adult-onset Parkinsonism
Autosomal dominant secondary polycythemia
Familial pancreatic carcinoma
Precursor B-cell acute lymphoblastic leukemia
B-cell chronic lymphocytic leukemia
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Familial porencephaly
Li-Fraumeni syndrome
Essential thrombocythemia
Behavioral variant of frontotemporal dementia
Osteogenesis imperfecta type 4
Progressive non-fluent aphasia
Semantic dementia
X-linked diffuse leiomyomatosis - Alport syndrome
Multiple paragangliomas associated with polycythemia
Sporadic pheochromocytoma
Sporadic secreting paraganglioma
Fibronectin glomerulopathy
Familial melanoma
Melanoma and neural system tumor syndrome
Melanoma-pancreatic cancer syndrome
Ataxia-telangiectasia variant
Combined cervical dystonia
Mantle cell lymphoma
Systemic-onset juvenile idiopathic arthritis
Adrenocortical carcinoma
Baraitser-Winter syndrome
Complete androgen insensitivity syndrome
Developmental malformations - deafness - dystonia
Familial hypospadias
Giant cell glioblastoma
Kennedy disease
Papilloma of choroid plexus
Partial androgen insensitivity syndrome
Adenine phosphoribosyltransferase deficiency
Brachyolmia type 1, Toledo type
Spinocerebellar ataxia type 2
Spondyloepimetaphyseal dysplasia, Pakistani type
Unverricht-Lundborg disease
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Autoimmune lymphoproliferative syndrome
Autosomal dominant Alport syndrome
Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures
Autosomal recessive Alport syndrome
Autosomal recessive systemic lupus erythematosus
Chronic intestinal pseudoobstruction
Common variable immunodeficiency
Congenital short bowel syndrome
Congenital valvular dysplasia
Ehlers-Danlos syndrome with periventricular heterotopia
Familial vascular leukoencephalopathy
Frontometaphyseal dysplasia
Hereditary sensory and autonomic neuropathy with spastic paraplegia
Lissencephaly due to TUBA1A mutation
Osteodysplasty, Melnick-Needles type
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Periventricular nodular heterotopia
Terminal osseous dysplasia - pigmentary defects
Walker-Warburg syndrome
Chronic granulomatous disease
Noonan syndrome
Adult-onset proximal spinal muscular atrophy, autosomal dominant
Childhood absence epilepsy
Chronic mucocutaneous candidiasis
Encephalopathy due to GLUT1 deficiency
Epilepsy with myoclonic-astatic seizures
Hereditary cryohydrocytosis with reduced stomatin
Hypotrichosis simplex
Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
Paroxysmal exertion-induced dyskinesia
Familial prostate cancer
Familial renal cell carcinoma
Hereditary breast and ovarian cancer syndrome
2p21 microdeletion syndrome
Adult-onset autosomal recessive sideroblastic anemia
Amyotrophic lateral sclerosis-parkinsonism-dementia complex
Atypical hemolytic uremic syndrome with C3 anomaly
Autosomal dominant Charcot-Marie-Tooth disease type 2B
Autosomal recessive axonal neuropathy with neuromyotonia
Autosomal thrombocytopenia with normal platelets
Bethlem myopathy
Bruck syndrome
Budd-Chiari syndrome
Burkitt lymphoma
CLN11 disease
Catecholaminergic polymorphic ventricular tachycardia
Cerebellar ataxia - hypogonadism
Cerebro-facio-thoracic dysplasia
Combined deficiency of factor V and factor VIII
Combined oxidative phosphorylation defect type 2
Complement component 3 deficiency
Congenital muscular dystrophy, Ullrich type
Connective tissue disorder due to lysyl hydroxylase-3 deficiency
Distal hereditary motor neuropathy type 7
Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
Familial atrial fibrillation
Familial isolated congenital asplenia
Familial renal amyloidosis due to lysozyme variant
Familial thrombocytosis
Hypoxanthine guanine phosphoribosyltransferase partial deficiency
Lesch-Nyhan syndrome
MALT lymphoma
MMEP syndrome
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
Myelofibrosis with myeloid metaplasia
Partial chromosome Y deletion
Perry syndrome
Polycythemia vera
Retinitis pigmentosa
Spinocerebellar ataxia type 12
X-linked Alport syndrome
X-linked myopathy with excessive autophagy
X-linked nonsyndromic sensorineural deafness type DFN
X-linked osteoporosis with fractures
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
- Familial cerebelloretinal angiomatosis
- Hippel-Lindau disease
- Lindau disease
- Von Hippel-Lindau syndrome

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):
- Congenital malformations, deformations and chromosomal abnormalities -

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 -
1 MeSH reference: D006623

Gene symbol UniProt reference OMIM reference
VHL P40337608537
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)

- 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

- 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