VHL
MCID: VNH001
MIFTS: 89

Von Hippel-Lindau Disease (VHL) malady

Neuronal diseases, Eye diseases, Cardiovascular diseases, Nephrological diseases, Endocrine diseases, Fetal diseases, Cancer diseases, Genetic diseases categories

Summaries for Von Hippel-Lindau Disease

About this section
Sources:
42NIH Rare Diseases, 33MedlinePlus, 43NINDS, 21Genetics Home Reference, 46OMIM, 19GeneReviews, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NINDS:43 Von Hippel-Lindau disease (VHL) is a rare, genetic multi-system disorder characterized by the abnormal growth of tumors in certain parts of the body. The tumors of the central nervous system (CNS) are benign and are comprised of a nest of blood vessels and are called hemangioblastomas. Hemangioblastomas may develop in the brain, the retina of the eyes, and other areas of the nervous system. Other types of tumors develop in the adrenal glands, the kidneys, or the pancreas. Symptoms of VHL vary among patients and depend on the size and location of the tumors. Symptoms may include headaches, problems with balance and walking, dizziness, weakness of the limbs, vision problems, and high blood pressure. Cysts (fluid-filled sacs) and/or tumors (benign or cancerous) may develop around the hemangioblastomas and cause the symptoms listed above. Individuals with VHL are also at a higher risk than normal for certain types of cancer, especially kidney cancer.

MalaCards: Von Hippel-Lindau Disease, also known as von hippel-lindau syndrome, is related to hemangioblastoma and pheochromocytoma, and has symptoms including chronic arterial hypertension, anomalies of the lymphatic system and polycystic kidneys. An important gene associated with Von Hippel-Lindau Disease is VHL (von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase), and among its related pathways are Glioma and Pyruvate metabolism. The compounds UBIQUINONE-1 and 2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol have been mentioned in the context of this disorder. Affiliated tissues include kidney, retina and brain, and related mouse phenotypes are endocrine/exocrine gland and limbs/digits/tail.

NIH Rare Diseases:42 Von hippel-lindau (vhl) disease is a genetic multi-system disorder characterized by the abnormal growth of tumors in certain parts of the body (angiomatosis). the specific tumors that are associated with vhl disease include hemangioblastomas (tumors comprised of a nest of blood vessels) of the brain, spinal cord, and retina; kidney cysts and clear cell kidney cell carcinoma; pheochromocytoma (a type of noncancerous tumor that affects the adrenal glands, which are the small hormone-producing glands located on top of each kidney); and endolymphatic sac tumors (a type of tumor of the inner ear area called the endolymphatic sac). mutations in the vhl gene cause vhl disease. these mutations are  inherited in an autosomal dominant pattern. detecting and treating vhl early is important. treatment usually involves surgery or sometimes radiation therapy. the goal is to treat growths while they are small and before they do permanent damage. last updated: 5/20/2013

MedlinePlus:33 Von hippel-lindau disease (vhl) is a rare, genetic disease that causes tumors and cysts to grow in your body. the tumors can be either cancerous or benign. they can grow in your brain and spinal cord, kidneys, pancreas and, in men, their genital tract. symptoms of vhl vary and depend on the size and location of the tumors. they may include headaches, problems with balance and walking, dizziness, weakness of the limbs, vision problems and high blood pressure. detecting and treating vhl early is important. treatment usually involves surgery or sometimes radiation therapy. the goal is to treat growths while they are small and before they do permanent damage. nih: national institute of neurological disorders and stroke

Genetics Home Reference:21 Von Hippel-Lindau syndrome is an inherited disorder characterized by the formation of tumors and fluid-filled sacs (cysts) in many different parts of the body. Tumors may be either noncancerous or cancerous and most frequently appear during young adulthood; however, the signs and symptoms of von Hippel-Lindau syndrome can occur throughout life.

Description from OMIM:46 193300

GeneReviews summary for vhl

Aliases & Classifications for Von Hippel-Lindau Disease

About this section
Sources:
8Disease Ontology, 9diseasecard, 63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 43NINDS, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 33MedlinePlus, 60UMLS, 34MeSH, 56SNOMED-CT, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

48
von hippel-lindau syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Adulthood; Age of death: Elderly


Aliases & Descriptions:

von hippel-lindau disease 8 63 19 42 21 43 10 44 48 33
von hippel-lindau syndrome 8 9 19 42 20 22 21 46 48 60
vhl syndrome 63 19 42 21
hippel-lindau disease 63 21 48
cerebelloretinal angiomatosis, familial 63 21
angiomatosis retinae 19 21
vhl 42 48
familial cerebelloretinal angiomatosis 48
angiomatosis of retina 60
hippel lindau syndrome 8
lindau disease 48


External Ids:

Disease Ontology8 DOID:14175
MeSH34 D006623
OMIM46 193300
NCIt39 C3105
SNOMED-CT56 46659004
MESH via Orphanet35 D006623
ICD10 via Orphanet26 Q85.8
SNOMED-CT via Orphanet57 46659004
UMLS via Orphanet61 C0019562

Related Diseases for Von Hippel-Lindau Disease

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Von Hippel-Lindau Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 268)
idRelated DiseaseScoreTop Affiliating Genes
1hemangioblastoma31.9HIF1A, INHA, VEGFA, VHL
2pheochromocytoma31.6VHL, SDHD, SDHB, RET
3hemangioma31.3SDHB, VHL, MEN1, SDHC, RET, CUL2
4neuroendocrine tumor31.2SDHD, RET, NPY, MEN1, RASSF1
5cystadenoma31.1INHA, VHL
6renal clear cell carcinoma31.1VHL, MET, VEGFA, TCEB2, HIF1A, INHA
7phaeochromocytoma31.0NPY, SDHC, SDHB, SDHD, RET
8paraganglioma30.9SDHC, SDHB, SDHD, PNMT, RET, HIF1A
9adenoma30.9INHA, RASSF1, VHL, CCND1, MEN1, MET
10meningioma30.6INHA, MEN1
11tuberous sclerosis30.6VHL, PKD1, TSC2
12neurofibromatosis30.6SDHB, SDHC, SDHD, VHL, RET
13polycystic kidney disease30.6PKD1, TSC2, VHL
14angiomatosis30.6VHL
15polycythemia30.5HIF1A, VHL
16acute leukemia30.4TSC2
17leukemia30.4CCND1, MEN1
18pituitary adenoma30.4RET, INHA, MEN1
19peutz-jeghers syndrome30.4VHL, TSC2, INHA
20autosomal dominant disease30.4RET
21kidney cancer30.4TCEB2, VHL, MET, VEGFA, CUL2
22hyperparathyroidism30.4SDHD, SDHB, SDHC, RET, MEN1
23cushing's syndrome30.4NPY, INHA, MEN1, RET
24lung cancer30.4MET, RASSF1, VEGFA, CCND1
25astrocytoma30.4INHA, VHL, VEGFA, HIF1A, TSC2, RASSF1
26malignant glioma30.4MET, CCND1, HIF1A, VEGFA
27pancreatic cancer30.4MET, CCND1, MEN1, VEGFA, HIF1A, RET
28cystic kidney30.4PKD1, TSC2
29adenocarcinoma30.4CCND1, VEGFA, VHL, TSC2, MEN1, MET
30hereditary paraganglioma-pheochromocytoma syndromes30.1SDHC, SDHB, SDHD
31multiple endocrine neoplasia type 2a30.1SDHD, MEN1, RET, SDHB, SDHC, VHL
32multiple endocrine neoplasia30.1MEN1, SDHB, SDHD, SDHC, VHL, RET
33squamous cell carcinoma30.1MET, VHL, CCND1, VEGFA, HIF1A, INHA
34fibrosarcoma30.0HIF1A
35goiter30.0RET
36ganglioneuroma30.0RASSF1, RET, NPY
37retinoblastoma30.0VHL, CCND1, MEN1, RASSF1
38breast cancer30.0VEGFA, HIF1A, OXTR, CCND1, NPY, RASSF1
39prostate cancer30.0HIF1A, OXTR, VEGFA, PKD1, MET, NPY
40hypertension29.9NPY, PNMT
41wilms tumor29.9VHL, RASSF1, INHA
42leiomyomatosis29.9VHL, SDHB
43glomus tumor29.9SDHD, SDHB, VHL
44ischemia29.9HIF1A, VEGFA, SDHB
45thyroid medullary carcinoma29.9RET, VHL, MEN1
46endometrial carcinoma29.9CCND1, VEGFA, OXTR, HIF1A, INHA, RASSF1
47vascular cancer29.9VHL
48lung adenocarcinoma29.9HIF1A, VEGFA, MET, TSC2, RASSF1, CCND1
49hepatocellular carcinoma29.9MEN1, HIF1A, CCND1, RASSF1, MET, VEGFA
50colorectal cancer29.9CCND1, NPY, VEGFA, RASSF1, MEN1, MET

Graphical network of the top 20 diseases related to Von Hippel-Lindau Disease:



Diseases related to von hippel-lindau disease

Clinical Features for Von Hippel-Lindau Disease

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

193300

Clinical synopsis from OMIM:

193300

Symptoms:

48 (show all 43)
  • chronic arterial hypertension
  • anomalies of the lymphatic system
  • polycystic kidneys
  • spermatocele/epididymal/funicular/spermatic/vaginal/albugineal cyst
  • cranial hypertension
  • neoplasms/tumors
  • pheochromocytoma/paraganglioma
  • neuroendocrine tumor/apudoma/carcinoid
  • middle ear neoplasm/tumor/carcinoma/cancer
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • cardiac rhythm disorder/arrhythmia
  • structural anomalies of the pancreas
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • telangiectasiae of the skin
  • autosomal dominant inheritance
  • vascular malignancy/tumor
  • kidney/renal neoplasm/tumor/carcinoma/cancer
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • cerebral vascular anomalies
  • arteriovenous malformations/vascular malformations (excluding port-wine stains)
  • visceral angiomatosis (excluding skin)
  • congenital pancreatic cyst
  • vascular anomalies of skin/mucosae
  • sensorineural deafness/hearing loss
  • nystagmus
  • mild visual loss/impaired visual acuity
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • renal/kidney anomalies
  • hyperhidrosis/increased sweating
  • hearing loss/hypoacusia/deafness
  • visual loss/blindness/amblyopia
  • retinal detachment
  • cataract/lens opacification
  • glaucoma
  • sensitive trouble/deficit
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • ataxia/incoordination/trouble of the equilibrium
  • abnormal gait
  • motor deficit/trouble
  • facial pain/cephalalgia/migraine
  • hydrocephaly
  • multicystic kidney/renal dysplasia
  • retinal vascular anomalies/retinal telangiectasia

Drugs & Therapeutics for Von Hippel-Lindau Disease

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Von Hippel-Lindau Disease

Drug clinical trials:

Search ClinicalTrials for Von Hippel-Lindau Disease

Search NIH Clinical Center for Von Hippel-Lindau Disease

Search CenterWatch for Von Hippel-Lindau Disease

Genetic Tests for Von Hippel-Lindau Disease

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Von Hippel-Lindau Disease:

id Genetic test Affiliating Genes
1 Von Hippel-Lindau Disease20 VHL
2 Von Hippel-Lindau Syndrome22
3 Von Hippel-Lindau22

Anatomical Context for Von Hippel-Lindau Disease

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Von Hippel-Lindau Disease:

32
Kidney, Retina, Brain, Pancreas, Spinal cord, Adrenal gland, Eye, Skin, Cerebellum, Endothelial, Testes, Bone, Pituitary, Lung, Liver, Pineal, Adrenal cortex, Pancreatic islet, Cortex, Myeloid, Skeletal muscle, Colon

Animal Models for Von Hippel-Lindau Disease or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Von Hippel-Lindau Disease:

36 (show all 22)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537910.5MEN1, OXTR, RET, INHA, CCND1
2MP:000537110.5PKD1
3MP:000363110.4NPY, SDHD, RET, OXTR, PKD1
4MP:000537610.3SDHD, TSC2, PNMT, RET, PKD1, MEN1
5MP:000536910.3RET, VHL, MEN1, HIF1A, MET, OXTR
6MP:000536710.2TSC2, VHL, NPY, MET, PKD1, VEGFA
7MP:000537010.2MET, TSC2, HIF1A, VHL, NPY, MEN1
8MP:000538210.2HIF1A, VEGFA, PKD1, MET, MEN1, CCND1
9MP:000538910.2TSC2, VHL, CCND1, MEN1, VEGFA, RET
10MP:000538010.2RET, HIF1A, VEGFA, PKD1, MET, VHL
11MP:000538110.2VHL, PKD1, VEGFA, HIF1A, RET, INHA
12MP:000200610.1MET, VEGFA, HIF1A, RET, INHA, RASSF1
13MP:000538510.0VEGFA, SDHD, MEN1, MET, PKD1, HIF1A
14MP:000537810.0NPY, OXTR, CCND1, MEN1, MET, PKD1
15MP:000539710.0TSC2, RET, HIF1A, VEGFA, PKD1, CCND1
16MP:000538710.0VEGFA, RASSF1, VHL, CCND1, MEN1, PKD1
17MP:000538410.0CCND1, SDHD, TSC2, VHL, MEN1, MET
18MP:001076810.0CCND1, SDHC, SDHD, MEN1, MET, PKD1
19MP:000287310.0HIF1A, INHA, RASSF1, RET, SDHD, TSC2
20MP:000539010.0CCND1, NPY, INHA, PKD1, VEGFA, HIF1A
21MP:00053869.9OXTR, RET, TSC2, SDHD, VEGFA, MET
22MP:00107719.8OXTR, VEGFA, HIF1A, PKD1, TSC2, CCND1

Publications for Von Hippel-Lindau Disease

About this section
Sources:
50PubMed
See all sources

Articles related to Von Hippel-Lindau Disease:

(show top 50)    (show all 560)
idTitleAuthorsYear
1
A novel missense mutation (N78D) in a family with von Hippel-Lindau disease with central nervous system haemangioblastomas, pancreatic and renal cysts. (23224817)
2013
2
Longitudinal analysis of retinal hemangioblastomatosis and visual function in ocular von Hippel-Lindau disease. (22906772)
2012
3
Intravitreal bevacizumab (avastin) combined with vitrectomy for recurrences of proliferative vitreoretinopathy in Von Hippel-Lindau disease. (21649868)
2012
4
Family history of von Hippel-Lindau disease was uncommon in Chinese patients: suggesting the higher frequency of de novo mutations in VHL gene in these patients. (22357542)
2012
5
Active surveillance of renal masses in von Hippel-Lindau disease: growth rates and clinical outcome over a median follow-up period of 56 months. (22203439)
2012
6
Germline mutations of the VHL gene in seven Chinese families with von Hippel-Lindau disease. (21972040)
2012
7
Imaging findings of pancreatic cystic lesions in von Hippel-Lindau disease. (22687833)
2012
8
Von Hippel-Lindau disease (VHL): a need for a murine model with retinal hemangioblastoma. (22763871)
2012
9
Von Hippel-Lindau disease and pregnancy. (22937936)
2012
10
Pregnancy-related hemangioblastoma progression and complications in von Hippel-Lindau disease. (22875085)
2012
11
Two pediatric patients with Von Hippel-Lindau disease type 2b: from patient to screening, from screening to patient. (21528828)
2011
12
Bilateral papillary cystadenoma of the mesosalpinx: a rare manifestation of Von Hippel-Lindau disease. (20157715)
2010
13
Genotype-phenotype correlation in ocular von Hippel-Lindau (VHL) disease: the effect of missense mutation position on ocular VHL phenotype. (20375333)
2010
14
Natural history of supratentorial hemangioblastomas in von Hippel-Lindau disease. (20647972)
2010
15
Endolymphatic sac tumor with von Hippel-Lindau disease: report of a case with analysis of von Hippel-Lindau gene and review. (20850701)
2010
16
VHL mutations linked to type 2C von Hippel-Lindau disease cause extensive structural perturbations in pVHL. (19228690)
2009
17
Germline VHL gene mutations in Hungarian families with von Hippel-Lindau disease and patients with apparently sporadic unilateral pheochromocytomas. (19574279)
2009
18
Late recurrence after surgical resection of a pancreatic tumor in von Hippel-Lindau disease. (19734639)
2009
19
A case report of the management of multiple metachronous haemangioblastomas in a patient with von Hippel - Lindau disease. (18224530)
2008
20
Surgical management of cerebellar hemangioblastomas in patients with von Hippel-Lindau disease. (18240914)
2008
21
von Hippel-Lindau disease: epididymal cystadenoma targeted by metastatic events. (17572225)
2007
22
Clinical challenges and images in GI. Fasciola hepatica infection and Von Hippel-Lindau disease type 1 with pancreatic and renal involvement. (17241855)
2007
23
Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification. (17661816)
2007
24
Hemangioblastomatosis in a patient with von Hippel-Lindau disease. (17256106)
2007
25
Neuroendocrine tumor of the pancreas and bilateral adrenal pheochromocytomas. A rare manifestation of von Hippel-Lindau disease in childhood. (17618900)
2007
26
Germline VHL gene mutations in three Serbian families with von Hippel-Lindau disease. (17688370)
2007
27
Local recurrence after nephron-sparing surgery in von Hippel-Lindau disease. (17905091)
2007
28
Microadenomatosis of the pancreas in von Hippel-Lindau disease. (17122523)
2006
29
Long-term natural history of hemangioblastomas in patients with von Hippel-Lindau disease: implications for treatment. (17219830)
2006
30
Hemangioblastoma of hippocampus without von Hippel-Lindau disease: case report and review of literature. (16679654)
2006
31
Clinical findings of the phakomatoses: von Hippel-Lindau disease. (16682653)
2006
32
Von hippel-lindau disease. (20223044)
2005
33
Pancreatic endocrine pathology in von Hippel-Lindau disease: an expanding spectrum of lesions. (15299200)
2004
34
Von Hippel-Lindau disease: a radiological essay. (14567317)
2003
35
Surgical management of brainstem hemangioblastomas in patients with von Hippel-Lindau disease. (12546357)
2003
36
Spectrum of abdominal imaging findings in von Hippel-Lindau disease. (14500227)
2003
37
Diagnosis of pheochromocytoma and laparoscopic adrenalectomy in two anephric patients with von Hippel-Lindau disease. (11840397)
2002
38
Total exudative detachment as a first presentation of von Hippel Lindau disease. (12034696)
2002
39
Von Hippel-Lindau disease: a radiological essay. (12169278)
2002
40
Suprasellar hemangioblastoma in a patient with von Hippel-Lindau disease confirmed by germline mutation study: case report and review of the literature. (11546565)
2001
41
Von Hippel-Lindau disease: gene to bedside. (11723376)
2001
42
Phaeochromocytoma associated with a de novo VHL mutation as form fruste of von Hippel-Lindau disease. (11475579)
2001
43
Attitudes of von Hippel-Lindau disease patients towards presymptomatic genetic diagnosis in children and prenatal diagnosis. (10928862)
2000
44
Von Hippel-Lindau disease with multiple malignant renal tumors: the importance of genetic testing. (10749302)
2000
45
Central nervous system complications of von Hippel-Lindau disease and pregnancy; perinatal considerations: case report and literature review. (11048837)
2000
46
Epidural anesthesia for cesarean section in a patient with von Hippel-Lindau disease and multiple sclerosis. (10320174)
1999
47
Epididymal cystadenomas in von Hippel-Lindau disease. (9187702)
1997
48
von Hippel-Lindau disease gene alterations associated with endolymphatic sac tumor. (9214679)
1997
49
Von Hippel-Lindau disease: an important differential diagnosis of polycystic kidney disease. (9198040)
1997
50
Identification of the von Hippel-Lindau disease tumor suppressor gene. (8493574)
1993

Genetic Variations for Von Hippel-Lindau Disease

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Von Hippel-Lindau Disease:

62 (show all 104)
id Symbol AA change Variation ID SNP ID
1VHLp.Ser38ProVAR_005670
2VHLp.Glu52LysVAR_005671
3VHLp.Ser65LeuVAR_005672
4VHLp.Ser65TrpVAR_005673
5VHLp.Ser68TrpVAR_005675
6VHLp.Glu70LysVAR_005676
7VHLp.Val74GlyVAR_005677rs5030803
8VHLp.Phe76IleVAR_005679
9VHLp.Phe76LeuVAR_005680
10VHLp.Phe76SerVAR_005681
11VHLp.Asn78HisVAR_005682
12VHLp.Asn78SerVAR_005683rs5030804
13VHLp.Asn78ThrVAR_005684
14VHLp.Arg79ProVAR_005685
15VHLp.Ser80IleVAR_005686
16VHLp.Ser80ArgVAR_005687
17VHLp.Ser80AsnVAR_005688rs5030805
18VHLp.Pro81SerVAR_005689rs5030806
19VHLp.Arg82ProVAR_005690
20VHLp.Val84LeuVAR_005692rs5030827
21VHLp.Pro86AlaVAR_005693
22VHLp.Pro86LeuVAR_005694
23VHLp.Pro86ArgVAR_005695
24VHLp.Pro86SerVAR_005696
25VHLp.Trp88ArgVAR_005697
26VHLp.Trp88SerVAR_005698
27VHLp.Leu89ProVAR_005700rs5030807
28VHLp.Gly93CysVAR_005703rs5030808
29VHLp.Gly93AspVAR_005704
30VHLp.Gly93SerVAR_005705rs5030808
31VHLp.Gln96ProVAR_005706
32VHLp.Tyr98HisVAR_005707rs5030809
33VHLp.Leu101GlyVAR_005708
34VHLp.Leu101ArgVAR_005709
35VHLp.Thr105ProVAR_005711
36VHLp.Arg107ProVAR_005713
37VHLp.Ser111CysVAR_005714
38VHLp.Ser111AsnVAR_005715
39VHLp.Ser111ArgVAR_005716
40VHLp.Tyr112HisVAR_005717
41VHLp.Gly114CysVAR_005718
42VHLp.Gly114ArgVAR_005719
43VHLp.Gly114SerVAR_005720
44VHLp.His115TyrVAR_005722rs5030811
45VHLp.His115GlnVAR_005723
46VHLp.Leu116ValVAR_005724
47VHLp.Trp117CysVAR_005725
48VHLp.Leu118ProVAR_005726rs5030830
49VHLp.Leu118ArgVAR_005727
50VHLp.Phe119LeuVAR_005728
51VHLp.Phe119SerVAR_005729
52VHLp.Asp121GlyVAR_005730rs5030832
53VHLp.Leu128PheVAR_005731
54VHLp.Val130LeuVAR_005733
55VHLp.Asn131LysVAR_005734
56VHLp.Asn131ThrVAR_005735
57VHLp.Phe136SerVAR_005736
58VHLp.Phe136CysVAR_005737rs5030833
59VHLp.Asp143GluVAR_005738
60VHLp.Ala149ThrVAR_005740
61VHLp.Pro154LeuVAR_005741
62VHLp.Val155GlyVAR_005742
63VHLp.Tyr156CysVAR_005743
64VHLp.Tyr156AspVAR_005744
65VHLp.Thr157IleVAR_005746
66VHLp.Leu158ProVAR_005748
67VHLp.Leu158ValVAR_005749
68VHLp.Lys159GluVAR_005750
69VHLp.Arg161GlnVAR_005751
70VHLp.Arg161ProVAR_005752
71VHLp.Arg161GlyVAR_005753rs5030818
72VHLp.Cys162PheVAR_005754
73VHLp.Cys162ArgVAR_005755
74VHLp.Cys162TrpVAR_005756rs5030622
75VHLp.Cys162TyrVAR_005757
76VHLp.Gln164ArgVAR_005758
77VHLp.Val166PheVAR_005759
78VHLp.Arg167GlyVAR_005760
79VHLp.Arg167GlnVAR_005761rs5030821
80VHLp.Arg167TrpVAR_005762rs5030820
81VHLp.Val170AspVAR_005763
82VHLp.Val170PheVAR_005764
83VHLp.Val170GlyVAR_005765
84VHLp.Tyr175AspVAR_005766
85VHLp.Leu178ProVAR_005768
86VHLp.Leu178GlnVAR_005769rs5030822
87VHLp.Ile180ValVAR_005770
88VHLp.Leu184ArgVAR_005771
89VHLp.Leu184ProVAR_005772
90VHLp.Glu186LysVAR_005773
91VHLp.Leu188ProVAR_005775
92VHLp.Leu188GlnVAR_005776
93VHLp.Leu188ValVAR_005777rs5030824
94VHLp.Leu198ArgVAR_005778
95VHLp.Arg200TrpVAR_005779rs28940298
96VHLp.Pro86HisVAR_008097
97VHLp.His115ArgVAR_008098rs5030812
98VHLp.Phe136TyrVAR_008099
99VHLp.Gln145HisVAR_008100
100VHLp.Val155MetVAR_008101
101VHLp.Gln164HisVAR_008102
102VHLp.Val166AspVAR_008103
103VHLp.Arg176TrpVAR_008104
104VHLp.Tyr112AsnVAR_034992

Expression for genes affiliated with Von Hippel-Lindau Disease

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Von Hippel-Lindau Disease

Search GEO for disease gene expression data for Von Hippel-Lindau Disease.

Pathways for genes affiliated with Von Hippel-Lindau Disease

About this section
Sources:
29KEGG, 37NCBI BioSystems Database, 53Reactome, 12EMD Millipore, 51QIAGEN
See all sources

Pathways related to Von Hippel-Lindau Disease according to GeneCards/GeneDecks:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.4TSC2
2
Hide members
10.3SDHD, SDHB, SDHC
3
Hide members
10.3SDHC, SDHB, SDHD
4
Hide members
10.3SDHD, SDHB, SDHC
5
Hide members
10.3HIF1A, VEGFA, VHL
6
Development Ligand-dependent activation of the ESR1/AP-1 pathway
Hide members
10.3HIF1A, VEGFA, CCND1
710.3VHL, VEGFA, TCEB2
8
Hide members
10.3TSC2, MET, CCND1
910.2CCND1, MET, VEGFA, HIF1A
1010.2VHL, HIF1A, CUL2, TCEB2
1110.2TCEB2, CUL2, HIF1A, VHL
1210.2RASSF1, VEGFA, MET, CCND1
13
Translation Insulin regulation of translation
Hide members
10.2MET, VEGFA, HIF1A, TSC2
14
Hide members
10.2VHL, VEGFA, HIF1A, CUL2, TCEB2
1510.2TCEB2, CUL2, HIF1A, VEGFA, VHL
16
Hide members
10.1TCEB2, CUL2, HIF1A, VEGFA, MET, VHL
1710.1TCEB2, CUL2, RASSF1, RET, HIF1A, CCND1

Compounds for genes affiliated with Von Hippel-Lindau Disease

About this section
Sources:
11DrugBank, 44Novoseek, 28IUPHAR, 24HMDB, 49PharmGKB, 59Tocris Bioscience, 2BitterDB
See all sources

Compounds related to Von Hippel-Lindau Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 66)
idCompoundScoreTop Affiliating Genes
1UBIQUINONE-11110.8SDHD, SDHB, SDHC
22-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol1110.7SDHD, SDHB, SDHC
3cobalt chloride4410.7VHL, VEGFA, HIF1A
4succinic acid28 11 2412.7SDHD, SDHB, SDHC
5iron-sulfur4410.7SDHD, SDHB, SDHC
6ubiquinone4410.7SDHD, SDHB, SDHC
7fumarate44 1111.7VHL, HIF1A, SDHD, SDHB, SDHC
8sunitinib44 49 1112.7RET, HIF1A, VEGFA, VHL
9crcs4410.6CCND1, MET, HIF1A, RASSF1
103-(5-hydroxymethyl-2-furyl)-1-benzylindazole4410.6VEGFA, HIF1A
11sorafenib44 49 1112.6VHL, CCND1, VEGFA, RET
12nickel44 2411.6SDHB, CUL2, HIF1A
13geldanamycin44 49 59 1113.6VHL, CCND1, MET, VEGFA, HIF1A
14catecholamine4410.6NPY, RET, PNMT, SDHD, SDHB
15nicotine44 49 28 1113.6PNMT, HIF1A, NPY, CCND1, VHL
16succinate4410.6VHL, HIF1A, RET, SDHD, SDHB, SDHC
17ns 39844 5911.6CCND1, VEGFA, HIF1A
18dopamine44 28 11 2413.6NPY, OXTR, HIF1A, PNMT, SDHB
19agar4410.5CCND1, MET, HIF1A, RET, RASSF1
20Cabozantinib1110.5MET, RET
21glycogen44 2411.5SDHB, TSC2, MET, CCND1, VHL
22rapamycin4410.5VHL, CCND1, MET, PKD1, VEGFA, HIF1A
23wortmannin4410.5CCND1, MET, HIF1A, RET, TSC2
24steroid4410.5SDHC, TSC2, INHA, OXTR, CCND1
25ly2940024410.5VHL, CCND1, MET, VEGFA, HIF1A, RET
26folate4410.5RASSF1, NPY, CCND1, VHL
27oxygen44 2411.4VHL, MET, HIF1A, TSC2, SDHD, SDHB
28phosphoinositide4410.4TSC2, HIF1A, OXTR, MET, CCND1
29oligonucleotide4410.4VHL, CCND1, MET, OXTR, HIF1A, RET
30iron44 2411.4SDHC, SDHB, SDHD, HIF1A, VHL
31arginine4410.4NPY, MET, OXTR, HIF1A, RET, TSC2
32alpha-ketoglutarate4410.4SDHB, HIF1A, VHL
33threonine4410.4CCND1, MET, PKD1, HIF1A, RET, RASSF1
34paraffin4410.4CCND1, NPY, MET, VEGFA, HIF1A, RET
35phosphatidylinositol4410.4VHL, CCND1, MET, PKD1, OXTR, HIF1A
36genistein44 28 59 2 11 2415.4CCND1, MET, VEGFA, HIF1A, RET
37retinoic acid44 2411.4CCND1, NPY, MET, HIF1A, RET, RASSF1
38alanine4410.4NPY, MET, PKD1, OXTR, HIF1A, RET
39atp44 2811.4NPY, MET, PKD1, HIF1A, RET, TSC2
40glucose4410.4VHL, NPY, MET, HIF1A, TCEB2, TSC2
41testosterone44 59 11 2413.3CCND1, NPY, MET, PKD1, OXTR, HIF1A
42trastuzumab44 49 1112.3HIF1A, VEGFA, CCND1
43nitric oxide44 11 2412.3VHL, NPY, MET, OXTR, HIF1A, PNMT
44cisplatin44 49 59 1113.3CCND1, MET, VEGFA, HIF1A, RASSF1
45serine4410.3VHL, CCND1, MEN1, MET, PKD1, OXTR
46arginine vasotocin4410.2OXTR, NPY
47vegf4410.2SDHC, VHL, CCND1, MEN1, MET, VEGFA
48thymidine44 2411.2CCND1, MEN1, MET, OXTR, HIF1A
49tyrosine4410.1PKD1, MET, MEN1, NPY, CCND1, VHL
50flavopiridol44 1111.0CCND1, VEGFA, HIF1A

GO Terms for genes affiliated with Von Hippel-Lindau Disease

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Von Hippel-Lindau Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial respiratory chain complex IIGO:00574910.2SDHC, SDHB, SDHD
2nucleoplasmGO:00565410.1CCND1, MEN1, HIF1A, CUL2, TCEB2, VHL
3Cul2-RING ubiquitin ligase complexGO:03146210.0TCEB2, CUL2

Biological processes related to Von Hippel-Lindau Disease according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1tricarboxylic acid cycleGO:00609910.5SDHC, SDHB, SDHD
2positive regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:06141910.5HIF1A, VEGFA
3branching morphogenesis of an epithelial tubeGO:04875410.5MET, PKD1, VEGFA
4hemoglobin biosynthetic processGO:04254110.4INHA, HIF1A
5lactationGO:00759510.4HIF1A, OXTR, VEGFA, CCND1
6regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:06141810.4TCEB2, CUL2, HIF1A, VEGFA, VHL
7cellular response to hypoxiaGO:07145610.4VHL, VEGFA, HIF1A, CUL2, TCEB2
8mammary gland alveolus developmentGO:06074910.3VEGFA, CCND1
9cell cycle arrestGO:00705010.3MEN1, PKD1, INHA, RASSF1, CUL2, TSC2
10liver developmentGO:00188910.3CCND1, MET, PKD1
11respiratory electron transport chainGO:02290410.2SDHC, SDHB, SDHD
12dopaminergic neuron differentiationGO:07154210.1HIF1A, VEGFA

Molecular functions related to Von Hippel-Lindau Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ubiquinone bindingGO:04803910.4SDHB, SDHD
2protein bindingGO:0055159.2SDHB, VHL, CCND1, MEN1, MET, USP20

Products for genes affiliated with Von Hippel-Lindau Disease

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Von Hippel-Lindau Disease

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet