VHL
MCID: VNH007
MIFTS: 73

Von Hippel-Lindau Syndrome (VHL)

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
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 erythrocytosis, familial, 2 and hemangioblastoma, and has symptoms including vertigo and tinnitus. An important gene associated with Von Hippel-Lindau Syndrome is VHL (Von Hippel-Lindau Tumor Suppressor), and among its related pathways/superpathways are Ubiquitin mediated proteolysis and Pathways in cancer. The drugs Phenoxybenzamine and Doxazosin have been mentioned in the context of this disorder. Affiliated tissues include kidney, pancreas and adrenal gland, and related phenotypes are neurological speech impairment and nystagmus

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

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), is a rare genetic disorder with multisystem involvement. It is... 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 530)
# Related Disease Score Top Affiliating Genes
1 erythrocytosis, familial, 2 34.1 VHL LOC107303340 HIF1A ELOB
2 hemangioblastoma 33.6 VHL VEGFA INHA HIF1A
3 hereditary paraganglioma-pheochromocytoma syndromes 33.2 VHL SDHD SDHC SDHB RET
4 clear cell renal cell carcinoma 33.1 VHL VEGFA HIF1A ELOB CCND1
5 hypoxia 32.8 VHL VEGFA HIF1A CUL2
6 cerebellar angioblastoma 32.8 VHL SDHD SDHC SDHB MEN1
7 adrenal carcinoma 32.7 SDHD SDHB MEN1 CHGA CCND1
8 microcystic adenoma 32.6 VHL INHA CHGA
9 acute leukemia of ambiguous lineage 32.5 VHL LOC107303340
10 fumarate hydratase deficiency 32.2 VHL HIF1A
11 catecholamine-producing tumor 32.2 VHL SDHD SDHB RET
12 acute mountain sickness 32.1 VHL VEGFA HIF1A
13 multiple endocrine neoplasia, type i 31.8 VHL SDHD SDHC SDHB RET NF1
14 esophagus leiomyoma 31.7 VHL SDHD SDHC SDHB RET NF1
15 chromophobe renal cell carcinoma 31.7 VHL CHGA CCND1
16 cystadenoma 31.6 VHL INHA CHGA CCND1
17 persistent generalized lymphadenopathy 31.5 VHL SDHD SDHC SDHB RET NF1
18 multiple endocrine neoplasia 31.3 VHL SDHC SDHB RET MEN1
19 islet cell tumor 31.3 RET MEN1 CHGA
20 central nervous system hemangioma 31.2 RET NF1
21 hyperparathyroidism 31.0 RET MEN1 CHGA
22 adenoma 30.9 VHL RET MEN1 CHGA CCND1
23 non-functioning pancreatic endocrine tumor 30.9 MEN1 CHGA
24 tongue cancer 30.8 VEGFA HIF1A CCND1
25 carcinoid tumors, intestinal 30.8 MEN1 CHGB CHGA
26 malignant pheochromocytoma 30.8 SLC6A2 SDHB PNMT CHGA
27 kidney cancer 30.7 VHL VEGFA SDHB HIF1A ELOB CUL2
28 thyroid gland medullary carcinoma 30.7 RET MEN1 CHGA
29 pancreatic gastrinoma 30.7 MEN1 CHGA
30 retinal hemangioblastoma 30.7 VHL VEGFA HIF1A ELOB CUL2
31 paragangliomas 1 30.7 SDHD SDHC SDHB RET CHGA
32 adrenal cortical adenoma 30.7 MEN1 INHA CHGA
33 sporadic pheochromocytoma 30.7 VHL SDHD SDHC SDHB RET NF1
34 extra-adrenal pheochromocytoma 30.6 SDHD SDHC SDHB RET PNMT NF1
35 duodenal somatostatinoma 30.6 NF1 MEN1
36 constipation 30.6 SLC6A2 RET NPY CHGA
37 tuberous sclerosis 30.6 VHL VEGFA NF1 CHGA
38 hemangioma 30.6 VHL VEGFA RET MEN1 HIF1A CHGA
39 primary hyperparathyroidism 30.6 RET MEN1 CHGA CCND1
40 renal cell carcinoma, nonpapillary 30.6 VHL VEGFA SDHC SDHB RET LOC107303340
41 ganglioneuroma 30.6 RET PNMT CHGA
42 neuroendocrine tumor 30.6 VHL VEGFA SDHD SDHB RET MEN1
43 colorectal adenocarcinoma 30.6 VEGFA HIF1A CHGA CCND1
44 thyroid carcinoma, familial medullary 30.5 VHL RET MEN1 CHGB CHGA
45 neural crest tumor 30.5 SDHD SDHC SDHB
46 carney complex variant 30.5 SDHD RET NF1 MEN1
47 cowden syndrome 1 30.5 SDHB RET NF1
48 cardiovascular organ benign neoplasm 30.4 VHL VEGFA SDHD SDHB RET NF1
49 carcinoid syndrome 30.4 VEGFA SDHD NPY MEN1 CHGA
50 renal cell carcinoma, papillary, 1 30.4 VHL VEGFA SDHB RET LOC107303340 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 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neurological speech impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002167
2 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
3 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
4 arteriovenous malformation 58 31 hallmark (90%) Very frequent (99-80%) HP:0100026
5 aplasia/hypoplasia of the cerebellum 58 31 hallmark (90%) Very frequent (99-80%) HP:0007360
6 pancreatic cysts 58 31 hallmark (90%) Very frequent (99-80%) HP:0001737
7 renal cell carcinoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0005584
8 retinal capillary hemangioma 58 31 hallmark (90%) Very frequent (99-80%) HP:0009711
9 abnormality of the cerebral vasculature 58 31 hallmark (90%) Very frequent (99-80%) HP:0100659
10 visceral angiomatosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100761
11 abnormal retinal vascular morphology 31 hallmark (90%) HP:0008046
12 nausea and vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002017
13 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
14 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
15 hydrocephalus 58 31 frequent (33%) Frequent (79-30%) HP:0000238
16 telangiectasia of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0100585
17 sensory neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0000763
18 hemiplegia/hemiparesis 58 31 frequent (33%) Frequent (79-30%) HP:0004374
19 migraine 58 31 frequent (33%) Frequent (79-30%) HP:0002076
20 capillary hemangioma 58 31 frequent (33%) Frequent (79-30%) HP:0005306
21 multicystic kidney dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000003
22 polycystic kidney dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000113
23 papillary cystadenoma of the epididymis 58 31 frequent (33%) Frequent (79-30%) HP:0009715
24 hyperhidrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000975
25 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
26 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
27 increased intracranial pressure 58 31 occasional (7.5%) Occasional (29-5%) HP:0002516
28 arrhythmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011675
29 glaucoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000501
30 retinal detachment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000541
31 visual loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0000572
32 pheochromocytoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002666
33 multiple renal cysts 58 31 occasional (7.5%) Occasional (29-5%) HP:0005562
34 abnormality of the lymphatic system 58 31 occasional (7.5%) Occasional (29-5%) HP:0100763
35 neoplasm of the middle ear 58 31 occasional (7.5%) Occasional (29-5%) HP:0100799
36 hearing impairment 58 Occasional (29-5%)
37 visual impairment 58 Very frequent (99-80%)
38 neoplasm 58 Occasional (29-5%)
39 abnormality of the retinal vasculature 58 Very frequent (99-80%)
40 vertigo 31 HP:0002321
41 abnormality of the kidney 58 Frequent (79-30%)
42 abnormality of the pancreas 58 Occasional (29-5%)
43 neuroendocrine neoplasm 58 Occasional (29-5%)
44 vascular neoplasm 58 Very frequent (99-80%)
45 tinnitus 31 HP:0000360
46 neoplasm of the pancreas 31 HP:0002894
47 abnormality of the liver 31 HP:0001392
48 polycythemia 31 HP:0001901
49 paraganglioma 31 HP:0002668
50 epididymal cyst 31 HP:0030424

Symptoms via clinical synopsis from OMIM:

56
Endocrine Features:
hypertension
adrenal hemangiomas

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

Neurologic Central Nervous System:
cerebellar hemangioblastoma

Respiratory Lung:
pulmonary hemangiomas

Abdomen Pancreas:
multiple pancreatic cysts
pancreatic hemangioblastoma

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

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

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

Head And Neck Eyes:
retinal angiomata

Abdomen Liver:
liver hemangiomas

Neurologic Peripheral Nervous System:
spinal cord hemangioblastoma

Clinical features from OMIM:

193300

UMLS symptoms related to Von Hippel-Lindau Syndrome:


vertigo, tinnitus

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

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

MGI Mouse Phenotypes related to Von Hippel-Lindau Syndrome:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.31 CCND1 CHGA CHGB HIF1A INHA MEN1
2 cardiovascular system MP:0005385 10.27 CCND1 CHGA HIF1A INHA MEN1 NF1
3 endocrine/exocrine gland MP:0005379 10.23 CCND1 CHGA CHGB HIF1A INHA MEN1
4 growth/size/body region MP:0005378 10.21 CCND1 CHGA HIF1A INHA MEN1 NF1
5 digestive/alimentary MP:0005381 10.13 CCND1 HIF1A INHA MEN1 NF1 NPY
6 mortality/aging MP:0010768 10.13 CCND1 CHGA HIF1A INHA MEN1 NF1
7 nervous system MP:0003631 9.97 CCND1 CHGA CHGB HIF1A MEN1 NF1
8 neoplasm MP:0002006 9.96 CCND1 HIF1A INHA MEN1 NF1 RET
9 liver/biliary system MP:0005370 9.91 HIF1A INHA MEN1 NF1 NPY VEGFA
10 normal MP:0002873 9.73 CCND1 HIF1A INHA NF1 NPY PNMT
11 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 top 50) (show all 65)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Phenoxybenzamine Approved Phase 4 59-96-1 4768
2
Doxazosin Approved Phase 4 74191-85-8 3157
3 Antihypertensive Agents Phase 4
4 Neurotransmitter Agents Phase 4
5 Adrenergic Antagonists Phase 4
6 Adrenergic alpha-Antagonists Phase 4
7 Vasodilator Agents Phase 4
8 Adrenergic Agents Phase 4
9
Sirolimus Approved, Investigational Phase 3 53123-88-9 5284616 6436030 46835353
10
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
11
Everolimus Approved Phase 3 159351-69-6 6442177 70789204
12
Tyrosine Approved, Investigational, Nutraceutical Phase 3 60-18-4 6057
13 Antibiotics, Antitubercular Phase 3
14 Anti-Bacterial Agents Phase 3
15 Antifungal Agents Phase 3
16 Immunosuppressive Agents Phase 3
17
Bevacizumab Approved, Investigational Phase 1, Phase 2 216974-75-3
18
Ranibizumab Approved Phase 1, Phase 2 347396-82-1 459903
19
Somatostatin Approved, Investigational Phase 2 51110-01-1, 38916-34-6 53481605
20
Bortezomib Approved, Investigational Phase 2 179324-69-7 387447 93860
21
Iron Approved, Experimental Phase 2 7439-89-6, 15438-31-0 23925 27284
22
Deferoxamine Approved, Investigational Phase 2 70-51-9 2973
23
Sunitinib Approved, Investigational Phase 1, Phase 2 341031-54-7, 557795-19-4 5329102
24
Pancrelipase Approved, Investigational Phase 2 53608-75-6
25
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
26
Gefitinib Approved, Investigational Phase 2 184475-35-2 123631
27
Peginterferon alfa-2b Approved Phase 2 215647-85-1, 99210-65-8
28
Vatalanib Investigational Phase 2 212141-54-3 151194
29 Antineoplastic Agents, Immunological Phase 1, Phase 2
30 Fluorodeoxyglucose F18 Phase 2
31 Gastrointestinal Agents Phase 2
32
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
33 Pharmaceutical Solutions Phase 2
34 Siderophores Phase 2
35 Chelating Agents Phase 2
36 Iron Chelating Agents Phase 2
37 Protein Kinase Inhibitors Phase 1, Phase 2
38 Angiogenesis Inhibitors Phase 1, Phase 2
39 pancreatin Phase 2
40 Endothelial Growth Factors Phase 2
41 Mitogens Phase 2
42 Immunologic Factors Phase 2
43 Antiviral Agents Phase 2
44 Interferon-alpha Phase 2
45 Interferon alpha-2 Phase 2
46 interferons Phase 2
47
Histidine Investigational, Nutraceutical Phase 1, Phase 2 71-00-1 6274
48
Vorinostat Approved, Investigational Phase 1 149647-78-9 5311
49
Digoxin Approved Phase 1 20830-75-5 30322 2724385
50 Antibodies, Monoclonal Phase 1

Interventional clinical trials:

(show top 50) (show all 58)
# 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 Active, not recruiting 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 Bortezomib (Velcade ) Administered as a Single Agent in Metastatic Non-Clear Cell Renal Cell Carcinoma (RCC) Patients Completed NCT00276614 Phase 2 bortezomib
14 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
15 pazopanib_NCRCC,Ph2 STUDY Completed NCT01538238 Phase 2 pazopanib
16 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
17 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
18 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
19 A Phase II Trial of Pazopanib in Von Hippel-Lindau Syndrome Active, not recruiting NCT01436227 Phase 2 Pazopanib
20 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
21 Effect of Deferoxamine on Wound Healing Rate in Patients With Diabetes Foot Ulcers Not yet recruiting NCT03137966 Phase 2 Deferoxamine;Placebo
22 Pilot Study of Sunitinib Malate for Advanced Ocular Disease of Von Hippel-Lindau Syndrome Terminated NCT00673816 Phase 1, Phase 2 Sunitinib Malate
23 A Phase 2 Study of SU011248 (Sunitinib Malate) in Von Hippel-Lindau Syndrome Terminated NCT00330564 Phase 2 SU011248
24 A Pilot Trial of TKI 258 (Dovitinib) in Von Hippel-Lindau Syndrome Terminated NCT01266070 Phase 2 Dovitinib
25 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
26 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
27 A Phase 2 Study of Pazopanib (GW786034) in Patients With Advanced and Progressive Malignant Pheochromocytoma or Paraganglioma Terminated NCT01340794 Phase 2 Pazopanib Hydrochloride
28 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
29 A Phase II Study of ZD6474 (Vandetanib) in Subjects With Advanced Clear Cell Renal Carcinoma Terminated NCT01372813 Phase 2 vandetanib
30 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
31 Pilot Study of Intravitreal Injection of Ranibizumab (rhuFAB V2) for Advanced Ocular Disease of Von Hippel-Lindau (VHL) Disease Completed NCT00089765 Phase 1 Ranibizumab
32 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
33 Pilot Study of the Effect of Vorinostat on Nervous System Hemangioblastomas In Von Hippel-Lindau Disease Completed NCT02108002 Phase 1 Vorinostat
34 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
35 Phase 1 Study of Digoxin for Congenital Erythrocytosis Due to Up-Regulated Hypoxia Sensing Not yet recruiting NCT03433833 Phase 1 Digoxin
36 Von Hippel-Lindau (VHL) Disease Genetic Epidemiology Study Unknown status NCT00001803
37 Assessment of Residual VHL Function in Tumors - Can it Predict the Patients' Individual Course of Disease? Unknown status NCT02207686
38 Psychosocial Consequences of the Screening of Von Hippel Lindau Diseases for Patients Operated for a hémangioblastoma of Nervous Centrasl System Unknown status NCT02120040
39 Genetic Mutation Analysis In A VHL Population Completed NCT00075348
40 Visualizing VEGF Producing Lesions in Von Hippel-Lindau Disease Completed NCT00970970
41 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
42 Evaluation of the Natural History and Management of Pancreatic Lesions Associated With Von Hippel-Lindau Completed NCT00062166
43 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
44 89Zr-bevacizumab PET Imaging in Patients With Renal Cell Carcinoma Treated With Everolimus; a Pilot Study Completed NCT01028638
45 MyVHL: Patient Natural History Study Recruiting NCT03749980
46 An International Collaborative Study: Screening for Endolymphatic Sac Tumours (ELSTs) in Von Hippel-Lindau (vHL) Patients Recruiting NCT02420067
47 Evaluation of the Natural History and Management of Von Hippel-Lindau (VHL) Associated Pancreatic Neuroendocrine Tumors Recruiting NCT04074135
48 NEI Intramural Biorepository for Retinal Diseases Recruiting NCT01496625
49 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
50 Clinical Manifestations and Molecular Bases of Heritable Urologic Malignant Disorders Recruiting NCT00001238

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

Publications for Von Hippel-Lindau Syndrome

Articles related to Von Hippel-Lindau Syndrome:

(show top 50) (show all 2439)
# Title Authors PMID Year
1
Functioning carotid paraganglioma in the von Hippel-Lindau syndrome. 61 24 56 6
9880225 1998
2
Genotype-phenotype correlations in von Hippel-Lindau disease. 61 56 6
17024664 2007
3
Mosaicism in von Hippel-Lindau disease: lessons from kindreds with germline mutations identified in offspring with mosaic parents. 54 61 24 56
10631138 2000
4
Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. 61 56 6
9829911 1998
5
Genotype-phenotype correlation in von Hippel-Lindau disease: identification of a mutation associated with VHL type 2A. 61 56 6
8863170 1996
6
Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. 61 56 6
8956040 1996
7
Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. 61 56 6
7728151 1995
8
Molecular genetic investigations of the mechanism of tumourigenesis in von Hippel-Lindau disease: analysis of allele loss in VHL tumours. 61 56 6
8270255 1994
9
Three-decade investigation of familial pheochromocytoma. An allele of von Hippel-Lindau disease? 61 56 6
8239848 1993
10
Genetic analysis of von Hippel-Lindau disease. 61 24 56
20151405 2010
11
Salvage external beam radiotherapy of retinal capillary hemangiomas secondary to von Hippel-Lindau disease: visual and anatomic outcomes. 61 24 56
14711727 2004
12
Solid renal tumor severity in von Hippel Lindau disease is related to germline deletion length and location. 61 24 56
14695531 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. 61 24 6
12202531 2002
15
Two distinct phenotypes caused by two different missense mutations in the same codon of the VHL gene. 56 6
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 24 56
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. 24 6
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. 24 6
12114495 2002
23
Germ-line mutations in nonsyndromic pheochromocytoma. 54 61 6
12000816 2002
24
Molecular diagnosis of von Hippel-Lindau disease in a kindred with a predominance of familial phaeochromocytoma. 54 61 6
9156047 1997
25
Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II. 54 61 6
7563486 1995
26
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
27
Germline mutations in the von Hippel-Lindau gene in Italian patients. 61 56
19464396 2009
28
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
29
Mechanisms of morbid hearing loss associated with tumors of the endolymphatic sac in von Hippel-Lindau disease. 61 56
17609489 2007
30
Genotype-phenotype correlation in von Hippel-Lindau disease with retinal angiomatosis. 61 56
17296901 2007
31
Molecular pathology and CXCR4 expression in surgically excised retinal hemangioblastomas associated with von Hippel-Lindau disease. 61 56
17070589 2007
32
Von Hippel-Lindau disease. 54 61 24
18039096 2007
33
Renal cell carcinoma risk in type 2 von Hippel-Lindau disease correlates with defects in pVHL stability and HIF-1alpha interactions. 54 61 24
16261165 2006
34
Ocular manifestations of von Hippel-Lindau disease: clinical and genetic investigations. 61 56
17057815 2005
35
Tumors of the endolymphatic sac in von Hippel-Lindau disease. 61 56
15190140 2004
36
Spectrum of abdominal imaging findings in von Hippel-Lindau disease. 61 56
14500227 2003
37
von Hippel-Lindau disease. 54 61 24
12814730 2003
38
Clinical review 155: Pheochromocytoma in Von Hippel-Lindau disease. 61 56
12629069 2003
39
Genetic and functional analysis of the von Hippel-Lindau (VHL) tumour suppressor gene promoter. 61 56
12114475 2002
40
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
41
Molecular characterization and ophthalmic investigation of a large family with type 2A Von Hippel-Lindau Disease. 61 6
11709017 2001
42
VHL c.505 T>C mutation confers a high age related penetrance but no increased overall mortality. 61 6
11483638 2001
43
Pheochromocytomas in von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2 display distinct biochemical and clinical phenotypes. 61 56
11344198 2001
44
Genotype-phenotype correlation in von Hippel-Lindau syndrome. 61 56
11257110 2001
45
Cryptic von Hippel-Lindau disease: germline mutations in patients with haemangioblastoma only. 61 56
11106358 2000
46
Von Hippel-Lindau Syndrome 61 6
20301636 2000
47
[Identification of a de novo mutation in a patient without von Hippel-Lindau syndrome: clinical and diagnostic implications]. 61 6
10570625 1999
48
An analysis of phenotypic variation in the familial cancer syndrome von Hippel-Lindau disease: evidence for modifier effects. 61 56
9758595 1998
49
Germline mutations detected in the von Hippel-Lindau disease tumor suppressor gene by Southern blot and direct genomic DNA sequencing. 61 6
9452032 1998
50
Functioning thoracic paraganglioma: association with Von Hippel-Lindau syndrome. 61 56
9329368 1997

Variations for Von Hippel-Lindau Syndrome

ClinVar genetic disease variations for Von Hippel-Lindau Syndrome:

6 (show top 50) (show all 619) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 VHL NM_000551.3(VHL):c.(?_464)_642+?deldeletion Pathogenic 177805 3:10191471-10191649 3:10149787-10149965
2 VHL NM_000551.3(VHL):c.351G>T (p.Trp117Cys)SNV Pathogenic 167827 rs727504215 3:10188208-10188208 3:10146524-10146524
3 VHL NM_000551.3(VHL):c.257C>T (p.Pro86Leu)SNV Pathogenic 182977 rs730882034 3:10183788-10183788 3:10142104-10142104
4 VHL NM_000551.3(VHL):c.263G>A (p.Trp88Ter)SNV Pathogenic 182978 rs119103277 3:10183794-10183794 3:10142110-10142110
5 VHL NM_000551.3(VHL):c.473T>C (p.Leu158Pro)SNV Pathogenic 182980 rs121913346 3:10191480-10191480 3:10149796-10149796
6 VHL NM_001354723.2(VHL):c.*31deldeletion Pathogenic 182959 rs730882020 3:10191482-10191482 3:10149798-10149798
7 VHL NM_000551.3(VHL):c.482G>A (p.Arg161Gln)SNV Pathogenic 182983 rs730882035 3:10191489-10191489 3:10149805-10149805
8 VHL NM_000551.3(VHL):c.525C>G (p.Tyr175Ter)SNV Pathogenic 182974 rs5030835 3:10191532-10191532 3:10149848-10149848
9 VHL NM_000551.3(VHL):c.245G>C (p.Arg82Pro)SNV Pathogenic 193118 rs794726890 3:10183776-10183776 3:10142092-10142092
10 VHL NM_198156.3(VHL):c.341-3165deldeletion Pathogenic 195093 rs794727253 3:10188305-10188305 3:10146621-10146621
11 VHL NM_000551.3(VHL):c.586A>T (p.Lys196Ter)SNV Pathogenic 196284 rs281860296 3:10191593-10191593 3:10149909-10149909
12 VHL NM_000551.3(VHL):c.194C>T (p.Ser65Leu)SNV Pathogenic 182975 rs5030826 3:10183725-10183725 3:10142041-10142041
13 VHL NM_000551.3(VHL):c.258del (p.Val87fs)deletion Pathogenic 220487 rs864622545 3:10183787-10183787 3:10142103-10142103
14 VHL NM_000551.3(VHL):c.337C>T (p.Arg113Ter)SNV Pathogenic 220414 rs5030810 3:10183868-10183868 3:10142184-10142184
15 VHL NM_000551.3(VHL):c.163dup (p.Glu55fs)duplication Pathogenic 223159 rs869025615 3:10183692-10183693 3:10142008-10142009
16 VHL NM_000551.3(VHL):c.189_192del (p.Arg64_Ser65insTer)deletion Pathogenic 223205 rs869025647 3:10183720-10183723 3:10142036-10142039
17 VHL NM_000551.3(VHL):c.217C>T (p.Gln73Ter)SNV Pathogenic 223164 rs869025619 3:10183748-10183748 3:10142064-10142064
18 VHL NM_000551.3(VHL):c.221del (p.Val74fs)deletion Pathogenic 223165 rs869025620 3:10183752-10183752 3:10142068-10142068
19 VHL NM_198156.3(VHL):c.224_226TCT[1] (p.Phe76del)short repeat Pathogenic 223166 rs5030648 3:10183755-10183757 3:10142071-10142073
20 VHL NM_000551.3(VHL):c.194C>A (p.Ser65Ter)SNV Pathogenic 223161 rs5030826 3:10183725-10183725 3:10142041-10142041
21 VHL NM_000551.3(VHL):c.203C>A (p.Ser68Ter)SNV Pathogenic 223162 rs869025617 3:10183734-10183734 3:10142050-10142050
22 VHL NM_000551.3(VHL):c.277G>T (p.Gly93Cys)SNV Pathogenic 223175 rs5030808 3:10183808-10183808 3:10142124-10142124
23 VHL NM_000551.3(VHL):c.293A>G (p.Tyr98Cys)SNV Pathogenic 223176 rs864321643 3:10183824-10183824 3:10142140-10142140
24 VHL NM_000551.3(VHL):c.293dup (p.Tyr98Ter)duplication Pathogenic 223177 rs869025624 3:10183823-10183824 3:10142139-10142140
25 VHL NM_000551.3(VHL):c.296dup (p.Thr100fs)duplication Pathogenic 223178 rs869025625 3:10183824-10183825 3:10142140-10142141
26 VHL NM_000551.3(VHL):c.300dup (p.Leu101fs)duplication Pathogenic 223179 rs869025626 3:10183830-10183831 3:10142146-10142147
27 VHL NM_000551.3(VHL):c.309del (p.Gly104fs)deletion Pathogenic 223180 rs869025627 3:10183840-10183840 3:10142156-10142156
28 VHL NM_000551.3(VHL):c.309dup (p.Gly104fs)duplication Pathogenic 223181 rs869025628 3:10183839-10183840 3:10142155-10142156
29 VHL NM_000551.3(VHL):c.257C>G (p.Pro86Arg)SNV Pathogenic 223170 rs730882034 3:10183788-10183788 3:10142104-10142104
30 VHL NM_000551.3(VHL):c.269del (p.Asn90fs)deletion Pathogenic 223173 rs869025623 3:10183799-10183799 3:10142115-10142115
31 VHL NM_000551.3(VHL):c.320G>A (p.Arg107His)SNV Pathogenic 223184 rs193922609 3:10183851-10183851 3:10142167-10142167
32 VHL NM_000551.3(VHL):c.332G>A (p.Ser111Asn)SNV Pathogenic 223186 rs869025631 3:10183863-10183863 3:10142179-10142179
33 VHL NM_000551.3(VHL):c.333C>G (p.Ser111Arg)SNV Pathogenic 223187 rs765978945 3:10183864-10183864 3:10142180-10142180
34 VHL NM_000551.3(VHL):c.335_340+5deldeletion Pathogenic 223188 rs869025632 3:10183866-10183876 3:10142182-10142192
35 VHL NM_000551.3(VHL):c.340G>C (p.Gly114Arg)SNV Pathogenic 223193 rs869025636 3:10183871-10183871 3:10142187-10142187
36 VHL NM_000551.3(VHL):c.340+1G>ASNV Pathogenic 223190 rs730882032 3:10183872-10183872 3:10142188-10142188
37 VHL NM_000551.3(VHL):c.340+2_340+6deldeletion Pathogenic 223191 rs869025634 3:10183871-10183875 3:10142187-10142191
38 VHL NM_000551.3(VHL):c.341-2A>GSNV Pathogenic 223194 rs869025637 3:10188196-10188196 3:10146512-10146512
39 VHL NM_000551.3(VHL):c.341delGdeletion Pathogenic 223195 rs869025638 3:10188197-10188197 3:10146513-10146513
40 VHL NM_198156.3(VHL):c.341-3263deldeletion Pathogenic 223197 rs869025640 3:10188207-10188207 3:10146523-10146523
41 VHL NM_000551.3(VHL):c.352_353insA (p.Leu118fs)insertion Pathogenic 223198 rs869025641 3:10188209-10188210 3:10146525-10146526
42 VHL NM_198156.3(VHL):c.341-3199TC[2]short repeat Pathogenic 223207 rs869025649 3:10188272-10188273 3:10146588-10146589
43 VHL NM_000551.3(VHL):c.430G>T (p.Gly144Ter)SNV Pathogenic 223208 rs869025650 3:10188287-10188287 3:10146603-10146603
44 VHL NM_198156.3(VHL):c.341-3183deldeletion Pathogenic 223209 rs869025651 3:10188287-10188287 3:10146603-10146603
45 VHL NM_198156.3(VHL):c.341-3179_341-3178deldeletion Pathogenic 223210 rs869025652 3:10188292-10188293 3:10146608-10146609
46 VHL NM_198156.3(VHL):c.341-3170deldeletion Pathogenic 223212 rs869025653 3:10188297-10188297 3:10146613-10146613
47 VHL NM_198156.3(VHL):c.341-3170dupduplication Pathogenic 223211 rs869025653 3:10188296-10188297 3:10146612-10146613
48 VHL NM_000551.3(VHL):c.445G>A (p.Ala149Thr)SNV Pathogenic 223213 rs587780077 3:10188302-10188302 3:10146618-10146618
49 VHL NM_000551.3(VHL):c.374A>C (p.His125Pro)SNV Pathogenic 223201 rs869025643 3:10188231-10188231 3:10146547-10146547
50 VHL NM_198156.3(VHL):c.341-3244AC[2]short repeat Pathogenic 223202 rs869025644 3:10188227-10188228 3:10146543-10146544

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 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 9.5 VEGFA CHGB CHGA
2 Cul2-RING ubiquitin ligase complex GO:0031462 9.26 ELOB CUL2
3 respiratory chain complex II GO:0045273 9.16 SDHC SDHB
4 VCB complex GO:0030891 9.13 VHL ELOB CUL2
5 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:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cerebral cortex development GO:0021987 9.67 NPY NF1 HIF1A
2 positive regulation of endothelial cell proliferation GO:0001938 9.65 VEGFA NF1 HIF1A
3 mammary gland alveolus development GO:0060749 9.52 VEGFA CCND1
4 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.51 RET NF1
5 lactation GO:0007595 9.5 VEGFA HIF1A CCND1
6 monoamine transport GO:0015844 9.46 SLC6A2 SLC18A1
7 positive regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061419 9.43 VEGFA HIF1A
8 tricarboxylic acid cycle GO:0006099 9.43 SDHD SDHC SDHB
9 post-translational protein modification GO:0043687 9.43 VHL MEN1 HIF1A ELOB CUL2 CHGB
10 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.4 SDHD SDHC
11 hemoglobin biosynthetic process GO:0042541 9.37 INHA HIF1A
12 camera-type eye morphogenesis GO:0048593 9.33 VEGFA NF1 HIF1A
13 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 9.5 SDHD SDHC SDHB
2 ubiquinone binding GO:0048039 9.26 SDHD SDHB
3 monoamine transmembrane transporter activity GO:0008504 9.16 SLC6A2 SLC18A1
4 succinate dehydrogenase (ubiquinone) activity GO:0008177 8.96 SDHD SDHB
5 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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