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VHLD
MCID: VNH007
MIFTS: 72

Von Hippel-Lindau Syndrome (VHLD)

Categories: Cancer diseases, Cardiovascular diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Von Hippel-Lindau Syndrome

About this section

MalaCards integrated aliases for Von Hippel-Lindau Syndrome:

Name: Von Hippel-Lindau Syndrome 57 12 24 53 25 59 75 37 29 13 6 40 73
Von Hippel-Lindau Disease 12 76 24 53 25 54 59 75 55 43 44 15
Vhl Syndrome 24 53 25
Vhl 57 53 59
Von Hippel-Lindau Syndrome, Modifier of 57 6
Cerebelloretinal Angiomatosis, Familial 25
Familial Cerebelloretinal Angiomatosis 59
Von Hippellindau Disease 76
Hippel Lindau Syndrome 12
Hippel-Lindau Disease 25
Angiomatosis Retinae 25
Von Hippel-Lindau 29
Lindau Disease 59
Vhld 75

Characteristics:

Orphanet epidemiological data:

59
von hippel-lindau disease
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (United Kingdom); Age of onset: Adult; Age of death: elderly;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
incidence of 1 in 39,000
highly variable phenotype, even within families
vhl type 1 - renal carcinoma and hemangioblastoma
vhl type 2a - hemangioblastoma and pheochromocytoma
vhl type 2b - renal carcinoma and pheochromocytoma
vhl type 2c - pheochromocytoma only


HPO:

32
von hippel-lindau syndrome:
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Vhl pathogenic variants are highly penetrant. almost all individuals who have a pathogenic variant in vhl are symptomatic by age 65 years [maher et al 1991]...

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Cancer diseases
Anatomical: Neuronal diseases Eye diseases Cardiovascular diseases Nephrological diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare neurological diseases
Rare eye diseases
Rare circulatory system diseases
Rare renal diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Von Hippel-Lindau Syndrome

About this section
MedlinePlus : 43 What is Von Hippel-Lindau disease (VHL)? Von Hippel-Lindau disease (VHL) is a rare disease that causes tumors and cysts to grow in your body. They can grow in your brain and spinal cord, kidneys, pancreas, adrenal glands, and reproductive tract. The tumors are usually benign (non-cancerous). But some tumors, such as those in the kidney and pancreas, can become cancerous. What causes Von Hippel-Lindau disease (VHL)? Von Hippel-Lindau disease (VHL) is a genetic disease. It is inherited, which means that it is passed down from parent to child. What are the symptoms of Von Hippel-Lindau disease (VHL)? Symptoms of VHL 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 High blood pressure How is Von Hippel-Lindau disease (VHL) diagnosed? Detecting and treating VHL early is important. Your health care provider may suspect that you have VHL if you have certain patterns of cysts and tumors. There is a genetic test for VHL. If you have it, you will need other tests, including imaging tests, to look for tumors and cysts. What are the treatments for Von Hippel-Lindau disease (VHL)? Treatment can vary, depending on the location and size of the tumors and cysts. It usually involves surgery. Certain tumors may be treated with radiation therapy. The goal is to treat growths while they are small and before they do permanent damage. You will need to have careful monitoring by a doctor and/or medical team familiar with the disorder. NIH: National Institute of Neurological Disorders and Stroke

MalaCards based summary : Von Hippel-Lindau Syndrome, also known as von hippel-lindau disease, is related to erythrocytosis, familial, 2 and hemangioblastoma, and has symptoms including vertigo and tinnitus. An important gene associated with Von Hippel-Lindau Syndrome is VHL (Von Hippel-Lindau Tumor Suppressor), and among its related pathways/superpathways are Ubiquitin mediated proteolysis and Pathways in cancer. The drugs Sirolimus and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include kidney, testes and adrenal gland, and related phenotypes are hydrocephalus and nystagmus

Genetics Home Reference : 25 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 : 53 Von Hippel-Lindau (VHL) disease is an inherited disorder characterized by the abnormal growth of both benign and cancerous tumors and cysts in many parts of the body. Tumors usually first appear in young adulthood. The types of tumors associated with VHL disease include hemangioblastomas (slow-growing tumors of the central nervous system); kidney cysts and clear cell renal cell carcinoma; pancreatic neuroendocrine tumors; pheochromocytomas (noncancerous tumors of the adrenal glands); and endolymphatic sac tumors. VHL disease is caused by a mutation in the VHL gene and is inherited in an autosomal dominant manner. Early detection and treatment of VHL disease is important, and usually involves surgical removal of tumors.

OMIM : 57 Von Hippel-Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), pheochromocytoma, and pancreatic tumors. Neumann and Wiestler (1991) classified VHL as type 1 (without pheochromocytoma) and type 2 (with pheochromocytoma). Brauch et al. (1995) further subdivided VHL type 2 into type 2A (with pheochromocytoma) and type 2B (with pheochromocytoma and renal cell carcinoma). Hoffman et al. (2001) noted that VHL type 2C refers to patients with isolated pheochromocytoma without hemangioblastoma or renal cell carcinoma. McNeill et al. (2009) proposed that patients with VHL syndrome caused by large VHL deletions that include the HSPC300 gene (C3ORF10; 611183) have a specific subtype of VHL syndrome characterized by protection from renal cell carcinoma, which the authors proposed be named VHL type 1B. Nordstrom-O'Brien et al. (2010) provided a review of the genetics of von Hippel-Lindau disease. (193300)

NINDS : 54 Von Hippel-Lindau disease (VHL) is a rare, genetic multi-system disorder in which non-cancerous tumors grow in certain parts of the body. Slow-growing hemgioblastomas -- benign tumors with many blood vessels -- may develop in the brain, spinal cord, the retinas of the eyes, and near the inner ear. Cysts (fluid-filled sacs) may develop around the hemangioblastomas. Other types of tumors develop in the adrenal glands, the kidneys, or the pancreas. Symptoms of VHL vary among individuals 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, deafness in one ear, and high blood pressure. Individuals with VHL are also at a higher risk than normal for certain types of cancer, especially kidney cancer.

UniProtKB/Swiss-Prot : 75 von Hippel-Lindau disease: VHLD is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign neoplasms, most frequently retinal, cerebellar and spinal hemangioblastoma, renal cell carcinoma (RCC), pheochromocytoma, and pancreatic tumors. VHL type 1 is without pheochromocytoma, type 2 is with pheochromocytoma. VHL type 2 is further subdivided into types 2A (pheochromocytoma, retinal angioma, and hemangioblastomas without renal cell carcinoma and pancreatic cyst) and 2B (pheochromocytoma, retinal angioma, and hemangioblastomas with renal cell carcinoma and pancreatic cyst).

Wikipedia : 76 von Hippel�??Lindau disease (VHL), also known as Familial cerebello retinal angiomatosis, is a rare... more...

GeneReviews: NBK1463
Sources

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 232)
# Related Disease Score Top Affiliating Genes
1 erythrocytosis, familial, 2 33.2 HIF1A VHL
2 hemangioblastoma 33.2 INHA VEGFA VHL
3 pancreatic serous cystadenoma 33.0 CHGA VEGFA VHL
4 hypoxia 32.3 CUL2 HIF1A VEGFA VHL
5 hereditary paraganglioma-pheochromocytoma syndromes 32.3 RET SDHB SDHC SDHD VHL
6 retinal hemangioblastoma 32.2 HIF1A VEGFA VHL
7 sporadic pheochromocytoma 32.0 NF1 RET SDHB SDHC SDHD VHL
8 microcystic adenoma 32.0 INHA VHL
9 clear cell renal cell carcinoma 31.9 ELOB HIF1A VEGFA VHL
10 fumarate hydratase deficiency 31.8 HIF1A VHL
11 acute mountain sickness 31.7 HIF1A VEGFA VHL
12 neurofibromatosis, type iv, of riccardi 31.5 NF1 RET SDHB SDHC SDHD VHL
13 cystadenoma 30.8 CHGA INHA VHL
14 extra-adrenal pheochromocytoma 30.4 PNMT SDHB SDHC SDHD
15 hyperparathyroidism 30.3 CHGA MEN1 RET
16 kidney cancer 30.3 HIF1A VEGFA VHL
17 neuroendocrine tumor 30.3 CHGA CHGB MEN1
18 renal cell carcinoma, nonpapillary 30.3 ELOB HIF1A SDHB TSC2 VEGFA VHL
19 primary hyperparathyroidism 30.2 CCND1 CHGA MEN1 RET
20 paraganglioma 30.2 CHGA NF1 RET SDHB SDHC SDHD
21 multiple endocrine neoplasia 30.2 CHGA MEN1 NF1 PNMT RET SDHB
22 meningioma, familial 30.2 MEN1 NF1 VEGFA
23 tuberous sclerosis 30.1 NF1 TSC2 VHL
24 carcinoid syndrome 30.1 CHGA MEN1 NPY VEGFA
25 hemangioma 30.0 CHGA HIF1A RET VEGFA VHL
26 malignant pheochromocytoma 29.9 CHGA PNMT SDHB
27 thyroid carcinoma, familial medullary 29.9 CHGA CHGB MEN1 RET
28 cowden disease 29.8 CHGA RET SDHB SDHC SDHD TSC2
29 hereditary leiomyomatosis and renal cell cancer 29.8 HIF1A SDHB
30 thyroid cancer, nonmedullary, 2 29.6 CHGA MEN1 RET
31 pheochromocytoma 29.5 CHGA CHGB HIF1A MEN1 NF1 NPY
32 autosomal recessive secondary polycythemia not associated with vhl gene 12.2
33 endolymphatic sac tumor 11.8
34 polycythemia 11.6
35 hemangioma, capillary infantile 11.5
36 insulinoma 11.5
37 adrenal carcinoma 11.5
38 primary polycythemia 11.5
39 cystic kidney disease 11.5
40 cerebellar angioblastoma 11.1
41 hemangioma of liver 11.1
42 capillary hemangioma 11.1
43 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.5
44 polycystic kidney disease 10.4
45 retinal vascular disease 10.4
46 ovarian cancer 10.4
47 tongue cancer 10.4
48 islet cell tumor 10.3
49 somatostatinoma 10.3
50 lymphoma 10.3

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



Diseases related to Von Hippel-Lindau Syndrome
Sources

Symptoms & Phenotypes for Von Hippel-Lindau Syndrome

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Symptoms via clinical synopsis from OMIM:

57
Endocrine Features:
hypertension
adrenal hemangiomas

Neoplasia:
pheochromocytoma
paraganglioma
pancreatic cancer
hemangioblastoma, sporadic cerebellar (e.g., )
hypernephroma
more
Hematology:
polycythemia

Neurologic Central Nervous System:
cerebellar hemangioblastoma

Respiratory Lung:
pulmonary hemangiomas

Abdomen Pancreas:
multiple pancreatic cysts
pancreatic hemangioblastoma

Head And Neck Ears:
vertigo
tinnitus
endolymphatic sac tumors (elsts)
hearing loss, sensorineural, associated with elsts

Genitourinary Kidneys:
multiple renal cysts
renal hemangioblastoma
renal cell carcinoma (e.g., )

Genitourinary Internal Genitalia Male:
epididymal cyst
bilateral papillary cystadenoma of the epididymis
bilateral papillary cystadenomas of the broad ligament

Head And Neck Eyes:
retinal angiomata

Abdomen Liver:
liver hemangiomas

Neurologic Peripheral Nervous System:
spinal cord hemangioblastoma


Clinical features from OMIM:

193300

Human phenotypes related to Von Hippel-Lindau Syndrome:

59 32 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrocephalus 59 32 frequent (33%) Frequent (79-30%) HP:0000238
2 nystagmus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000639
3 hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0000822
4 hyperhidrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000975
5 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
6 gait disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0001288
7 nausea and vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002017
8 neurological speech impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0002167
9 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
10 increased intracranial pressure 59 32 occasional (7.5%) Occasional (29-5%) HP:0002516
11 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
12 arrhythmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0011675
13 sensory neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0000763
14 hemiplegia/hemiparesis 59 32 frequent (33%) Frequent (79-30%) HP:0004374
15 arteriovenous malformation 59 32 hallmark (90%) Very frequent (99-80%) HP:0100026
16 migraine 59 32 frequent (33%) Frequent (79-30%) HP:0002076
17 aplasia/hypoplasia of the cerebellum 59 32 hallmark (90%) Very frequent (99-80%) HP:0007360
18 abnormality of the retinal vasculature 59 32 hallmark (90%) Very frequent (99-80%) HP:0008046
19 telangiectasia of the skin 59 32 frequent (33%) Frequent (79-30%) HP:0100585
20 multicystic kidney dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0000003
21 polycystic kidney dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0000113
22 glaucoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000501
23 retinal detachment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000541
24 visual loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0000572
25 pancreatic cysts 59 32 hallmark (90%) Very frequent (99-80%) HP:0001737
26 pheochromocytoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002666
27 multiple renal cysts 59 32 occasional (7.5%) Occasional (29-5%) HP:0005562
28 renal cell carcinoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0005584
29 retinal capillary hemangioma 59 32 hallmark (90%) Very frequent (99-80%) HP:0009711
30 papillary cystadenoma of the epididymis 59 32 frequent (33%) Frequent (79-30%) HP:0009715
31 abnormality of the cerebral vasculature 59 32 hallmark (90%) Very frequent (99-80%) HP:0100659
32 visceral angiomatosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100761
33 abnormality of the lymphatic system 59 32 occasional (7.5%) Occasional (29-5%) HP:0100763
34 neoplasm of the middle ear 59 32 occasional (7.5%) Occasional (29-5%) HP:0100799
35 hearing impairment 59 Occasional (29-5%)
36 visual impairment 59 Very frequent (99-80%)
37 neoplasm 59 Occasional (29-5%)
38 vertigo 32 HP:0002321
39 abnormality of the kidney 59 Frequent (79-30%)
40 abnormality of the pancreas 59 Occasional (29-5%)
41 capillary hemangiomas 59 Frequent (79-30%)
42 neuroendocrine neoplasm 59 Occasional (29-5%)
43 vascular neoplasm 59 Very frequent (99-80%)
44 tinnitus 32 HP:0000360
45 neoplasm of the pancreas 32 HP:0002894
46 abnormality of the liver 32 HP:0001392
47 polycythemia 32 HP:0001901
48 paraganglioma 32 HP:0002668
49 epididymal cyst 32 HP:0030424
50 cerebellar hemangioblastoma 32 HP:0006880

UMLS symptoms related to Von Hippel-Lindau Syndrome:


vertigo, tinnitus

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased sensitivity to paclitaxel GR00112-A-0 8.62 NF1 VHL

MGI Mouse Phenotypes related to Von Hippel-Lindau Syndrome:

46 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.38 CCND1 CHGA HIF1A INHA MEN1 NF1
2 homeostasis/metabolism MP:0005376 10.38 CCND1 CHGA CHGB HIF1A INHA MEN1
3 endocrine/exocrine gland MP:0005379 10.34 CCND1 CHGA CHGB HIF1A INHA MEN1
4 growth/size/body region MP:0005378 10.29 CCND1 CHGA HIF1A INHA MEN1 NF1
5 mortality/aging MP:0010768 10.25 CCND1 CHGA HIF1A INHA MEN1 NF1
6 hematopoietic system MP:0005397 10.24 CCND1 HIF1A INHA NF1 RET SDHB
7 digestive/alimentary MP:0005381 10.2 CCND1 HIF1A INHA MEN1 NF1 NPY
8 embryo MP:0005380 10.14 HIF1A MEN1 NF1 RET SDHD TSC2
9 neoplasm MP:0002006 10.11 CCND1 HIF1A INHA MEN1 NF1 RET
10 nervous system MP:0003631 10.1 CCND1 CHGA CHGB HIF1A MEN1 NF1
11 liver/biliary system MP:0005370 10.06 HIF1A INHA MEN1 NF1 NPY TSC2
12 craniofacial MP:0005382 10.03 CCND1 HIF1A MEN1 NF1 VEGFA VHL
13 normal MP:0002873 10.03 CCND1 HIF1A INHA NF1 NPY PNMT
14 muscle MP:0005369 9.95 CHGA HIF1A MEN1 NF1 RET VEGFA
15 renal/urinary system MP:0005367 9.81 CHGA HIF1A NF1 NPY RET SDHB
16 reproductive system MP:0005389 9.56 CCND1 CHGA INHA MEN1 RET TSC2
17 skeleton MP:0005390 9.23 CCND1 HIF1A INHA NF1 NPY SDHC
Sources

Drugs & Therapeutics for Von Hippel-Lindau Syndrome

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Drugs for Von Hippel-Lindau Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 51)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sirolimus Approved, Investigational Phase 3 53123-88-9 46835353 6436030 5284616
2
Everolimus Approved Phase 3 159351-69-6 6442177
3
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
4 Immunologic Factors Phase 3,Phase 1,Phase 2
5 Endothelial Growth Factors Phase 3,Phase 2
6 Mitogens Phase 3,Phase 2
7 tyrosine Phase 3
8 Immunosuppressive Agents Phase 3
9 Anti-Bacterial Agents Phase 3
10 Antibiotics, Antitubercular Phase 3
11 Anti-Infective Agents Phase 3
12 Antifungal Agents Phase 3
13
Sunitinib Approved, Investigational Phase 2,Phase 1 557795-19-4, 341031-54-7 5329102
14
Ranibizumab Approved Phase 1, Phase 2,Phase 2 347396-82-1 459903
15
Somatostatin Approved, Investigational Phase 2 51110-01-1, 38916-34-6 53481605
16
Pancrelipase Approved, Investigational Phase 2 53608-75-6
17
Histidine Approved, Nutraceutical Phase 1, Phase 2 71-00-1 6274
18
Vatalanib Investigational Phase 2 212141-54-3 151194
19 Radiopharmaceuticals Phase 2,Early Phase 1
20 Fluorodeoxyglucose F18 Phase 2
21 Angiogenesis Modulating Agents Phase 2,Phase 1,Not Applicable,Early Phase 1
22 Angiogenesis Inhibitors Phase 2,Phase 1,Not Applicable,Early Phase 1
23 Protein Kinase Inhibitors Phase 2,Not Applicable
24 Pharmaceutical Solutions Phase 1, Phase 2
25 pancreatin Phase 2
26 Freund's Adjuvant Phase 2
27 Adjuvants, Immunologic Phase 2
28 Vaccines Phase 2
29
Bevacizumab Approved, Investigational Phase 1,Not Applicable,Early Phase 1 216974-75-3
30
Vorinostat Approved, Investigational Phase 1 149647-78-9 5311
31 Antibodies, Monoclonal Phase 1,Not Applicable
32 Antibodies Phase 1,Not Applicable
33 Immunoglobulins Phase 1,Not Applicable
34 Histone Deacetylase Inhibitors Phase 1
35
Nicotinamide Approved, Investigational Not Applicable 98-92-0 936
36
Sorafenib Approved, Investigational Not Applicable 284461-73-0 216239 406563
37
Octreotide Approved, Investigational Early Phase 1 83150-76-9 383414 6400441
38
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
39
Niacin Approved, Investigational, Nutraceutical Not Applicable 59-67-6 938
40 Vitamin B Complex Not Applicable
41 Vitamin B9 Not Applicable
42 Trace Elements Not Applicable
43 Vitamins Not Applicable
44 Nicotinic Acids Not Applicable
45 Micronutrients Not Applicable
46 Vitamin B3 Not Applicable
47 Folate Not Applicable
48 Gastrointestinal Agents Early Phase 1
49 Antineoplastic Agents, Hormonal Early Phase 1
50 Edotreotide Early Phase 1

Interventional clinical trials:

(show all 40)
# Name Status NCT ID Phase Drugs
1 Use of Tracking Devices to Locate Abnormalities During Invasive Procedures Recruiting NCT00102544 Phase 3
2 A Study of Cabozantinib (XL184) vs Everolimus in Subjects With Metastatic Renal Cell Carcinoma Active, not recruiting NCT01865747 Phase 3 Cabozantinib tablets;Everolimus (Afinitor) tablets
3 17AAG to Treat Kidney Tumors in Von Hippel-Lindau Disease Completed NCT00088374 Phase 2 17 allylamino-17-demethoxygeldanamycin;18 FDG (Fludeoxyglucose 18F);[15-O] H2O;EPL diluent
4 Study of Sunitinib in Patients With Von Hippel-Lindau (VHL) Disease Completed NCT01168440 Phase 2 Sunitinib
5 Treatment of Von Hippel-Lindau (VHL)-Related Hemangioblastoma With PTK787/ZK 222584 Completed NCT00052013 Phase 2 PTK787/ZK 222584
6 Phase II Study of Vandetanib in Individuals With Kidney Cancer Completed NCT00566995 Phase 2 ZACTIMA (Vandetanib) (ZD6474)
7 Metabolic Mapping to Measure Retinal Metabolism Completed NCT00385333 Phase 2
8 pazopanib_NCRCC,Ph2 STUDY Completed NCT01538238 Phase 2 pazopanib
9 Treatment of Exudative and Vasogenic Chorioretinal Diseases Including Variants of AMD and Other CNV Related Maculopathy Completed NCT00470977 Phase 1, Phase 2 ranibizumab injection (0.5 mg)
10 A Phase 2 Study of PT2977 for the Treatment of Von Hippel Lindau Disease-Associated Renal Cell Carcinoma Recruiting NCT03401788 Phase 2 PT2977
11 Pazopanib in Von Hippel-Lindau (VHL) Syndrome Active, not recruiting NCT01436227 Phase 2 Pazopanib
12 A Phase I/II Trial for Intravitreous Treatment of Severe Ocular Von Hippel-Lindau Disease Using a Combination of the PDGF Antagonist E10030 and the VEGF Antagonist Ranibizumab Active, not recruiting NCT02859441 Phase 1, Phase 2 Ranibizumab;E10030
13 PT2385 for the Treatment of Von Hippel-Lindau Disease-Associated Clear Cell Renal Cell Carcinoma Active, not recruiting NCT03108066 Phase 2 PT2385 Tablets
14 Evaluation of 68Gallium-DOTATATE PET/CT for Detecting Neuroendocrine Tumors Active, not recruiting NCT01967537 Phase 2 68Gallium DOTATATE
15 Sunitinib Malate to Treat Advanced Eye Disease in Patients With Von Hippel-Lindau Syndrome Terminated NCT00673816 Phase 1, Phase 2 Sunitinib Malate
16 Evaluation of Sunitinib Malate in Patients With Von Hippel-Lindau Syndrome (VHL) Who Have VHL Lesions to Follow Terminated NCT00330564 Phase 2 SU011248
17 TKI 258 in Von Hippel-Lindau Syndrome (VHL) Terminated NCT01266070 Phase 2 Dovitinib
18 Vaccine Therapy With Tumor Specific Mutated VHL Peptides in Adult Cancer Patients With Renal Cell Carcinoma Terminated NCT00001703 Phase 2
19 Vandetanib to Treat Advanced Kidney Cancer Terminated NCT01372813 Phase 2 vandetanib
20 Imaging Studies of Kidney Cancer Using 18F-VM4-037 Terminated NCT01712685 Phase 2 18F-VM4-037
21 Ranibizumab Injections to Treat Retinal Tumors in Patients With Von Hippel-Lindau Syndrome Completed NCT00089765 Phase 1 Ranibizumab
22 EYE001 to Treat Retinal Tumors in Patients With Von Hippel-Lindau Syndrome Completed NCT00056199 Phase 1 EYE001
23 Effect of Vorinostat on Nervous System Hemangioblastomas in Von Hippel-Lindau Disease (Missense Mutation Only) Completed NCT02108002 Phase 1 Vorinostat
24 Assessment of Residual VHL Function in Tumors - Can it Predict the Patients' Individual Course of Disease? Unknown status NCT02207686
25 Psychosocial Consequences of the Screening of Von Hippel Lindau Diseases for Patients Operated for a hémangioblastoma of Nervous Centrasl System Unknown status NCT02120040 Not Applicable
26 Genetic Study to Identify Gene Mutations in Participants Previously Enrolled in Clinical Trial NCI-99-C-0053 Who Have Von Hippel-Lindau Syndrome or Are at Risk for Von Hippel-Lindau Syndrome Completed NCT00075348
27 Visualizing Vascular Endothelial Growth Factor (VEGF) Producing Lesions in Von Hippel-Lindau Disease Completed NCT00970970
28 Natural History and Management of Pancreatic Lesions in Von Hippel-Lindau Disease Completed NCT00062166
29 Endolymphatic Sac Tumors in a Population of Patients With Von Hippel-Lindau Disease:The Natural History and Pathobiology, and a Prospective Non-Randomized Clinical Trial of Hearing Preservation Surgery in Patients With Early Stage Endolymphatic Sac Tumors Completed NCT00001668
30 Effect of Sorafenib on ccRCC Uptake of Radiolabeled Bevacizumab or cG250 Completed NCT00602862 Not Applicable Sorafenib;111Indium-bevacizumab;111Indium-cG250
31 Screening for Endolymphatic Sac Tumours (ELSTs) in Von Hippel-Lindau (vHL) Patients Recruiting NCT02420067
32 National Eye Institute Biorepository for Retinal Diseases Recruiting NCT01496625
33 MyVHL: Patient Natural History Study Recruiting NCT03749980
34 Clinical Manifestations and Molecular Bases of Heritable Urologic Malignant Disorders Recruiting NCT00001238
35 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
36 Von Hippel-Lindau Disease Genetic Epidemiology Study Active, not recruiting NCT00001803
37 Study of Brain and Spinal Cord Tumor Growth and Cyst Development in Patients With Von Hippel Lindau Disease Active, not recruiting NCT00005902
38 68Ga-DOTA-TOC PET/CT in Imaging Participants With Neuroendocrine Tumors Active, not recruiting NCT03001349 Early Phase 1 Gallium Ga 68-Edotreotide
39 Ruxolitinib for Chuvash Polycythemia No longer available NCT01730755 Ruxolitinib
40 Bevacizumab (Avastin) in Unresectable/Recurrent Hemangioblastoma From Von-Hippel-Lindau Disease Terminated NCT01015300 Early Phase 1 Avastin

Search NIH Clinical Center for Von Hippel-Lindau Syndrome

Cochrane evidence based reviews: von hippel-lindau disease

Sources

Genetic Tests for Von Hippel-Lindau Syndrome

About this section

Genetic tests related to Von Hippel-Lindau Syndrome:

# Genetic test Affiliating Genes
1 Von Hippel-Lindau Syndrome 29 CCND1 VHL
2 Von Hippel-Lindau 29
Sources

Anatomical Context for Von Hippel-Lindau Syndrome

About this section

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

41
Kidney, Testes, Adrenal Gland, Pancreas, Spinal Cord, Brain, Retina
Sources

Publications for Von Hippel-Lindau Syndrome

About this section

Articles related to Von Hippel-Lindau Syndrome:

(show top 50) (show all 501)
# Title Authors Year
1
Tumors in von Hippel-Lindau Syndrome: From Head to Toe-Comprehensive State-of-the-Art Review. ( 29601266 )
2018
2
Pedigree analysis, diagnosis and treatment in Von Hippel-Lindau syndrome: A report of three cases. ( 29616089 )
2018
3
Tumors in von Hippel-Lindau Syndrome: From Head to Toe-Comprehensive State-of-the-Art Review. ( 29757728 )
2018
4
Retinal capillary hemangioma and von Hippel-Lindau disease. ( 30139593 )
2018
5
Two Childhood Pheochromocytoma Cases due to von Hippel-Lindau Disease, One Associated with Pancreatic Neuroendocrine Tumor: A Very Rare Manifestation ( 29022557 )
2018
6
Association of VHL Genotype With Pancreatic Neuroendocrine Tumor Phenotype in Patients With von Hippel-Lindau Disease. ( 29075773 )
2018
7
A pediatric case of pheochromocytoma without apparent hypertension associated with von Hippel-Lindau disease. ( 29662268 )
2018
8
Metastatic Pheochromocytoma in an Asymptomatic 12-Year-Old With von Hippel-Lindau Disease. ( 29545044 )
2018
9
Molecular-genetic diagnostics of von Hippel-Lindau syndrome (VHL) in Bulgaria: first complex mutation event in the VHL gene. ( 28849724 )
2018
10
Unsuspected Von Hippel-Lindau syndrome in acute-onset resistant hypertension. ( 30042107 )
2018
11
Effect of clarithromycin in von Hippel-Lindau syndrome: a case report. ( 30178691 )
2018
12
Epiglottic cyst in von Hippel-Lindau syndrome: Shared pathology or a separate entity? ( 30386035 )
2018
13
Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease. ( 29891534 )
2018
14
Effect of intravitreal dexamethasone on macular edema in von Hippel-Lindau disease assessed using swept-source optical coherence tomography: a case report. ( 30185211 )
2018
15
Triple pancreatic lesion in a patient with Von Hippel-Lindau disease. ( 28882614 )
2018
16
In silico VHL Gene Mutation Analysis and Prognosis of Pancreatic Neuroendocrine Tumors in von Hippel-Lindau Disease. ( 29294023 )
2018
17
Risk factors for survival in patients with von Hippel-Lindau disease. ( 29330336 )
2018
18
Review of the Neurological Implications of von Hippel-Lindau Disease. ( 29379961 )
2018
19
Variable response of CNS hemangioblastomas to Pazopanib in a single patient with von Hippel-Lindau disease: Case report. ( 29396065 )
2018
20
Renal Cell Carcinoma in von Hippel-Lindau Disease-From Tumor Genetics to Novel Therapeutic Strategies. ( 29479523 )
2018
21
An Advanced Well-differentiated Pancreatic Neuroendocrine Carcinoma (NET-G3) Associated with Von Hippel-Lindau Disease. ( 29491307 )
2018
22
von Hippel-Lindau disease: Diagnosis and factors influencing disease outcome. ( 29510814 )
2018
23
Germline VHL gene variant in patients with von Hippel-Lindau disease does not predict renal tumor growth. ( 29525880 )
2018
24
Falcine meningioma in Von Hippel-Lindau disease: An unusual association. ( 29527395 )
2018
25
Genotype and phenotype correlation in von Hippel-Lindau disease based on alteration of the HIF-α binding site in VHL protein. ( 29595810 )
2018
26
Preventive medicine of von Hippel-Lindau disease-associated pancreatic neuroendocrine tumors. ( 29748190 )
2018
27
Paediatric pancreatic neuroendocrine tumours in von Hippel-Lindau disease. ( 29752349 )
2018
28
Pilot study of dovitinib in patients with von Hippel-Lindau disease. ( 29805741 )
2018
29
Novel genotype-phenotype correlations in five Chinese families with Von Hippel-Lindau disease. ( 29871882 )
2018
30
Hepatobiliary and Pancreatic: Pancreatic mixed serous neuroendocrine neoplasm in von Hippel-Lindau disease. ( 29888404 )
2018
31
A retrospective case study of sunitinib treatment in three patients with Von Hippel-Lindau disease. ( 29947576 )
2018
32
Characterization of VHL promoter variants in patients suspected of Von Hippel-Lindau disease. ( 30006056 )
2018
33
Integrative analysis of dysregulated microRNAs and mRNAs in multiple recurrent synchronized renal tumors from patients with von Hippel-Lindau disease. ( 30066860 )
2018
34
Teaching NeuroImages: CNS hemangioblastomas in von Hippel-Lindau disease with exon 3 deletion. ( 30082448 )
2018
35
Pazopanib in patients with von Hippel-Lindau disease: a single-arm, single-centre, phase 2 trial. ( 30236511 )
2018
36
The first prospective trial for von Hippel-Lindau disease: pazopanib. ( 30236512 )
2018
37
Peripheral retinal nonperfusion using widefield imaging with von Hippel-Lindau disease. ( 30305932 )
2018
38
Von hippel lindau disease revealed by bilateral renal tumor. ( 30430496 )
2018
39
A novel mutation in the VHL gene in a Chinese family with von Hippel-Lindau disease. ( 30477447 )
2018
40
Repurposing propranolol as an antitumor agent in von Hippel-Lindau disease. ( 30497198 )
2018
41
68Ga-DOTA-TOC PET/CT of von Hippel-Lindau Disease. ( 30516678 )
2018
42
EARLY DETECTION OF RETINAL HEMANGIOBLASTOMAS IN VON HIPPEL-LINDAU DISEASE USING ULTRA-WIDEFIELD FLUORESCEIN ANGIOGRAPHY. ( 28368975 )
2018
43
Von Hippel-Lindau disease: a single gene, several hereditary tumors. ( 28589383 )
2018
44
Identification of a VHL gene mutation in a Chinese family with Von Hippel‑Lindau syndrome. ( 29749453 )
2018
45
Treatment of multiple synchronous misdiagnosed renal cell cancers in a young patient affected by a "de novo" Von Hippel-Lindau syndrome. ( 28256701 )
2017
46
A Family with Von Hippel-Lindau Syndrome: The Findings of Indium-111 Somatostatin Receptor Scintigraphy, Iodine-123 Metaiodobenzylguanidine Scintigraphy and Single Photon Emission Computerized Tomography. ( 28291009 )
2017
47
Von Hippel Lindau Syndrome ( 29083737 )
2017
48
A Review of Von Hippel-Lindau Syndrome. ( 28785532 )
2017
49
Bilateral quadratus lumborum block for postoperative analgesia in a Von Hippel-Lindau syndrome patient undergoing laparoscopic radical nephrectomy. ( 29033750 )
2017
50
Radiofrequency Ablation for Renal Cancer in Von Hippel-Lindau Syndrome Patients: A Prospective Cohort Analysis. ( 28866246 )
2017
Sources

Variations for Von Hippel-Lindau Syndrome

About this section

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

75 (show top 50) (show all 104)
# Symbol AA change Variation ID SNP ID
1 VHL p.Ser38Pro VAR_005670
2 VHL p.Glu52Lys VAR_005671 rs373068386
3 VHL p.Ser65Leu VAR_005672 rs5030826
4 VHL p.Ser65Trp VAR_005673 rs5030826
5 VHL p.Ser68Trp VAR_005675
6 VHL p.Glu70Lys VAR_005676 rs5030802
7 VHL p.Val74Gly VAR_005677 rs5030803
8 VHL p.Phe76Ile VAR_005679
9 VHL p.Phe76Leu VAR_005680
10 VHL p.Phe76Ser VAR_005681 rs730882033
11 VHL p.Asn78His VAR_005682
12 VHL p.Asn78Ser VAR_005683 rs5030804
13 VHL p.Asn78Thr VAR_005684 rs5030804
14 VHL p.Arg79Pro VAR_005685
15 VHL p.Ser80Ile VAR_005686 rs5030805
16 VHL p.Ser80Arg VAR_005687
17 VHL p.Ser80Asn VAR_005688 rs5030805
18 VHL p.Pro81Ser VAR_005689 rs104893829
19 VHL p.Arg82Pro VAR_005690 rs794726890
20 VHL p.Val84Leu VAR_005692 rs5030827
21 VHL p.Pro86Ala VAR_005693 rs398123481
22 VHL p.Pro86Leu VAR_005694 rs730882034
23 VHL p.Pro86Arg VAR_005695 rs730882034
24 VHL p.Pro86Ser VAR_005696 rs398123481
25 VHL p.Trp88Arg VAR_005697
26 VHL p.Trp88Ser VAR_005698 rs119103277
27 VHL p.Leu89Pro VAR_005700 rs5030807
28 VHL p.Gly93Cys VAR_005703 rs5030808
29 VHL p.Gly93Asp VAR_005704
30 VHL p.Gly93Ser VAR_005705 rs5030808
31 VHL p.Gln96Pro VAR_005706
32 VHL p.Tyr98His VAR_005707 rs5030809
33 VHL p.Leu101Gly VAR_005708
34 VHL p.Leu101Arg VAR_005709
35 VHL p.Thr105Pro VAR_005711
36 VHL p.Arg107Pro VAR_005713 rs193922609
37 VHL p.Ser111Cys VAR_005714
38 VHL p.Ser111Asn VAR_005715 rs869025631
39 VHL p.Ser111Arg VAR_005716 rs765978945
40 VHL p.Tyr112His VAR_005717 rs104893824
41 VHL p.Gly114Cys VAR_005718
42 VHL p.Gly114Arg VAR_005719 rs869025636
43 VHL p.Gly114Ser VAR_005720
44 VHL p.His115Tyr VAR_005722 rs5030811
45 VHL p.His115Gln VAR_005723
46 VHL p.Leu116Val VAR_005724
47 VHL p.Trp117Cys VAR_005725 rs727504215
48 VHL p.Leu118Pro VAR_005726 rs5030830
49 VHL p.Leu118Arg VAR_005727
50 VHL p.Phe119Leu VAR_005728

ClinVar genetic disease variations for Von Hippel-Lindau Syndrome:

6 (show top 50) (show all 1081)
# Gene Variation Type Significance SNP ID Assembly Location
1 VHL NM_000551.3(VHL): c.223_225delATC (p.Ile75del) deletion Pathogenic rs794729660 GRCh37 Chromosome 3, 10183754: 10183756
2 VHL NM_000551.3(VHL): c.223_225delATC (p.Ile75del) deletion Pathogenic rs794729660 GRCh38 Chromosome 3, 10142070: 10142072
3 VHL NM_000551.3(VHL): c.548C> A (p.Ser183Ter) single nucleotide variant Pathogenic rs5030823 GRCh37 Chromosome 3, 10191555: 10191555
4 VHL NM_000551.3(VHL): c.548C> A (p.Ser183Ter) single nucleotide variant Pathogenic rs5030823 GRCh38 Chromosome 3, 10149871: 10149871
5 VHL NM_000551.3(VHL): c.500G> A (p.Arg167Gln) single nucleotide variant Pathogenic rs5030821 GRCh37 Chromosome 3, 10191507: 10191507
6 VHL NM_000551.3(VHL): c.500G> A (p.Arg167Gln) single nucleotide variant Pathogenic rs5030821 GRCh38 Chromosome 3, 10149823: 10149823
7 VHL NM_000551.3(VHL): c.481C> T (p.Arg161Ter) single nucleotide variant Pathogenic rs5030818 GRCh37 Chromosome 3, 10191488: 10191488
8 VHL NM_000551.3(VHL): c.481C> T (p.Arg161Ter) single nucleotide variant Pathogenic rs5030818 GRCh38 Chromosome 3, 10149804: 10149804
9 VHL NM_000551.3(VHL): c.499C> T (p.Arg167Trp) single nucleotide variant Pathogenic rs5030820 GRCh37 Chromosome 3, 10191506: 10191506
10 VHL NM_000551.3(VHL): c.499C> T (p.Arg167Trp) single nucleotide variant Pathogenic rs5030820 GRCh38 Chromosome 3, 10149822: 10149822
11 VHL NM_000551.3(VHL): c.499C> G (p.Arg167Gly) single nucleotide variant Likely pathogenic rs5030820 GRCh37 Chromosome 3, 10191506: 10191506
12 VHL NM_000551.3(VHL): c.499C> G (p.Arg167Gly) single nucleotide variant Likely pathogenic rs5030820 GRCh38 Chromosome 3, 10149822: 10149822
13 VHL NM_000551.3(VHL): c.263G> C (p.Trp88Ser) single nucleotide variant Pathogenic rs119103277 GRCh37 Chromosome 3, 10183794: 10183794
14 VHL NM_000551.3(VHL): c.263G> C (p.Trp88Ser) single nucleotide variant Pathogenic rs119103277 GRCh38 Chromosome 3, 10142110: 10142110
15 VHL NM_000551.3(VHL): c.334T> C (p.Tyr112His) single nucleotide variant Pathogenic rs104893824 GRCh37 Chromosome 3, 10183865: 10183865
16 VHL NM_000551.3(VHL): c.334T> C (p.Tyr112His) single nucleotide variant Pathogenic rs104893824 GRCh38 Chromosome 3, 10142181: 10142181
17 VHL NM_000551.3(VHL): c.292T> C (p.Tyr98His) single nucleotide variant Pathogenic rs5030809 GRCh37 Chromosome 3, 10183823: 10183823
18 VHL NM_000551.3(VHL): c.292T> C (p.Tyr98His) single nucleotide variant Pathogenic rs5030809 GRCh38 Chromosome 3, 10142139: 10142139
19 VHL NM_000551.3(VHL): c.496G> T (p.Val166Phe) single nucleotide variant Pathogenic rs104893825 GRCh37 Chromosome 3, 10191503: 10191503
20 VHL NM_000551.3(VHL): c.496G> T (p.Val166Phe) single nucleotide variant Pathogenic rs104893825 GRCh38 Chromosome 3, 10149819: 10149819
21 VHL NM_000551.3(VHL): c.562C> G (p.Leu188Val) single nucleotide variant Conflicting interpretations of pathogenicity rs5030824 GRCh37 Chromosome 3, 10191569: 10191569
22 VHL NM_000551.3(VHL): c.562C> G (p.Leu188Val) single nucleotide variant Conflicting interpretations of pathogenicity rs5030824 GRCh38 Chromosome 3, 10149885: 10149885
23 VHL NM_000551.3(VHL): c.191G> C (p.Arg64Pro) single nucleotide variant Pathogenic/Likely pathogenic rs104893826 GRCh37 Chromosome 3, 10183722: 10183722
24 VHL NM_000551.3(VHL): c.191G> C (p.Arg64Pro) single nucleotide variant Pathogenic/Likely pathogenic rs104893826 GRCh38 Chromosome 3, 10142038: 10142038
25 VHL NM_000551.3(VHL): c.188T> C (p.Leu63Pro) single nucleotide variant Uncertain significance rs104893827 GRCh37 Chromosome 3, 10183719: 10183719
26 VHL NM_000551.3(VHL): c.188T> C (p.Leu63Pro) single nucleotide variant Uncertain significance rs104893827 GRCh38 Chromosome 3, 10142035: 10142035
27 VHL NM_000551.3(VHL): c.334T> A (p.Tyr112Asn) single nucleotide variant Pathogenic rs104893824 GRCh37 Chromosome 3, 10183865: 10183865
28 VHL NM_000551.3(VHL): c.334T> A (p.Tyr112Asn) single nucleotide variant Pathogenic rs104893824 GRCh38 Chromosome 3, 10142181: 10142181
29 VHL NM_000551.3(VHL): c.388G> C (p.Val130Leu) single nucleotide variant Pathogenic rs104893830 GRCh37 Chromosome 3, 10188245: 10188245
30 VHL NM_000551.3(VHL): c.388G> C (p.Val130Leu) single nucleotide variant Pathogenic rs104893830 GRCh38 Chromosome 3, 10146561: 10146561
31 VHL NM_000551.3(VHL): c.598C> T (p.Arg200Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs28940298 GRCh37 Chromosome 3, 10191605: 10191605
32 VHL NM_000551.3(VHL): c.598C> T (p.Arg200Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs28940298 GRCh38 Chromosome 3, 10149921: 10149921
33 VHL NM_000551.3(VHL): c.241C> T (p.Pro81Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs104893829 GRCh37 Chromosome 3, 10183772: 10183772
34 VHL NM_000551.3(VHL): c.241C> T (p.Pro81Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs104893829 GRCh38 Chromosome 3, 10142088: 10142088
35 VHL NM_000551.3(VHL): c.574C> T (p.Pro192Ser) single nucleotide variant Uncertain significance rs28940300 GRCh37 Chromosome 3, 10191581: 10191581
36 VHL NM_000551.3(VHL): c.574C> T (p.Pro192Ser) single nucleotide variant Uncertain significance rs28940300 GRCh38 Chromosome 3, 10149897: 10149897
37 VHL NM_000551.3(VHL): c.250G> T (p.Val84Leu) single nucleotide variant Pathogenic rs5030827 GRCh37 Chromosome 3, 10183781: 10183781
38 VHL NM_000551.3(VHL): c.250G> T (p.Val84Leu) single nucleotide variant Pathogenic rs5030827 GRCh38 Chromosome 3, 10142097: 10142097
39 VHL NM_000551.3(VHL): c.277G> A (p.Gly93Ser) single nucleotide variant Pathogenic rs5030808 GRCh37 Chromosome 3, 10183808: 10183808
40 VHL NM_000551.3(VHL): c.277G> A (p.Gly93Ser) single nucleotide variant Pathogenic rs5030808 GRCh38 Chromosome 3, 10142124: 10142124
41 VHL NM_000551.3(VHL): c.491A> G (p.Gln164Arg) single nucleotide variant Pathogenic rs267607170 GRCh37 Chromosome 3, 10191498: 10191498
42 VHL NM_000551.3(VHL): c.491A> G (p.Gln164Arg) single nucleotide variant Pathogenic rs267607170 GRCh38 Chromosome 3, 10149814: 10149814
43 CCND1 NM_053056.2(CCND1): c.723G> A (p.Pro241=) single nucleotide variant risk factor rs9344 GRCh37 Chromosome 11, 69462910: 69462910
44 CCND1 NM_053056.2(CCND1): c.723G> A (p.Pro241=) single nucleotide variant risk factor rs9344 GRCh38 Chromosome 11, 69648142: 69648142
45 VHL NM_000551.3(VHL): c.242C> T (p.Pro81Leu) single nucleotide variant Likely pathogenic rs193922608 GRCh37 Chromosome 3, 10183773: 10183773
46 VHL NM_000551.3(VHL): c.242C> T (p.Pro81Leu) single nucleotide variant Likely pathogenic rs193922608 GRCh38 Chromosome 3, 10142089: 10142089
47 VHL NM_000551.3(VHL): c.320G> C (p.Arg107Pro) single nucleotide variant Pathogenic/Likely pathogenic rs193922609 GRCh37 Chromosome 3, 10183851: 10183851
48 VHL NM_000551.3(VHL): c.320G> C (p.Arg107Pro) single nucleotide variant Pathogenic/Likely pathogenic rs193922609 GRCh38 Chromosome 3, 10142167: 10142167
49 VHL NM_000551.3(VHL): c.340+5G> C single nucleotide variant Benign/Likely benign rs61758376 GRCh37 Chromosome 3, 10183876: 10183876
50 VHL NM_000551.3(VHL): c.340+5G> C single nucleotide variant Benign/Likely benign rs61758376 GRCh38 Chromosome 3, 10142192: 10142192

Cosmic variations for Von Hippel-Lindau Syndrome:

9 (show top 50) (show all 2186)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)		 Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM14283 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.491A>G p.Q164R 3:10149814-10149814 15
2 COSM17662 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.492G>T p.Q164H 3:10149815-10149815 15
3 COSM14321 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.227T>A p.F76Y 3:10142074-10142074 15
4 COSM6444479 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.260T>C p.V87A 3:10142107-10142107 15
5 COSM144975 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.475A>G p.K159E 3:10149798-10149798 15
6 COSM100047 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.389T>G p.V130G 3:10146562-10146562 15
7 COSM966 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.1900T>C p.C634R 10:43114500-43114500 15
8 COSM965 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.2753T>C p.M918T 10:43121968-43121968 15
9 COSM220089 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1885G>A p.Q616fs*4 17:31225134-31225134 15
10 COSM329092 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1721+3A>T p.A548fs*13 17:31221932-31221932 15
11 COSM30670 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7646C>G p.S2549* 17:31356490-31356490 15
12 COSM329090 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.226G>T p.E76* 17:31159031-31159031 15
13 COSM5885098 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.5665G>T p.E1889* 17:31330351-31330351 15
14 COSM329093 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1722-1G>A p.? 17:31223443-31223443 15
15 COSM329089 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1466A>G p.Y489C 17:31214524-31214524 15
16 COSM327926 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.3158C>A p.S1053* 17:31230886-31230886 15
17 COSM327927 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7582C>T p.Q2528* 17:31352381-31352381 15
18 COSM33676 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.6855C>A p.Y2285* 17:31338739-31338739 15
19 COSM1710108 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7300C>T p.Q2434* 17:31349230-31349230 15
20 COSM330588 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.2409+1G>A p.A776_Q803del 17:31227607-31227607 15
21 COSM330587 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.205-1G>C p.R69fs*7 17:31159009-31159009 15
22 COSM5946188 MET adrenal gland,adrenal gland,pheochromocytoma,benign c.352A>T p.M118L 7:116699436-116699436 15
23 COSM707 MET adrenal gland,adrenal gland,pheochromocytoma,benign c.3029C>T p.T1010I 7:116771936-116771936 15
24 COSM5967149 MET adrenal gland,adrenal gland,pheochromocytoma,benign c.607T>A p.S203T 7:116699691-116699691 15
25 COSM496 HRAS adrenal gland,adrenal gland,pheochromocytoma,benign c.181C>A p.Q61K 11:533875-533875 15
26 COSM499 HRAS adrenal gland,adrenal gland,pheochromocytoma,benign c.182A>G p.Q61R 11:533874-533874 15
27 COSM486 HRAS adrenal gland,adrenal gland,pheochromocytoma,benign c.37G>C p.G13R 11:534286-534286 15
28 COSM1732355 H3F3A adrenal gland,adrenal gland,pheochromocytoma,benign c.103G>T p.G35W 1:226064454-226064454 15
29 COSM19176 FGFR1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1638C>A p.N546K 8:38417331-38417331 15
30 COSM6188660 EPAS1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1592C>T p.P531L 2:46380264-46380264 15
31 COSM6196778 EPAS1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1104G>A p.M368I 2:46376608-46376608 15
32 COSM6196613 EPAS1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1589C>A p.A530E 2:46380261-46380261 15
33 COSM6188649 EPAS1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1595A>G p.Y532C 2:46380267-46380267 15
34 COSM17666 VHL adrenal gland,adrenal gland,pheochromocytoma,malignant c.593T>C p.L198P 3:10149916-10149916 12
35 COSM144972 VHL adrenal gland,NS,pheochromocytoma,benign c.245G>T p.R82L 3:10142092-10142092 12
36 COSM5885100 VHL adrenal gland,adrenal gland,pheochromocytoma,malignant c.250G>A p.V84M 3:10142097-10142097 12
37 COSM144971 VHL adrenal gland,NS,pheochromocytoma,benign c.244C>G p.R82G 3:10142091-10142091 12
38 COSM329087 NF1 adrenal gland,adrenal gland,pheochromocytoma,malignant c.4558C>T p.Q1520* 17:31260496-31260496 12
39 COSM3402726 NF1 adrenal gland,NS,pheochromocytoma,benign c.1307C>A p.S436* 17:31206286-31206286 12
40 COSM24441 NF1 adrenal gland,adrenal gland,pheochromocytoma,malignant c.3721C>T p.R1241* 17:31235623-31235623 12
41 COSM6476262 EPAS1 adrenal gland,NS,pheochromocytoma,benign c.1601C>T p.P534L 2:46380273-46380273 12
42 COSM6941466 XIAP kidney,NS,carcinoma,renal cell carcinoma c.563G>C p.G188A 23:123886225-123886225 9
43 COSM14312 VHL kidney,NS,carcinoma,renal cell carcinoma c.353T>C p.L118P 3:10146526-10146526 9
44 COSM17957 VHL kidney,NS,carcinoma,renal cell carcinoma c.292T>G p.Y98D 3:10142139-10142139 9
45 COSM14382 VHL kidney,NS,carcinoma,renal cell carcinoma c.245G>C p.R82P 3:10142092-10142092 9
46 COSM25676 VHL kidney,NS,carcinoma,renal cell c.485G>T p.C162F 3:10149808-10149808 9
47 COSM27269 UMPS kidney,NS,carcinoma,renal cell c.528G>A p.L176L 3:124737785-124737785 9
48 COSM6957851 TSC2 kidney,NS,carcinoma,renal cell carcinoma c.541G>A p.V181M 16:2055461-2055461 9
49 COSM6942356 TSC1 kidney,NS,carcinoma,renal cell carcinoma c.2287C>T p.Q763* 9:132902709-132902709 9
50 COSM6963117 TSC1 kidney,NS,carcinoma,renal cell carcinoma c.1001C>A p.S334* 9:132911481-132911481 9

Copy number variations for Von Hippel-Lindau Syndrome from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 179185 3 8700000 11800000 Copy number VHL Von hippel-lindau syndrome
Sources

Expression for Von Hippel-Lindau Syndrome

About this section
Search GEO for disease gene expression data for Von Hippel-Lindau Syndrome.
Sources

Pathways for Von Hippel-Lindau Syndrome

About this section

Pathways related to Von Hippel-Lindau Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 Ubiquitin mediated proteolysis hsa04120
2 Pathways in cancer hsa05200
3 Renal cell carcinoma hsa05211

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

(show all 22)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 66
Show member pathways
 13.88 CCND1 CHGA CUL2 ELOB HIF1A NF1
2
Cellular Senescence (REACTOME) 66
Show member pathways
 12.94 CUL2 ELOB HIF1A TSC2 VEGFA VHL
3
Pathways in cancer 37
12.59 CCND1 CUL2 ELOB HIF1A RET VEGFA
4
ErbB signaling pathway 1 37
Show member pathways
 12.18 CCND1 CUL2 ELOB HIF1A VEGFA VHL
5
Pyruvate metabolism and Citric Acid (TCA) cycle 66
Show member pathways
 11.9 SDHB SDHC SDHD
6
Signaling by PTK6 66
Show member pathways
 11.89 CCND1 HIF1A NF1
7
Integrated Breast Cancer Pathway 1
11.89 CCND1 NF1 TSC2 VEGFA
8
Thyroid hormone signaling pathway 37
11.82 CCND1 HIF1A TSC2
9
Interleukin-4 and 13 signaling 66
11.8 CCND1 HIF1A VEGFA
10
Glioblastoma Multiforme 64
11.77 CCND1 NF1 TSC2
11
Citrate cycle (TCA cycle) 37
Show member pathways
 11.73 SDHB SDHC SDHD
12
Signaling events mediated by VEGFR1 and VEGFR2 1
Show member pathways
 11.66 HIF1A VEGFA VHL
13
HIF-1 signaling pathway 37
11.55 CUL2 ELOB HIF1A VEGFA VHL
14
Transcription Ligand-dependent activation of the ESR1/SP pathway 22
Show member pathways
 11.5 CCND1 HIF1A VEGFA
15
Hepatitis C and Hepatocellular Carcinoma 1
11.34 CCND1 HIF1A VEGFA
16
Aryl Hydrocarbon Receptor 1
11.29 NF1 RET VEGFA
17
HIF-2-alpha transcription factor network 1
11.08 ELOB VEGFA VHL
18
Immune response_Oncostatin M signaling via JAK-Stat in human cells 22
10.86 CCND1 VEGFA
19
Amplification and Expansion of Oncogenic Pathways as Metastatic Traits 1
10.79 VEGFA VHL
20
HIF1Alpha Pathway 64
10.75 CUL2 ELOB HIF1A VEGFA VHL
21
miR-148a/miR-31/FIH1/HIF1andalpha;-Notch signaling in glioblastoma 1
10.45 HIF1A VEGFA
22
Hypoxic and oxygen homeostasis regulation of HIF-1-alpha 1
10.43 CUL2 ELOB HIF1A VHL
Sources

GO Terms for Von Hippel-Lindau Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 secretory granule GO:0030141 9.43 CHGA CHGB VEGFA
2 Cul2-RING ubiquitin ligase complex GO:0031462 9.32 CUL2 ELOB
3 respiratory chain complex II GO:0045273 9.16 SDHB SDHC
4 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 9.13 SDHB SDHC SDHD
5 VCB complex GO:0030891 8.8 CUL2 ELOB VHL

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.85 CUL2 MEN1 NF1 TSC2 VHL
2 cerebral cortex development GO:0021987 9.67 HIF1A NF1 NPY
3 positive regulation of endothelial cell proliferation GO:0001938 9.65 HIF1A NF1 VEGFA
4 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0030949 9.55 HIF1A VEGFA
5 response to iron ion GO:0010039 9.54 CCND1 HIF1A
6 mammary gland alveolus development GO:0060749 9.52 CCND1 VEGFA
7 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.51 NF1 RET
8 lactation GO:0007595 9.5 CCND1 HIF1A VEGFA
9 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.43 SDHC SDHD
10 tricarboxylic acid cycle GO:0006099 9.43 SDHB SDHC SDHD
11 post-translational protein modification GO:0043687 9.43 CHGB CUL2 ELOB HIF1A MEN1 VHL
12 hemoglobin biosynthetic process GO:0042541 9.4 HIF1A INHA
13 positive regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061419 9.37 HIF1A VEGFA
14 camera-type eye morphogenesis GO:0048593 9.33 HIF1A NF1 VEGFA
15 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 9.02 CUL2 ELOB HIF1A VEGFA VHL

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

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.43 CHGB INHA NPY
2 electron transfer activity GO:0009055 9.33 SDHB SDHC SDHD
3 ubiquinone binding GO:0048039 9.13 SDHB SDHC SDHD
4 succinate dehydrogenase (ubiquinone) activity GO:0008177 8.8 SDHB SDHC SDHD
Sources

Sources for Von Hippel-Lindau Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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