MCID: VNH007
MIFTS: 69

Von Hippel-Lindau Syndrome

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Cardiovascular diseases, Nephrological diseases, Endocrine diseases, Fetal diseases, Cancer diseases

Aliases & Classifications for Von Hippel-Lindau Syndrome

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 53 25 54 59 75 55 43 44 15
Vhl 57 53 59
Von Hippel-Lindau Syndrome, Modifier of 57 6
Vhl Syndrome 53 25
Cerebelloretinal Angiomatosis, Familial 25
Familial Cerebelloretinal Angiomatosis 59
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


Classifications:



Summaries for Von Hippel-Lindau Syndrome

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 hemangioblastoma and pancreatic serous cystadenoma, and has symptoms including tinnitus and vertigo. 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 Everolimus and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include kidney, testes and adrenal gland, and related phenotypes are hydrocephalus and nystagmus

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)

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).

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.

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.

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.

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

GeneReviews:

Related Diseases for Von Hippel-Lindau Syndrome

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

(show top 50) (show all 92)
# Related Disease Score Top Affiliating Genes
1 hemangioblastoma 33.3 INHA VEGFA VHL
2 pancreatic serous cystadenoma 33.2 CHGA VEGFA VHL
3 erythrocytosis, familial, 2 32.9 HIF1A VHL
4 hereditary paraganglioma-pheochromocytoma syndromes 32.1 RET SDHB SDHC SDHD VHL
5 angiomatosis 31.2 TSC2 VHL
6 cystadenoma 30.9 CHGA INHA VHL
7 clear cell renal cell carcinoma 30.3 ELOB HIF1A INHA VEGFA VHL
8 neuroendocrine tumor 30.2 CHGA CHGB MEN1 SDHD
9 tuberous sclerosis 29.6 NF1 TSC2 VHL
10 sporadic pheochromocytoma 29.6 NF1 RET SDHB SDHC SDHD VHL
11 neurofibromatosis, type iv, of riccardi 29.4 NF1 RET SDHB SDHC SDHD VHL
12 paraganglioma 29.2 CHGA NF1 RET SDHB SDHC SDHD
13 phaeochromocytoma 28.7 CHGA NF1 NPY RET SDHB SDHC
14 multiple endocrine neoplasia 28.6 CHGA MEN1 NF1 PNMT RET SDHB
15 renal cell carcinoma, nonpapillary 27.8 ELOB HIF1A SDHB TSC2 VEGFA VHL
16 pheochromocytoma 27.3 CHGA CHGB MEN1 NF1 NPY PNMT
17 autosomal recessive secondary polycythemia not associated with vhl gene 12.0
18 endolymphatic sac tumor 11.7
19 hemangioma, capillary infantile 11.3
20 insulinoma 11.3
21 adrenal carcinoma 11.3
22 neural crest tumor 10.6 SDHB SDHC SDHD
23 paragangliomas 1 10.6 SDHB SDHC SDHD
24 chondroma 10.5 SDHB SDHC SDHD
25 paraganglioma and gastric stromal sarcoma 10.5 SDHB SDHC SDHD
26 persistent generalized lymphadenopathy 10.5 SDHB SDHC SDHD
27 carney triad 10.5 SDHB SDHC SDHD
28 microcystic adenoma 10.5 INHA VHL
29 lymph node disease 10.5 SDHB SDHC SDHD
30 mitochondrial complex ii deficiency 10.5 SDHB SDHC SDHD
31 fumarate hydratase deficiency 10.5 HIF1A VHL
32 lymphatic system disease 10.5 SDHB SDHC SDHD
33 pancreatitis 10.4
34 epithelioid malignant peripheral nerve sheath tumor 10.4 CHGA NF1
35 glucagonoma 10.3 CHGA CHGB
36 male reproductive organ cancer 10.3 CCND1 CHGA VEGFA
37 intravascular papillary endothelial hyperplasia 10.3 HIF1A VEGFA
38 extra-adrenal pheochromocytoma 10.3 PNMT SDHB SDHC SDHD
39 hyperparathyroidism 2 with jaw tumors 10.3 CCND1 MEN1 RET
40 cell type cancer 10.3 CCND1 CHGA VEGFA
41 critical limb ischemia 10.3 HIF1A VEGFA
42 pancreatic neuroendocrine tumor 10.3
43 parathyroid carcinoma 10.2 CCND1 MEN1 RET
44 retinal hemangioblastoma 10.2 HIF1A VEGFA VHL
45 hemangioma 10.2
46 retinitis 10.2
47 endotheliitis 10.2
48 acute mountain sickness 10.2 HIF1A VEGFA VHL
49 heart cancer 10.1 SDHB TSC2
50 neurofibromatosis, type i 10.0

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



Diseases related to Von Hippel-Lindau Syndrome

Symptoms & Phenotypes for Von Hippel-Lindau Syndrome

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., )

GenitourinaryInternal GenitaliaMale:
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 visual impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000505
13 arrhythmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0011675
14 sensory neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0000763
15 hemiplegia/hemiparesis 59 32 frequent (33%) Frequent (79-30%) HP:0004374
16 arteriovenous malformation 59 32 hallmark (90%) Very frequent (99-80%) HP:0100026
17 migraine 59 32 frequent (33%) Frequent (79-30%) HP:0002076
18 aplasia/hypoplasia of the cerebellum 59 32 hallmark (90%) Very frequent (99-80%) HP:0007360
19 abnormality of the retinal vasculature 59 32 hallmark (90%) Very frequent (99-80%) HP:0008046
20 telangiectasia of the skin 59 32 frequent (33%) Frequent (79-30%) HP:0100585
21 multicystic kidney dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0000003
22 polycystic kidney dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0000113
23 glaucoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000501
24 retinal detachment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000541
25 visual loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0000572
26 pancreatic cysts 59 32 hallmark (90%) Very frequent (99-80%) HP:0001737
27 pheochromocytoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002666
28 multiple renal cysts 59 32 occasional (7.5%) Occasional (29-5%) HP:0005562
29 renal cell carcinoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0005584
30 retinal capillary hemangioma 59 32 hallmark (90%) Very frequent (99-80%) HP:0009711
31 papillary cystadenoma of the epididymis 59 32 frequent (33%) Frequent (79-30%) HP:0009715
32 abnormality of the cerebral vasculature 59 32 hallmark (90%) Very frequent (99-80%) HP:0100659
33 visceral angiomatosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100761
34 abnormality of the lymphatic system 59 32 occasional (7.5%) Occasional (29-5%) HP:0100763
35 neoplasm of the middle ear 59 32 occasional (7.5%) Occasional (29-5%) HP:0100799
36 hearing impairment 59 Occasional (29-5%)
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:


tinnitus, vertigo

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 VHL NF1

MGI Mouse Phenotypes related to Von Hippel-Lindau Syndrome:

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.36 CCND1 CHGA HIF1A INHA MEN1 NF1
2 homeostasis/metabolism MP:0005376 10.36 CCND1 CHGA CHGB HIF1A INHA MEN1
3 endocrine/exocrine gland MP:0005379 10.32 CHGB HIF1A INHA MEN1 NF1 RET
4 growth/size/body region MP:0005378 10.27 VHL CCND1 CHGA HIF1A INHA MEN1
5 hematopoietic system MP:0005397 10.22 TSC2 VEGFA VHL RET SDHB SDHC
6 mortality/aging MP:0010768 10.22 CCND1 CHGA HIF1A INHA MEN1 NF1
7 digestive/alimentary MP:0005381 10.19 RET VEGFA VHL CCND1 HIF1A INHA
8 embryo MP:0005380 10.13 HIF1A MEN1 NF1 RET SDHD TSC2
9 neoplasm MP:0002006 10.11 CCND1 HIF1A INHA MEN1 NF1 RET
10 liver/biliary system MP:0005370 10.03 HIF1A INHA MEN1 NF1 NPY TSC2
11 normal MP:0002873 10.03 HIF1A INHA NF1 NPY PNMT RET
12 nervous system MP:0003631 10.02 CCND1 CHGB HIF1A MEN1 NF1 NPY
13 renal/urinary system MP:0005367 9.81 CHGA HIF1A NF1 NPY RET SDHB
14 reproductive system MP:0005389 9.56 CCND1 CHGA INHA MEN1 RET TSC2
15 skeleton MP:0005390 9.23 HIF1A INHA NF1 NPY SDHC VEGFA

Drugs & Therapeutics for Von Hippel-Lindau Syndrome

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

(show all 49)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Everolimus Approved Phase 3 159351-69-6 6442177
2
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
3
Sirolimus Approved, Investigational Phase 3 53123-88-9 5284616 6436030 46835353
4 Endothelial Growth Factors Phase 3,Phase 2
5 Mitogens Phase 3,Phase 2
6 Anti-Bacterial Agents Phase 3
7 Antibiotics, Antitubercular Phase 3
8 Antifungal Agents Phase 3
9 Anti-Infective Agents Phase 3
10 Immunosuppressive Agents Phase 3
11 tyrosine Nutraceutical Phase 3
12
Sunitinib Approved, Investigational Phase 2,Phase 1 341031-54-7, 557795-19-4 5329102
13
Ranibizumab Approved Phase 1, Phase 2,Phase 2 347396-82-1 459903
14
Somatostatin Approved, Investigational Phase 2 38916-34-6, 51110-01-1 53481605
15
Pancrelipase Approved, Investigational Phase 2 53608-75-6
16
Histidine Approved, Nutraceutical Phase 1, Phase 2 71-00-1 6274
17
Vatalanib Investigational Phase 2 212141-54-3 151194
18 Fluorodeoxyglucose F18 Phase 2
19 Radiopharmaceuticals Phase 2
20 Angiogenesis Inhibitors Phase 2,Phase 1,Not Applicable,Early Phase 1
21 Angiogenesis Modulating Agents Phase 2,Phase 1,Not Applicable,Early Phase 1
22 Protein Kinase Inhibitors Phase 2,Not Applicable
23 Pharmaceutical Solutions Phase 1, Phase 2
24 pancreatin Phase 2
25 Adjuvants, Immunologic Phase 2
26 Freund's Adjuvant Phase 2
27 Vaccines Phase 2
28
Bevacizumab Approved, Investigational Phase 1,Not Applicable,Early Phase 1 216974-75-3
29
Vorinostat Approved, Investigational Phase 1 149647-78-9 5311
30 Antibodies Phase 1,Not Applicable
31 Antibodies, Monoclonal Phase 1,Not Applicable
32 Immunoglobulins Phase 1,Not Applicable
33 Histone Deacetylase Inhibitors Phase 1
34
Sorafenib Approved, Investigational Not Applicable 284461-73-0 216239 406563
35
Epinephrine Approved, Vet_approved 51-43-4 5816
36
Norepinephrine Approved 51-41-2 439260
37
Racepinephrine Approved 329-65-7 838
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
Nicotinamide Approved, Investigational, Nutraceutical Not Applicable 98-92-0 936
41 Micronutrients Not Applicable
42 Nicotinic Acids Not Applicable
43 Trace Elements Not Applicable
44 Vitamin B Complex Not Applicable
45 Vitamins Not Applicable
46 Epinephryl borate
47 Folate Nutraceutical Not Applicable
48 Vitamin B3 Nutraceutical Not Applicable
49 Vitamin B9 Nutraceutical Not Applicable

Interventional clinical trials:

(show all 39)
# 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) Enrolling by invitation 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 Clinical Manifestations and Molecular Bases of Heritable Urologic Malignant Disorders Recruiting NCT00001238
34 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
35 Diagnosis of Pheochromocytoma Recruiting NCT00004847
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 Ruxolitinib for Chuvash Polycythemia No longer available NCT01730755 Ruxolitinib
39 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

Genetic Tests for Von Hippel-Lindau Syndrome

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

Anatomical Context for Von Hippel-Lindau Syndrome

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

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

Publications for Von Hippel-Lindau Syndrome

Articles related to Von Hippel-Lindau Syndrome:

(show top 50) (show all 91)
# 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
Evidence for genetic anticipation in von Hippel-Lindau syndrome. ( 29437867 )
2018
5
Treatment of multiple synchronous misdiagnosed renal cell cancers in a young patient affected by a "de novo" Von Hippel-Lindau syndrome. ( 28256701 )
2017
6
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
7
Von Hippel Lindau Syndrome ( 29083737 )
2017
8
A Review of Von Hippel-Lindau Syndrome. ( 28785532 )
2017
9
Bilateral quadratus lumborum block for postoperative analgesia in a Von Hippel-Lindau syndrome patient undergoing laparoscopic radical nephrectomy. ( 29033750 )
2017
10
Radiofrequency Ablation for Renal Cancer in Von Hippel-Lindau Syndrome Patients: A Prospective Cohort Analysis. ( 28866246 )
2017
11
Molecular-genetic diagnostics of von Hippel-Lindau syndrome (VHL) in Bulgaria: first complex mutation event in the VHL gene. ( 28849724 )
2017
12
Supratentorial haemangioblastoma without von Hippel-Lindau syndrome in an adult: A rare tumor with review of literature. ( 26889272 )
2016
13
Freiburg Neuropathology Case Conference : Petrosal mass lesion in a patient with von Hippel-Lindau syndrome. ( 27286949 )
2016
14
Recurrent Pheochromocytomas in a Child with Familial von Hippel-Lindau Syndrome. ( 27130508 )
2016
15
Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome. ( 27527340 )
2016
16
Endolymphatic sac tumor in association with von Hippel-Lindau syndrome. ( 26991214 )
2016
17
Manifestations of Von Hippel Lindau syndrome: a retrospective national review. ( 27284160 )
2016
18
Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-I+ binding site missense mutations elevate age-specific risk for CNS hemangioblastoma. ( 27439424 )
2016
19
Surgical treatment of sporadic and von Hippel-Lindau syndrome-associated intramedullary hemangioblastomas. ( 27591060 )
2016
20
From arterial hypertension complications to von Hippel-Lindau syndrome diagnosis. ( 26268347 )
2015
21
Assessment of tumor growth in von Hippel Lindau syndrome. ( 25700900 )
2015
22
Pheochromocytoma screening initiation and frequency in von Hippel-Lindau syndrome. ( 26451910 )
2015
23
Recurrent lobular capillary hemangiomas in a patient with neurofibromatosis type 1 (NF1) and von Hippel-Lindau syndrome (VHL). ( 27051783 )
2015
24
A novel mutation links to von Hippel-Lindau syndrome in a Chinese family with hemangioblastoma. ( 25966224 )
2015
25
Renal cell carcinoma to haemangioblastoma metastasis: a rare manifestation of Von Hippel-Lindau syndrome. ( 25088480 )
2015
26
Tumor growth in von Hippel Lindau syndrome: in reply to Qazi and colleagues. ( 25700902 )
2015
27
VON HIPPEL LINDAU SYNDROME AND SURVEILLANCE: A FIVE YEAR FOLLOW UP CASE REPORT. ( 27004355 )
2015
28
Von Hippel-Lindau Syndrome. ( 26279462 )
2015
29
Use of sunitinib in a 30-year-old woman with pancreatic neuroendocrine tumors associated with Von Hippel-Lindau syndrome. ( 24921213 )
2015
30
Genotype-phenotype analysis of von Hippel-Lindau syndrome in fifteen Indian families. ( 25952756 )
2015
31
Assessment of tumor growth in pancreatic neuroendocrine tumors in von Hippel Lindau syndrome. ( 24440063 )
2014
32
Manifestations of Von Hippel Lindau syndrome: a retrospective national review. ( 24352051 )
2014
33
Superior mediastinal paraganglioma associated with von Hippel-Lindau syndrome: report of a case. ( 24678933 )
2014
34
Von Hippel-Lindau syndrome: demonstration of entire disease spectrum with (68)Ga-DOTANOC PET-CT. ( 24497809 )
2014
35
Clinical presentation of Von Hippel Lindau syndrome type 2B associated with VHL p.A149S mutation in a large Turkish family. ( 23673869 )
2014
36
Biliary and gastric drainage in advanced pancreatic serous cystadenoma and portal hypertension in Von Hippel-Lindau syndrome. ( 24772348 )
2014
37
Paraplegia in a patient with Von Hippel Lindau syndrome: surgical and reconstructive treatment of Marjolin's ulcer. A case report. ( 25376307 )
2014
38
Massive exudative retinal detachment following photodynamic therapy for retinal hemangioma in von Hippel-Lindau Syndrome. ( 24632330 )
2014
39
68Ga DOTANOC PET/CT aiding in the diagnosis of von Hippel-Lindau syndrome by detecting cerebellar hemangioblastoma and adrenal pheochromocytoma. ( 24999687 )
2014
40
Clear cell papillary renal cell carcinoma in patients with von Hippel-Lindau syndrome--clinicopathological features and comparative genomic analysis of 3 cases. ( 25081542 )
2014
41
Laparoscopic Adrenalectomy in a Patient of Von Hippel Lindau Syndrome with Ventriculo-Peritoneal Shunt-Anaesthetic management. ( 25386452 )
2014
42
p.N78S and p.R161Q germline mutations of the VHL gene are present in von Hippel-Lindau syndrome in two pedigrees. ( 23842656 )
2013
43
Von hippel-lindau syndrome: diagnosis and management of hemangioblastoma and pheochromocytoma. ( 23781388 )
2013
44
FDG PET/CT detects clinically occult pancreatic cancer in a case of Von Hippel-Lindau syndrome. ( 23486326 )
2013
45
[Prenatal exclusion of von Hippel-Lindau syndrome in a Mexican family carrying a novel VHL gene mutation]. ( 23720934 )
2013
46
Midline basifrontal solid hemangioblastoma in non von hippel lindau syndrome patient. ( 23189014 )
2012
47
Long-term disease control with sunitinib in a patient with metastatic pancreatic neuroendocrine tumor (NET) associated with Von Hippel-Lindau syndrome (VHL). ( 22415670 )
2012
48
Clinical utility of functional imaging with A^a8,F-FDOPA in Von Hippel-Lindau syndrome. ( 22259055 )
2012
49
Partial adrenalectomy minimizes the need for long-term hormone replacement in pediatric patients with pheochromocytoma and von Hippel-Lindau syndrome. ( 23164001 )
2012
50
Bilateral Laparoscopic adrenalectomy due to a phaeochromocytoma in Von Hippel-Lindau Syndrome: a technique with 4 trocars. ( 22591617 )
2012

Variations for Von Hippel-Lindau Syndrome

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 942)
# 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.191G> C (p.Arg64Pro) single nucleotide variant Pathogenic rs104893826 GRCh37 Chromosome 3, 10183722: 10183722
22 VHL NM_000551.3(VHL): c.191G> C (p.Arg64Pro) single nucleotide variant Pathogenic rs104893826 GRCh38 Chromosome 3, 10142038: 10142038
23 VHL NM_000551.3(VHL): c.334T> A (p.Tyr112Asn) single nucleotide variant Pathogenic rs104893824 GRCh37 Chromosome 3, 10183865: 10183865
24 VHL NM_000551.3(VHL): c.334T> A (p.Tyr112Asn) single nucleotide variant Pathogenic rs104893824 GRCh38 Chromosome 3, 10142181: 10142181
25 VHL NM_000551.3(VHL): c.388G> C (p.Val130Leu) single nucleotide variant Pathogenic rs104893830 GRCh37 Chromosome 3, 10188245: 10188245
26 VHL NM_000551.3(VHL): c.388G> C (p.Val130Leu) single nucleotide variant Pathogenic rs104893830 GRCh38 Chromosome 3, 10146561: 10146561
27 VHL NM_000551.3(VHL): c.250G> T (p.Val84Leu) single nucleotide variant Pathogenic rs5030827 GRCh37 Chromosome 3, 10183781: 10183781
28 VHL NM_000551.3(VHL): c.250G> T (p.Val84Leu) single nucleotide variant Pathogenic rs5030827 GRCh38 Chromosome 3, 10142097: 10142097
29 VHL NM_000551.3(VHL): c.277G> A (p.Gly93Ser) single nucleotide variant Pathogenic rs5030808 GRCh37 Chromosome 3, 10183808: 10183808
30 VHL NM_000551.3(VHL): c.277G> A (p.Gly93Ser) single nucleotide variant Pathogenic rs5030808 GRCh38 Chromosome 3, 10142124: 10142124
31 VHL NM_000551.3(VHL): c.491A> G (p.Gln164Arg) single nucleotide variant Pathogenic rs267607170 GRCh37 Chromosome 3, 10191498: 10191498
32 VHL NM_000551.3(VHL): c.491A> G (p.Gln164Arg) single nucleotide variant Pathogenic rs267607170 GRCh38 Chromosome 3, 10149814: 10149814
33 CCND1 NM_053056.2(CCND1): c.723G> A (p.Pro241=) single nucleotide variant risk factor rs9344 GRCh37 Chromosome 11, 69462910: 69462910
34 CCND1 NM_053056.2(CCND1): c.723G> A (p.Pro241=) single nucleotide variant risk factor rs9344 GRCh38 Chromosome 11, 69648142: 69648142
35 VHL NM_000551.3(VHL): c.242C> T (p.Pro81Leu) single nucleotide variant Likely pathogenic rs193922608 GRCh37 Chromosome 3, 10183773: 10183773
36 VHL NM_000551.3(VHL): c.242C> T (p.Pro81Leu) single nucleotide variant Likely pathogenic rs193922608 GRCh38 Chromosome 3, 10142089: 10142089
37 VHL NM_000551.3(VHL): c.320G> C (p.Arg107Pro) single nucleotide variant Pathogenic/Likely pathogenic rs193922609 GRCh37 Chromosome 3, 10183851: 10183851
38 VHL NM_000551.3(VHL): c.320G> C (p.Arg107Pro) single nucleotide variant Pathogenic/Likely pathogenic rs193922609 GRCh38 Chromosome 3, 10142167: 10142167
39 VHL NM_000551.3(VHL): c.371C> T (p.Thr124Ile) single nucleotide variant Likely pathogenic rs193922610 GRCh37 Chromosome 3, 10188228: 10188228
40 VHL NM_000551.3(VHL): c.371C> T (p.Thr124Ile) single nucleotide variant Likely pathogenic rs193922610 GRCh38 Chromosome 3, 10146544: 10146544
41 VHL NM_000551.3(VHL): c.458T> A (p.Leu153Gln) single nucleotide variant Likely pathogenic rs193922611 GRCh37 Chromosome 3, 10188315: 10188315
42 VHL NM_000551.3(VHL): c.458T> A (p.Leu153Gln) single nucleotide variant Likely pathogenic rs193922611 GRCh38 Chromosome 3, 10146631: 10146631
43 VHL p.X214Trp single nucleotide variant Likely pathogenic
44 VHL NM_000551.3(VHL): c.408delT (p.Phe136Leufs) deletion Pathogenic rs397516442 GRCh38 Chromosome 3, 10146581: 10146581
45 VHL NM_000551.3(VHL): c.463+2T> G single nucleotide variant Likely pathogenic rs5030814 GRCh37 Chromosome 3, 10188322: 10188322
46 VHL NM_000551.3(VHL): c.194C> G (p.Ser65Trp) single nucleotide variant Pathogenic rs5030826 GRCh37 Chromosome 3, 10183725: 10183725
47 VHL NM_000551.3(VHL): c.194C> G (p.Ser65Trp) single nucleotide variant Pathogenic rs5030826 GRCh38 Chromosome 3, 10142041: 10142041
48 VHL NM_000551.3(VHL): c.208G> A (p.Glu70Lys) single nucleotide variant Pathogenic/Likely pathogenic rs5030802 GRCh37 Chromosome 3, 10183739: 10183739
49 VHL NM_000551.3(VHL): c.208G> A (p.Glu70Lys) single nucleotide variant Pathogenic/Likely pathogenic rs5030802 GRCh38 Chromosome 3, 10142055: 10142055
50 VHL NM_000551.3(VHL): c.319C> G (p.Arg107Gly) single nucleotide variant Pathogenic rs397516440 GRCh37 Chromosome 3, 10183850: 10183850

Cosmic variations for Von Hippel-Lindau Syndrome:

9
(show top 50) (show all 2185)
# 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 COSM499 HRAS adrenal gland,adrenal gland,pheochromocytoma,benign c.182A>G p.Q61R 11:533874-533874 15
26 COSM496 HRAS adrenal gland,adrenal gland,pheochromocytoma,benign c.181C>A p.Q61K 11:533875-533875 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

Expression for Von Hippel-Lindau Syndrome

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

Pathways for Von Hippel-Lindau Syndrome

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 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.94 CUL2 ELOB HIF1A TSC2 VEGFA VHL
2 12.59 CCND1 CUL2 ELOB HIF1A RET VEGFA
3
Show member pathways
12.18 CCND1 CUL2 ELOB HIF1A VEGFA VHL
4 11.89 CCND1 NF1 TSC2 VEGFA
5 11.82 CCND1 HIF1A TSC2
6 11.8 CCND1 HIF1A VEGFA
7 11.78 CCND1 NF1 TSC2
8
Show member pathways
11.73 SDHB SDHC SDHD
9
Show member pathways
11.66 HIF1A VEGFA VHL
10 11.55 CUL2 ELOB HIF1A VEGFA VHL
11
Show member pathways
11.5 CCND1 HIF1A VEGFA
12 11.34 CCND1 HIF1A VEGFA
13 11.29 NF1 RET VEGFA
14 11.09 CUL2 ELOB HIF1A VEGFA VHL
15 11.08 ELOB VEGFA VHL
16 10.86 CCND1 VEGFA
17 10.78 VEGFA VHL
18 10.45 HIF1A VEGFA
19 10.1 CUL2 ELOB HIF1A VHL

GO Terms for Von Hippel-Lindau Syndrome

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 9.5 CHGA CHGB VEGFA
2 Cul2-RING ubiquitin ligase complex GO:0031462 9.26 CUL2 ELOB
3 respiratory chain complex II GO:0045273 9.16 SDHB SDHC
4 VCB complex GO:0030891 9.13 CUL2 ELOB VHL
5 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.8 SDHB SDHC SDHD

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

(show all 16)
# 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 neuroblast proliferation GO:0002052 9.56 HIF1A VEGFA
5 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0030949 9.55 HIF1A VEGFA
6 response to iron ion GO:0010039 9.54 CCND1 HIF1A
7 mammary gland alveolus development GO:0060749 9.52 CCND1 VEGFA
8 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.51 NF1 RET
9 lactation GO:0007595 9.5 CCND1 HIF1A VEGFA
10 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.43 SDHC SDHD
11 tricarboxylic acid cycle GO:0006099 9.43 SDHB SDHC SDHD
12 post-translational protein modification GO:0043687 9.43 CHGB CUL2 ELOB HIF1A MEN1 VHL
13 hemoglobin biosynthetic process GO:0042541 9.4 HIF1A INHA
14 positive regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061419 9.37 HIF1A VEGFA
15 camera-type eye morphogenesis GO:0048593 9.33 HIF1A NF1 VEGFA
16 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 9.5 CHGB INHA NPY
2 electron transfer activity GO:0009055 9.43 SDHB SDHC SDHD
3 ubiquinone binding GO:0048039 9.16 SDHB SDHD
4 succinate dehydrogenase activity GO:0000104 8.96 SDHC SDHD
5 succinate dehydrogenase (ubiquinone) activity GO:0008177 8.8 SDHB SDHC SDHD

Sources for Von Hippel-Lindau Syndrome

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
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