Von Hippel–Lindau disease

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Explore the main themes, entities and connections around Von Hippel–Lindau disease. Start with the topic map, then use the sections below for research and deeper semantic analysis.

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Pathogenesis

Chromosome 3 Germline mutations Somatic mutations Deletion mutations Nonsense mutations

20 related topics

Signs and symptoms

Central nervous system Retina Pancreas Kidney Adrenal gland

15 related topics

History

Eugen von Hippel Arvid Lindau Cerebellum Spine

4 related topics

Treatment

Photocoagulation Cryotherapy Nephrectomy Radiofrequency ablation Belzutifan

5 related topics

Key facts & relationships

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Frequency: 0.0021322%
Other names: Familial cerebello retinal angiomatosis
Specialty: Medical genetics, neurology

Topics to explore

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Overview

Signs and symptoms

Pathogenesis

Chromosome 3 Chromosome 3 (human)
Germline mutations Germline mutation
Somatic mutations Somatic mutation
Deletion mutations Deletion mutation
Nonsense mutations Nonsense mutation
Indel mutations Indel
Splice site mutations Splice site mutation
Hypoxia inducible factor 1α HIF1A
Heterodimeric
Transcription factor
Cellular oxygen Cellular respiration
Post translational Post translational modification
Hydroxylation
Proline
E3 ligase
Ubiquitinates Ubiquitin
Proteasome
Vascular endothelial growth factor
Platelet-derived growth factor B PDGFRB
Erythropoietin

Diagnosis

Treatment

Epidemiology

Penetrance

History

Notable cases

Hatfield–McCoy feud

Advanced semantic analysis

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Map overview Semantic statistics

Nodes66

Edges65

Triples50

Avg. degree1.97

Density0.030303

Components1

How this topic connects Entity context

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Von Hippel–Lindau disease

Top relations

related to Notable cases · 14

Von Hippel–Lindau disease → An, Associated Press, Hatfield, In, Kentucky, Lindau, McCoy, Some, The, US, Vanderbilt University, VHL, Von Hippel, West Virginia

has treatment · 11

Von Hippel–Lindau disease → Belzutifan, CNS, Early, For, Hippel, Lindau, Merck, Photocoagulation, Renal, VHL, Welireg

related to External links · 11

Von Hippel–Lindau disease → GeneReviews/NCBI/NIH/UW, Lindau, Lindau Disease, Man, NINDSVon Hippel, NLM Genetics Home ReferenceHippel, OMIM, Online Mendelian Inheritance, VHL, Von Hippel-Lindau SyndromeVon Hippel, Whonamedit

related to history · 7

Von Hippel–Lindau disease → Arvid Lindau, Eugen, Hippel, Lindau, The, The German, Von Hippel

Frequency · 1

Von Hippel–Lindau disease → 0.0021322%

Other names · 1

Von Hippel–Lindau disease → Familial cerebello retinal angiomatosis

Specialty · 1

Von Hippel–Lindau disease → Medical genetics, neurology

Important terminology Word statistics

Use these terms to understand the vocabulary surrounding the topic, not as a checklist for keyword stuffing.

Important terminology

vhl disease von hippel lindau hemangioblastomas gene family retinal tumors renal mutations angiomas tumor diagnosis history cases also pheochromocytoma cell

Entity relationships Subject–Predicate–Object triples

Subject	Predicate	Object	Confidence	Src
Von Hippel–Lindau disease	Frequency	0.0021322%	1.00	infobox
Von Hippel–Lindau disease	Other names	Familial cerebello retinal angiomatosis	1.00	infobox
Von Hippel–Lindau disease	Specialty	Medical genetics, neurology	1.00	infobox
the Southern blot	instance of	techniques	0.80	text
gene sequencing can be used to analyse DNA	instance of	techniques	0.80	text
identify mutations	instance of	techniques	0.80	text
renal cell carcinoma	instance of	The second criterion applies to patients without a family history of VHL disease who present with hemangioblastomas or retinal angiomas in conjunction with other tumors	0.80	text
Von Hippel–Lindau disease	has treatment	Early	0.60	section
Von Hippel–Lindau disease	has treatment	VHL	0.60	section
Von Hippel–Lindau disease	has treatment	For	0.60	section
Von Hippel–Lindau disease	has treatment	CNS	0.60	section
Von Hippel–Lindau disease	has treatment	Photocoagulation	0.60	section

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Connections between topic areas Semantic bridges

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