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 56 12 24 52 25 58 73 36 29 13 6 39 71
Von Hippel-Lindau Disease 12 74 24 52 25 53 58 73 54 42 43 15
Vhl Syndrome 24 52 25
Vhl 56 52 58
Von Hippel-Lindau Syndrome, Modifier of 56 6
Cerebelloretinal Angiomatosis, Familial 25
Familial Cerebelloretinal Angiomatosis 58
Hippel Lindau Syndrome 12
Hippel-Lindau Disease 25
Angiomatosis Retinae 25
Von Hippel-Lindau 29
Lindau Disease 58
Vhls 56
Vhld 73

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:

56
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:

31
von hippel-lindau syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

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

Classifications:

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


Summaries for Von Hippel-Lindau Syndrome

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. 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 erythrocytosis, familial, 2, autosomal recessive, 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 Doxazosin and Phenoxybenzamine have been mentioned in the context of this disorder. Affiliated tissues include kidney, adrenal gland and pancreas, and related phenotypes are renal cell carcinoma and pancreatic cysts

NIH Rare Diseases : 52 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 : 56 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)

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 : 73 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 : 74 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 533)
# Related Disease Score Top Affiliating Genes
1 hemangioblastoma 33.7 VHL VEGFA INHA HIF1A
2 erythrocytosis, familial, 2, autosomal recessive 33.7 VHL HIF1A ELOB
3 clear cell renal cell carcinoma 33.0 VHL VEGFA SDHB HIF1A ELOB CCND1
4 hereditary paraganglioma-pheochromocytoma syndromes 32.9 VHL SDHD SDHC SDHB RET NF1
5 adrenal carcinoma 32.7 SDHD SDHB MEN1 CHGA CCND1
6 microcystic adenoma 32.6 VHL INHA CHGA
7 fumarate hydratase deficiency 32.3 VHL HIF1A
8 sporadic pheochromocytoma/secreting paraganglioma 32.2 VHL SDHD SDHB RET
9 acute mountain sickness 32.1 VHL VEGFA HIF1A
10 cerebellar angioblastoma 32.1 VHL SDHD SDHC SDHB MEN1
11 familial isolated hypoparathyroidism 31.9 VHL VEGFA HIF1A ELOB
12 esophagus leiomyoma 31.7 VHL SDHD SDHC SDHB RET NF1
13 angiomatosis 31.4 VHL TSC2
14 capillary hemangioma 31.4 VHL VEGFA HIF1A
15 islet cell tumor 31.4 RET MEN1 CHGA
16 multiple endocrine neoplasia 31.4 VHL SDHC SDHB RET MEN1
17 central nervous system hemangioma 31.3 VEGFA RET
18 polycythemia 31.3 VHL VEGFA HIF1A
19 cystadenoma 31.3 VHL INHA HIF1A CHGA CCND1
20 endocrine organ benign neoplasm 31.2 VHL SDHD SDHC SDHB RET NF1
21 hypoxia 31.1 VHL VEGFA HIF1A CUL2
22 malignant pheochromocytoma 31.0 SDHB PNMT CHGA
23 adenoma 30.9 VHL RET MEN1 CHGA CCND1
24 hereditary renal cell carcinoma 30.9 TSC2 SDHB CUL2
25 non-functioning pancreatic endocrine tumor 30.9 MEN1 CHGA
26 somatostatinoma 30.9 NF1 MEN1 CHGA
27 neurofibromatosis 30.9 VHL SDHD SDHB RET NF1
28 carcinoid tumors, intestinal 30.8 MEN1 CHGB CHGA
29 retinal hemangioblastoma 30.8 VHL VEGFA HIF1A ELOB CUL2
30 pancreatic gastrinoma 30.8 MEN1 CHGA
31 thyroid gland medullary carcinoma 30.8 RET MEN1 CHGA
32 ovarian serous cystadenocarcinoma 30.8 VEGFA NF1 HIF1A CCND1
33 paragangliomas 1 30.7 SDHD SDHC SDHB RET CHGA
34 extra-adrenal pheochromocytoma 30.7 SDHD SDHC SDHB RET PNMT NF1
35 colorectal adenocarcinoma 30.7 VEGFA HIF1A CHGA CCND1
36 primary hyperparathyroidism 30.7 RET MEN1 CHGA CCND1
37 pheochromocytoma-paraganglioma 30.6 VHL SDHD SDHC SDHB RET PNMT
38 adrenal cortical adenoma 30.6 SDHD MEN1 INHA CHGA
39 duodenal somatostatinoma 30.6 NF1 MEN1
40 ganglioneuroma 30.6 RET PNMT CHGA
41 thyroid carcinoma, familial medullary 30.6 VHL RET MEN1 CHGB CHGA
42 carney complex variant 30.5 SDHD RET NF1 MEN1
43 ganglioglioma 30.5 TSC2 NF1 CHGA
44 kidney cancer 30.5 VHL VEGFA TSC2 SDHB HIF1A ELOB
45 neural crest tumor 30.5 SDHD SDHC SDHB
46 peutz-jeghers syndrome 30.5 TSC2 INHA HIF1A
47 carcinoid syndrome 30.5 VEGFA SDHD NPY MEN1 CHGA
48 cowden syndrome 1 30.5 TSC2 SDHB RET NF1
49 renal cell carcinoma, nonpapillary 30.5 VHL VEGFA TSC2 SDHC SDHB RET
50 hemangioma 30.4 VHL VEGFA TSC2 RET MEN1 HIF1A

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 top 50) (show all 69)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal cell carcinoma 58 31 hallmark (90%) Frequent (79-30%) HP:0005584
2 pancreatic cysts 58 31 hallmark (90%) Occasional (29-5%) HP:0001737
3 retinal capillary hemangioma 58 31 hallmark (90%) Frequent (79-30%) HP:0009711
4 neurological speech impairment 31 hallmark (90%) HP:0002167
5 sensorineural hearing impairment 31 hallmark (90%) HP:0000407
6 nystagmus 31 hallmark (90%) HP:0000639
7 arteriovenous malformation 31 hallmark (90%) HP:0100026
8 aplasia/hypoplasia of the cerebellum 31 hallmark (90%) HP:0007360
9 abnormality of the cerebral vasculature 31 hallmark (90%) HP:0100659
10 visceral angiomatosis 31 hallmark (90%) HP:0100761
11 abnormal retinal vascular morphology 31 hallmark (90%) HP:0008046
12 papillary cystadenoma of the epididymis 58 31 frequent (33%) Occasional (29-5%) HP:0009715
13 hydrocephalus 31 frequent (33%) HP:0000238
14 gait disturbance 31 frequent (33%) HP:0001288
15 sensory neuropathy 31 frequent (33%) HP:0000763
16 ataxia 31 frequent (33%) HP:0001251
17 hemiplegia/hemiparesis 31 frequent (33%) HP:0004374
18 telangiectasia of the skin 31 frequent (33%) HP:0100585
19 nausea and vomiting 31 frequent (33%) HP:0002017
20 polycystic kidney dysplasia 31 frequent (33%) HP:0000113
21 migraine 31 frequent (33%) HP:0002076
22 capillary hemangioma 31 frequent (33%) HP:0005306
23 multicystic kidney dysplasia 31 frequent (33%) HP:0000003
24 increased intracranial pressure 58 31 occasional (7.5%) Very rare (<4-1%) HP:0002516
25 hyperhidrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000975
26 arrhythmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011675
27 hypertension 58 31 occasional (7.5%) Frequent (79-30%) HP:0000822
28 retinal detachment 58 31 occasional (7.5%) Very rare (<4-1%) HP:0000541
29 multiple renal cysts 58 31 occasional (7.5%) Occasional (29-5%) HP:0005562
30 visual loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0000572
31 cataract 31 occasional (7.5%) HP:0000518
32 glaucoma 31 occasional (7.5%) HP:0000501
33 abnormality of the lymphatic system 31 occasional (7.5%) HP:0100763
34 pheochromocytoma 31 occasional (7.5%) HP:0002666
35 neoplasm of the middle ear 31 occasional (7.5%) HP:0100799
36 vertigo 58 31 Occasional (29-5%) HP:0002321
37 polycythemia 58 31 Very rare (<4-1%) HP:0001901
38 neoplasm of the pancreas 58 31 Very rare (<4-1%) HP:0002894
39 paraganglioma 58 31 Very rare (<4-1%) HP:0002668
40 epididymal cyst 58 31 Very rare (<4-1%) HP:0030424
41 cerebellar hemangioblastoma 58 31 Frequent (79-30%) HP:0006880
42 myocardial infarction 58 Very rare (<4-1%)
43 abdominal pain 58 Occasional (29-5%)
44 anxiety 58 Occasional (29-5%)
45 pallor 58 Occasional (29-5%)
46 back pain 58 Occasional (29-5%)
47 abnormality of the eye 58 Very frequent (99-80%)
48 stroke 58 Occasional (29-5%)
49 myocarditis 58 Very rare (<4-1%)
50 headache 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

56
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

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:

45 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.36 CCND1 CHGA CHGB HIF1A INHA MEN1
2 cardiovascular system MP:0005385 10.33 CCND1 CHGA HIF1A INHA MEN1 NF1
3 endocrine/exocrine gland MP:0005379 10.32 CCND1 CHGA CHGB HIF1A INHA MEN1
4 growth/size/body region MP:0005378 10.31 CCND1 CHGA HIF1A INHA MEN1 NF1
5 cellular MP:0005384 10.28 CCND1 HIF1A MEN1 NF1 RET SDHC
6 mortality/aging MP:0010768 10.25 CCND1 CHGA CUL2 HIF1A INHA MEN1
7 hematopoietic system MP:0005397 10.22 CCND1 HIF1A INHA NF1 RET SDHB
8 digestive/alimentary MP:0005381 10.18 CCND1 HIF1A INHA MEN1 NF1 NPY
9 neoplasm MP:0002006 10.1 CCND1 HIF1A INHA MEN1 NF1 RET
10 nervous system MP:0003631 10.07 CCND1 CHGA CHGB HIF1A MEN1 NF1
11 liver/biliary system MP:0005370 10.03 HIF1A INHA MEN1 NF1 NPY TSC2
12 muscle MP:0005369 9.97 CHGA HIF1A MEN1 NF1 RET SDHC
13 normal MP:0002873 9.97 CCND1 HIF1A INHA NF1 NPY PNMT
14 renal/urinary system MP:0005367 9.61 CHGA HIF1A NF1 NPY RET SDHB
15 reproductive system MP:0005389 9.28 CCND1 CHGA INHA MEN1 NF1 RET

Drugs & Therapeutics for Von Hippel-Lindau Syndrome

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

(show top 50) (show all 69)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxazosin Approved Phase 4 74191-85-8 3157
2
Phenoxybenzamine Approved Phase 4 59-96-1 4768
3 Adrenergic alpha-Antagonists Phase 4
4 Antihypertensive Agents Phase 4
5 Adrenergic Agents Phase 4
6 Adrenergic Antagonists Phase 4
7 Vasodilator Agents Phase 4
8 Adrenergic alpha-1 Receptor Antagonists Phase 4
9 Neurotransmitter Agents Phase 4
10
Tyrosine Approved, Investigational, Nutraceutical Phase 3 60-18-4 6057
11
Bevacizumab Approved, Investigational Phase 1, Phase 2 216974-75-3
12
Ranibizumab Approved Phase 1, Phase 2 347396-82-1 459903
13
Somatostatin Approved, Investigational Phase 2 38916-34-6, 51110-01-1 53481605
14
Everolimus Approved Phase 2 159351-69-6 70789204 6442177
15
Bortezomib Approved, Investigational Phase 2 179324-69-7 387447 93860
16
Iodine Approved, Investigational Phase 2 7553-56-2 807
17
Deferoxamine Approved, Investigational Phase 2 70-51-9 2973
18
Iron Approved, Experimental Phase 2 15438-31-0, 7439-89-6 27284 23925
19
Sunitinib Approved, Investigational Phase 1, Phase 2 557795-19-4, 341031-54-7 5329102
20
Pancrelipase Approved, Investigational Phase 2 53608-75-6
21
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
22
Peginterferon alfa-2b Approved Phase 2 99210-65-8, 215647-85-1
23
Gefitinib Approved, Investigational Phase 2 184475-35-2 123631
24
Vatalanib Investigational Phase 2 212141-54-3 151194
25 Antineoplastic Agents, Immunological Phase 1, Phase 2
26 Immunoglobulins Phase 2
27 Antibodies Phase 2
28 Antibodies, Monoclonal Phase 2
29 Fluorodeoxyglucose F18 Phase 2
30
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
31 cadexomer iodine Phase 2
32 Pharmaceutical Solutions Phase 2
33 Chelating Agents Phase 2
34 Iron Chelating Agents Phase 2
35 Protein Kinase Inhibitors Phase 1, Phase 2
36 Angiogenesis Inhibitors Phase 1, Phase 2
37 pancreatin Phase 2
38 Mitogens Phase 2
39 Endothelial Growth Factors Phase 2
40 Immunologic Factors Phase 2
41 Interferon alpha-2 Phase 2
42 interferons Phase 2
43 Interferon-alpha Phase 2
44 Antiviral Agents Phase 2
45
Histidine Investigational, Nutraceutical Phase 1, Phase 2 71-00-1 6274
46
Vorinostat Approved, Investigational Phase 1 149647-78-9 5311
47
Digoxin Approved Phase 1 20830-75-5 30322 2724385
48 Histone Deacetylase Inhibitors Phase 1
49 Cardiotonic Agents Phase 1
50 Anti-Arrhythmia Agents Phase 1

Interventional clinical trials:

(show top 50) (show all 59)
# Name Status NCT ID Phase Drugs
1 Pheochromocytoma Randomised Study Comparing Adrenoreceptor Inhibiting Agents for Preoperative Treatment Completed NCT01379898 Phase 4 Phenoxybenzamine;Doxazosin
2 A Phase 3, Randomized, Controlled Study of Cabozantinib (XL184) vs Everolimus in Subjects With Metastatic Renal Cell Carcinoma That Has Progressed After Prior VEGFR Tyrosine Kinase Inhibitor Therapy Unknown status NCT01865747 Phase 3 Cabozantinib tablets;Everolimus (Afinitor) tablets
3 Electromagnetic Tracking of Devices During Interventional Procedures Enrolling by invitation NCT00102544 Phase 3
4 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
5 A Single-arm, Phase II Study of Sunitinib in Patients With Von Hippel-Lindau (VHL) Disease Completed NCT01168440 Phase 2 Sunitinib
6 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
7 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
8 A Phase 2 Study of ZD6474 (Vandetanib) in Patients With Von Hippel Lindau Disease and Renal Tumors Completed NCT00566995 Phase 2 ZACTIMA (Vandetanib) (ZD6474)
9 Evaluation of (68)Gallium- DOTATATE PET/CT for Detecting Primary and Metastatic Neuroendocrine Tumors Completed NCT01967537 Phase 2 68Gallium DOTATATE
10 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)
11 A Novel Non-Invasive In Vivo Imaging System to Measure Retinal Metabolism Completed NCT00385333 Phase 2
12 A Phase II Trial of Mutation-Targeted Therapy With Sunitinib or Everolimus in Patients With Advanced Low-or Intermediate Grade Neuroendocrine Tumors of the Gastrointestinal Tract and Pancreas With or Without Cytoreductive Surgery Completed NCT02315625 Phase 2 Sunitinib;Everolimus
13 A Phase II Study of OSI-774 (NSC-718781) in Patients With Locally Advanced or Metastatic Papillary Histology Renal Cell Cancer Completed NCT00060307 Phase 2 erlotinib hydrochloride
14 A Phase II Study of Bortezomib (Velcade ) Administered as a Single Agent in Metastatic Non-Clear Cell Renal Cell Carcinoma (RCC) Patients Completed NCT00276614 Phase 2 bortezomib
15 pazopanib_NCRCC,Ph2 STUDY Completed NCT01538238 Phase 2 pazopanib
16 Brivanib (BMS-582664, Brivanib Alaninate) in Treatment of Refractory Metastatic Renal Cell Carcinoma - A Phase II Pharmacodynamic and Baseline Biomarker Study Completed NCT01253668 Phase 2 Brivanib alaninate
17 A Phase I/II Trial of BAY 43-9006 in Combination With Bevacizumab in Patients With Advanced Renal Cancer Completed NCT00126503 Phase 1, Phase 2 Sorafenib Tosylate
18 Evaluation of the Natural History and Management of Von Hippel-Lindau (VHL) Associated Pancreatic Neuroendocrine Tumors Recruiting NCT04074135 Phase 2 68-Gallium DOTATATE
19 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
20 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 PT2977
21 A Phase II Trial of Pazopanib in Von Hippel-Lindau Syndrome Active, not recruiting NCT01436227 Phase 2 Pazopanib
22 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
23 Effect of Deferoxamine on Wound Healing Rate in Patients With Diabetes Foot Ulcers Not yet recruiting NCT03137966 Phase 2 Deferoxamine;Placebo
24 Pilot Study of Sunitinib Malate for Advanced Ocular Disease of Von Hippel-Lindau Syndrome Terminated NCT00673816 Phase 1, Phase 2 Sunitinib Malate
25 A Phase 2 Study of SU011248 (Sunitinib Malate) in Von Hippel-Lindau Syndrome Terminated NCT00330564 Phase 2 SU011248
26 A Pilot Trial of TKI 258 (Dovitinib) in Von Hippel-Lindau Syndrome Terminated NCT01266070 Phase 2 Dovitinib
27 Activity and Safety of Third Line Tyrosin Kinase Inhibitor (TKI) After 2 Tyrosin Kinase Inhibitors (TKIs) in Patients With Metastatic Renal Cell Carcinoma (mRCC) (Tokio Study) Terminated NCT03456401 Phase 2 Sorafenib or Sunitinib
28 A Phase 2 Study of Pazopanib (GW786034) in Patients With Advanced and Progressive Malignant Pheochromocytoma or Paraganglioma Terminated NCT01340794 Phase 2 Pazopanib Hydrochloride
29 Phase II Trial of ZD1839 (IRESSA®) and Pegylated Interferon Alfa 2b (PEG-Intron™) in Unresectable or Metastatic Renal Cell Carcinoma Terminated NCT00467077 Phase 2 gefitinib
30 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
31 A Phase II Study of ZD6474 (Vandetanib) in Subjects With Advanced Clear Cell Renal Carcinoma Terminated NCT01372813 Phase 2 vandetanib
32 An Open-label, Fixed-dose, Clinical Study of Quinacrine Safety and Efficacy in the Treatment of Advanced Renal Cell Carcinoma Withdrawn NCT00574483 Phase 2 quinacrine
33 Pilot Study of Intravitreal Injection of Ranibizumab (rhuFAB V2) for Advanced Ocular Disease of Von Hippel-Lindau (VHL) Disease Completed NCT00089765 Phase 1 Ranibizumab
34 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
35 Pilot Study of the Effect of Vorinostat on Nervous System Hemangioblastomas In Von Hippel-Lindau Disease Completed NCT02108002 Phase 1 Vorinostat
36 Single-Arm, Dose-Finding Pilot Trial of Single-Agent Bortezomib in Patients With Relapsed/Refractory AIDS-Associated Kaposi Sarcoma With Correlative Assessments of KSHV and HIV Completed NCT01016730 Phase 1 Bortezomib
37 Phase 1 Study of Digoxin for Congenital Erythrocytosis Due to Up-Regulated Hypoxia Sensing Not yet recruiting NCT03433833 Phase 1 Digoxin
38 Assessment of Residual VHL Function in Tumors - Can it Predict the Patients' Individual Course of Disease? Unknown status NCT02207686
39 Psychosocial Consequences of the Screening of Von Hippel Lindau Diseases for Patients Operated for a hémangioblastoma of Nervous Centrasl System Unknown status NCT02120040
40 Genetic Mutation Analysis In A VHL Population Completed NCT00075348
41 Visualizing VEGF Producing Lesions in Von Hippel-Lindau Disease Completed NCT00970970
42 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
43 Evaluation of the Natural History and Management of Pancreatic Lesions Associated With Von Hippel-Lindau Completed NCT00062166
44 The Effect of Sorafenib (Nexavar®) on 111-Indium Labeled Chimeric Monoclonal Antibody G250 or 111-Indium Labeled Bevacizumab (Avastin®) Uptake in Patients With Clear Cell RCC (ccRCC) Completed NCT00602862 Sorafenib;111Indium-bevacizumab;111Indium-cG250
45 Prospective Analysis About the Utility of Contrast Enhanced Endoscopic Ultrasound and Molecular Analysis in the Study of Pancreatic Cyst Completed NCT03740360
46 89Zr-bevacizumab PET Imaging in Patients With Renal Cell Carcinoma Treated With Everolimus; a Pilot Study Completed NCT01028638
47 MyVHL: Patient Natural History Study Recruiting NCT03749980
48 An International Collaborative Study: Screening for Endolymphatic Sac Tumours (ELSTs) in Von Hippel-Lindau (vHL) Patients Recruiting NCT02420067
49 NEI Intramural Biorepository for Retinal Diseases Recruiting NCT01496625
50 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268

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

Publications for Von Hippel-Lindau Syndrome

Articles related to Von Hippel-Lindau Syndrome:

(show top 50) (show all 2472)
# Title Authors PMID Year
1
Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease. 56 6 61 24
29891534 2018
2
Functioning carotid paraganglioma in the von Hippel-Lindau syndrome. 24 6 56 61
9880225 1998
3
Genotype-phenotype correlations in von Hippel-Lindau disease. 6 56 61
17024664 2007
4
Mosaicism in von Hippel-Lindau disease: lessons from kindreds with germline mutations identified in offspring with mosaic parents. 61 56 54 24
10631138 2000
5
Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. 56 6 61
9829911 1998
6
Genotype-phenotype correlation in von Hippel-Lindau disease: identification of a mutation associated with VHL type 2A. 61 56 6
8863170 1996
7
Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. 61 56 6
8956040 1996
8
Molecular genetic investigations of the mechanism of tumourigenesis in von Hippel-Lindau disease: analysis of allele loss in VHL tumours. 6 56 61
8270255 1994
9
Three-decade investigation of familial pheochromocytoma. An allele of von Hippel-Lindau disease? 6 61 56
8239848 1993
10
Genetic analysis of von Hippel-Lindau disease. 61 56 24
20151405 2010
11
Solid renal tumor severity in von Hippel Lindau disease is related to germline deletion length and location. 61 56 24
14695531 2004
12
Salvage external beam radiotherapy of retinal capillary hemangiomas secondary to von Hippel-Lindau disease: visual and anatomic outcomes. 56 61 24
14711727 2004
13
VHL2C phenotype in a German von Hippel-Lindau family with concurrent VHL germline mutations P81S and L188V. 61 24 6
12414898 2002
14
Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study. 6 61 24
12202531 2002
15
Two distinct phenotypes caused by two different missense mutations in the same codon of the VHL gene. 6 56
10533030 1999
16
Von Hippel-Lindau (VHL) disease with pheochromocytoma in the Black Forest region of Germany: evidence for a founder effect. 56 6
7759077 1995
17
Von Hippel-Lindau disease: a genetic study. 61 56 24
1895313 1991
18
Familial pheochromocytoma. 56 6
13985160 1962
19
Risk of new tumors in von Hippel-Lindau patients depends on age and genotype. 24 56
25834951 2016
20
Genotype-phenotype correlations in VHL exon deletions. 24 56
19764026 2009
21
The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma. 6 24
16502427 2006
22
Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene. 6 24
12114495 2002
23
Germ-line mutations in nonsyndromic pheochromocytoma. 61 54 6
12000816 2002
24
Molecular diagnosis of von Hippel-Lindau disease in a kindred with a predominance of familial phaeochromocytoma. 6 54 61
9156047 1997
25
Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II. 54 6 61
7563486 1995
26
Genotype and phenotype correlation in von Hippel-Lindau disease based on alteration of the HIF-α binding site in VHL protein. 61 56
29595810 2018
27
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. 61 56
22357542 2012
28
Germline mutations in the von Hippel-Lindau gene in Italian patients. 61 56
19464396 2009
29
Alu-Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients. 61 56
19280651 2009
30
Mechanisms of morbid hearing loss associated with tumors of the endolymphatic sac in von Hippel-Lindau disease. 56 61
17609489 2007
31
Genotype-phenotype correlation in von Hippel-Lindau disease with retinal angiomatosis. 56 61
17296901 2007
32
Molecular pathology and CXCR4 expression in surgically excised retinal hemangioblastomas associated with von Hippel-Lindau disease. 61 56
17070589 2007
33
Von Hippel-Lindau disease. 24 54 61
18039096 2007
34
Renal cell carcinoma risk in type 2 von Hippel-Lindau disease correlates with defects in pVHL stability and HIF-1alpha interactions. 24 61 54
16261165 2006
35
Ocular manifestations of von Hippel-Lindau disease: clinical and genetic investigations. 56 61
17057815 2005
36
Tumors of the endolymphatic sac in von Hippel-Lindau disease. 56 61
15190140 2004
37
Spectrum of abdominal imaging findings in von Hippel-Lindau disease. 56 61
14500227 2003
38
von Hippel-Lindau disease. 61 54 24
12814730 2003
39
Clinical review 155: Pheochromocytoma in Von Hippel-Lindau disease. 56 61
12629069 2003
40
Genetic and functional analysis of the von Hippel-Lindau (VHL) tumour suppressor gene promoter. 61 56
12114475 2002
41
Identification of cyclin D1 and other novel targets for the von Hippel-Lindau tumor suppressor gene by expression array analysis and investigation of cyclin D1 genotype as a modifier in von Hippel-Lindau disease. 61 6
12097293 2002
42
Molecular characterization and ophthalmic investigation of a large family with type 2A Von Hippel-Lindau Disease. 6 61
11709017 2001
43
VHL c.505 T>C mutation confers a high age related penetrance but no increased overall mortality. 61 6
11483638 2001
44
Pheochromocytomas in von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2 display distinct biochemical and clinical phenotypes. 56 61
11344198 2001
45
Genotype-phenotype correlation in von Hippel-Lindau syndrome. 56 61
11257110 2001
46
Cryptic von Hippel-Lindau disease: germline mutations in patients with haemangioblastoma only. 61 56
11106358 2000
47
Von Hippel-Lindau Syndrome 61 6
20301636 2000
48
[Identification of a de novo mutation in a patient without von Hippel-Lindau syndrome: clinical and diagnostic implications]. 61 6
10570625 1999
49
An analysis of phenotypic variation in the familial cancer syndrome von Hippel-Lindau disease: evidence for modifier effects. 61 56
9758595 1998
50
Germline mutations detected in the von Hippel-Lindau disease tumor suppressor gene by Southern blot and direct genomic DNA sequencing. 6 61
9452032 1998

Variations for Von Hippel-Lindau Syndrome

ClinVar genetic disease variations for Von Hippel-Lindau Syndrome:

6 (show top 50) (show all 833) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 VHL NC_000003.12:g.(?_10141635)_(10142187_?)deldeletion Pathogenic 417616 3:10183319-10183871 3:10141635-10142187
2 VHL NC_000003.12:g.(?_10146514)_(10146636_?)deldeletion Pathogenic 417615 3:10188198-10188320 3:10146514-10146636
3 VHL NC_000003.12:g.(?_10141635)_(10153670_?)deldeletion Pathogenic 417800 3:10141635-10153670
4 VHL NM_000551.3(VHL):c.226_227del (p.Phe76fs)deletion Pathogenic 411961 rs1060503552 3:10183757-10183758 3:10142073-10142074
5 VHL NM_198156.3(VHL):c.341-3192dupduplication Pathogenic 411979 rs1553619976 3:10188277-10188278 3:10146593-10146594
6 VHL NM_000551.3(VHL):c.208G>T (p.Glu70Ter)SNV Pathogenic 428806 rs5030802 3:10183739-10183739 3:10142055-10142055
7 VHL NM_000551.3(VHL):c.353T>C (p.Leu118Pro)SNV Pathogenic 428807 rs5030830 3:10188210-10188210 3:10146526-10146526
8 VHL NM_000551.3(VHL):c.452T>C (p.Ile151Thr)SNV Pathogenic 428803 rs869025655 3:10188309-10188309 3:10146625-10146625
9 VHL NM_000551.3(VHL):c.278del (p.Gly93fs)deletion Pathogenic 428811 rs1131690964 3:10183808-10183808 3:10142124-10142124
10 VHL NM_000551.3(VHL):c.583C>T (p.Gln195Ter)SNV Pathogenic 428794 rs5030825 3:10191590-10191590 3:10149906-10149906
11 VHL NC_000003.12:g.(?_10064723)_(10149971_?)deldeletion Pathogenic 456559 3:10064723-10149971
12 VHL NM_000551.3(VHL):c.262T>A (p.Trp88Arg)SNV Pathogenic 456577 rs1553619431 3:10183793-10183793 3:10142109-10142109
13 VHL NM_198156.3(VHL):c.341-3237deldeletion Pathogenic 456565 rs1553619952 3:10188234-10188234 3:10146550-10146550
14 VHL NC_000003.12:g.(?_10146508)_(10149971_?)deldeletion Pathogenic 456563 3:10146508-10149971
15 VHL NM_000551.3(VHL):c.206dup (p.Glu70fs)duplication Pathogenic 478820 rs1553619415 3:10183736-10183737 3:10142052-10142053
16 VHL NM_000551.3(VHL):c.278G>A (p.Gly93Asp)SNV Pathogenic 496054 rs1553619440 3:10183809-10183809 3:10142125-10142125
17 VHL NM_000551.3(VHL):c.313A>C (p.Thr105Pro)SNV Pathogenic 496055 rs1553619461 3:10183844-10183844 3:10142160-10142160
18 VHL NM_000551.3(VHL):c.395A>C (p.Gln132Pro)SNV Pathogenic 496063 rs1347416980 3:10188252-10188252 3:10146568-10146568
19 VHL NM_001354723.2(VHL):c.*28_*30delinsCindel Pathogenic 496066 rs1553620305 3:10191481-10191483 3:10149797-10149799
20 VHL NM_000551.3(VHL):c.355T>C (p.Phe119Leu)SNV Pathogenic 496059 rs1553619948 3:10188212-10188212 3:10146528-10146528
21 VHL NM_000551.3(VHL):c.238A>C (p.Ser80Arg)SNV Pathogenic 496052 rs786202787 3:10183769-10183769 3:10142085-10142085
22 VHL NM_000551.3(VHL):c.262T>C (p.Trp88Arg)SNV Pathogenic 496053 rs1553619431 3:10183793-10183793 3:10142109-10142109
23 VHL NM_000551.3(VHL):c.484T>C (p.Cys162Arg)SNV Pathogenic 496067 rs1553620313 3:10191491-10191491 3:10149807-10149807
24 VHL NM_000551.3(VHL):c.500G>T (p.Arg167Leu)SNV Pathogenic 526685 rs5030821 3:10191507-10191507 3:10149823-10149823
25 VHL NM_000551.3(VHL):c.245G>T (p.Arg82Leu)SNV Pathogenic 526675 rs794726890 3:10183776-10183776 3:10142092-10142092
26 VHL NM_000551.3(VHL):c.463+1G>ASNV Pathogenic 526679 rs869025657 3:10188321-10188321 3:10146637-10146637
27 VHL NM_000551.3(VHL):c.193T>C (p.Ser65Pro)SNV Pathogenic 547829 rs869025616 3:10183724-10183724 3:10142040-10142040
28 VHL NM_001354723.2(VHL):c.*139_*140deldeletion Pathogenic 547831 rs1553620362 3:10191591-10191592 3:10149907-10149908
29 VHL NM_000551.3(VHL):c.264G>C (p.Trp88Cys)SNV Pathogenic 580847 rs869025622 3:10183795-10183795 3:10142111-10142111
30 VHL NM_000551.3(VHL):c.340G>A (p.Gly114Ser)SNV Pathogenic 583094 rs869025636 3:10183871-10183871 3:10142187-10142187
31 VHL NM_000551.3(VHL):c.472C>G (p.Leu158Val)SNV Pathogenic 567944 rs1559429613 3:10191479-10191479 3:10149795-10149795
32 VHL NM_000551.3(VHL):c.463+2T>CSNV Pathogenic 569414 rs5030814 3:10188322-10188322 3:10146638-10146638
33 VHL NM_000551.3(VHL):c.280G>T (p.Glu94Ter)SNV Pathogenic 584477 rs5030829 3:10183811-10183811 3:10142127-10142127
34 VHL NM_000551.3(VHL):c.232A>C (p.Asn78His)SNV Pathogenic 625225 rs869025621 3:10183763-10183763 3:10142079-10142079
35 VHL NM_000551.3(VHL):c.232A>G (p.Asn78Asp)SNV Pathogenic 625226 rs869025621 3:10183763-10183763 3:10142079-10142079
36 VHL NM_000551.4(VHL):c.233del (p.Asn78fs)deletion Pathogenic 625227 rs1559425925 3:10183763-10183763 3:10142079-10142079
37 VHL NM_000551.3(VHL):c.239_261del (p.Ser80fs)deletion Pathogenic 625228 rs1559425951 3:10183769-10183791 3:10142085-10142107
38 VHL NM_000551.3(VHL):c.239G>T (p.Ser80Ile)SNV Pathogenic 625229 rs5030805 3:10183770-10183770 3:10142086-10142086
39 VHL NM_000551.4(VHL):c.258dup (p.Val87fs)duplication Pathogenic 625230 rs864622545 3:10183786-10183787 3:10142102-10142103
40 VHL NM_000551.3(VHL):c.331A>T (p.Ser111Cys)SNV Pathogenic 565557 rs1559426203 3:10183862-10183862 3:10142178-10142178
41 VHL NM_000551.4(VHL):c.292_295del (p.Tyr98fs)deletion Pathogenic 625234 rs1559426095 3:10183821-10183824 3:10142137-10142140
42 VHL NM_000551.3(VHL):c.294C>G (p.Tyr98Ter)SNV Pathogenic 625235 rs1559426115 3:10183825-10183825 3:10142141-10142141
43 VHL NM_000551.3(VHL):c.304_305dup (p.Pro103fs)duplication Pathogenic 625236 rs1559426145 3:10183834-10183835 3:10142150-10142151
44 VHL NM_000551.4(VHL):c.346dup (p.Leu116fs)duplication Pathogenic 625238 rs1559428051 3:10188201-10188202 3:10146517-10146518
45 VHL NM_000551.3(VHL):c.350G>A (p.Trp117Ter)SNV Pathogenic 625239 rs1559428056 3:10188207-10188207 3:10146523-10146523
46 VHL NM_000551.3(VHL):c.357C>G (p.Phe119Leu)SNV Pathogenic 625240 rs1559428077 3:10188214-10188214 3:10146530-10146530
47 VHL NM_000551.4(VHL):c.381del (p.Leu128fs)deletion Pathogenic 625241 rs1559428107 3:10188236-10188236 3:10146552-10146552
48 VHL NM_198156.3(VHL):c.341-3221_341-3220dupduplication Pathogenic 625243 rs1559428128 3:10188249-10188250 3:10146565-10146566
49 VHL NM_000551.4(VHL):c.397del (p.Thr133fs)deletion Pathogenic 625244 rs1559428134 3:10188252-10188252 3:10146568-10146568
50 VHL NM_000551.4(VHL):c.413del (p.Pro138fs)deletion Pathogenic 625245 rs1559428164 3:10188269-10188269 3:10146585-10146585

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

73 (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 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
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
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 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 COSM88301868 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.389T>G p.V130G 3:10146562-10146562 20
2 COSM88294143 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.260T>C p.V87A 3:10142107-10142107 20
3 COSM88293303 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.475A>G p.K159E 3:10149798-10149798 20
4 COSM88288959 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.482G>A p.R161Q 3:10149805-10149805 20
5 COSM88296074 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.250G>C p.V84L 3:10142097-10142097 20
6 COSM88292246 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.227T>A p.F76Y 3:10142074-10142074 20
7 COSM88292236 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.491A>G p.Q164R 3:10149814-10149814 20
8 COSM92347003 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.2753T>C p.M918T 10:43121968-43121968 20
9 COSM92347226 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.1900T>C p.C634R 10:43114500-43114500 20
10 COSM93656552 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1885G>A p.G629R 17:31225134-31225134 20
11 COSM93692982 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.5665G>T p.E1889* 17:31330351-31330351 20
12 COSM93650970 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1466A>G p.Y489C 17:31214524-31214524 20
13 COSM93662933 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7582C>T p.Q2528* 17:31352381-31352381 20
14 COSM93654948 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7646C>G p.S2549* 17:31356490-31356490 20
15 COSM93650764 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7300C>T p.Q2434* 17:31349230-31349230 20
16 COSM93652933 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.205-1G>C p.? 17:31159009-31159009 20
17 COSM93668028 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1722-1G>A p.? 17:31223443-31223443 20
18 COSM93647950 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1721+3A>T p.? 17:31221932-31221932 20
19 COSM93688082 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.6855C>A p.Y2285* 17:31338739-31338739 20
20 COSM93680586 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.226G>T p.E76* 17:31159031-31159031 20
21 COSM93687360 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.3158C>A p.S1053* 17:31230886-31230886 20
22 COSM93653832 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.2409+1G>A p.? 17:31227607-31227607 20
23 COSM88844097 MET adrenal gland,adrenal gland,pheochromocytoma,benign c.3029C>T p.T1010I 7:116771936-116771936 20
24 COSM88849124 MET adrenal gland,adrenal gland,pheochromocytoma,benign c.607T>A p.S203T 7:116699691-116699691 20
25 COSM88850455 MET adrenal gland,adrenal gland,pheochromocytoma,benign c.352A>T p.M118L 7:116699436-116699436 20
26 COSM112988851 HRAS adrenal gland,adrenal gland,pheochromocytoma,benign c.182A>G p.Q61R 11:533874-533874 20
27 COSM112988925 HRAS adrenal gland,adrenal gland,pheochromocytoma,benign c.181C>A p.Q61K 11:533875-533875 20
28 COSM112988832 HRAS adrenal gland,adrenal gland,pheochromocytoma,benign c.37G>C p.G13R 11:534286-534286 20
29 COSM95516578 H3-3A adrenal gland,adrenal gland,pheochromocytoma,benign c.103G>T p.G35W 1:226064454-226064454 20
30 COSM107493928 FGFR1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1731C>A p.N577K 8:38417331-38417331 20
31 COSM86761750 EPAS1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1104G>A p.M368I 2:46376608-46376608 20
32 COSM86761419 EPAS1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1589C>A p.A530E 2:46380261-46380261 20
33 COSM86757527 EPAS1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1595A>G p.Y532C 2:46380267-46380267 20
34 COSM86759134 EPAS1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1592C>T p.P531L 2:46380264-46380264 20
35 COSM93530486 adrenal gland,adrenal gland,pheochromocytoma,benign c.226G>T p.E76* 17:31159031-31159031 20
36 COSM91331163 adrenal gland,adrenal gland,pheochromocytoma,benign c.182A>G p.Q61R 11:533874-533874 20
37 COSM120509060 adrenal gland,adrenal gland,pheochromocytoma,benign c.1466A>G p.Y489C 17:31214524-31214524 20
38 COSM92696795 adrenal gland,adrenal gland,pheochromocytoma,benign c.*688C>A p.? 8:38417331-38417331 20
39 COSM93535461 adrenal gland,adrenal gland,pheochromocytoma,benign c.3158C>A p.S1053* 17:31230886-31230886 20
40 COSM101951610 adrenal gland,adrenal gland,pheochromocytoma,benign c.182A>G p.Q61R 11:533874-533874 20
41 COSM109968573 adrenal gland,adrenal gland,pheochromocytoma,benign c.226G>T p.E76* 17:31159031-31159031 20
42 COSM109960979 adrenal gland,adrenal gland,pheochromocytoma,benign c.1466A>G p.Y489C 17:31214524-31214524 20
43 COSM93512112 adrenal gland,adrenal gland,pheochromocytoma,benign c.1885G>A p.G629R 17:31225134-31225134 20
44 COSM90654925 adrenal gland,adrenal gland,pheochromocytoma,benign c.260T>C p.V87A 3:10142107-10142107 20
45 COSM105721394 adrenal gland,adrenal gland,pheochromocytoma,benign c.182A>G p.Q61R 11:533874-533874 20
46 COSM93508888 adrenal gland,adrenal gland,pheochromocytoma,benign c.205-1G>C p.? 17:31159009-31159009 20
47 COSM90652830 adrenal gland,adrenal gland,pheochromocytoma,benign c.373G>T p.V125F 3:10149819-10149819 20
48 COSM111018308 adrenal gland,adrenal gland,pheochromocytoma,benign c.352A>T p.M118L 7:116699436-116699436 20
49 COSM102553914 adrenal gland,adrenal gland,pheochromocytoma,benign c.2975C>T p.T992I 7:116771936-116771936 20
50 COSM93509879 adrenal gland,adrenal gland,pheochromocytoma,benign c.2409+1G>A p.? 17:31227607-31227607 20

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
Show member pathways
12.94 VHL VEGFA TSC2 HIF1A ELOB CUL2
2 12.59 VHL VEGFA RET HIF1A ELOB CUL2
3
Show member pathways
12.25 VHL VEGFA NF1 HIF1A ELOB CUL2
4 11.89 VEGFA TSC2 NF1 CCND1
5
Show member pathways
11.73 SDHD SDHC SDHB
6 11.69 VHL VEGFA HIF1A ELOB CUL2
7
Show member pathways
11.66 VHL VEGFA HIF1A
8
Show member pathways
11.5 VEGFA HIF1A CCND1
9 11.34 VEGFA HIF1A CCND1
10 11.29 VEGFA RET NF1
11 11.09 VHL VEGFA HIF1A ELOB CUL2
12 11.08 VHL VEGFA ELOB
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 respiratory chain complex II GO:0045273 9.16 SDHC SDHB
5 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 9.13 SDHD SDHC SDHB
6 VCB complex GO:0030891 8.8 VHL ELOB CUL2

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cerebral cortex development GO:0021987 9.65 NPY NF1 HIF1A
2 positive regulation of endothelial cell proliferation GO:0001938 9.63 VEGFA NF1 HIF1A
3 lactation GO:0007595 9.5 VEGFA HIF1A CCND1
4 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.49 RET NF1
5 positive regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061419 9.43 VEGFA HIF1A
6 tricarboxylic acid cycle GO:0006099 9.43 SDHD SDHC SDHB
7 post-translational protein modification GO:0043687 9.43 VHL MEN1 HIF1A ELOB CUL2 CHGB
8 hemoglobin biosynthetic process GO:0042541 9.4 INHA HIF1A
9 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.37 SDHD SDHC
10 camera-type eye morphogenesis GO:0048593 9.33 VEGFA NF1 HIF1A
11 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 9.33 SDHD SDHC SDHB
2 ubiquinone binding GO:0048039 8.96 SDHD SDHB
3 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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