VHL
MCID: VNH001
MIFTS: 81

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
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Summaries for Von Hippel-Lindau Disease

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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 based summary: Von Hippel-Lindau Disease, also known as von hippel-lindau syndrome, is related to hemangioblastoma and cystadenoma, and has symptoms including retinal vascular anomalies/retinal telangiectasia, nystagmus and sensorineural deafness/hearing loss. 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.

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.

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

Description from OMIM:46 193300

GeneReviews summary for vhl

Aliases & Classifications for Von Hippel-Lindau Disease

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Sources:
8Disease Ontology, 65Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 21Genetics Home Reference, 43NINDS, 10DISEASES, 44Novoseek, 48Orphanet, 33MedlinePlus, 62UMLS, 9diseasecard, 46OMIM, 20GeneTests, 22GTR, 39NCIt, 57SNOMED-CT, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Von Hippel-Lindau Disease, Aliases & Descriptions:

Name: Von Hippel-Lindau Disease 8 65 19 42 21 43 10 44 48 33 62
Von Hippel-Lindau Syndrome 8 9 19 42 21 46 48 62
Vhl Syndrome 65 19 42 21
Cerebelloretinal Angiomatosis, Familial 65 21 62
Von Hippel Lindau Disease 42 20 22
Angiomatosis Retinae 65 19 21
Hippel-Lindau Disease 65 21
 
Vhl 42 48
Familial Cerebelloretinal Angiomatosis 48
Von Hippel–lindau Disease 65
Hippel Lindau Syndrome 8
Angiomatosis of Retina 62
Lindau Disease 48


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:14175
OMIM46 193300
NCIt39 C3105
MeSH34 D006623
SNOMED-CT57 46659004
MESH via Orphanet35 D006623
ICD10 via Orphanet26 Q85.8
UMLS via Orphanet63 C0019562

Related Diseases for Von Hippel-Lindau Disease

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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 164)
idRelated DiseaseScoreTop Affiliating Genes
1hemangioblastoma32.1INHA, HIF1A, VHL
2cystadenoma31.6INHA, VHL
3pheochromocytoma31.5VHL, RET, SDHD, SDHB
4neuroendocrine tumor31.4RET, SDHD
5erythrocytosis31.3HIF1A, VHL
6paraganglioma31.2SDHB, SDHD, VHL
7neurofibromatosis31.0SDHD, SDHB
8polycythemia30.9VHL, HIF1A
9peutz-jeghers syndrome30.8INHA, VHL
10neuroma30.8RET
11renal clear cell carcinoma30.7VHL, HIF1A, INHA
12adenoma30.7VHL, RET, INHA
13phaeochromocytoma30.6RET, SDHC, SDHD, SDHB
14hemangioma30.6SDHB, SDHD, SDHC, RET, VHL
15cushing's syndrome30.6RET, INHA
16astrocytoma30.5INHA, HIF1A, VHL
17multiple endocrine neoplasia30.1VHL, RET, SDHC, SDHD, SDHB, PNMT
18hyperparathyroidism29.9RET, SDHC, SDHD, SDHB
19hereditary paraganglioma-pheochromocytoma syndromes29.9SDHB, SDHD, SDHC
20pancreatic cancer29.8RET, INHA
21breast cancer29.7VHL, HIF1A, SDHC, SDHB, INHA
22adrenal cortical adenoma29.5VHL, SDHC, SDHD, SDHB, INHA
23kidney cancer29.3INHA, SDHB, SDHC, HIF1A, RET, VHL
24multiple endocrine neoplasia type 2a29.3SDHB, SDHD, SDHC, RET, VHL
25pancreatitis11.2
26renal cell carcinoma11.1
27retinitis11.1
28endolymphatic sac tumor11.0
29angiomatosis10.9
30capillary hemangioma10.9
31retinal hemangioblastoma10.7
32endotheliitis10.7
33islet cell tumor10.6
34epididymitis10.6
35pheochromocytoma, modifier of10.6
36hepatitis10.5
37papillary renal cell carcinoma10.5
38somatostatinoma10.5
39macular holes10.5
40polycystic kidney disease10.5
41obstructive jaundice10.5
42tuberous sclerosis10.5
43cerebritis10.5
44adenocarcinoma10.5
45cervicitis10.5
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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Symptoms by clinical synopsis from OMIM:

193300

Clinical features from OMIM:

193300

Symptoms:

48 (show all 45)
  • retinal vascular anomalies/retinal telangiectasia
  • nystagmus
  • sensorineural deafness/hearing loss
  • vascular anomalies of skin/mucosae
  • congenital pancreatic cyst
  • visceral angiomatosis (excluding skin)
  • arteriovenous malformations/vascular malformations (excluding port-wine stains)
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • cerebral vascular anomalies
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • kidney/renal neoplasm/tumor/carcinoma/cancer
  • vascular malignancy/tumor
  • autosomal dominant inheritance
  • mild visual loss/impaired visual acuity
  • telangiectasiae of the skin
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • renal/kidney anomalies
  • multicystic kidney/renal dysplasia
  • hydrocephaly
  • facial pain/cephalalgia/migraine
  • motor deficit/trouble
  • abnormal gait
  • ataxia/incoordination/trouble of the equilibrium
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • sensitive trouble/deficit
  • glaucoma
  • cataract/lens opacification
  • retinal detachment
  • macular dystrophy/absence/hypoplasia of the macula
  • visual loss/blindness/amblyopia
  • hearing loss/hypoacusia/deafness
  • hyperhidrosis/increased sweating
  • structural anomalies of the pancreas
  • cardiac rhythm disorder/arrhythmia
  • 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

HPO human phenotypes related to Von Hippel-Lindau Disease:

(show all 51)
id Description Frequency HPO Source Accession
1 sensorineural hearing impairment hallmark (90%) HP:0000407
2 nystagmus hallmark (90%) HP:0000639
3 pancreatic cysts hallmark (90%) HP:0001737
4 neurological speech impairment hallmark (90%) HP:0002167
5 aplasia/hypoplasia of the cerebellum hallmark (90%) HP:0007360
6 abnormality of the retinal vasculature hallmark (90%) HP:0008046
7 renal neoplasm hallmark (90%) HP:0009726
8 arteriovenous malformation hallmark (90%) HP:0100026
9 abnormality of the cerebral vasculature hallmark (90%) HP:0100659
10 visceral angiomatosis hallmark (90%) HP:0100761
11 multicystic kidney dysplasia typical (50%) HP:0000003
12 hydrocephalus typical (50%) HP:0000238
13 visual impairment typical (50%) HP:0000505
14 gait disturbance typical (50%) HP:0001288
15 nausea and vomiting typical (50%) HP:0002017
16 migraine typical (50%) HP:0002076
17 incoordination typical (50%) HP:0002311
18 hemiplegia/hemiparesis typical (50%) HP:0004374
19 teleangiectasia of the skin typical (50%) HP:0100585
20 polycystic kidney dysplasia occasional (7.5%) HP:0000113
21 glaucoma occasional (7.5%) HP:0000501
22 visual impairment occasional (7.5%) HP:0000505
23 cataract occasional (7.5%) HP:0000518
24 retinal detachment occasional (7.5%) HP:0000541
25 hyperhidrosis occasional (7.5%) HP:0000975
26 abnormality of the macula occasional (7.5%) HP:0001103
27 increased intracranial pressure occasional (7.5%) HP:0002516
28 arrhythmia occasional (7.5%) HP:0011675
29 neuroendocrine neoplasm occasional (7.5%) HP:0100634
30 hypertensive crisis occasional (7.5%) HP:0100735
31 abnormality of the lymphatic system occasional (7.5%) HP:0100763
32 neoplasm of the middle ear occasional (7.5%) HP:0100799
33 autosomal dominant inheritance HP:0000006
34 tinnitus HP:0000360
35 sensorineural hearing impairment HP:0000407
36 hypertension HP:0000822
37 abnormality of the liver HP:0001392
38 pancreatic cysts HP:0001737
39 polycythemia HP:0001901
40 vertigo HP:0002321
41 pheochromocytoma HP:0002666
42 paraganglioma HP:0002668
43 neoplasm of the pancreas HP:0002894
44 phenotypic variability HP:0003812
45 multiple renal cysts HP:0005562
46 renal cell carcinoma HP:0005584
47 pulmonary capillary hemangiomatosis HP:0005954
48 cerebellar hemangioblastoma HP:0006880
49 retinal hemangioblastoma HP:0009711
50 spinal hemangioblastoma HP:0009713
51 papillary cystadenoma of the epididymis HP:0009715

Drugs & Therapeutics for Von Hippel-Lindau Disease

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Drug clinical trials:

Search ClinicalTrials for Von Hippel-Lindau Disease

Search NIH Clinical Center for Von Hippel-Lindau Disease

Genetic Tests for Von Hippel-Lindau Disease

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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

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

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

Animal Models for Von Hippel-Lindau Disease or affiliated genes

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MGI Mouse Phenotypes related to Von Hippel-Lindau Disease:

36
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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Articles related to Von Hippel-Lindau Disease:

(show top 50)    (show all 562)
idTitleAuthorsYear
1
Obstructive jaundice due to von Hippel-Lindau disease-associated pancreatic lesions: A case report. (24959293)
2014
2
Telomere shortening is associated with genetic anticipation in Chinese Von Hippel-Lindau disease families. (24986515)
2014
3
Bilateral papillopathy as a presenting sign of pheochromocytoma associated with von Hippel-Lindau disease. (24707167)
2014
4
Multiple lung adenocarcinomas associated with von hippel-lindau disease. (25282218)
2014
5
Inhibin-expressing clear cell neuroendocrine tumor of the ampulla: an unusual presentation of von Hippel-Lindau disease. (23913169)
2013
6
Pancreatic cyst development: insights from von Hippel-Lindau disease. (23384121)
2013
7
von Hippel-Lindau disease and pregnancy: what an obstetrician should know. (25102122)
2013
8
Acute myeloid leukemia in a 38-year-old hemodialyzed patient with von Hippel-Lindau disease. (23968328)
2013
9
Clinical and mutation analysis of four Chinese families with von Hippel-Lindau disease. (23143947)
2013
10
Fine needle aspiration cytology of a clear cell (lipid-rich) pancreatic neuroendocrine tumour in a patient without von Hippel-Lindau disease. (22489965)
2013
11
Mosaicism in von Hippel-Lindau disease with severe renal manifestations. (23384228)
2013
12
Longitudinal analysis of retinal hemangioblastomatosis and visual function in ocular von Hippel-Lindau disease. (22906772)
2012
13
Bilateral cerebellar epithelioid hemangioblastoma with possible ependymal differentiation in a patient with von Hippel-Lindau disease. (22364576)
2012
14
Pazopanib therapy for cerebellar hemangioblastomas in von Hippel-Lindau disease: case report. (22374327)
2012
15
Pancreatic involvement in 11 cases of Von Hippel-Lindau disease. (22353527)
2012
16
Spinal cord hemangioblastomas in von hippel-lindau disease: management of asymptomatic and symptomatic tumors. (23074104)
2012
17
Intravitreal bevacizumab (avastin) combined with vitrectomy for recurrences of proliferative vitreoretinopathy in Von Hippel-Lindau disease. (21649868)
2012
18
Percutaneous ultrasound-guided radiofrequency ablation treatment and genetic testing for renal cell carcinoma with Von Hippel-Lindau disease. (22398592)
2012
19
Progress in nephron sparing therapy for renal cell carcinoma and von Hippel-Lindau disease. (21496837)
2011
20
Management of von Hippel-Lindau disease-associated CNS lesions. (21955200)
2011
21
Spinal anaesthesia for caesarean section for a woman with von Hippel Lindau disease. (20692826)
2010
22
Pancreatic manifestations of von Hippel-Lindau disease. (20586642)
2010
23
Pancreatic involvement in Korean patients with von Hippel-Lindau disease. (19333546)
2009
24
A case of von Hippel-Lindau disease with exudative maculopathy. (20671835)
2009
25
Surgical management of von Hippel-Lindau disease: urologic considerations. (19056047)
2009
26
VHL mutations linked to type 2C von Hippel-Lindau disease cause extensive structural perturbations in pVHL. (19228690)
2009
27
Von Hippel-Lindau disease. (18039096)
2007
28
Microadenomatosis of the pancreas in von Hippel-Lindau disease. (17122523)
2006
29
Emergency pancreatoduodenectomy for pancreatic metastasis from renal cell carcinoma in a patient with von Hippel-Lindau disease: a case report. (16868829)
2006
30
Von Hippel-Lindau disease and endocrine tumour susceptibility. (16728571)
2006
31
Detection of germline deletions using real-time quantitative polymerase chain reaction in Japanese patients with von Hippel-Lindau disease. (16630138)
2006
32
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
33
Recent advances in ideas on the molecular pathology and clinical aspects of Von Hippel-Lindau disease. (15375704)
2004
34
Unsuspected pheochromocytoma: von Hippel-Lindau disease. (14676566)
2004
35
The natural history of cerebellar hemangioblastomas in von Hippel-Lindau disease. (13679272)
2003
36
Treatment of intramedullary hemangioblastomas, with special attention to von Hippel-Lindau disease. (14633297)
2003
37
A case of von Hippel-Lindau disease with bilateral pheochromocytoma, renal cell carcinoma, pelvic tumor, spinal hemangioblastoma and primary hyperparathyroidism. (12081237)
2002
38
Von Hippel-Lindau disease masquerading as autosomal dominant polycystic kidney disease. (11273887)
2001
39
Suprasellar hemangioblastoma in a patient with von Hippel-Lindau disease confirmed by germline mutation study: case report and review of the literature. (11546565)
2001
40
Molecular genetic analysis and mutation screening of the VHL gene in a Japanese family with von Hippel-Lindau disease. (11354926)
2000
41
Attitudes of von Hippel-Lindau disease patients towards presymptomatic genetic diagnosis in children and prenatal diagnosis. (10928862)
2000
42
Renal cell carcinomas in von Hippel-Lindau disease; tumor detection and management. (10767590)
2000
43
VHL gene inactivation in an endolymphatic sac tumor associated with von Hippel-Lindau disease. (10408561)
1999
44
Metastasis of renal carcinoma to a cerebellar hemangioblastoma in a patient with von Hippel Lindau disease: a case report. (10616572)
1999
45
Von Hippel-Lindau disease: how does one gene cause multiple tumors? (10408528)
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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UniProtKB/Swiss-Prot genetic disease variations for Von Hippel-Lindau Disease:

64 (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:

6 (show all 21)
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 variantPathogenicrs104893829GRCh37Chr 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
16VHLNM_000551.3(VHL): c.242C> T (p.Pro81Leu)single nucleotide variantLikely pathogenicrs193922608GRCh37Chr 3, 10183773: 10183773
17VHLNM_000551.3(VHL): c.320G> C (p.Arg107Pro)single nucleotide variantLikely pathogenicrs193922609GRCh37Chr 3, 10183851: 10183851
18VHLNM_000551.3(VHL): c.371C> T (p.Thr124Ile)single nucleotide variantLikely pathogenicrs193922610GRCh37Chr 3, 10188228: 10188228
19VHLNM_000551.3(VHL): c.458T> A (p.Leu153Gln)single nucleotide variantLikely pathogenicrs193922611GRCh37Chr 3, 10188315: 10188315
20VHLNM_000551.3(VHL): c.524A> G (p.Tyr175Cys)single nucleotide variantLikely pathogenicrs193922613GRCh37Chr 3, 10191531: 10191531
21VHLp.X214Trpsingle nucleotide variantLikely pathogenic

Expression for genes affiliated with Von Hippel-Lindau Disease

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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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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
9.6VHL, HIF1A
29.6HIF1A, VHL
3
Show member pathways
VEGFR1 specific signals37
9.6VHL, HIF1A
49.6HIF1A, VHL
59.6VHL, HIF1A
69.6VHL, HIF1A
79.0HIF1A, RET, VHL
8
Show member pathways
L-serine degradation37
pentose phosphate pathway (oxidative branch)37
formaldehyde oxidation II (glutathione-dependent)37
8.8SDHC, SDHD, SDHB
9
Show member pathways
Alzheimers Disease37
8.8SDHC, SDHD, SDHB
10
Show member pathways
TCA cycle37
pyruvate decarboxylation to acetyl CoA37
NAD phosphorylation and dephosphorylation37
TCA Cycle37
conversion of glucose to acetyl CoA and entry into the TCA cycle37
8.8SDHC, SDHD, SDHB
11
Show member pathways
8.8SDHC, SDHD, SDHB

Compounds for genes affiliated with Von Hippel-Lindau Disease

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

(show all 38)
idCompoundScoreTop Affiliating Genes
1cocl2449.9HIF1A, VHL
2cobalt chloride449.9VHL, HIF1A
3mibg449.9SDHD, SDHB
4deferoxamine44 1110.8VHL, HIF1A
5cobalt44 2410.8HIF1A, VHL
6nickel44 2410.7SDHB, HIF1A
7sorafenib44 50 1111.5RET, VHL
8nicotine44 28 50 1112.5VHL, HIF1A, PNMT
9rotenone449.5HIF1A, SDHB
10nad+449.5SDHB, INHA
11histidine449.5VHL, SDHB, PNMT
12alpha-ketoglutarate449.4VHL, HIF1A, SDHB
13sunitinib44 50 1111.4VHL, RET, HIF1A
14geldanamycin44 50 61 1112.3VHL, HIF1A
15ly294002449.2VHL, RET, HIF1A
16Fumaric acid249.2SDHC, SDHD, SDHB
17butyrate449.2RET, HIF1A, PNMT
18succinic acid28 24 1111.2SDHB, SDHD, SDHC
19iron-sulfur449.2SDHB, SDHD, SDHC
20ubiquinone449.2SDHC, SDHD, SDHB
21Sulfide249.1SDHC, SDHD, SDHB
22QH2249.1SDHC, SDHD, SDHB
23Ubiquinone Q2249.1SDHB, SDHD, SDHC
24Ubiquinone Q1249.1SDHC, SDHD, SDHB
25FAD249.1SDHB, SDHD, SDHC
26paraffin449.0RET, HIF1A, INHA
27catecholamine449.0PNMT, SDHB, SDHD, RET
28oligonucleotide448.8INHA, HIF1A, RET, VHL
29dopamine44 28 24 1111.7RET, HIF1A, SDHB, PNMT
30testosterone44 61 24 1111.7RET, HIF1A, SDHB, INHA
31alanine448.6INHA, SDHB, HIF1A, RET
32superoxide44 249.5HIF1A, SDHC, SDHB
33fumarate44 119.3SDHB, SDHD, SDHC, HIF1A, VHL
34iron44 249.3SDHB, SDHD, SDHC, HIF1A, VHL
35oxygen44 249.2SDHB, SDHD, SDHC, HIF1A, VHL
36vegf448.0SDHB, SDHC, HIF1A, RET, VHL
37tyrosine448.0PNMT, INHA, SDHB, HIF1A, RET, VHL
38succinate447.7VHL, RET, HIF1A, SDHC, SDHD, SDHB

GO Terms for genes affiliated with Von Hippel-Lindau Disease

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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

Sources for Von Hippel-Lindau Disease

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet