VHL
MCID: VNH001
MIFTS: 80

Von Hippel-Lindau Disease (VHL) malady

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

Summaries for Von Hippel-Lindau Disease

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44NIH Rare Diseases, 35MedlinePlus, 45NINDS, 48OMIM, 20GeneReviews, 34MalaCards
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NINDS:45 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, acute arterial hypertension/hypertensive crisis and anomalies of the lymphatic system. 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 Regulation of Hypoxia-inducible Factor (HIF) by Oxygen and Renal cell carcinoma. The compounds cocl2 and cobalt chloride have been mentioned in the context of this disorder. Affiliated tissues include kidney, retina and brain, and related mouse phenotypes are embryogenesis and digestive/alimentary.

NIH Rare Diseases:44 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:35 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

Description from OMIM:48 193300

GeneReviews summary for vhl

Aliases & Classifications for Von Hippel-Lindau Disease

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9Disease Ontology, 10diseasecard, 66Wikipedia, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 45NINDS, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 35MedlinePlus, 63UMLS, 36MeSH, 59SNOMED-CT, 41NCIt, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
von hippel-lindau disease:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Adulthood; Age of death: Elderly


Aliases & Descriptions:

von hippel-lindau disease 9 66 20 44 22 45 11 46 50 35
von hippel-lindau syndrome 9 10 20 44 22 48 50 63
vhl syndrome 66 20 44 22
von hippel lindau disease 44 21 23
angiomatosis retinae 66 20 22
cerebelloretinal angiomatosis, familial 66 22
hippel-lindau disease 66 22
vhl 44 50
familial cerebelloretinal angiomatosis 50
von hippel–lindau disease 66
hippel lindau syndrome 9
angiomatosis of retina 63
lindau disease 50


External Ids:

Disease Ontology9 DOID:14175
MeSH36 D006623
NCIt41 C3105
OMIM48 193300
SNOMED-CT59 46659004
MESH via Orphanet37 D006623
ICD10 via Orphanet27 Q85.8
SNOMED-CT via Orphanet60 46659004
UMLS via Orphanet64 C0019562

Related Diseases for Von Hippel-Lindau Disease

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18GeneCards, 19GeneDecks
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Diseases related to Von Hippel-Lindau Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 160)
idRelated DiseaseScoreTop Affiliating Genes
1hemangioblastoma32.0INHA, HIF1A, VHL
2pheochromocytoma31.6VHL, RET, SDHD, SDHB
3cystadenoma31.3INHA, VHL
4neuroendocrine tumor31.3RET, SDHD
5hemangioma31.1SDHB, SDHD, SDHC, RET, VHL
6erythrocytosis31.0HIF1A, VHL
7adenoma31.0VHL, RET, INHA
8phaeochromocytoma30.9RET, SDHC, SDHD, SDHB
9multiple endocrine neoplasia30.9VHL, RET, SDHC, SDHD, SDHB, PNMT
10neurofibromatosis30.8SDHD, SDHB
11paraganglioma30.7VHL, RET, HIF1A, SDHC, SDHD, SDHB
12polycythemia30.6VHL, HIF1A
13renal clear cell carcinoma30.6VHL, HIF1A, INHA
14peutz-jeghers syndrome30.6INHA, VHL
15cushing's syndrome30.5RET, INHA
16astrocytoma30.5INHA, HIF1A, VHL
17neuroma30.4RET
18hyperparathyroidism30.4RET, SDHC, SDHD, SDHB
19kidney cancer30.2INHA, SDHB, SDHC, HIF1A, RET, VHL
20glomus tumor30.1SDHB, SDHD, VHL
21hereditary paraganglioma-pheochromocytoma syndromes30.0SDHB, SDHD, SDHC
22multiple endocrine neoplasia type 2a29.9SDHB, SDHD, SDHC, RET, VHL
23pancreatic cancer29.8RET, INHA
24pancreatitis11.2
25renal cell carcinoma11.1
26retinitis11.1
27endolymphatic sac tumor11.0
28angiomatosis10.9
29capillary hemangioma10.9
30retinal hemangioblastoma10.7
31endotheliitis10.7
32islet cell tumor10.6
33epididymitis10.6
34pheochromocytoma, modifier of10.6
35von hippel-lindau syndrome, modifier of10.5
36sporadic pheochromocytoma10.5
37macular holes10.5
38polycystic kidney disease10.5
39papillary adenoma10.5
40tuberous sclerosis10.5
41papillary renal cell carcinoma10.5
42somatostatinoma10.5
43cerebritis10.5
44cervicitis10.5
45hepatitis10.5
46kidney disease10.5
47meningioma10.5
48sturge-weber syndrome10.5
49weber syndrome10.5
50hypoxia10.5

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



Diseases related to von hippel-lindau disease

Symptoms for Von Hippel-Lindau Disease

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

193300

Clinical features from OMIM:

193300

Symptoms:

50 (show all 45)
  • chronic arterial hypertension
  • acute arterial hypertension/hypertensive crisis
  • 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
  • cerebral vascular anomalies
  • cardiac rhythm disorder/arrhythmia
  • structural anomalies of the pancreas
  • hyperhidrosis/increased sweating
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • telangiectasiae of the skin
  • mild visual loss/impaired visual acuity
  • autosomal dominant inheritance
  • vascular malignancy/tumor
  • kidney/renal neoplasm/tumor/carcinoma/cancer
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • 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
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • renal/kidney anomalies
  • hearing loss/hypoacusia/deafness
  • visual loss/blindness/amblyopia
  • macular dystrophy/absence/hypoplasia of the macula
  • 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

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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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

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21GeneTests, 23GTR
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Genetic tests related to Von Hippel-Lindau Disease:

id Genetic test Affiliating Genes
1 Von Hippel-Lindau Disease21 VHL
2 Von Hippel-Lindau Syndrome23
3 Von Hippel-Lindau23

Anatomical Context for Von Hippel-Lindau Disease

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34MalaCards
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MalaCards organs/tissues related to Von Hippel-Lindau Disease:

34
Kidney, Retina, Brain, Pancreas, Spinal cord, Adrenal gland, Eye, Skin, Cerebellum, Testes, Endothelial, Pituitary, Bone, Lung, Liver, Pineal, Adrenal cortex, Pancreatic islet, Cortex, Myeloid, Colon

Animal Models for Von Hippel-Lindau Disease or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Von Hippel-Lindau Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.6VHL, RET, HIF1A, SDHD
2MP:00053818.4INHA, HIF1A, RET, VHL
3MP:00020068.3INHA, SDHD, HIF1A, RET, VHL
4MP:00053798.3INHA, SDHD, HIF1A, RET, VHL
5MP:00028737.9VHL, RET, HIF1A, SDHD, INHA, PNMT
6MP:00053857.9PNMT, INHA, SDHD, HIF1A, RET, VHL
7MP:00053787.9INHA, SDHD, HIF1A, RET, VHL
8MP:00053767.8PNMT, INHA, SDHD, HIF1A, RET, VHL
9MP:00107687.3INHA, SDHD, SDHC, HIF1A, RET, VHL

Publications for Von Hippel-Lindau Disease

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53PubMed
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Articles related to Von Hippel-Lindau Disease:

(show top 50)    (show all 538)
idTitleAuthorsYear
1
Pancreatic cyst development: insights from von Hippel-Lindau disease. (23384121)
2013
2
Acute myeloid leukemia in a 38-year-old hemodialyzed patient with von Hippel-Lindau disease. (23968328)
2013
3
Clinical and mutation analysis of four Chinese families with von Hippel-Lindau disease. (23143947)
2013
4
Fine needle aspiration cytology of a clear cell (lipid-rich) pancreatic neuroendocrine tumour in a patient without von Hippel-Lindau disease. (22489965)
2013
5
Mosaicism in von Hippel-Lindau disease with severe renal manifestations. (23384228)
2013
6
Longitudinal analysis of retinal hemangioblastomatosis and visual function in ocular von Hippel-Lindau disease. (22906772)
2012
7
Bilateral cerebellar epithelioid hemangioblastoma with possible ependymal differentiation in a patient with von Hippel-Lindau disease. (22364576)
2012
8
Pazopanib therapy for cerebellar hemangioblastomas in von Hippel-Lindau disease: case report. (22374327)
2012
9
Pancreatic involvement in 11 cases of Von Hippel-Lindau disease. (22353527)
2012
10
Spinal cord hemangioblastomas in von hippel-lindau disease: management of asymptomatic and symptomatic tumors. (23074104)
2012
11
Intravitreal bevacizumab (avastin) combined with vitrectomy for recurrences of proliferative vitreoretinopathy in Von Hippel-Lindau disease. (21649868)
2012
12
Percutaneous ultrasound-guided radiofrequency ablation treatment and genetic testing for renal cell carcinoma with Von Hippel-Lindau disease. (22398592)
2012
13
Progress in nephron sparing therapy for renal cell carcinoma and von Hippel-Lindau disease. (21496837)
2011
14
Management of von Hippel-Lindau disease-associated CNS lesions. (21955200)
2011
15
Spinal anaesthesia for caesarean section for a woman with von Hippel Lindau disease. (20692826)
2010
16
Pancreatic manifestations of von Hippel-Lindau disease. (20586642)
2010
17
Pancreatic involvement in Korean patients with von Hippel-Lindau disease. (19333546)
2009
18
A case of von Hippel-Lindau disease with exudative maculopathy. (20671835)
2009
19
Surgical management of von Hippel-Lindau disease: urologic considerations. (19056047)
2009
20
VHL mutations linked to type 2C von Hippel-Lindau disease cause extensive structural perturbations in pVHL. (19228690)
2009
21
Genetic evaluation of von Hippel-Lindau disease for early diagnosis and improved prognosis. (18074239)
2008
22
Von Hippel-Lindau disease. (18039096)
2007
23
Microadenomatosis of the pancreas in von Hippel-Lindau disease. (17122523)
2006
24
Emergency pancreatoduodenectomy for pancreatic metastasis from renal cell carcinoma in a patient with von Hippel-Lindau disease: a case report. (16868829)
2006
25
Von Hippel-Lindau disease and endocrine tumour susceptibility. (16728571)
2006
26
Detection of germline deletions using real-time quantitative polymerase chain reaction in Japanese patients with von Hippel-Lindau disease. (16630138)
2006
27
Multifocal bilateral renal cell carcinoma and retinal angiomas in a patient with de novo von Hippel-Lindau disease: identification of a new germline mutation. (15931650)
2005
28
Recent advances in ideas on the molecular pathology and clinical aspects of Von Hippel-Lindau disease. (15375704)
2004
29
Unsuspected pheochromocytoma: von Hippel-Lindau disease. (14676566)
2004
30
Quiz page. von Hippel-Lindau disease. (14712464)
2004
31
The natural history of cerebellar hemangioblastomas in von Hippel-Lindau disease. (13679272)
2003
32
Treatment of intramedullary hemangioblastomas, with special attention to von Hippel-Lindau disease. (14633297)
2003
33
A case of von Hippel-Lindau disease with bilateral pheochromocytoma, renal cell carcinoma, pelvic tumor, spinal hemangioblastoma and primary hyperparathyroidism. (12081237)
2002
34
Pancreatic lesions in von Hippel-Lindau disease. (12390333)
2002
35
Von Hippel-Lindau disease masquerading as autosomal dominant polycystic kidney disease. (11273887)
2001
36
Suprasellar hemangioblastoma in a patient with von Hippel-Lindau disease confirmed by germline mutation study: case report and review of the literature. (11546565)
2001
37
Clear cell endocrine pancreatic tumor mimicking renal cell carcinoma: a distinctive neoplasm of von Hippel-Lindau disease. (11342771)
2001
38
Molecular genetic analysis and mutation screening of the VHL gene in a Japanese family with von Hippel-Lindau disease. (11354926)
2000
39
Attitudes of von Hippel-Lindau disease patients towards presymptomatic genetic diagnosis in children and prenatal diagnosis. (10928862)
2000
40
Renal cell carcinomas in von Hippel-Lindau disease; tumor detection and management. (10767590)
2000
41
Pancreatic involvement in von Hippel-Lindau disease. The Groupe Francophone d'Etude de la Maladie de von Hippel-Lindau. (11040195)
2000
42
VHL gene inactivation in an endolymphatic sac tumor associated with von Hippel-Lindau disease. (10408561)
1999
43
Metastasis of renal carcinoma to a cerebellar hemangioblastoma in a patient with von Hippel Lindau disease: a case report. (10616572)
1999
44
Von Hippel-Lindau disease: how does one gene cause multiple tumors? (10408528)
1999
45
Hepatic hemangioblastoma: an unusual presentation of von Hippel-Lindau disease. (10433288)
1999
46
Treatment of hemangioblastomas in von Hippel-Lindau disease with linear accelerator-based radiosurgery. (9657185)
1998
47
Tumor of the broad ligament in von Hippel-Lindau disease of probable mullerian origin. (9421096)
1997
48
Spinal leptomeningeal hemangioblastomatosis in von Hippel-Lindau disease: magnetic resonance and pathological findings. (9344008)
1997
49
Neurofibromatosis type 2 and von Hippel-Lindau disease: from gene cloning to function. (8586465)
1995
50
Von Hippel-Lindau disease: the recognition and treatment of early angiomatosis retinae and the use of cryosurgery as an adjunct to therapy. (5535648)
1970

Variations for Von Hippel-Lindau Disease

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Von Hippel-Lindau Disease:

65 (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

Clinvar genetic disease variations for Von Hippel-Lindau Disease:

1 (show all 15)
id Gene Name Type Significance SNP ID Assembly Location
1VHLVHL, 3-BP DEL, ILE75DELdeletionPathogenic
2VHLNM_000551.3(VHL): c.500G> A (p.Arg167Gln)single nucleotide variantPathogenicrs5030821GRCh37Chr 3, 10191507: 10191507
3VHLNM_000551.3(VHL): c.481C> T (p.Arg161Ter)single nucleotide variantPathogenicrs5030818GRCh37Chr 3, 10191488: 10191488
4VHLNM_000551.3(VHL): c.499C> T (p.Arg167Trp)single nucleotide variantPathogenicrs5030820GRCh37Chr 3, 10191506: 10191506
5VHLNM_000551.3(VHL): c.499C> G (p.Arg167Gly)single nucleotide variantPathogenicrs5030820GRCh37Chr 3, 10191506: 10191506
6VHLNM_000551.3(VHL): c.263G> C (p.Trp88Ser)single nucleotide variantPathogenicrs119103277GRCh37Chr 3, 10183794: 10183794
7VHLNM_000551.3(VHL): c.334T> C (p.Tyr112His)single nucleotide variantPathogenicrs104893824GRCh37Chr 3, 10183865: 10183865
8VHLNM_000551.3(VHL): c.292T> C (p.Tyr98His)single nucleotide variantPathogenicrs5030809GRCh37Chr 3, 10183823: 10183823
9VHLNM_000551.3(VHL): c.496G> T (p.Val166Phe)single nucleotide variantPathogenicrs104893825GRCh37Chr 3, 10191503: 10191503
10VHLNM_000551.3(VHL): c.562C> G (p.Leu188Val)single nucleotide variantPathogenicrs5030824GRCh37Chr 3, 10191569: 10191569
11VHLNM_000551.3(VHL): c.334T> A (p.Tyr112Asn)single nucleotide variantPathogenicrs104893824GRCh37Chr 3, 10183865: 10183865
12VHLNM_000551.3(VHL): c.388G> C (p.Val130Leu)single nucleotide variantPathogenicrs104893830GRCh37Chr 3, 10188245: 10188245
13VHLNM_000551.3(VHL): c.241C> T (p.Pro81Ser)single nucleotide variantPathogenic, Uncertain significancers104893829GRCh37Chr 3, 10183772: 10183772
14VHLNM_000551.3(VHL): c.250G> T (p.Val84Leu)single nucleotide variantPathogenicrs5030827GRCh37Chr 3, 10183781: 10183781
15VHLNM_000551.3(VHL): c.491A> G (p.Gln164Arg)single nucleotide variantPathogenicrs267607170GRCh37Chr 3, 10191498: 10191498

Expression for genes affiliated with Von Hippel-Lindau Disease

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2BioGPS, 16Gene Expression Omnibus DataSets
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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

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Sources:
51PathCards, 56Reactome, 31KEGG, 39NCBI BioSystems Database, 5Cell Signaling Technology, 54QIAGEN, 52PharmGKB
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Pathways related to Von Hippel-Lindau Disease according to GeneCards/GeneDecks:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6HIF1A, VHL
29.6HIF1A, VHL
3
Show member pathways
VEGFR1 specific signals39
9.6HIF1A, VHL
49.6VHL, HIF1A
59.6VHL, HIF1A
69.6HIF1A, VHL
79.0HIF1A, VHL, RET
8
Show member pathways
L-serine degradation39
pentose phosphate pathway (oxidative branch)39
formaldehyde oxidation II (glutathione-dependent)39
8.8SDHC, SDHD, SDHB
9
Show member pathways
Alzheimers Disease39
8.8SDHB, SDHD, SDHC
10
Show member pathways
TCA cycle39
pyruvate decarboxylation to acetyl CoA39
NAD phosphorylation and dephosphorylation39
TCA Cycle39
conversion of glucose to acetyl CoA and entry into the TCA cycle39
8.8SDHC, SDHD, SDHB
11
Show member pathways
8.8SDHB, SDHD, SDHC

Compounds for genes affiliated with Von Hippel-Lindau Disease

About this section
Sources:
46Novoseek, 12DrugBank, 25HMDB, 52PharmGKB, 30IUPHAR, 62Tocris Bioscience
See all sources

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

(show all 38)
idCompoundScoreTop Affiliating Genes
1cocl2469.9HIF1A, VHL
2cobalt chloride469.9VHL, HIF1A
3mibg469.9SDHD, SDHB
4deferoxamine46 1210.8VHL, HIF1A
5cobalt46 2510.8HIF1A, VHL
6nickel46 2510.7SDHB, HIF1A
7sorafenib46 52 1211.5RET, VHL
8nicotine46 30 52 1212.5VHL, HIF1A, PNMT
9rotenone469.5HIF1A, SDHB
10nad+469.5SDHB, INHA
11histidine469.5VHL, SDHB, PNMT
12alpha-ketoglutarate469.4VHL, HIF1A, SDHB
13sunitinib46 52 1211.4VHL, RET, HIF1A
14geldanamycin46 52 62 1212.3VHL, HIF1A
15ly294002469.2VHL, RET, HIF1A
16Fumaric acid259.2SDHC, SDHD, SDHB
17butyrate469.2RET, HIF1A, PNMT
18succinic acid30 25 1211.2SDHB, SDHD, SDHC
19iron-sulfur469.2SDHB, SDHD, SDHC
20ubiquinone469.2SDHC, SDHD, SDHB
21Sulfide259.1SDHC, SDHD, SDHB
22QH2259.1SDHC, SDHD, SDHB
23Ubiquinone Q2259.1SDHB, SDHD, SDHC
24Ubiquinone Q1259.1SDHC, SDHD, SDHB
25FAD259.1SDHB, SDHD, SDHC
26paraffin469.0RET, HIF1A, INHA
27catecholamine469.0PNMT, SDHB, SDHD, RET
28oligonucleotide468.8INHA, HIF1A, RET, VHL
29dopamine46 30 25 1211.7RET, HIF1A, SDHB, PNMT
30testosterone46 62 25 1211.7RET, HIF1A, SDHB, INHA
31alanine468.6INHA, SDHB, HIF1A, RET
32superoxide46 259.5HIF1A, SDHC, SDHB
33fumarate46 129.3SDHB, SDHD, SDHC, HIF1A, VHL
34iron46 259.3SDHB, SDHD, SDHC, HIF1A, VHL
35oxygen46 259.2SDHB, SDHD, SDHC, HIF1A, VHL
36vegf468.0SDHB, SDHC, HIF1A, RET, VHL
37tyrosine468.0PNMT, INHA, SDHB, HIF1A, RET, VHL
38succinate467.7VHL, RET, HIF1A, SDHC, SDHD, SDHB

GO Terms for genes affiliated with Von Hippel-Lindau Disease

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Sources:
17Gene 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:0057498.7SDHC, SDHD, SDHB
2mitochondrial inner membraneGO:0057438.5SDHB, SDHD, SDHC
3mitochondrionGO:0057398.4VHL, SDHC, SDHD, SDHB

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1hemoglobin biosynthetic processGO:0425419.7INHA, HIF1A
2regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:0614189.7HIF1A, VHL
3cellular response to hypoxiaGO:0714569.6VHL, HIF1A
4neural crest cell migrationGO:0017559.3RET, HIF1A
5aerobic respirationGO:0090609.2SDHC, SDHB
6tricarboxylic acid cycleGO:0060999.0SDHC, SDHD, SDHB
7respiratory electron transport chainGO:0229049.0SDHC, SDHD, SDHB
8cellular metabolic processGO:0442378.9SDHC, SDHD, SDHB
9positive regulation of transcription, DNA-templatedGO:0458938.7VHL, RET, HIF1A
10small molecule metabolic processGO:0442818.2PNMT, SDHB, SDHD, SDHC

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

idNameGO IDScoreTop Affiliating Genes
1ubiquinone bindingGO:0480399.3SDHD, SDHB
2succinate dehydrogenase activityGO:0001049.2SDHC, SDHD
3electron carrier activityGO:0090558.8SDHC, SDHD, SDHB

Products for genes affiliated with Von Hippel-Lindau Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Von Hippel-Lindau Disease

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet