ODCs

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Von Hippel-Lindau disease

1 OMIM reference -
1 associated gene
43 signs/symptoms

PROTEIN INTERACTIONS: 2
COMMON SIGNS: 1

Essential thrombocythemia

3 OMIM references -
5 associated genes
17 signs/symptoms

Von Hippel-Lindau disease

Essential thrombocythemia

VHL	(UniProt - OMIM)	CALR	(UniProt - OMIM)
		JAK2	(UniProt - OMIM)
		MPL	(UniProt - OMIM)
		TET2	(UniProt - OMIM)
		TP53	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	VHL VHL	(0.78) (0.63)	TP53 JAK2

Citations in the biomedical literature:

Von Hippel-Lindau disease		Essential thrombocythemia
	Synonym(s): - Familial cerebelloretinal angiomatosis - Hippel-Lindau disease - Lindau disease - VHL - Von Hippel-Lindau syndrome		Synonym(s): - ET - Essential thrombocytosis

	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 hematologic disease - Rare oncologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Neoplasms -

	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: 1-5 / 10 000 Average age onset: adulthood Average age of death: normal Type of inheritance: sporadic

	External references: 1 OMIM reference - 1 MeSH reference: D006623		External references: 3 OMIM references - 1 MeSH reference: D013920


COMMON SIGNS	- Cerebral vascular anomalies

Von Hippel-Lindau disease		Essential thrombocythemia
	Very frequent - Arteriovenous malformations / vascular malformations (excluding port-wine stains) - Autosomal dominant inheritance - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - 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		Very frequent - Acute ischemic syndrome - Angor pectoris / myocardial infarction - Arterial embolism / thrombosis - Bone marrow anomalies - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness - Platelet disorders / thrombopathies - Platelets shape anomalies - Thoracic / chest pain - Transient amaurosis / acute visual trouble - Transient cerebral ischemia / stroke - Venous thrombosis / phlebitis / thrombophlebitis Frequent - Splenomegaly Occasional - Acute leukemia - Myelodysplastic syndrome - Myeloproliferative syndrome / chronic leukemia