MCID: VNH007
MIFTS: 65

Von Hippel-Lindau Syndrome 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 Syndrome

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NINDS:42 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 Syndrome, also known as von hippel-lindau disease, is related to hemangioblastoma and pheochromocytoma, and has symptoms including sensorineural hearing impairment, nystagmus and pancreatic cysts. An important gene associated with Von Hippel-Lindau Syndrome is VHL (von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase), and among its related pathways are HIF-1 signaling pathway and Angiogenesis. The compounds sorafenib and Fumaric acid have been mentioned in the context of this disorder. Affiliated tissues include kidney, brain and retina, and related mouse phenotypes are tumorigenesis 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:41 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

OMIM:45 Von Hippel-Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of... (193300) more...

MedlinePlus:32 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

GeneReviews summary for vhl

Aliases & Classifications for Von Hippel-Lindau Syndrome

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 63Wikipedia, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 42NINDS, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 32MedlinePlus, 60UMLS, 55SNOMED-CT, 33MeSH, 38NCIt, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Von Hippel-Lindau Syndrome, Aliases & Descriptions:

Name: Von Hippel-Lindau Syndrome 45 9 10 19 41 21 47 60
Von Hippel-Lindau Disease 9 63 19 41 21 42 11 43 47 32
Vhl Syndrome 63 19 41 21
Von Hippel Lindau Disease 41 20 22
Angiomatosis Retinae 63 19 21
Cerebelloretinal Angiomatosis, Familial 63 21
 
Familial Cerebelloretinal Angiomatosis 41 47
Hippel-Lindau Disease 63 21
Lindau Disease 41 47
Vhl 41 47
Von Hippel-Lindau Syndrome, Modifier of 45
Hippel Lindau Syndrome 9


Classifications:



Characteristics (Orphanet epidemiological data):

47
von hippel-lindau disease:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (United Kingdom); Age of onset: Adult; Age of death: elderly


External Ids:

OMIM45 193300
Disease Ontology9 DOID:14175
MeSH33 D006623
NCIt38 C3105
SNOMED-CT55 46659004
Orphanet47 892
MESH via Orphanet34 D006623
ICD10 via Orphanet26 Q85.8
UMLS via Orphanet61 C0019562

Related Diseases for Von Hippel-Lindau Syndrome

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Diseases related to Von Hippel-Lindau Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 147)
idRelated DiseaseScoreTop Affiliating Genes
1hemangioblastoma31.6INHA, VHL
2pheochromocytoma31.5VHL, SDHD
3phaeochromocytoma31.3SDHD, SDHC
4cystadenoma31.1VHL, INHA
5hemangioma30.9SDHD, SDHC, ANGPT2, VHL
6renal clear cell carcinoma30.9INHA, VHL
7peutz-jeghers syndrome30.8VHL, INHA
8neurofibromatosis30.7SDHD, SDHC, VHL
9hereditary paraganglioma-pheochromocytoma syndromes30.6SDHC, SDHD
10hyperparathyroidism30.6SDHC, SDHD
11neuroendocrine tumor30.6CHGB, SDHD
12multiple endocrine neoplasia30.5PNMT, SDHD, SDHC, CHGB, VHL
13pancreatic cancer30.5CCND1, INHA
14lung cancer30.5VHL, CCND1, ANGPT2
15astrocytoma30.4INHA, ANGPT2, VHL
16adenoma30.4INHA, CHGB, ANGPT2, CCND1, VHL
17breast cancer30.3CCND1, ANGPT2, CHGB
18adenocarcinoma30.3VHL, CCND1, ANGPT2, CHGB, INHA
19glomus tumor30.3SDHD, VHL
20kidney cancer30.2INHA, SDHC, ANGPT2, VHL
21paraganglioma30.2PNMT, SDHD, SDHC, CHGB, VHL
22adrenal cortical adenoma29.7INHA, SDHD, SDHC, VHL
23prostate cancer29.4CCND1, ANGPT2, SDHC, INHA
24capillary hemangioma10.9
25angiomatosis10.9
26retinal hemangioblastoma10.7
27renal cell carcinoma10.6
28islet cell tumor10.6
29erythrocytosis, familial, 210.5
30pancreatic serous cystadenoma10.5
31pancreatitis10.5
32endotheliitis10.5
33sporadic pheochromocytoma10.5
34hepatitis10.5
35somatostatinoma10.5
36macular holes10.5
37polycystic kidney disease10.5
38papillary adenoma10.5
39obstructive jaundice10.5
40cerebritis10.5
41cervicitis10.5
42kidney disease10.5
43chuvash erythrocytosis10.5
44adrenal gland pheochromocytoma10.4
45cataract congenital dominant non nuclear10.4
46polycythemia10.4
47portal hypertension10.4
48tuberous sclerosis10.4
49hypogonadism10.4
50intracranial aneurysm10.4

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



Diseases related to von hippel-lindau syndrome

Symptoms for Von Hippel-Lindau Syndrome

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Symptoms by clinical synopsis from OMIM:

193300

Clinical features from OMIM:

193300

Symptoms:

 47 (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 Syndrome:

(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 Syndrome

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Drug clinical trials:

Search ClinicalTrials for Von Hippel-Lindau Syndrome

Search NIH Clinical Center for Von Hippel-Lindau Syndrome

Genetic Tests for Von Hippel-Lindau Syndrome

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Genetic tests related to Von Hippel-Lindau Syndrome:

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 Syndrome

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

31
Kidney, Brain, Retina, Pancreas, Spinal cord, Adrenal gland, Eye, Skin, Cerebellum, Liver, Endothelial

Animal Models for Von Hippel-Lindau Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Von Hippel-Lindau Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.3VHL, CCND1, SDHD, INHA
2MP:00053818.3VHL, CCND1, ANGPT2, INHA
3MP:00053798.0INHA, SDHD, CHGB, CCND1, VHL
4MP:00028738.0PNMT, INHA, SDHD, CCND1, VHL
5MP:00053857.5PNMT, INHA, SDHD, ANGPT2, CCND1, VHL
6MP:00053767.1VHL, PNMT, INHA, SDHD, CHGB, ANGPT2
7MP:00107687.0INHA, SDHD, SDHC, ANGPT2, CCND1, VHL

Publications for Von Hippel-Lindau Syndrome

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Articles related to Von Hippel-Lindau Syndrome:

(show all 44)
idTitleAuthorsYear
1
Biliary and gastric drainage in advanced pancreatic serous cystadenoma and portal hypertension in Von Hippel-Lindau syndrome. (24772348)
2014
2
Clear cell papillary renal cell carcinoma in patients with von Hippel-Lindau syndrome--clinicopathological features and comparative genomic analysis of 3 cases. (25081542)
2014
3
68Ga DOTANOC PET/CT aiding in the diagnosis of von Hippel-Lindau syndrome by detecting cerebellar hemangioblastoma and adrenal pheochromocytoma. (24999687)
2014
4
Paraplegia in a patient with Von Hippel Lindau syndrome: surgical and reconstructive treatment of Marjolin's ulcer. A case report. (25376307)
2014
5
Von hippel-lindau syndrome: diagnosis and management of hemangioblastoma and pheochromocytoma. (23781388)
2013
6
Bilateral Laparoscopic adrenalectomy due to a phaeochromocytoma in Von Hippel-Lindau Syndrome: a technique with 4 trocars. (22591617)
2012
7
Midline basifrontal solid hemangioblastoma in non von hippel lindau syndrome patient. (23189014)
2012
8
Partial adrenalectomy minimizes the need for long-term hormone replacement in pediatric patients with pheochromocytoma and von Hippel-Lindau syndrome. (23164001)
2012
9
Long-term disease control with sunitinib in a patient with metastatic pancreatic neuroendocrine tumor (NET) associated with Von Hippel-Lindau syndrome (VHL). (22415670)
2012
10
Molecular basis of von Hippel-Lindau syndrome in Chinese patients. (21362373)
2011
11
Spinal hemangioblastoma of cauda equina origin not associated with von Hippel-Lindau syndrome--case report. (22027253)
2011
12
Re: Functional and oncologic outcomes of partial adrenalectomy for pheochromocytoma in patients with von Hippel-Lindau syndrome after at least 5 years of followup. J. N. Benhammou, R. S. Boris, K. Pacak, P. A. Pinto, W. M. Linehan and G. Bratslavsky. J Urol 2010;184:1855-1859. (21511290)
2011
13
Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndrome. (19906784)
2010
14
Epididymal cyst in von Hippel-Lindau syndrome: clinicopathologic analysis of 3 cases]. (20369698)
2010
15
Clinicopathologic study of von Hippel-Lindau syndrome-related and sporadic hemangioblastomas of central nervous system]. (20450758)
2010
16
Large germline deletion of the VHL gene in Chinese families with von Hippel-Lindau syndrome]. (19806577)
2009
17
Hypogonadotrophic hypogonadism due to intrasellar hemangioblastoma in von Hippel-Lindau syndrome. (19215058)
2009
18
Parasympathetic paragangliomas are part of the Von Hippel-Lindau syndrome. (19808854)
2009
19
Indium-111 pentetreotide uptake within cerebellar hemangioblastoma in von Hippel-lindau syndrome. (18356676)
2008
20
Proteomic profiling of von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2 pheochromocytomas reveals different expression of chromogranin B. (17639059)
2007
21
Renal cell carcinoma in a von Hippel-Lindau syndrome: when should phaeochromocytoma be anticipated? (17657389)
2007
22
Germ line mutations in Chinese kindreds with von Hippel-Lindau syndrome]. (17407064)
2007
23
Neuropeptide Y expression in phaeochromocytomas: relative absence in tumours from patients with von Hippel-Lindau syndrome. (17470513)
2007
24
Chromogranin a expression in phaeochromocytomas associated with von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2. (18046660)
2007
25
Ruptured intracranial aneurysm associated with von Hippel-Lindau syndrome: a molecular link? (16506495)
2006
26
Transcriptional regulation of phenylethanolamine N-methyltransferase in pheochromocytomas from patients with von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2. (17102092)
2006
27
Central nervous system hemangioblastoma and von Hippel-Lindau syndrome: a familial presentation. (16891280)
2006
28
Consider von Hippel-Lindau syndrome in young patients presenting with retinal angioma and phaeochromocytoma. (16176477)
2005
29
Different expression of catecholamine transporters in phaeochromocytomas from patients with von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2. (16189177)
2005
30
Neuroimaging of phakomatoses: Sturge-Weber syndrome, tuberous sclerosis, von Hippel-Lindau syndrome. (15182814)
2004
31
Distinct gene expression profiles in norepinephrine- and epinephrine-producing hereditary and sporadic pheochromocytomas: activation of hypoxia-driven angiogenic pathways in von Hippel-Lindau syndrome. (15613462)
2004
32
Optic nerve glioma in a patient with von Hippel-Lindau syndrome. (12580276)
2003
33
Rapid and durable recovery of visual function in a patient with von hippel-lindau syndrome after systemic therapy with vascular endothelial growth factor receptor inhibitor su5416. (12208726)
2002
34
Pheochromocytomas in von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2 display distinct biochemical and clinical phenotypes. (11344198)
2001
35
Genotype-phenotype correlation in von Hippel-Lindau syndrome. (11257110)
2001
36
Differential genetic alterations in von Hippel-Lindau syndrome-associated and sporadic pheochromocytomas. (11134110)
2000
37
Expression of vascular endothelial growth factor in von Hippel-Lindau syndrome-associated papillary cystadenoma of the epididymis. (9824115)
1998
38
Functioning carotid paraganglioma in the von Hippel-Lindau syndrome. (9880225)
1998
39
Anesthetic management of von Hippel-Lindau Syndrome for excision of cerebellar hemangioblastoma and pheochromocytoma surgery. (9495437)
1998
40
Von Hippel-Lindau syndrome: hereditary cancer arising from inherited mutations of the VHL tumor suppressor gene. (9239471)
1996
41
Von Hippel-Lindau syndrome. (7670659)
1995
42
Cytogenetic and fluorescence in situ hybridization studies on sporadic and hereditary tumors associated with von Hippel-Lindau syndrome (VHL). (7923076)
1994
43
von Hippel-Lindau syndrome: cloning and identification of the plasma membrane Ca(++)-transporting ATPase isoform 2 gene that resides in the von Hippel-Lindau gene region. (8428366)
1993
44
Clustering of features of von Hippel-Lindau syndrome: evidence for a complex genetic locus. (1673491)
1991

Variations for Von Hippel-Lindau Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Von Hippel-Lindau Syndrome:

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

Clinvar genetic disease variations for Von Hippel-Lindau Syndrome:

6 (show all 21)
id Gene Variation 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

Cosmic variations for Von Hippel-Lindau Syndrome:

7 (show all 14)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
128750IDH1central nervous system,brain,other,neoplasm3
228749IDH1central nervous system,brain,other,neoplasm3
328746IDH1central nervous system,brain,other,neoplasm3
428747IDH1central nervous system,brain,other,neoplasm3
528748IDH1central nervous system,brain,other,neoplasm3
617666VHLadrenal gland,adrenal gland,pheochromocytoma,malignant3
717662VHLadrenal gland,adrenal gland,pheochromocytoma,malignant3
814311VHLadrenal gland,adrenal gland,pheochromocytoma,malignant3
917665VHLadrenal gland,adrenal gland,pheochromocytoma,malignant3
10486HRASadrenal gland,adrenal gland,pheochromocytoma,benign3
11499HRASadrenal gland,adrenal gland,pheochromocytoma,benign3
12496HRASadrenal gland,adrenal gland,pheochromocytoma,benign3
13329089NF1adrenal gland,adrenal gland,pheochromocytoma,benign3
14965RETadrenal gland,adrenal gland,pheochromocytoma,benign3

Expression for genes affiliated with Von Hippel-Lindau Syndrome

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

Pathways for genes affiliated with Von Hippel-Lindau Syndrome

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Pathways related to Von Hippel-Lindau Syndrome according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5VHL, ANGPT2
29.5VHL, ANGPT2
3
Show member pathways
TCA cycle36
pyruvate decarboxylation to acetyl CoA36
NAD phosphorylation and dephosphorylation36
TCA Cycle36
conversion of glucose to acetyl CoA and entry into the TCA cycle36
9.4SDHC, SDHD

Compounds for genes affiliated with Von Hippel-Lindau Syndrome

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Compounds related to Von Hippel-Lindau Syndrome according to GeneCards Suite gene sharing:

(show all 27)
idCompoundScoreTop Affiliating Genes
1sorafenib43 49 1212.0CCND1, VHL
2Fumaric acid249.8SDHC, SDHD
3geldanamycin43 49 59 1212.8VHL, CCND1
4succinic acid28 24 1211.7SDHD, SDHC
5iron-sulfur439.7SDHD, SDHC
6ubiquinone439.7SDHC, SDHD
7nicotine43 28 49 1212.7VHL, CCND1, PNMT
8Sulfide249.7SDHD, SDHC
9QH2249.6SDHC, SDHD
10Ubiquinone Q2249.6SDHC, SDHD
11trastuzumab43 49 1211.5CCND1, ANGPT2
12Ubiquinone Q1249.5SDHD, SDHC
13celecoxib43 59 28 49 24 1214.5ANGPT2, CCND1
14fumarate43 1210.5VHL, SDHC, SDHD
15succinate439.5SDHD, SDHC, VHL
16catecholamine439.4PNMT, SDHD, CHGB
17ly294002439.4ANGPT2, CCND1, VHL
18progestin439.4CCND1, ANGPT2
19iron43 2410.3VHL, SDHC, SDHD
20vegf438.9VHL, CCND1, ANGPT2, SDHC
21paraffin438.9CCND1, ANGPT2, INHA
22oligonucleotide438.8INHA, CHGB, CCND1, VHL
23oxygen43 249.8VHL, ANGPT2, SDHC, SDHD
24steroid438.5INHA, SDHC, ANGPT2, CCND1
25serine438.4VHL, CCND1, ANGPT2, CHGB
26estrogen438.2VHL, CCND1, ANGPT2, CHGB, INHA
27tyrosine437.8PNMT, INHA, CHGB, ANGPT2, CCND1, VHL

GO Terms for genes affiliated with Von Hippel-Lindau Syndrome

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Cellular components related to Von Hippel-Lindau Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial respiratory chain complex IIGO:00057499.4SDHC, SDHD

Biological processes related to Von Hippel-Lindau Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1respiratory electron transport chainGO:00229049.4SDHC, SDHD
2tricarboxylic acid cycleGO:00060999.3SDHC, SDHD
3organ regenerationGO:00311009.2CCND1, ANGPT2

Molecular functions related to Von Hippel-Lindau Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1succinate dehydrogenase activityGO:00001049.3SDHC, SDHD
2hormone activityGO:00051799.2CHGB, INHA
3electron carrier activityGO:00090559.1SDHC, SDHD

Products for genes affiliated with Von Hippel-Lindau Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Von Hippel-Lindau Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet