VHLS
MCID: VNH007
MIFTS: 73

Von Hippel-Lindau Syndrome (VHLS)

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

Aliases & Classifications for Von Hippel-Lindau Syndrome

MalaCards integrated aliases for Von Hippel-Lindau Syndrome:

Name: Von Hippel-Lindau Syndrome 57 12 25 20 43 58 72 36 29 13 6 39 70
Von Hippel-Lindau Disease 12 73 25 20 43 53 58 72 54 42 44 15
Vhl Syndrome 25 20 43
Vhl 57 20 58
Von Hippel-Lindau Syndrome, Modifier of 57 6
Vhls 57 72
Cerebelloretinal Angiomatosis, Familial 43
Familial Cerebelloretinal Angiomatosis 58
Hippel Lindau Syndrome 12
Hippel-Lindau Disease 43
Angiomatosis Retinae 43
Von Hippel-Lindau 29
Lindau Disease 58
Vhld 72

Characteristics:

Orphanet epidemiological data:

58
von hippel-lindau disease
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (United Kingdom); Age of onset: Adult; Age of death: elderly;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype, even within families
incidence of 1 in 39,000
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:

31
von hippel-lindau syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

25
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:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare renal diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Von Hippel-Lindau Syndrome

MedlinePlus Genetics : 43 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.Tumors called hemangioblastomas are characteristic of von Hippel-Lindau syndrome. These growths are made of newly formed blood vessels. Although they are typically noncancerous, they can cause serious or life-threatening complications. Hemangioblastomas that develop in the brain and spinal cord can cause headaches, vomiting, weakness, and a loss of muscle coordination (ataxia). Hemangioblastomas can also occur in the light-sensitive tissue that lines the back of the eye (the retina). These tumors, which are also called retinal angiomas, may cause vision loss.People with von Hippel-Lindau syndrome commonly develop cysts in the kidneys, pancreas, and genital tract. They are also at an increased risk of developing a type of kidney cancer called clear cell renal cell carcinoma and a type of pancreatic cancer called a pancreatic neuroendocrine tumor.Von Hippel-Lindau syndrome is associated with a type of tumor called a pheochromocytoma, which most commonly occurs in the adrenal glands (small hormone-producing glands located on top of each kidney). Pheochromocytomas are usually noncancerous. They may cause no symptoms, but in some cases they are associated with headaches, panic attacks, excess sweating, or dangerously high blood pressure that may not respond to medication. Pheochromocytomas are particularly dangerous in times of stress or trauma, such as when undergoing surgery or in an accident, or during pregnancy.About 10 percent of people with von Hippel-Lindau syndrome develop endolymphatic sac tumors, which are noncancerous tumors in the inner ear. These growths can cause hearing loss in one or both ears, as well as ringing in the ears (tinnitus) and problems with balance. Without treatment, these tumors can cause sudden profound deafness.Noncancerous tumors may also develop in the liver and lungs in people with von Hippel-Lindau syndrome. These tumors do not appear to cause any signs or symptoms.

MalaCards based summary : Von Hippel-Lindau Syndrome, also known as von hippel-lindau disease, is related to hemangioblastoma and endolymphatic sac tumor, 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 Ranibizumab and Somatostatin have been mentioned in the context of this disorder. Affiliated tissues include pancreas, spinal cord and kidney, and related phenotypes are hypertension and renal cell carcinoma

GARD : 20 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 (VHLS) 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) (Updated 05-Apr-2021)

MedlinePlus : 42 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

NINDS : 53 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.

KEGG : 36 von Hippel-Lindau syndrome is an autosomal dominant disorder associated with tumors in the central nervous system and other organs. The most frequent tumors are cerebellar and retinal haemangioblastomas, pancreatic neuroendocrine tumors, renal cell carcinoma, phaeochromocytoma in the adrenal gland, epididymal cystadenoma, and endolymphatic sac tumours. Germline inactivation of VHL tumor suppressor protein leads to the upregulation of HIF and promotes to carcinogenesis.

UniProtKB/Swiss-Prot : 72 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 : 73 Von Hippel-Lindau disease (VHL), also known as Von Hippel-Lindau syndrome, is a rare genetic disorder... more...

GeneReviews: NBK1463

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 547)
# Related Disease Score Top Affiliating Genes
1 hemangioblastoma 32.9 VHL VEGFA LOC107303340 HIF1A
2 endolymphatic sac tumor 32.9 VHL LOC107303340
3 hereditary paraganglioma-pheochromocytoma syndromes 32.5 VHL SDHD SDHC SDHB RET NF1
4 clear cell renal cell carcinoma 32.4 VHL VEGFA HIF1A ELOB CCND1
5 adrenal carcinoma 32.4 SDHD SDHB MEN1 CHGA CCND1
6 primary polycythemia 31.9 VHL HIF1A ELOB
7 fumarate hydratase deficiency 31.8 VHL HIF1A
8 acute mountain sickness 31.7 VHL VEGFA HIF1A
9 neurofibromatosis, type i 31.5 VHL SDHD SDHC SDHB RET NF1
10 esophagus leiomyoma 31.5 VHL SDHD SDHC SDHB RET NF1
11 cystadenoma 31.5 VHL HIF1A CHGA
12 multiple endocrine neoplasia, type i 31.4 VHL SDHD SDHC SDHB RET NF1
13 angiomatosis 31.4 VHL LOC107303340
14 familial isolated hypoparathyroidism 31.4 VHL VEGFA HIF1A ELOB CUL2
15 capillary hemangioma 31.3 VHL VEGFA HIF1A
16 kidney cancer 31.3 VHL VEGFA SDHC SDHB HIF1A
17 islet cell tumor 31.3 RET MEN1 CHGA
18 central nervous system hemangioma 31.2 VEGFA RET
19 erythrocytosis, familial, 2 31.1 VHL LOC107303340 HIF1A ELOB CUL2
20 hyperparathyroidism 31.1 RET MEN1 CHGA
21 endocrine organ benign neoplasm 31.1 VHL SDHD SDHC SDHB RET PNMT
22 renal cell carcinoma, nonpapillary 31.0 VHL VEGFA SDHC SDHB RET LOC107303340
23 hemangioma 31.0 VHL VEGFA RET MEN1 HIF1A CHGA
24 neuroendocrine tumor 31.0 VEGFA SDHD SDHB RET MEN1 CHGB
25 adenoma 30.9 VHL RET MEN1 CHGA CCND1
26 malignant astrocytoma 30.9 VEGFA NF1 HIF1A CHGA
27 nonsyndromic paraganglioma 30.9 SDHB RET CHGA
28 retinal hemangioblastoma 30.9 VHL VEGFA LOC107303340 HIF1A ELOB CUL2
29 primary hyperparathyroidism 30.9 RET MEN1 CHGA CCND1
30 extra-adrenal pheochromocytoma 30.8 SDHD SDHC SDHB RET PNMT NF1
31 neurofibromatosis, type ii 30.8 SDHD SDHB NF1
32 neurofibromatosis 30.8 VHL SDHD SDHB RET NF1
33 somatostatinoma 30.8 NF1 MEN1 CHGA
34 multiple endocrine neoplasia 30.7 VHL SDHD SDHC SDHB RET PNMT
35 non-functioning pancreatic endocrine tumor 30.7 MEN1 CHGA
36 carcinoid tumors, intestinal 30.7 MEN1 CHGB CHGA
37 thyroid gland medullary carcinoma 30.7 RET MEN1 CHGA
38 constipation 30.7 SLC6A2 RET NPY CHGA
39 malignant pheochromocytoma 30.7 VHL SLC6A2 SDHB PNMT CHGA
40 pancreatic gastrinoma 30.7 MEN1 CHGA
41 thyroid carcinoma, familial medullary 30.7 VHL RET MEN1 CHGA
42 tuberous sclerosis 30.6 VHL VEGFA NF1 CHGA
43 soft tissue sarcoma 30.6 VEGFA HIF1A
44 duodenal somatostatinoma 30.6 NF1 MEN1
45 renal cell carcinoma, papillary, 1 30.6 VHL VEGFA SDHB LOC107303340 HIF1A
46 pheochromocytoma-paraganglioma 30.6 VHL SDHD SDHC SDHB RET PNMT
47 rhabdomyosarcoma 30.6 VEGFA SDHC NF1 CHGA CCND1
48 colorectal adenocarcinoma 30.5 VEGFA HIF1A CCND1
49 hypoxia 30.5 VHL VEGFA HIF1A CUL2
50 cardiovascular organ benign neoplasm 30.5 VHL VEGFA SDHD SDHB RET NF1

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

Human phenotypes related to Von Hippel-Lindau Syndrome:

58 31 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0000822
2 renal cell carcinoma 58 31 frequent (33%) Frequent (79-30%) HP:0005584
3 elevated urinary catecholamines 58 31 frequent (33%) Frequent (79-30%) HP:0011976
4 adrenal pheochromocytoma 58 31 frequent (33%) Frequent (79-30%) HP:0006748
5 retinal capillary hemangioma 58 31 frequent (33%) Frequent (79-30%) HP:0009711
6 cerebellar hemangioblastoma 58 31 frequent (33%) Frequent (79-30%) HP:0006880
7 hyperhidrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000975
8 anxiety 58 31 occasional (7.5%) Occasional (29-5%) HP:0000739
9 pallor 58 31 occasional (7.5%) Occasional (29-5%) HP:0000980
10 back pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0003418
11 abdominal pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0002027
12 vertigo 58 31 occasional (7.5%) Occasional (29-5%) HP:0002321
13 multiple renal cysts 58 31 occasional (7.5%) Occasional (29-5%) HP:0005562
14 stroke 58 31 occasional (7.5%) Occasional (29-5%) HP:0001297
15 headache 58 31 occasional (7.5%) Occasional (29-5%) HP:0002315
16 distal lower limb muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0009053
17 pancreatic cysts 58 31 occasional (7.5%) Occasional (29-5%) HP:0001737
18 cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001638
19 visual loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0000572
20 upper limb muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0003484
21 limb pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0009763
22 papilledema 58 31 occasional (7.5%) Occasional (29-5%) HP:0001085
23 papillary cystadenoma of the epididymis 58 31 occasional (7.5%) Occasional (29-5%) HP:0009715
24 palpitations 58 31 occasional (7.5%) Occasional (29-5%) HP:0001962
25 macular edema 58 31 occasional (7.5%) Occasional (29-5%) HP:0040049
26 hypertensive retinopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001095
27 pancreatic islet cell adenoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0008261
28 elevated circulating catecholamine level 58 31 occasional (7.5%) Occasional (29-5%) HP:0003334
29 endolymphatic sac tumor 58 31 occasional (7.5%) Occasional (29-5%) HP:0030393
30 abnormal left ventricular function 31 occasional (7.5%) HP:0005162
31 increased intracranial pressure 58 31 very rare (1%) Very rare (<4-1%) HP:0002516
32 myocardial infarction 58 31 very rare (1%) Very rare (<4-1%) HP:0001658
33 retinal detachment 58 31 very rare (1%) Very rare (<4-1%) HP:0000541
34 myocarditis 58 31 very rare (1%) Very rare (<4-1%) HP:0012819
35 polycythemia 58 31 very rare (1%) Very rare (<4-1%) HP:0001901
36 paraganglioma 58 31 very rare (1%) Very rare (<4-1%) HP:0002668
37 epididymal cyst 58 31 very rare (1%) Very rare (<4-1%) HP:0030424
38 neoplasm of the pancreas 58 31 Very rare (<4-1%) HP:0002894
39 sensorineural hearing impairment 31 HP:0000407
40 arrhythmia 58 Occasional (29-5%)
41 abnormality of the eye 58 Very frequent (99-80%)
42 pheochromocytoma 31 HP:0002666
43 abnormality of the liver 31 HP:0001392
44 tinnitus 31 HP:0000360
45 left ventricular dysfunction 58 Occasional (29-5%)
46 spinal hemangioblastoma 31 HP:0009713
47 pancreatic endocrine tumor 58 Occasional (29-5%)
48 pulmonary capillary hemangiomatosis 31 HP:0005954

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Endocrine Features:
hypertension
adrenal hemangiomas

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

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

Neoplasia:
pheochromocytoma
paraganglioma
pancreatic cancer
hemangioblastoma, sporadic cerebellar (e.g., )
hypernephroma
more
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 (Updated 05-Apr-2021)

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 8.32 NF1

MGI Mouse Phenotypes related to Von Hippel-Lindau Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.28 CCND1 CHGA CHGB HIF1A MEN1 NF1
2 cardiovascular system MP:0005385 10.22 CCND1 CHGA HIF1A MEN1 NF1 PNMT
3 mortality/aging MP:0010768 10.18 CCND1 CHGA CUL2 HIF1A MEN1 NF1
4 endocrine/exocrine gland MP:0005379 10.17 CCND1 CHGA CHGB HIF1A MEN1 NF1
5 digestive/alimentary MP:0005381 10.06 CCND1 HIF1A MEN1 NF1 NPY RET
6 nervous system MP:0003631 9.97 CCND1 CHGA CHGB HIF1A MEN1 NF1
7 neoplasm MP:0002006 9.96 CCND1 HIF1A MEN1 NF1 RET SDHB
8 muscle MP:0005369 9.92 CHGA HIF1A MEN1 NF1 RET SDHC
9 normal MP:0002873 9.7 CCND1 HIF1A NF1 NPY PNMT RET
10 renal/urinary system MP:0005367 9.23 CHGA HIF1A NF1 NPY RET SDHB

Drugs & Therapeutics for Von Hippel-Lindau Syndrome

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

(show all 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ranibizumab Approved Phase 1, Phase 2 347396-82-1 459903
2
Somatostatin Approved, Investigational Phase 2 38916-34-6, 51110-01-1 53481605
3
Sunitinib Approved, Investigational Phase 2 557795-19-4, 341031-54-7 5329102
4
Pancrelipase Approved, Investigational Phase 2 53608-75-6
5
Vatalanib Investigational Phase 2 212141-54-3 151194
6 Fluorodeoxyglucose F18 Phase 2
7 Pharmaceutical Solutions Phase 2
8 Angiogenesis Inhibitors Phase 2
9 pancreatin Phase 2
10 Protein Kinase Inhibitors Phase 2
11 Immunologic Factors Phase 2
12 Freund's Adjuvant Phase 2
13 Adjuvants, Immunologic Phase 2
14 Vaccines Phase 2
15
Histidine Investigational, Nutraceutical Phase 1, Phase 2 71-00-1 6274
16
Vorinostat Approved, Investigational Phase 1 149647-78-9 5311
17 Immunoglobulins Phase 1
18 Antibodies, Monoclonal Phase 1
19 Antibodies Phase 1
20 Histone Deacetylase Inhibitors Phase 1
21
Bevacizumab Approved, Investigational Early Phase 1 216974-75-3
22
Octreotide Approved, Investigational Early Phase 1 83150-76-9 6400441 383414
23
Phenylalanine Approved, Investigational, Nutraceutical Early Phase 1 63-91-2 6140
24 89Zr-bevacizumab
25 Mitogens
26 Endothelial Growth Factors
27 Antineoplastic Agents, Immunological Early Phase 1
28 Radiopharmaceuticals Early Phase 1
29 Antineoplastic Agents, Hormonal Early Phase 1
30 Edotreotide Early Phase 1
31 Gastrointestinal Agents Early Phase 1

Interventional clinical trials:

(show all 38)
# Name Status NCT ID Phase Drugs
1 Electromagnetic Tracking of Devices During Interventional Procedures Enrolling by invitation NCT00102544 Phase 3
2 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 Completed NCT02859441 Phase 1, Phase 2 Ranibizumab;E10030
3 A Phase II Open-Label Study of Oral, Continuous, Once Daily PTK787/ZK 222584 in Patients With Von Hippel-Lindau Disease (VHL) and Hemangioblastoma (HB) Completed NCT00052013 Phase 2 PTK787/ZK 222584
4 A Single-arm, Phase II Study of Sunitinib in Patients With Von Hippel-Lindau (VHL) Disease Completed NCT01168440 Phase 2 Sunitinib
5 A Phase II Study of 17-Allylamino-17-Demethoxygeldanamycin in Patients With Von Hippel Lindau Disease and Renal Tumors Completed NCT00088374 Phase 2 17 allylamino-17-demethoxygeldanamycin;18 FDG (Fludeoxyglucose 18F);[15-O] H2O;EPL diluent
6 A Phase 2 Study of ZD6474 (Vandetanib) in Patients With Von Hippel Lindau Disease and Renal Tumors Completed NCT00566995 Phase 2 ZACTIMA (Vandetanib) (ZD6474)
7 Treatment of Exudative and Vasogenic Chorioretinal Diseases Including Variants of AMD and Other CNV Related Maculopathy With Intravitreal Injection of Lucentis (Ranibizumab Injection) Completed NCT00470977 Phase 1, Phase 2 ranibizumab injection (0.5 mg)
8 Evaluation of (68)Gallium- DOTATATE PET/CT for Detecting Primary and Metastatic Neuroendocrine Tumors Completed NCT01967537 Phase 2 68Gallium DOTATATE
9 Evaluation of the Natural History and Management of Von Hippel-Lindau (VHL) Associated Pancreatic Neuroendocrine Tumors Recruiting NCT04074135 Phase 2 68-Gallium DOTATATE
10 Double-Center Cross-Sectional Study of Contrast-Enhanced Ultrasound With Lumason/Definity as a Screening Tool for Kidney Cancer in Patients With Von-Hippel Lindau Recruiting NCT03907657 Phase 2 Perflutren lipid microsphere;Sulfur hexafluoride lipid microspheres
11 An Open-Label Phase 2 Study to Evaluate PT2977 for the Treatment of Von Hippel Lindau Disease-Associated Renal Cell Carcinoma Active, not recruiting NCT03401788 Phase 2 Belzutifan
12 A Phase II Trial of Pazopanib in Von Hippel-Lindau Syndrome Active, not recruiting NCT01436227 Phase 2 Pazopanib Hydrochloride
13 An Open Label Phase 2 Study to Evaluate PT2385 for the Treatment of Von Hippel-Lindau Disease-Associated Clear Cell Renal Cell Carcinoma Active, not recruiting NCT03108066 Phase 2 PT2385 Tablets
14 A Phase 2 Study of SU011248 (Sunitinib Malate) in Von Hippel-Lindau Syndrome Terminated NCT00330564 Phase 2 SU011248
15 A Pilot Trial of TKI 258 (Dovitinib) in Von Hippel-Lindau Syndrome Terminated NCT01266070 Phase 2 Dovitinib
16 Pilot Study of Sunitinib Malate for Advanced Ocular Disease of Von Hippel-Lindau Syndrome Terminated NCT00673816 Phase 1, Phase 2 Sunitinib Malate
17 Vaccine Therapy With Tumor Specific Mutated VHL Peptides in Adult Cancer Patients With Renal Cell Carcinoma Terminated NCT00001703 Phase 2
18 PET Imaging Of Renal Cell Carcinoma With 18F-VM4-037: A Phase II Pilot Study For Detection Of Disease And Correlation With VHL Mutation Status Terminated NCT01712685 Phase 2 18F-VM4-037
19 Pilot Study of Intravitreal Injection of Ranibizumab (rhuFAB V2) for Advanced Ocular Disease of Von Hippel-Lindau (VHL) Disease Completed NCT00089765 Phase 1 Ranibizumab
20 Pilot Study of Intravitreal Injection of EYE001 (Anti-VEGF Pegylated Aptamer) for Advanced Ocular Disease of Von Hippel-Lindau (VHL) Disease Completed NCT00056199 Phase 1 EYE001
21 Pilot Study of the Effect of Vorinostat on Nervous System Hemangioblastomas In Von Hippel-Lindau Disease Completed NCT02108002 Phase 1 Vorinostat
22 Assessment of Residual VHL Function in Tumors - Can it Predict the Patients' Individual Course of Disease? Unknown status NCT02207686
23 Psychosocial Consequences of the Screening of Von Hippel Lindau Diseases for Patients Operated for a hémangioblastoma of Nervous Centrasl System Unknown status NCT02120040
24 Genetic Mutation Analysis In A VHL Population Completed NCT00075348
25 Visualizing VEGF Producing Lesions in Von Hippel-Lindau Disease Completed NCT00970970
26 Evaluation of the Natural History and Management of Pancreatic Lesions Associated With Von Hippel-Lindau Completed NCT00062166
27 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
28 An International Collaborative Study: Screening for Endolymphatic Sac Tumours (ELSTs) in Von Hippel-Lindau (vHL) Patients Recruiting NCT02420067
29 Von Hippel-Lindau (VHL): Clinical Manifestations, Diagnosis, Management and Molecular Bases of Inherited Renal and Other Urologic Malignant Disorders Recruiting NCT00001238
30 MyVHL: Patient Natural History Study Recruiting NCT03749980
31 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
32 NEI Intramural Biorepository for Retinal Diseases Recruiting NCT01496625
33 A Prospective Natural History Study of VHL Patients With CNS Hemangioblastomas Active, not recruiting NCT00005902
34 Retrospective Case Series of Trans-scleral Cryotherapy for Retinal Hemangioblastoma Active, not recruiting NCT04458935
35 Drivers of Hypoxia-induced Angiogenesis in Tumor Development Enrolling by invitation NCT03979833
36 Von Hippel-Lindau (VHL) Disease Genetic Epidemiology Study Terminated NCT00001803
37 D0904 - A Pilot Study of Bevacizumab (Avastin) in Patients With Unresectable or Recurrent Hemangioblastoma From Von Hippel-Lindau Disease. Terminated NCT01015300 Early Phase 1 Avastin
38 An Expanded Access Imaging of Neuroendocrine Tumors Using 68Ga-DOTA-TOC Terminated NCT03001349 Early Phase 1 Gallium Ga 68-Edotreotide

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:

40
Pancreas, Spinal Cord, Kidney, Eye, Retina, Adrenal Gland, Endothelial

Publications for Von Hippel-Lindau Syndrome

Articles related to Von Hippel-Lindau Syndrome:

(show top 50) (show all 2666)
# Title Authors PMID Year
1
Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease. 6 61 57 25
29891534 2018
2
Genetic analysis of von Hippel-Lindau disease. 57 25 6 61
20151405 2010
3
Functioning carotid paraganglioma in the von Hippel-Lindau syndrome. 25 61 6 57
9880225 1998
4
Genotype-phenotype correlations in VHL exon deletions. 25 57 6
19764026 2009
5
Family history of von Hippel-Lindau disease was uncommon in Chinese patients: suggesting the higher frequency of de novo mutations in VHL gene in these patients. 6 61 57
22357542 2012
6
Germline mutations in the von Hippel-Lindau gene in Italian patients. 6 61 57
19464396 2009
7
Alu-Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients. 57 61 6
19280651 2009
8
Genotype-phenotype correlations in von Hippel-Lindau disease. 6 57 61
17024664 2007
9
Renal cell carcinoma risk in type 2 von Hippel-Lindau disease correlates with defects in pVHL stability and HIF-1alpha interactions. 61 54 25 6
16261165 2006
10
Genetic and functional analysis of the von Hippel-Lindau (VHL) tumour suppressor gene promoter. 57 6 61
12114475 2002
11
Mosaicism in von Hippel-Lindau disease: lessons from kindreds with germline mutations identified in offspring with mosaic parents. 54 61 25 57
10631138 2000
12
Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. 57 61 6
9829911 1998
13
Genotype-phenotype correlation in von Hippel-Lindau disease: identification of a mutation associated with VHL type 2A. 61 57 6
8863170 1996
14
Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. 6 57 61
8956040 1996
15
Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. 57 6 61
7728151 1995
16
Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype. 61 57 6
7987306 1994
17
Detailed mapping of germline deletions of the von Hippel-Lindau disease tumour suppressor gene. 61 6 57
8069305 1994
18
Molecular genetic investigations of the mechanism of tumourigenesis in von Hippel-Lindau disease: analysis of allele loss in VHL tumours. 57 6 61
8270255 1994
19
Three-decade investigation of familial pheochromocytoma. An allele of von Hippel-Lindau disease? 61 6 57
8239848 1993
20
Identification of the von Hippel-Lindau disease tumor suppressor gene. 6 57 61
8493574 1993
21
Preventive medicine of von Hippel-Lindau disease-associated pancreatic neuroendocrine tumors. 25 6 61
29748190 2018
22
Von Hippel-Lindau disease: an evaluation of natural history and functional disability. 6 61 25
26763786 2016
23
Mosaicism in von Hippel-Lindau disease with severe renal manifestations. 61 25 6
23384228 2013
24
Surgical resection of endolymphatic sac tumors in von Hippel-Lindau disease: findings, results, and indications. 61 25 6
23070752 2013
25
Pilot trial of sunitinib therapy in patients with von Hippel-Lindau disease. 6 25 61
22105611 2011
26
Functional and oncologic outcomes of partial adrenalectomy for pheochromocytoma in patients with von Hippel-Lindau syndrome after at least 5 years of followup. 61 25 6
20846682 2010
27
Mosaicism in von Hippel-Lindau disease: an event important to recognize. 25 61 6
18205710 2007
28
Salvage external beam radiotherapy of retinal capillary hemangiomas secondary to von Hippel-Lindau disease: visual and anatomic outcomes. 61 25 57
14711727 2004
29
Solid renal tumor severity in von Hippel Lindau disease is related to germline deletion length and location. 61 25 57
14695531 2004
30
Tat-binding protein-1, a component of the 26S proteasome, contributes to the E3 ubiquitin ligase function of the von Hippel-Lindau protein. 6 57
14556007 2003
31
VHL2C phenotype in a German von Hippel-Lindau family with concurrent VHL germline mutations P81S and L188V. 6 61 25
12414898 2002
32
Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study. 61 25 6
12202531 2002
33
von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF. 6 57
11331612 2001
34
Genotype-phenotype correlations in families with deletions in the von Hippel-Lindau (VHL) gene. 6 57
10830910 2000
35
A family with hydrocephalus as a complication of cerebellar hemangioblastoma: identification of Pro157Leu mutation in the VHL gene. 57 6
10697963 2000
36
Two distinct phenotypes caused by two different missense mutations in the same codon of the VHL gene. 57 6
10533030 1999
37
Clinical characteristics of ocular angiomatosis in von Hippel-Lindau disease and correlation with germline mutation. 61 6 25
10088816 1999
38
Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC. 6 57
10408776 1999
39
Von Hippel-Lindau (VHL) disease with pheochromocytoma in the Black Forest region of Germany: evidence for a founder effect. 6 57
7759077 1995
40
Von Hippel-Lindau disease: a genetic study. 25 57 61
1895313 1991
41
Familial pheochromocytoma. 57 6
13985160 1962
42
Risk of new tumors in von Hippel-Lindau patients depends on age and genotype. 57 25
25834951 2016
43
VHL mosaicism can be detected by clinical next-generation sequencing and is not restricted to patients with a mild phenotype. 25 6
24301059 2014
44
Calculating optimal surveillance for detection of von Hippel-Lindau-related manifestations. 6 25
24132471 2014
45
Hemangioblastomas and neurogenic polyglobulia. 6 25
23407287 2013
46
Local-regional recurrence of sporadic or syndromic abdominal extra-adrenal paraganglioma: incidence, characteristics, and outcome. 54 61 6
19958924 2009
47
Denaturing high performance liquid chromatography detection of SDHB, SDHD, and VHL germline mutations in pheochromocytoma. 61 54 6
19215943 2009
48
Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. 61 54 6
19336503 2009
49
VHL mutations linked to type 2C von Hippel-Lindau disease cause extensive structural perturbations in pVHL. 54 61 6
19228690 2009
50
Computational detection of deleterious SNPs and their effect on sequence and structural level of the VHL gene. 61 6 54
18836774 2008

Variations for Von Hippel-Lindau Syndrome

ClinVar genetic disease variations for Von Hippel-Lindau Syndrome:

6 (show top 50) (show all 1205)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 VHL NM_198156.3(VHL):c.223_225del (p.Ile75del) Deletion Pathogenic 2214 rs794729660 GRCh37: 3:10183752-10183754
GRCh38: 3:10142068-10142070
2 LOC107303340 , VHL NM_000551.4(VHL):c.340+617C>G SNV Pathogenic 816687 rs1575923261 GRCh37: 3:10184488-10184488
GRCh38: 3:10142804-10142804
3 VHL NM_000551.3(VHL):c.206dup (p.Glu70fs) Duplication Pathogenic 478820 rs1553619415 GRCh37: 3:10183736-10183737
GRCh38: 3:10142052-10142053
4 LOC107303340 , VHL NM_198156.3(VHL):c.341-3209A>C SNV Pathogenic 2221 rs119103278 GRCh37: 3:10188262-10188262
GRCh38: 3:10146578-10146578
5 LOC107303340 , VHL NM_198156.3(VHL):c.341-3206del Deletion Pathogenic 43601 rs397516442 GRCh37: 3:10188263-10188263
GRCh38: 3:10146579-10146579
6 LOC107303340 , VHL NM_198156.3(VHL):c.341-3237del Deletion Pathogenic 456565 rs1553619952 GRCh37: 3:10188234-10188234
GRCh38: 3:10146550-10146550
7 LOC107303340 , VHL NM_198156.3(VHL):c.341-3263del Deletion Pathogenic 223197 rs869025640 GRCh37: 3:10188207-10188207
GRCh38: 3:10146523-10146523
8 VHL NM_000551.3(VHL):c.293dup (p.Tyr98Ter) Duplication Pathogenic 223177 rs869025624 GRCh37: 3:10183823-10183824
GRCh38: 3:10142139-10142140
9 LOC107303340 , VHL NM_000551.3(VHL):c.485G>A (p.Cys162Tyr) SNV Pathogenic 223225 rs397516444 GRCh37: 3:10191492-10191492
GRCh38: 3:10149808-10149808
10 LOC107303340 , VHL NM_198156.3(VHL):c.341-3183del Deletion Pathogenic 223209 rs869025651 GRCh37: 3:10188287-10188287
GRCh38: 3:10146603-10146603
11 LOC107303340 , VHL NM_198156.3(VHL):c.341-3170del Deletion Pathogenic 223212 rs869025653 GRCh37: 3:10188297-10188297
GRCh38: 3:10146613-10146613
12 LOC107303340 , VHL NM_000551.3(VHL):c.463+1G>C SNV Pathogenic 223217 rs869025657 GRCh37: 3:10188321-10188321
GRCh38: 3:10146637-10146637
13 VHL NM_000551.3(VHL):c.203C>A (p.Ser68Ter) SNV Pathogenic 223162 rs869025617 GRCh37: 3:10183734-10183734
GRCh38: 3:10142050-10142050
14 LOC107303340 , VHL NM_198156.3(VHL):c.341-3212del Deletion Pathogenic 223204 rs869025646 GRCh37: 3:10188258-10188258
GRCh38: 3:10146574-10146574
15 VHL NM_000551.3(VHL):c.296dup (p.Thr100fs) Duplication Pathogenic 223178 rs869025625 GRCh37: 3:10183824-10183825
GRCh38: 3:10142140-10142141
16 VHL NM_000551.3(VHL):c.309dup (p.Gly104fs) Duplication Pathogenic 223181 rs869025628 GRCh37: 3:10183839-10183840
GRCh38: 3:10142155-10142156
17 LOC107303340 , VHL NM_000551.3(VHL):c.445G>A (p.Ala149Thr) SNV Pathogenic 223213 rs587780077 GRCh37: 3:10188302-10188302
GRCh38: 3:10146618-10146618
18 LOC107303340 , VHL NM_000551.3(VHL):c.452T>G (p.Ile151Ser) SNV Pathogenic 223215 rs869025655 GRCh37: 3:10188309-10188309
GRCh38: 3:10146625-10146625
19 LOC107303340 , VHL NM_000551.3(VHL):c.341delG Deletion Pathogenic 223195 rs869025638 GRCh37: 3:10188197-10188197
GRCh38: 3:10146513-10146513
20 LOC107303340 , VHL NM_000551.3(VHL):c.464-1G>C SNV Pathogenic 223220 rs5030817 GRCh37: 3:10191470-10191470
GRCh38: 3:10149786-10149786
21 VHL NM_000551.3(VHL):c.335_340+5del Deletion Pathogenic 223188 rs869025632 GRCh37: 3:10183866-10183876
GRCh38: 3:10142182-10142192
22 VHL NM_000551.3(VHL):c.309del (p.Gly104fs) Deletion Pathogenic 223180 rs869025627 GRCh37: 3:10183840-10183840
GRCh38: 3:10142156-10142156
23 VHL NM_000551.3(VHL):c.189_192del (p.Arg64_Ser65insTer) Deletion Pathogenic 223205 rs869025647 GRCh37: 3:10183720-10183723
GRCh38: 3:10142036-10142039
24 LOC107303340 , VHL NM_198156.3(VHL):c.341-3170dup Duplication Pathogenic 223211 rs869025653 GRCh37: 3:10188296-10188297
GRCh38: 3:10146612-10146613
25 VHL NM_000551.3(VHL):c.340+2_340+6del Deletion Pathogenic 223191 rs869025634 GRCh37: 3:10183871-10183875
GRCh38: 3:10142187-10142191
26 VHL NM_000551.3(VHL):c.269del (p.Asn90fs) Deletion Pathogenic 223173 rs869025623 GRCh37: 3:10183799-10183799
GRCh38: 3:10142115-10142115
27 VHL NM_000551.3(VHL):c.340G>C (p.Gly114Arg) SNV Pathogenic 223193 rs869025636 GRCh37: 3:10183871-10183871
GRCh38: 3:10142187-10142187
28 VHL NM_000551.3(VHL):c.277G>T (p.Gly93Cys) SNV Pathogenic 223175 rs5030808 GRCh37: 3:10183808-10183808
GRCh38: 3:10142124-10142124
29 VHL NM_000551.3(VHL):c.221del (p.Val74fs) Deletion Pathogenic 223165 rs869025620 GRCh37: 3:10183752-10183752
GRCh38: 3:10142068-10142068
30 VHL NM_000551.3(VHL):c.300dup (p.Leu101fs) Duplication Pathogenic 223179 rs869025626 GRCh37: 3:10183830-10183831
GRCh38: 3:10142146-10142147
31 LOC107303340 , VHL NM_000551.3(VHL):c.374A>C (p.His125Pro) SNV Pathogenic 223201 rs869025643 GRCh37: 3:10188231-10188231
GRCh38: 3:10146547-10146547
32 LOC107303340 , VHL NM_000551.3(VHL):c.464-1G>T SNV Pathogenic 223221 rs5030817 GRCh37: 3:10191470-10191470
GRCh38: 3:10149786-10149786
33 VHL NM_000551.3(VHL):c.232A>C (p.Asn78His) SNV Pathogenic 625225 rs869025621 GRCh37: 3:10183763-10183763
GRCh38: 3:10142079-10142079
34 VHL NM_000551.3(VHL):c.232A>G (p.Asn78Asp) SNV Pathogenic 625226 rs869025621 GRCh37: 3:10183763-10183763
GRCh38: 3:10142079-10142079
35 VHL NM_000551.4(VHL):c.233del (p.Asn78fs) Deletion Pathogenic 625227 rs1559425925 GRCh37: 3:10183763-10183763
GRCh38: 3:10142079-10142079
36 VHL NM_000551.3(VHL):c.239_261del (p.Ser80fs) Deletion Pathogenic 625228 rs1559425951 GRCh37: 3:10183769-10183791
GRCh38: 3:10142085-10142107
37 VHL NM_000551.4(VHL):c.258dup (p.Val87fs) Duplication Pathogenic 625230 rs864622545 GRCh37: 3:10183786-10183787
GRCh38: 3:10142102-10142103
38 LOC107303340 , VHL NM_000551.3(VHL):c.454_463+17del Deletion Pathogenic 223216 rs869025656 GRCh37: 3:10188311-10188337
GRCh38: 3:10146627-10146653
39 VHL NM_000551.4(VHL):c.292_295del (p.Tyr98fs) Deletion Pathogenic 625234 rs1559426095 GRCh37: 3:10183821-10183824
GRCh38: 3:10142137-10142140
40 VHL NM_000551.3(VHL):c.294C>G (p.Tyr98Ter) SNV Pathogenic 625235 rs1559426115 GRCh37: 3:10183825-10183825
GRCh38: 3:10142141-10142141
41 VHL NM_000551.3(VHL):c.304_305dup (p.Pro103fs) Duplication Pathogenic 625236 rs1559426145 GRCh37: 3:10183834-10183835
GRCh38: 3:10142150-10142151
42 LOC107303340 , VHL NM_000551.4(VHL):c.346dup (p.Leu116fs) Duplication Pathogenic 625238 rs1559428051 GRCh37: 3:10188201-10188202
GRCh38: 3:10146517-10146518
43 LOC107303340 , VHL NM_000551.3(VHL):c.350G>A (p.Trp117Ter) SNV Pathogenic 625239 rs1559428056 GRCh37: 3:10188207-10188207
GRCh38: 3:10146523-10146523
44 LOC107303340 , VHL NM_000551.4(VHL):c.381del (p.Leu128fs) Deletion Pathogenic 625241 rs1559428107 GRCh37: 3:10188236-10188236
GRCh38: 3:10146552-10146552
45 LOC107303340 , VHL NM_198156.3(VHL):c.341-3221_341-3220dup Duplication Pathogenic 625243 rs1559428128 GRCh37: 3:10188249-10188250
GRCh38: 3:10146565-10146566
46 LOC107303340 , VHL NM_000551.3(VHL):c.394C>T (p.Gln132Ter) SNV Pathogenic 288749 rs5030813 GRCh37: 3:10188251-10188251
GRCh38: 3:10146567-10146567
47 LOC107303340 , VHL NM_000551.4(VHL):c.397del (p.Thr133fs) Deletion Pathogenic 625244 rs1559428134 GRCh37: 3:10188252-10188252
GRCh38: 3:10146568-10146568
48 LOC107303340 , VHL NM_000551.4(VHL):c.413del (p.Pro138fs) Deletion Pathogenic 625245 rs1559428164 GRCh37: 3:10188269-10188269
GRCh38: 3:10146585-10146585
49 LOC107303340 , VHL NM_000551.3(VHL):c.433C>T (p.Gln145Ter) SNV Pathogenic 625249 rs749704215 GRCh37: 3:10188290-10188290
GRCh38: 3:10146606-10146606
50 LOC107303340 , VHL NM_000551.4(VHL):c.445dup (p.Ala149fs) Duplication Pathogenic 625250 rs1559428232 GRCh37: 3:10188301-10188302
GRCh38: 3:10146617-10146618

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

72 (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 rs155942591
9 VHL p.Phe76Leu VAR_005680
10 VHL p.Phe76Ser VAR_005681 rs730882033
11 VHL p.Asn78His VAR_005682 rs869025621
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 rs786202787
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 rs155361943
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 rs155361944
30 VHL p.Gly93Ser VAR_005705 rs5030808
31 VHL p.Gln96Pro VAR_005706 rs155942608
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 rs155361946
36 VHL p.Arg107Pro VAR_005713 rs193922609
37 VHL p.Ser111Cys VAR_005714 rs155942620
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 rs869025636
44 VHL p.His115Tyr VAR_005722 rs5030811
45 VHL p.His115Gln VAR_005723 rs864622646
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 rs5030830
50 VHL p.Phe119Leu VAR_005728 rs155361994

Cosmic variations for Von Hippel-Lindau Syndrome:

9 (show top 50) (show all 6629)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM143616890 ZNF804A kidney,NS,carcinoma,clear cell renal cell carcinoma c.2108A>C p.Q703P 2:184937759-184937759 12
2 COSM88579140 ZNF804A kidney,NS,carcinoma,clear cell renal cell carcinoma c.2363A>C p.Q788P 2:184937759-184937759 12
3 COSM88566796 ZNF804A kidney,NS,carcinoma,clear cell renal cell carcinoma c.121G>C p.E41Q 2:184866378-184866378 12
4 COSM143612455 ZNF804A kidney,NS,carcinoma,clear cell renal cell carcinoma c.-135G>C p.? 2:184866378-184866378 12
5 COSM100952565 ZNF800 kidney,NS,carcinoma,clear cell renal cell carcinoma c.719A>G p.N240S 7:127374617-127374617 12
6 COSM100946000 ZNF800 kidney,NS,carcinoma,clear cell renal cell carcinoma c.719A>G p.N240S 7:127374617-127374617 12
7 COSM85796182 ZNF800 kidney,NS,carcinoma,clear cell renal cell carcinoma c.719A>G p.N240S 7:127374617-127374617 12
8 COSM144685741 ZNF800 kidney,NS,carcinoma,clear cell renal cell carcinoma c.719A>G p.N240S 7:127374617-127374617 12
9 COSM131496685 ZNF521 kidney,NS,carcinoma,clear cell renal cell carcinoma c.3298A>G p.S1100G 18:25224620-25224620 12
10 COSM94790253 ZNF521 kidney,NS,carcinoma,clear cell renal cell carcinoma c.3298A>G p.S1100G 18:25224620-25224620 12
11 COSM140713700 ZNF521 kidney,NS,carcinoma,clear cell renal cell carcinoma c.2638A>G p.S880G 18:25224620-25224620 12
12 COSM84285389 ZNF423 kidney,NS,carcinoma,clear cell renal cell carcinoma c.3559G>A p.V1187I 16:49626188-49626188 12
13 COSM132161238 ZNF423 kidney,NS,carcinoma,clear cell renal cell carcinoma c.3208G>A p.V1070I 16:49626188-49626188 12
14 COSM136721462 ZNF423 kidney,NS,carcinoma,clear cell renal cell carcinoma c.3379G>A p.V1127I 16:49626188-49626188 12
15 COSM136000826 ZNF423 kidney,NS,carcinoma,clear cell renal cell carcinoma c.3379G>A p.V1127I 16:49626188-49626188 12
16 COSM137730910 ZNF423 kidney,NS,carcinoma,clear cell renal cell carcinoma c.3208G>A p.V1070I 16:49626188-49626188 12
17 COSM137390699 ZNF423 kidney,NS,carcinoma,clear cell renal cell carcinoma c.3559G>A p.V1187I 16:49626188-49626188 12
18 COSM137183617 ZNF423 kidney,NS,carcinoma,clear cell renal cell carcinoma c.3379G>A p.V1127I 16:49626188-49626188 12
19 COSM149268221 ZFHX3 kidney,NS,carcinoma,clear cell renal cell carcinoma c.745G>A p.G249S 16:72959401-72959401 12
20 COSM102022298 ZFHX3 kidney,NS,carcinoma,clear cell renal cell carcinoma c.4310G>A p.C1437Y 16:72795630-72795630 12
21 COSM102022947 ZFHX3 kidney,NS,carcinoma,clear cell renal cell carcinoma c.-23-8436G>A p.? 16:72959401-72959401 12
22 COSM87274133 ZFHX3 kidney,NS,carcinoma,clear cell renal cell carcinoma c.745G>A p.G249S 16:72959401-72959401 12
23 COSM87273419 ZFHX3 kidney,NS,carcinoma,clear cell renal cell carcinoma c.7052G>A p.C2351Y 16:72795630-72795630 12
24 COSM149266502 ZFHX3 kidney,NS,carcinoma,clear cell renal cell carcinoma c.7052G>A p.C2351Y 16:72795630-72795630 12
25 COSM152022098 YES1 kidney,NS,carcinoma,clear cell renal cell carcinoma c.1069T>A p.L357I 18:739803-739803 12
26 COSM89895108 YES1 kidney,NS,carcinoma,clear cell renal cell carcinoma c.1069T>A p.L357I 18:739803-739803 12
27 COSM136836927 YES1 kidney,NS,carcinoma,clear cell renal cell carcinoma c.1084T>A p.L362I 18:739803-739803 12
28 COSM133267864 YAP1 kidney,NS,carcinoma,clear cell renal cell carcinoma c.374C>G p.A125G 11:102114196-102114196 12
29 COSM143036610 YAP1 kidney,NS,carcinoma,clear cell renal cell carcinoma c.374C>G p.A125G 11:102114196-102114196 12
30 COSM145023517 YAP1 kidney,NS,carcinoma,clear cell renal cell carcinoma c.374C>G p.A125G 11:102114196-102114196 12
31 COSM127993611 YAP1 kidney,NS,carcinoma,clear cell renal cell carcinoma c.374C>G p.A125G 11:102114196-102114196 12
32 COSM90943050 YAP1 kidney,NS,carcinoma,clear cell renal cell carcinoma c.374C>G p.A125G 11:102114196-102114196 12
33 COSM126968507 YAP1 kidney,NS,carcinoma,clear cell renal cell carcinoma c.-161C>G p.? 11:102114196-102114196 12
34 COSM85232102 YAP1 kidney,NS,carcinoma,clear cell renal cell carcinoma c.374C>G p.A125G 11:102114196-102114196 12
35 COSM128447153 YAP1 kidney,NS,carcinoma,clear cell renal cell carcinoma c.374C>G p.A125G 11:102114196-102114196 12
36 COSM94289984 XIAP kidney,NS,carcinoma,clear cell renal cell carcinoma c.1001A>T p.K334M 23:123891261-123891261 12
37 COSM108083403 XIAP kidney,NS,carcinoma,clear cell renal cell carcinoma c.1001A>T p.K334M 23:123891261-123891261 12
38 COSM92180300 XIAP kidney,NS,carcinoma,clear cell renal cell carcinoma c.1001A>T p.K334M 23:123891261-123891261 12
39 COSM108082894 XIAP kidney,NS,carcinoma,renal cell carcinoma unclassified c.563G>C p.G188A 23:123886225-123886225 12
40 COSM92179769 XIAP kidney,NS,carcinoma,renal cell carcinoma unclassified c.563G>C p.G188A 23:123886225-123886225 12
41 COSM94289415 XIAP kidney,NS,carcinoma,renal cell carcinoma unclassified c.563G>C p.G188A 23:123886225-123886225 12
42 COSM137057201 WWP2 kidney,NS,carcinoma,clear cell renal cell carcinoma c.739G>C p.E247Q 16:69936391-69936391 12
43 COSM96278984 WWP2 kidney,NS,carcinoma,clear cell renal cell carcinoma c.2056G>C p.E686Q 16:69936391-69936391 12
44 COSM92965606 WWP2 kidney,NS,carcinoma,clear cell renal cell carcinoma c.1708G>C p.E570Q 16:69936391-69936391 12
45 COSM149735880 WT1 kidney,NS,carcinoma,clear cell renal cell carcinoma c.536C>A p.P179H 11:32434810-32434810 12
46 COSM91370315 WT1 kidney,NS,carcinoma,clear cell renal cell carcinoma c.1432+1G>C p.? 11:32391971-32391971 12
47 COSM113481676 WT1 kidney,NS,carcinoma,clear cell renal cell carcinoma c.536C>A p.P179H 11:32434810-32434810 12
48 COSM111527817 WT1 kidney,NS,carcinoma,clear cell renal cell carcinoma c.1372+10G>C p.? 11:32391971-32391971 12
49 COSM130509133 WT1 kidney,NS,carcinoma,clear cell renal cell carcinoma c.745+1G>C p.? 11:32391971-32391971 12
50 COSM148578314 WT1 kidney,NS,carcinoma,clear cell renal cell carcinoma c.1423+10G>C p.? 11:32391971-32391971 12

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

7
# CNVD ID Chromosome 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:

36
# 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 14)
# Super pathways Score Top Affiliating Genes
1 12.59 VHL VEGFA RET HIF1A ELOB CUL2
2
Show member pathways
12.25 VHL VEGFA NF1 HIF1A ELOB CUL2
3
Show member pathways
11.71 SDHD SDHC SDHB
4 11.69 VHL VEGFA HIF1A ELOB CUL2
5
Show member pathways
11.65 VHL VEGFA HIF1A
6
Show member pathways
11.5 VEGFA HIF1A CCND1
7 11.34 VEGFA HIF1A CCND1
8 11.29 VEGFA RET NF1
9 11.11 VHL VEGFA ELOB
10 11.09 VHL VEGFA HIF1A ELOB CUL2
11 10.91 SLC6A2 SLC18A1 NPY
12 10.77 VHL VEGFA
13 10.45 VEGFA HIF1A
14 10.1 VHL HIF1A ELOB CUL2

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 9.54 VEGFA CHGB CHGA
2 Cul2-RING ubiquitin ligase complex GO:0031462 9.32 ELOB CUL2
3 neuronal dense core vesicle GO:0098992 9.26 NPY CHGA
4 VCB complex GO:0030891 9.16 ELOB CUL2
5 respiratory chain complex II GO:0045273 8.96 SDHC SDHB
6 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.8 SDHD SDHC SDHB

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

# Name GO ID Score Top Affiliating Genes
1 cerebral cortex development GO:0021987 9.63 NPY NF1 HIF1A
2 lactation GO:0007595 9.5 VEGFA HIF1A CCND1
3 mammary gland alveolus development GO:0060749 9.48 VEGFA CCND1
4 monoamine transport GO:0015844 9.43 SLC6A2 SLC18A1
5 tricarboxylic acid cycle GO:0006099 9.43 SDHD SDHC SDHB
6 post-translational protein modification GO:0043687 9.43 VHL MEN1 HIF1A ELOB CUL2 CHGB
7 positive regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061419 9.4 VEGFA HIF1A
8 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.37 SDHD SDHC
9 camera-type eye morphogenesis GO:0048593 9.33 VEGFA NF1 HIF1A
10 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 9.02 VHL VEGFA HIF1A ELOB CUL2

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

# Name GO ID Score Top Affiliating Genes
1 electron transfer activity GO:0009055 9.43 SDHD SDHC SDHB
2 monoamine transmembrane transporter activity GO:0008504 9.16 SLC6A2 SLC18A1
3 ubiquinone binding GO:0048039 8.96 SDHD SDHB
4 succinate dehydrogenase activity GO:0000104 8.62 SDHD SDHC

Sources for Von Hippel-Lindau Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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