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VHL
MCID: VNH007
MIFTS: 73

Von Hippel-Lindau Syndrome (VHL)

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

About this section

MalaCards integrated aliases for Von Hippel-Lindau Syndrome:

Name: Von Hippel-Lindau Syndrome 57 12 24 53 25 59 74 37 29 13 6 40 72
Von Hippel-Lindau Disease 12 75 24 53 25 54 59 74 55 43 44 15
Vhl Syndrome 24 53 25
Vhl 57 53 59
Von Hippel-Lindau Syndrome, Modifier of 57 6
Cerebelloretinal Angiomatosis, Familial 25
Familial Cerebelloretinal Angiomatosis 59
Hippel Lindau Syndrome 12
Hippel-Lindau Disease 25
Angiomatosis Retinae 25
Von Hippel-Lindau 29
Lindau Disease 59
Vhld 74

Characteristics:

Orphanet epidemiological data:

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

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
von hippel-lindau syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

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

Classifications:

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


External Ids:

Disease Ontology 12 DOID:14175
OMIM 57 193300
KEGG 37 H00559
MeSH 44 D006623
NCIt 50 C3105
SNOMED-CT 68 46659004
ICD10 33 Q85.8
MESH via Orphanet 45 D006623
ICD10 via Orphanet 34 Q85.8
UMLS via Orphanet 73 C0019562
Orphanet 59 ORPHA892
UMLS 72 C0019562
Sources

Summaries for Von Hippel-Lindau Syndrome

About this section
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, adrenal gland and pancreas, and related phenotypes are nystagmus and neurological speech impairment

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

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

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

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

KEGG : 37
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 : 74 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 : 75 von Hippel-Lindau disease (VHL), is a rare genetic disorder with multisystem involvement. It is... more...

GeneReviews: NBK1463
Sources

Related Diseases for Von Hippel-Lindau Syndrome

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

(show top 50) (show all 509)
# Related Disease Score Top Affiliating Genes
1 erythrocytosis, familial, 2 33.9 VHL HIF1A
2 hemangioblastoma 33.7 VHL VEGFA INHA
3 pancreatic serous cystadenoma 33.5 VHL VEGFA CHGA
4 hereditary paraganglioma-pheochromocytoma syndromes 32.8 VHL SDHD SDHC SDHB RET
5 microcystic adenoma 32.7 VHL INHA
6 fumarate hydratase deficiency 32.3 VHL HIF1A
7 hypoxia 32.2 VHL VEGFA HIF1A CUL2
8 clear cell renal cell carcinoma 32.0 VHL VEGFA HIF1A ELOB
9 acute mountain sickness 32.0 VHL VEGFA HIF1A
10 cystadenoma 31.6 VHL INHA CHGA
11 extra-adrenal pheochromocytoma 31.1 SDHD SDHC SDHB PNMT
12 kidney cancer 31.1 VHL VEGFA HIF1A
13 retinal hemangioblastoma 31.0 VHL VEGFA HIF1A
14 neuroendocrine tumor 30.9 MEN1 CHGB CHGA
15 malignant pheochromocytoma 30.8 SDHB PNMT CHGA
16 hyperparathyroidism 30.7 RET MEN1 CHGA
17 neural crest tumor 30.4 SDHD SDHC SDHB
18 hemangioma 30.2 VHL VEGFA RET HIF1A CHGA
19 carcinoid tumors, intestinal 30.2 SDHD MEN1 CHGB CHGA
20 primary hyperparathyroidism 30.2 RET MEN1 CHGA CCND1
21 paragangliomas 1 30.1 SDHD SDHC SDHB RET CHGA
22 thyroid carcinoma, familial medullary 30.1 RET MEN1 CHGB CHGA
23 carcinoid syndrome 30.0 VEGFA NPY MEN1 CHGA
24 neurofibromatosis, type iv, of riccardi 30.0 VHL SDHD SDHC SDHB RET NF1
25 tuberous sclerosis 30.0 VHL TSC2 NF1
26 hereditary leiomyomatosis and renal cell cancer 29.9 SDHB HIF1A
27 paraganglioma 29.9 VHL SDHD SDHC SDHB RET NF1
28 meningioma, familial 29.9 VEGFA NF1 MEN1
29 multiple endocrine neoplasia, type iia 29.9 SDHD SDHB RET NF1 MEN1
30 sporadic pheochromocytoma 29.7 VHL SDHD SDHC SDHB RET NF1
31 multiple endocrine neoplasia, type i 29.6 SDHD SDHB RET MEN1 CHGA
32 thyroid cancer, nonmedullary, 2 29.6 RET MEN1 CHGA
33 multiple endocrine neoplasia 29.4 VHL SDHC SDHB RET PNMT NF1
34 renal cell carcinoma, nonpapillary 29.3 VHL VEGFA TSC2 SDHB HIF1A ELOB
35 endocrine gland cancer 29.2 VEGFA RET MEN1 CHGA CCND1
36 pheochromocytoma 28.0 VHL SDHD SDHC SDHB RET PNMT
37 autosomal recessive secondary polycythemia not associated with vhl gene 12.3
38 endolymphatic sac tumor 12.0
39 inherited cancer-predisposing syndrome 11.9
40 polycythemia 11.8
41 insulinoma 11.7
42 adrenal carcinoma 11.7
43 cerebellar angioblastoma 11.6
44 erythrocytosis, familial, 1 11.5
45 cardiovascular organ benign neoplasm 11.2
46 hemangioma of liver 11.2
47 acute leukemia of ambiguous lineage 11.2
48 catecholamine-producing tumor 11.2
49 adenoma of pancreas 11.2
50 headache 11.1

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



Diseases related to Von Hippel-Lindau Syndrome
Sources

Symptoms & Phenotypes for Von Hippel-Lindau Syndrome

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Human phenotypes related to Von Hippel-Lindau Syndrome:

59 32 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000639
2 neurological speech impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0002167
3 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
4 arteriovenous malformation 59 32 hallmark (90%) Very frequent (99-80%) HP:0100026
5 aplasia/hypoplasia of the cerebellum 59 32 hallmark (90%) Very frequent (99-80%) HP:0007360
6 pancreatic cysts 59 32 hallmark (90%) Very frequent (99-80%) HP:0001737
7 renal cell carcinoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0005584
8 retinal capillary hemangioma 59 32 hallmark (90%) Very frequent (99-80%) HP:0009711
9 abnormality of the cerebral vasculature 59 32 hallmark (90%) Very frequent (99-80%) HP:0100659
10 visceral angiomatosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100761
11 abnormal retinal vascular morphology 32 hallmark (90%) HP:0008046
12 hydrocephalus 59 32 frequent (33%) Frequent (79-30%) HP:0000238
13 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
14 gait disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0001288
15 nausea and vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002017
16 telangiectasia of the skin 59 32 frequent (33%) Frequent (79-30%) HP:0100585
17 sensory neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0000763
18 hemiplegia/hemiparesis 59 32 frequent (33%) Frequent (79-30%) HP:0004374
19 migraine 59 32 frequent (33%) Frequent (79-30%) HP:0002076
20 multicystic kidney dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0000003
21 polycystic kidney dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0000113
22 capillary hemangioma 59 32 frequent (33%) Frequent (79-30%) HP:0005306
23 papillary cystadenoma of the epididymis 59 32 frequent (33%) Frequent (79-30%) HP:0009715
24 hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0000822
25 hyperhidrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000975
26 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
27 increased intracranial pressure 59 32 occasional (7.5%) Occasional (29-5%) HP:0002516
28 arrhythmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0011675
29 glaucoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000501
30 retinal detachment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000541
31 visual loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0000572
32 pheochromocytoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002666
33 multiple renal cysts 59 32 occasional (7.5%) Occasional (29-5%) HP:0005562
34 abnormality of the lymphatic system 59 32 occasional (7.5%) Occasional (29-5%) HP:0100763
35 neoplasm of the middle ear 59 32 occasional (7.5%) Occasional (29-5%) HP:0100799
36 hearing impairment 59 Occasional (29-5%)
37 visual impairment 59 Very frequent (99-80%)
38 neoplasm 59 Occasional (29-5%)
39 abnormality of the retinal vasculature 59 Very frequent (99-80%)
40 vertigo 32 HP:0002321
41 abnormality of the kidney 59 Frequent (79-30%)
42 abnormality of the pancreas 59 Occasional (29-5%)
43 neuroendocrine neoplasm 59 Occasional (29-5%)
44 vascular neoplasm 59 Very frequent (99-80%)
45 tinnitus 32 HP:0000360
46 neoplasm of the pancreas 32 HP:0002894
47 abnormality of the liver 32 HP:0001392
48 polycythemia 32 HP:0001901
49 paraganglioma 32 HP:0002668
50 epididymal cyst 32 HP:0030424

Symptoms via clinical synopsis from OMIM:

57
Endocrine Features:
hypertension
adrenal hemangiomas

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

Neurologic Central Nervous System:
cerebellar hemangioblastoma

Respiratory Lung:
pulmonary hemangiomas

Abdomen Pancreas:
multiple pancreatic cysts
pancreatic hemangioblastoma

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

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

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

Head And Neck Eyes:
retinal angiomata

Abdomen Liver:
liver hemangiomas

Neurologic Peripheral Nervous System:
spinal cord hemangioblastoma

Clinical features from OMIM:

193300

UMLS symptoms related to Von Hippel-Lindau Syndrome:


vertigo, tinnitus

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

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

MGI Mouse Phenotypes related to Von Hippel-Lindau Syndrome:

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

Drugs & Therapeutics for Von Hippel-Lindau Syndrome

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

(show top 50) (show all 64)
# 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 Neurotransmitter Agents Phase 4
4 Antihypertensive Agents Phase 4
5 Adrenergic alpha-1 Receptor Antagonists Phase 4
6 Adrenergic alpha-Antagonists Phase 4
7 Adrenergic Antagonists Phase 4
8 Adrenergic Agents Phase 4
9 Vasodilator Agents Phase 4
10
Sirolimus Approved, Investigational Phase 3 53123-88-9 6436030 5284616 46835353
11
Everolimus Approved Phase 3 159351-69-6 6442177 70789204
12
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
13
Tyrosine Approved, Investigational, Nutraceutical Phase 3 60-18-4 6057
14 Antifungal Agents Phase 3
15 Anti-Bacterial Agents Phase 3
16 Antibiotics, Antitubercular Phase 3
17 Immunosuppressive Agents Phase 3
18
Bevacizumab Approved, Investigational Phase 1, Phase 2 216974-75-3
19
Ranibizumab Approved Phase 1, Phase 2 347396-82-1 459903
20
Bortezomib Approved, Investigational Phase 2 179324-69-7 93860 387447
21
Somatostatin Approved, Investigational Phase 2 38916-34-6, 51110-01-1 53481605
22
Deferoxamine Approved, Investigational Phase 2 70-51-9 2973
23
Iron Approved, Experimental Phase 2 15438-31-0, 7439-89-6 23925 27284
24
Sunitinib Approved, Investigational Phase 1, Phase 2 557795-19-4, 341031-54-7 5329102
25
Pancrelipase Approved, Investigational Phase 2 53608-75-6
26
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
27
Gefitinib Approved, Investigational Phase 2 184475-35-2 123631
28
Peginterferon alfa-2b Approved Phase 2 99210-65-8, 215647-85-1
29
Histidine Approved, Nutraceutical Phase 1, Phase 2 71-00-1 6274
30
Vatalanib Investigational Phase 2 212141-54-3 151194
31 Antineoplastic Agents, Immunological Phase 1, Phase 2
32 Fluorodeoxyglucose F18 Phase 2
33 Gastrointestinal Agents Phase 2
34
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
35 Pharmaceutical Solutions Phase 2
36 Siderophores Phase 2
37 Chelating Agents Phase 2
38 Iron Chelating Agents Phase 2
39 Angiogenesis Inhibitors Phase 1, Phase 2
40 Protein Kinase Inhibitors Phase 1, Phase 2
41 Angiogenesis Modulating Agents Phase 1, Phase 2
42 pancreatin Phase 2
43 Mitogens Phase 2
44 Endothelial Growth Factors Phase 2
45 Immunologic Factors Phase 2
46 Interferon alpha-2 Phase 2
47 Interferon-alpha Phase 2
48 interferons Phase 2
49 Antiviral Agents Phase 2
50
Vorinostat Approved, Investigational Phase 1 149647-78-9 5311

Interventional clinical trials:

(show top 50) (show all 56)
# 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 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)
10 A Novel Non-Invasive In Vivo Imaging System to Measure Retinal Metabolism Completed NCT00385333 Phase 2
11 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
12 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
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 pazopanib_NCRCC,Ph2 STUDY Completed NCT01538238 Phase 2 pazopanib
15 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
16 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
17 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
18 A Phase II Trial of Pazopanib in Von Hippel-Lindau Syndrome Active, not recruiting NCT01436227 Phase 2 Pazopanib
19 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
20 Evaluation of (68)Gallium- DOTATATE PET/CT for Detecting Primary and Metastatic Neuroendocrine Tumors Active, not recruiting NCT01967537 Phase 2 68Gallium DOTATATE
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 Phase II Trial of ZD1839 (IRESSA®) and Pegylated Interferon Alfa 2b (PEG-Intronâ„¢) in Unresectable or Metastatic Renal Cell Carcinoma Terminated NCT00467077 Phase 2 gefitinib
26 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
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 Psychosocial Consequences of the Screening of Von Hippel Lindau Diseases for Patients Operated for a hémangioblastoma of Nervous Centrasl System Unknown status NCT02120040
36 Assessment of Residual VHL Function in Tumors - Can it Predict the Patients' Individual Course of Disease? Unknown status NCT02207686
37 Genetic Mutation Analysis In A VHL Population Completed NCT00075348
38 Visualizing VEGF Producing Lesions in Von Hippel-Lindau Disease Completed NCT00970970
39 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
40 Evaluation of the Natural History and Management of Pancreatic Lesions Associated With Von Hippel-Lindau Completed NCT00062166
41 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
42 89Zr-bevacizumab PET Imaging in Patients With Renal Cell Carcinoma Treated With Everolimus; a Pilot Study Completed NCT01028638
43 MyVHL: Patient Natural History Study Recruiting NCT03749980
44 An International Collaborative Study: Screening for Endolymphatic Sac Tumours (ELSTs) in Von Hippel-Lindau (vHL) Patients Recruiting NCT02420067
45 NEI Intramural Biorepository for Retinal Diseases Recruiting NCT01496625
46 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
47 Clinical Manifestations and Molecular Bases of Heritable Urologic Malignant Disorders Recruiting NCT00001238
48 Nivolumab in mRCC Patients: Treg Function, T-cell Access and NK Interactions to Predict and Improve Efficacy Recruiting NCT03891485
49 Evaluation of a Promising New Combination of Protein Kinase Inhibitors on Organotypic Cultures of Human Renal Tumors Recruiting NCT03571438 Sunitinib;Pazopanib;Temsirolimus
50 Prospective Analysis About the Utility of Contrast Enhanced Endoscopic Ultrasound and Molecular Analysis in the Study of Pancreatic Cyst Recruiting NCT03740360

Search NIH Clinical Center for Von Hippel-Lindau Syndrome

Cochrane evidence based reviews: von hippel-lindau disease

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Genetic Tests for Von Hippel-Lindau Syndrome

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Genetic tests related to Von Hippel-Lindau Syndrome:

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

Anatomical Context for Von Hippel-Lindau Syndrome

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

41
Kidney, Adrenal Gland, Pancreas, Spinal Cord, Testes, Brain, Retina
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Publications for Von Hippel-Lindau Syndrome

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Articles related to Von Hippel-Lindau Syndrome:

(show top 50) (show all 2410)
# Title Authors PMID Year
1
Functioning carotid paraganglioma in the von Hippel-Lindau syndrome. 38 4 8 71
9880225 1998
2
Genotype-phenotype correlations in von Hippel-Lindau disease. 38 8 71
17024664 2007
3
Mosaicism in von Hippel-Lindau disease: lessons from kindreds with germline mutations identified in offspring with mosaic parents. 9 38 4 8
10631138 2000
4
Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. 38 8 71
9829911 1998
5
Genotype-phenotype correlation in von Hippel-Lindau disease: identification of a mutation associated with VHL type 2A. 38 8 71
8863170 1996
6
Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. 38 8 71
8956040 1996
7
Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. 38 8 71
7728151 1995
8
Molecular genetic investigations of the mechanism of tumourigenesis in von Hippel-Lindau disease: analysis of allele loss in VHL tumours. 38 8 71
8270255 1994
9
Three-decade investigation of familial pheochromocytoma. An allele of von Hippel-Lindau disease? 38 8 71
8239848 1993
10
Genetic analysis of von Hippel-Lindau disease. 38 4 8
20151405 2010
11
Solid renal tumor severity in von Hippel Lindau disease is related to germline deletion length and location. 38 4 8
14695531 2004
12
Salvage external beam radiotherapy of retinal capillary hemangiomas secondary to von Hippel-Lindau disease: visual and anatomic outcomes. 38 4 8
14711727 2004
13
VHL2C phenotype in a German von Hippel-Lindau family with concurrent VHL germline mutations P81S and L188V. 38 4 71
12414898 2002
14
Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study. 38 4 71
12202531 2002
15
Two distinct phenotypes caused by two different missense mutations in the same codon of the VHL gene. 8 71
10533030 1999
16
Von Hippel-Lindau (VHL) disease with pheochromocytoma in the Black Forest region of Germany: evidence for a founder effect. 8 71
7759077 1995
17
Von Hippel-Lindau disease: a genetic study. 38 4 8
1895313 1991
18
Familial pheochromocytoma. 8 71
13985160 1962
19
Risk of new tumors in von Hippel-Lindau patients depends on age and genotype. 4 8
25834951 2016
20
Genotype-phenotype correlations in VHL exon deletions. 4 8
19764026 2009
21
The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma. 4 71
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. 4 71
12114495 2002
23
Germ-line mutations in nonsyndromic pheochromocytoma. 9 38 71
12000816 2002
24
Molecular diagnosis of von Hippel-Lindau disease in a kindred with a predominance of familial phaeochromocytoma. 9 38 71
9156047 1997
25
Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II. 9 38 71
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. 38 8
22357542 2012
27
Germline mutations in the von Hippel-Lindau gene in Italian patients. 38 8
19464396 2009
28
Alu-Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients. 38 8
19280651 2009
29
Mechanisms of morbid hearing loss associated with tumors of the endolymphatic sac in von Hippel-Lindau disease. 38 8
17609489 2007
30
Genotype-phenotype correlation in von Hippel-Lindau disease with retinal angiomatosis. 38 8
17296901 2007
31
Molecular pathology and CXCR4 expression in surgically excised retinal hemangioblastomas associated with von Hippel-Lindau disease. 38 8
17070589 2007
32
Von Hippel-Lindau disease. 9 38 4
18039096 2007
33
Renal cell carcinoma risk in type 2 von Hippel-Lindau disease correlates with defects in pVHL stability and HIF-1alpha interactions. 9 38 4
16261165 2006
34
Ocular manifestations of von Hippel-Lindau disease: clinical and genetic investigations. 38 8
17057815 2005
35
Tumors of the endolymphatic sac in von Hippel-Lindau disease. 38 8
15190140 2004
36
Spectrum of abdominal imaging findings in von Hippel-Lindau disease. 38 8
14500227 2003
37
von Hippel-Lindau disease. 9 38 4
12814730 2003
38
Clinical review 155: Pheochromocytoma in Von Hippel-Lindau disease. 38 8
12629069 2003
39
Genetic and functional analysis of the von Hippel-Lindau (VHL) tumour suppressor gene promoter. 38 8
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. 38 71
12097293 2002
41
Molecular characterization and ophthalmic investigation of a large family with type 2A Von Hippel-Lindau Disease. 38 71
11709017 2001
42
VHL c.505 T>C mutation confers a high age related penetrance but no increased overall mortality. 38 71
11483638 2001
43
Pheochromocytomas in von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2 display distinct biochemical and clinical phenotypes. 38 8
11344198 2001
44
Genotype-phenotype correlation in von Hippel-Lindau syndrome. 38 8
11257110 2001
45
Cryptic von Hippel-Lindau disease: germline mutations in patients with haemangioblastoma only. 38 8
11106358 2000
46
Von Hippel-Lindau Syndrome 38 71
20301636 2000
47
[Identification of a de novo mutation in a patient without von Hippel-Lindau syndrome: clinical and diagnostic implications]. 38 71
10570625 1999
48
An analysis of phenotypic variation in the familial cancer syndrome von Hippel-Lindau disease: evidence for modifier effects. 38 8
9758595 1998
49
Germline mutations detected in the von Hippel-Lindau disease tumor suppressor gene by Southern blot and direct genomic DNA sequencing. 38 71
9452032 1998
50
Functioning thoracic paraganglioma: association with Von Hippel-Lindau syndrome. 38 8
9329368 1997
Sources

Variations for Von Hippel-Lindau Syndrome

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ClinVar genetic disease variations for Von Hippel-Lindau Syndrome:

6 (show top 50) (show all 662)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 VHL NC_000003.11: g.(?_10183319)_(10183871_?)del deletion Pathogenic 3:10183319-10183871 3:10141635-10142187
2 VHL NC_000003.11: g.(?_10188198)_(10188320_?)del deletion Pathogenic 3:10188198-10188320 3:10146514-10146636
3 VHL NM_000551.3(VHL): c.226_227del (p.Phe76fs) deletion Pathogenic rs1060503552 3:10183757-10183758 3:10142073-10142074
4 VHL deletion Pathogenic
5 VHL NM_000551.3(VHL): c.422dup (p.Asn141fs) duplication Pathogenic rs1553619976 3:10188279-10188279 3:10146595-10146595
6 VHL NM_000551.3(VHL): c.208G> T (p.Glu70Ter) single nucleotide variant Pathogenic rs5030802 3:10183739-10183739 3:10142055-10142055
7 VHL NM_000551.3(VHL): c.278del (p.Gly93fs) deletion Pathogenic rs1131690964 3:10183809-10183809 3:10142125-10142125
8 VHL NM_000551.3(VHL): c.353T> C (p.Leu118Pro) single nucleotide variant Pathogenic rs5030830 3:10188210-10188210 3:10146526-10146526
9 VHL deletion Pathogenic
10 VHL NM_000551.3(VHL): c.262T> A (p.Trp88Arg) single nucleotide variant Pathogenic rs1553619431 3:10183793-10183793 3:10142109-10142109
11 VHL NM_000551.3(VHL): c.377del (p.Asp126fs) deletion Pathogenic rs1553619952 3:10188234-10188234 3:10146550-10146550
12 VHL deletion Pathogenic
13 VHL NM_000551.3(VHL): c.206dup (p.Glu70fs) duplication Pathogenic rs1553619415 3:10183737-10183737 3:10142053-10142053
14 VHL NM_000551.3(VHL): c.278G> A (p.Gly93Asp) single nucleotide variant Pathogenic rs1553619440 3:10183809-10183809 3:10142125-10142125
15 VHL NM_000551.3(VHL): c.313A> C (p.Thr105Pro) single nucleotide variant Pathogenic rs1553619461 3:10183844-10183844 3:10142160-10142160
16 VHL NM_000551.3(VHL): c.395A> C (p.Gln132Pro) single nucleotide variant Pathogenic rs1347416980 3:10188252-10188252 3:10146568-10146568
17 VHL NM_000551.3(VHL): c.474_476delinsC (p.Lys159fs) indel Pathogenic rs1553620305 3:10191481-10191483 3:10149797-10149799
18 VHL NM_000551.3(VHL): c.355T> C (p.Phe119Leu) single nucleotide variant Pathogenic rs1553619948 3:10188212-10188212 3:10146528-10146528
19 VHL NM_000551.3(VHL): c.238A> C (p.Ser80Arg) single nucleotide variant Pathogenic rs786202787 3:10183769-10183769 3:10142085-10142085
20 VHL NM_000551.3(VHL): c.484T> C (p.Cys162Arg) single nucleotide variant Pathogenic rs1553620313 3:10191491-10191491 3:10149807-10149807
21 VHL NM_000551.3(VHL): c.345C> A (p.His115Gln) single nucleotide variant Pathogenic rs864622646 3:10188202-10188202 3:10146518-10146518
22 VHL NM_000551.3(VHL): c.262T> C (p.Trp88Arg) single nucleotide variant Pathogenic rs1553619431 3:10183793-10183793 3:10142109-10142109
23 VHL NM_000551.3(VHL): c.500G> T (p.Arg167Leu) single nucleotide variant Pathogenic rs5030821 3:10191507-10191507 3:10149823-10149823
24 VHL NM_000551.3(VHL): c.463+1G> A single nucleotide variant Pathogenic rs869025657 3:10188321-10188321 3:10146637-10146637
25 VHL NM_000551.3(VHL): c.245G> T (p.Arg82Leu) single nucleotide variant Pathogenic rs794726890 3:10183776-10183776 3:10142092-10142092
26 VHL NM_000551.3(VHL): c.193T> C (p.Ser65Pro) single nucleotide variant Pathogenic rs869025616 3:10183724-10183724 3:10142040-10142040
27 VHL NM_000551.3(VHL): c.585_586del (p.Lys196fs) deletion Pathogenic rs1553620362 3:10191592-10191593 3:10149908-10149909
28 VHL NM_000551.3(VHL): c.223_225del (p.Ile75del) deletion Pathogenic rs794729660 3:10183754-10183756 3:10142070-10142072
29 VHL NM_000551.3(VHL): c.548C> A (p.Ser183Ter) single nucleotide variant Pathogenic rs5030823 3:10191555-10191555 3:10149871-10149871
30 VHL NM_000551.3(VHL): c.500G> A (p.Arg167Gln) single nucleotide variant Pathogenic rs5030821 3:10191507-10191507 3:10149823-10149823
31 VHL NM_000551.3(VHL): c.481C> T (p.Arg161Ter) single nucleotide variant Pathogenic rs5030818 3:10191488-10191488 3:10149804-10149804
32 VHL NM_000551.3(VHL): c.499C> T (p.Arg167Trp) single nucleotide variant Pathogenic rs5030820 3:10191506-10191506 3:10149822-10149822
33 VHL NM_000551.3(VHL): c.263G> C (p.Trp88Ser) single nucleotide variant Pathogenic rs119103277 3:10183794-10183794 3:10142110-10142110
34 VHL NM_000551.3(VHL): c.334T> C (p.Tyr112His) single nucleotide variant Pathogenic rs104893824 3:10183865-10183865 3:10142181-10142181
35 VHL NM_000551.3(VHL): c.292T> C (p.Tyr98His) single nucleotide variant Pathogenic rs5030809 3:10183823-10183823 3:10142139-10142139
36 VHL NM_000551.3(VHL): c.496G> T (p.Val166Phe) single nucleotide variant Pathogenic rs104893825 3:10191503-10191503 3:10149819-10149819
37 VHL NM_000551.3(VHL): c.334T> A (p.Tyr112Asn) single nucleotide variant Pathogenic rs104893824 3:10183865-10183865 3:10142181-10142181
38 VHL NM_000551.3(VHL): c.388G> C (p.Val130Leu) single nucleotide variant Pathogenic rs104893830 3:10188245-10188245 3:10146561-10146561
39 VHL NM_000551.3(VHL): c.250G> T (p.Val84Leu) single nucleotide variant Pathogenic rs5030827 3:10183781-10183781 3:10142097-10142097
40 VHL NM_000551.3(VHL): c.277G> A (p.Gly93Ser) single nucleotide variant Pathogenic rs5030808 3:10183808-10183808 3:10142124-10142124
41 VHL NM_000551.3(VHL): c.491A> G (p.Gln164Arg) single nucleotide variant Pathogenic rs267607170 3:10191498-10191498 3:10149814-10149814
42 VHL NM_000551.3(VHL): c.194C> G (p.Ser65Trp) single nucleotide variant Pathogenic rs5030826 3:10183725-10183725 3:10142041-10142041
43 VHL NM_000551.3(VHL): c.464-1G> A single nucleotide variant Pathogenic rs5030817 3:10191470-10191470 3:10149786-10149786
44 VHL NM_000551.3(VHL): c.485G> T (p.Cys162Phe) single nucleotide variant Pathogenic rs397516444 3:10191492-10191492 3:10149808-10149808
45 VHL NM_000551.3(VHL): c.497T> C (p.Val166Ala) single nucleotide variant Pathogenic rs397516445 3:10191504-10191504 3:10149820-10149820
46 VHL NM_000551.3(VHL): c.233A> G (p.Asn78Ser) single nucleotide variant Pathogenic rs5030804 3:10183764-10183764 3:10142080-10142080
47 VHL NM_000551.3(VHL): c.408del (p.Phe136fs) deletion Pathogenic rs397516442 3:10188265-10188265 3:10146581-10146581
48 VHL NM_000551.3(VHL): c.501_502insTTGTCCGT (p.Ser168fs) insertion Pathogenic rs398123483 3:10191508-10191509 3:10149824-10149825
49 VHL NM_000551.3(VHL): c.445G> T (p.Ala149Ser) single nucleotide variant Pathogenic rs587780077 3:10188302-10188302 3:10146618-10146618
50 VHL NM_000551.3(VHL): c.(?_464)_642+?del deletion Pathogenic 3:10191471-10191649 3:10149787-10149965

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

74 (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 2206)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)		 Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM14283 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.491A>G p.Q164R 3:10149814-10149814 20
2 COSM17662 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.492G>T p.Q164H 3:10149815-10149815 20
3 COSM14321 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.227T>A p.F76Y 3:10142074-10142074 20
4 COSM6444479 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.260T>C p.V87A 3:10142107-10142107 20
5 COSM144975 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.475A>G p.K159E 3:10149798-10149798 20
6 COSM100047 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.389T>G p.V130G 3:10146562-10146562 20
7 COSM966 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.1900T>C p.C634R 10:43114500-43114500 20
8 COSM965 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.2753T>C p.M918T 10:43121968-43121968 20
9 COSM220089 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1885G>A p.Q616fs*4 17:31225134-31225134 20
10 COSM329092 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1721+3A>T p.A548fs*13 17:31221932-31221932 20
11 COSM30670 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7646C>G p.S2549* 17:31356490-31356490 20
12 COSM329090 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.226G>T p.E76* 17:31159031-31159031 20
13 COSM5885098 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.5665G>T p.E1889* 17:31330351-31330351 20
14 COSM329093 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1722-1G>A p.? 17:31223443-31223443 20
15 COSM330587 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.205-1G>C p.R69Xfs*7 17:31159009-31159009 20
16 COSM327926 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.3158C>A p.S1053* 17:31230886-31230886 20
17 COSM327927 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7582C>T p.Q2528* 17:31352381-31352381 20
18 COSM33676 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.6855C>A p.Y2285* 17:31338739-31338739 20
19 COSM1710108 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7300C>T p.Q2434* 17:31349230-31349230 20
20 COSM330588 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.2409+1G>A p.A776_Q803del 17:31227607-31227607 20
21 COSM329089 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1466A>G p.Y489C 17:31214524-31214524 20
22 COSM707 MET adrenal gland,adrenal gland,pheochromocytoma,benign c.3029C>T p.T1010I 7:116771936-116771936 20
23 COSM5967149 MET adrenal gland,adrenal gland,pheochromocytoma,benign c.607T>A p.S203T 7:116699691-116699691 20
24 COSM5946188 MET adrenal gland,adrenal gland,pheochromocytoma,benign c.352A>T p.M118L 7:116699436-116699436 20
25 COSM499 HRAS adrenal gland,adrenal gland,pheochromocytoma,benign c.182A>G p.Q61R 11:533874-533874 20
26 COSM496 HRAS adrenal gland,adrenal gland,pheochromocytoma,benign c.181C>A p.Q61K 11:533875-533875 20
27 COSM486 HRAS adrenal gland,adrenal gland,pheochromocytoma,benign c.37G>C p.G13R 11:534286-534286 20
28 COSM1732355 H3-3A adrenal gland,adrenal gland,pheochromocytoma,benign c.103G>T p.G35W 1:226064454-226064454 20
29 COSM19176 FGFR1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1638C>A p.N546K 8:38417331-38417331 20
30 COSM6188660 EPAS1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1592C>T p.P531L 2:46380264-46380264 20
31 COSM6196613 EPAS1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1589C>A p.A530E 2:46380261-46380261 20
32 COSM6188649 EPAS1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1595A>G p.Y532C 2:46380267-46380267 20
33 COSM6196778 EPAS1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1104G>A p.M368I 2:46376608-46376608 20
34 COSM144972 VHL adrenal gland,NS,pheochromocytoma,benign c.245G>T p.R82L 3:10142092-10142092 15
35 COSM144971 VHL adrenal gland,NS,pheochromocytoma,benign c.244C>G p.R82G 3:10142091-10142091 15
36 COSM3402726 NF1 adrenal gland,NS,pheochromocytoma,benign c.1307C>A p.S436* 17:31206286-31206286 15
37 COSM6476262 EPAS1 adrenal gland,NS,pheochromocytoma,benign c.1601C>T p.P534L 2:46380273-46380273 15
38 COSM249350 ZNF804A kidney,NS,carcinoma,clear cell renal cell carcinoma c.2363A>C p.Q788P 2:184937759-184937759 12
39 COSM249389 ZNF804A kidney,NS,carcinoma,clear cell renal cell carcinoma c.121G>C p.E41Q 2:184866378-184866378 12
40 COSM249348 ZNF800 kidney,NS,carcinoma,clear cell renal cell carcinoma c.719A>G p.N240S 7:127374617-127374617 12
41 COSM249454 ZNF521 kidney,NS,carcinoma,clear cell renal cell carcinoma c.3298A>G p.S1100G 18:25224620-25224620 12
42 COSM30510 ZNF423 kidney,NS,carcinoma,clear cell renal cell carcinoma c.3559G>A p.V1187I 16:49626188-49626188 12
43 COSM6970086 ZFHX3 kidney,NS,carcinoma,clear cell renal cell carcinoma c.7052G>A p.C2351Y 16:72795630-72795630 12
44 COSM3276983 ZFHX3 kidney,NS,carcinoma,clear cell renal cell carcinoma c.745G>A p.G249S 16:72959401-72959401 12
45 COSM6961023 YES1 kidney,NS,carcinoma,clear cell renal cell carcinoma c.1069T>A p.L357I 18:739803-739803 12
46 COSM6935891 YAP1 kidney,NS,carcinoma,clear cell renal cell carcinoma c.374C>G p.A125G 11:102114196-102114196 12
47 COSM6946890 XIAP kidney,NS,carcinoma,clear cell renal cell carcinoma c.1001A>T p.K334M 23:123891261-123891261 12
48 COSM6941466 XIAP kidney,NS,carcinoma,renal cell carcinoma unclassified c.563G>C p.G188A 23:123886225-123886225 12
49 COSM249421 WWP2 kidney,NS,carcinoma,clear cell renal cell carcinoma c.2056G>C p.E686Q 16:69936391-69936391 12
50 COSM1272065 WT1 kidney,NS,carcinoma,clear cell renal cell carcinoma c.332C>A p.P111H 11:32434810-32434810 12

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

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

Expression for Von Hippel-Lindau Syndrome

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

Pathways for Von Hippel-Lindau Syndrome

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

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

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

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

GO Terms for Von Hippel-Lindau Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 secretory granule GO:0030141 9.5 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 15)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.76 VHL TSC2 NF1 MEN1
2 cerebral cortex development GO:0021987 9.67 NPY NF1 HIF1A
3 positive regulation of endothelial cell proliferation GO:0001938 9.65 VEGFA NF1 HIF1A
4 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0030949 9.55 VEGFA HIF1A
5 response to iron ion GO:0010039 9.54 HIF1A CCND1
6 mammary gland alveolus development GO:0060749 9.52 VEGFA CCND1
7 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.51 RET NF1
8 lactation GO:0007595 9.5 VEGFA HIF1A CCND1
9 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.43 SDHD SDHC
10 tricarboxylic acid cycle GO:0006099 9.43 SDHD SDHC SDHB
11 post-translational protein modification GO:0043687 9.43 VHL MEN1 HIF1A ELOB CUL2 CHGB
12 positive regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061419 9.4 VEGFA HIF1A
13 hemoglobin biosynthetic process GO:0042541 9.37 INHA HIF1A
14 camera-type eye morphogenesis GO:0048593 9.33 VEGFA NF1 HIF1A
15 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 hormone activity GO:0005179 9.43 NPY INHA CHGB
2 electron transfer activity GO:0009055 9.33 SDHD SDHC SDHB
3 ubiquinone binding GO:0048039 8.96 SDHD SDHB
4 succinate dehydrogenase (ubiquinone) activity GO:0008177 8.8 SDHD SDHC SDHB
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Sources for Von Hippel-Lindau Syndrome

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