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MCID: VNH007
MIFTS: 72

Von Hippel-Lindau Syndrome

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

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MalaCards integrated aliases for Von Hippel-Lindau Syndrome:

Name: Von Hippel-Lindau Syndrome 53 12 23 49 24 55 71 36 28 13 69
Von Hippel-Lindau Disease 12 72 23 49 24 50 55 71 51 40 41 14
Vhl Syndrome 23 49 24
Vhl 53 49 55
Von Hippel-Lindau Syndrome, Modifier of 53
Cerebelloretinal Angiomatosis, Familial 24
Familial Cerebelloretinal Angiomatosis 55
Hippel Lindau Syndrome 12
Hippel-Lindau Disease 24
Angiomatosis Retinae 24
Von Hippel-Lindau 28
Lindau Disease 55
Vhld 71

Characteristics:

Orphanet epidemiological data:

55
von hippel-lindau disease
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (United Kingdom); Age of onset: Adult; Age of death: elderly;

OMIM:

53
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:
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance


GeneReviews:

23
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: Eye diseases Neuronal diseases Cardiovascular diseases Nephrological diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 55  
Rare neurological diseases
Rare eye diseases
Rare circulatory system diseases
Rare renal diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Von Hippel-Lindau Syndrome

About this section
OMIM : 53 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)

MalaCards based summary : Von Hippel-Lindau Syndrome, also known as von hippel-lindau disease, is related to hemangioblastoma and pancreatic serous cystadenoma, and has symptoms including ataxia, nausea and vomiting and hydrocephalus. An important gene associated with Von Hippel-Lindau Syndrome is VHL (Von Hippel-Lindau Tumor Suppressor), and among its related pathways/superpathways are Ubiquitin mediated proteolysis and Pathways in cancer. The drugs Everolimus and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include kidney, spinal cord and pancreas, and related phenotypes are Decreased sensitivity to paclitaxel and cardiovascular system

UniProtKB/Swiss-Prot : 71 von Hippel-Lindau disease: VHLD is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign neoplasms, most frequently retinal, cerebellar and spinal hemangioblastoma, renal cell carcinoma (RCC), pheochromocytoma, and pancreatic tumors. VHL type 1 is without pheochromocytoma, type 2 is with pheochromocytoma. VHL type 2 is further subdivided into types 2A (pheochromocytoma, retinal angioma, and hemangioblastomas without renal cell carcinoma and pancreatic cyst) and 2B (pheochromocytoma, retinal angioma, and hemangioblastomas with renal cell carcinoma and pancreatic cyst).

NIH Rare Diseases : 49 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. Last updated: 2/2/2016

MedlinePlus : 40 Von Hippel-Lindau disease (VHL) is a rare, genetic disease that causes tumors and cysts to grow in your body. The tumors can be either cancerous or benign. They can grow in your brain and spinal cord, kidneys, pancreas and, in men, their genital tract. Symptoms of VHL vary and 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 and high blood pressure. Detecting and treating VHL early is important. Treatment usually involves surgery or sometimes radiation therapy. The goal is to treat growths while they are small and before they do permanent damage. NIH: National Institute of Neurological Disorders and Stroke

NINDS : 50 Von Hippel-Lindau disease (VHL) is a rare, genetic multi-system disorder in which non-cancerous tumors grow in certain parts of the body. Slow-growing hemgioblastomas -- benign tumors with many blood vessels -- may develop in the brain, spinal cord, the retinas of the eyes, and near the inner ear. Cysts (fluid-filled sacs) may develop around the hemangioblastomas. Other types of tumors develop in the adrenal glands, the kidneys, or the pancreas. Symptoms of VHL vary among individuals and depend on the size and location of the tumors. Symptoms may include headaches, problems with balance and walking, dizziness, weakness of the limbs, vision problems, deafness in one ear, and high blood pressure. Individuals with VHL are also at a higher risk than normal for certain types of cancer, especially kidney cancer.

Genetics Home Reference : 24 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.

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 92)
# Related Disease Score Top Affiliating Genes
1 hemangioblastoma 33.2 INHA VEGFA VHL
2 pancreatic serous cystadenoma 33.0 CHGA VEGFA VHL
3 erythrocytosis, familial, 2 32.7 HIF1A VHL
4 clear cell renal cell carcinoma 31.9 CCND1 HIF1A VEGFA VHL
5 angiomatosis 31.0 TSC2 VHL
6 cystadenoma 30.6 CHGA INHA VHL
7 neuroendocrine tumor 30.3 CHGA CHGB MEN1 SDHD
8 sporadic pheochromocytoma 29.9 NF1 RET SDHB SDHC SDHD VHL
9 tuberous sclerosis 29.7 NF1 TSC2 VHL
10 paraganglioma 29.7 CHGA NF1 RET SDHB SDHC SDHD
11 hypoxia 29.6 CUL2 HIF1A VEGFA VHL
12 phaeochromocytoma 29.5 CHGA NF1 NPY RET SDHB SDHC
13 multiple endocrine neoplasia 29.4 CHGA MEN1 NF1 PNMT RET SDHB
14 pheochromocytoma 28.8 CHGA CHGB MEN1 NF1 NPY PNMT
15 renal cell carcinoma, nonpapillary 28.5 ELOB HIF1A SDHB SDHC TSC2 VEGFA
16 neurofibromatosis, type iv, of riccardi 28.5 MEN1 NF1 RET SDHB SDHC SDHD
17 autosomal recessive secondary polycythemia not associated with vhl gene 12.0
18 endolymphatic sac tumor 11.7
19 insulinoma 11.4
20 adrenal carcinoma 11.4
21 neural crest tumor 10.4 SDHB SDHC SDHD
22 paragangliomas 1 10.4 SDHB SDHC SDHD
23 carney triad 10.4 SDHB SDHC SDHD
24 paraganglioma and gastric stromal sarcoma 10.4 SDHB SDHC SDHD
25 chondroma 10.4 SDHB SDHC SDHD
26 lymph node disease 10.3 SDHB SDHC SDHD
27 gastrointestinal neuroendocrine tumor 10.3 CHGA VEGFA
28 mitochondrial complex ii deficiency 10.3 SDHB SDHC SDHD
29 lymphatic system disease 10.3 SDHB SDHC SDHD
30 multiple endocrine neoplasia type 1 and type 2 10.3 MEN1 RET
31 pancreatitis 10.3
32 microcystic adenoma 10.3 INHA VHL
33 fumarate hydratase deficiency 10.3 HIF1A VHL
34 pancreatic neuroendocrine tumor 10.3
35 extra-adrenal pheochromocytoma 10.2 PNMT SDHB SDHC SDHD
36 intravascular papillary endothelial hyperplasia 10.2 HIF1A VEGFA
37 epithelioid malignant peripheral nerve sheath tumor 10.2 CHGA NF1
38 persistent generalized lymphadenopathy 10.2 RET SDHB SDHC SDHD
39 hemangioma 10.2
40 retinitis 10.2
41 endotheliitis 10.2
42 retinal hemangioblastoma 10.1 HIF1A VEGFA VHL
43 male reproductive organ cancer 10.1 CCND1 CHGA VEGFA
44 acute mountain sickness 10.1 HIF1A VEGFA VHL
45 glucagonoma 10.1 CHGA CHGB
46 cell type cancer 10.1 CCND1 CHGA VEGFA
47 hyperparathyroidism 2 with jaw tumors 10.1 CCND1 MEN1 RET
48 hereditary paraganglioma-pheochromocytoma syndromes 10.1 RET SDHB SDHC SDHD VHL
49 adrenal medulla cancer 10.0 PNMT RET SDHB SDHC SDHD
50 thyroid carcinoma, familial medullary 10.0 CHGA MEN1 RET

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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Symptoms via clinical synopsis from OMIM:

53
Head And Neck Ears:
vertigo
tinnitus
endolymphatic sac tumors (elsts)
hearing loss, sensorineural, associated with elsts

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

Neurologic Central Nervous System:
cerebellar hemangioblastoma

Respiratory Lung:
pulmonary hemangiomas

Abdomen Pancreas:
multiple pancreatic cysts
pancreatic hemangioblastoma

Endocrine Features:
hypertension
adrenal hemangiomas

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

Human phenotypes related to Von Hippel-Lindau Syndrome:

55 31 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 55 31 frequent (33%) Frequent (79-30%) HP:0001251
2 nausea and vomiting 55 31 frequent (33%) Frequent (79-30%) HP:0002017
3 hydrocephalus 55 31 frequent (33%) Frequent (79-30%) HP:0000238
4 nystagmus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000639
5 hypertension 55 31 occasional (7.5%) Occasional (29-5%) HP:0000822
6 hyperhidrosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000975
7 gait disturbance 55 31 frequent (33%) Frequent (79-30%) HP:0001288
8 neurological speech impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0002167
9 cataract 55 31 occasional (7.5%) Occasional (29-5%) HP:0000518
10 increased intracranial pressure 55 31 occasional (7.5%) Occasional (29-5%) HP:0002516
11 sensorineural hearing impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000407
12 visual impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000505
13 arrhythmia 55 31 occasional (7.5%) Occasional (29-5%) HP:0011675
14 sensory neuropathy 55 31 frequent (33%) Frequent (79-30%) HP:0000763
15 hemiplegia/hemiparesis 55 31 frequent (33%) Frequent (79-30%) HP:0004374
16 arteriovenous malformation 55 31 hallmark (90%) Very frequent (99-80%) HP:0100026
17 migraine 55 31 frequent (33%) Frequent (79-30%) HP:0002076
18 aplasia/hypoplasia of the cerebellum 55 31 hallmark (90%) Very frequent (99-80%) HP:0007360
19 abnormality of the retinal vasculature 55 31 hallmark (90%) Very frequent (99-80%) HP:0008046
20 telangiectasia of the skin 55 31 frequent (33%) Frequent (79-30%) HP:0100585
21 multicystic kidney dysplasia 55 31 frequent (33%) Frequent (79-30%) HP:0000003
22 polycystic kidney dysplasia 55 31 frequent (33%) Frequent (79-30%) HP:0000113
23 glaucoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0000501
24 retinal detachment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000541
25 visual loss 55 31 occasional (7.5%) Occasional (29-5%) HP:0000572
26 pancreatic cysts 55 31 hallmark (90%) Very frequent (99-80%) HP:0001737
27 pheochromocytoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0002666
28 capillary hemangiomas 55 31 frequent (33%) Frequent (79-30%) HP:0005306
29 multiple renal cysts 55 31 occasional (7.5%) Occasional (29-5%) HP:0005562
30 renal cell carcinoma 55 31 hallmark (90%) Very frequent (99-80%) HP:0005584
31 retinal capillary hemangioma 55 31 hallmark (90%) Very frequent (99-80%) HP:0009711
32 papillary cystadenoma of the epididymis 55 31 frequent (33%) Frequent (79-30%) HP:0009715
33 abnormality of the cerebral vasculature 55 31 hallmark (90%) Very frequent (99-80%) HP:0100659
34 visceral angiomatosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0100761
35 abnormality of the lymphatic system 55 31 occasional (7.5%) Occasional (29-5%) HP:0100763
36 neoplasm of the middle ear 55 31 occasional (7.5%) Occasional (29-5%) HP:0100799
37 vertigo 31 HP:0002321
38 hearing impairment 55 Occasional (29-5%)
39 neoplasm 55 Occasional (29-5%)
40 abnormality of the kidney 55 Frequent (79-30%)
41 abnormality of the pancreas 55 Occasional (29-5%)
42 neuroendocrine neoplasm 55 Occasional (29-5%)
43 vascular neoplasm 55 Very frequent (99-80%)
44 tinnitus 31 HP:0000360
45 neoplasm of the pancreas 31 HP:0002894
46 abnormality of the liver 31 HP:0001392
47 polycythemia 31 HP:0001901
48 paraganglioma 31 HP:0002668
49 epididymal cyst 31 HP:0030424
50 cerebellar hemangioblastoma 31 HP:0006880

UMLS symptoms related to Von Hippel-Lindau Syndrome:


vertigo, tinnitus

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased sensitivity to paclitaxel GR00112-A-0 8.62 VHL NF1

MGI Mouse Phenotypes related to Von Hippel-Lindau Syndrome:

43 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.34 CCND1 INHA CHGA MEN1 HIF1A SDHB
2 homeostasis/metabolism MP:0005376 10.31 CCND1 INHA CHGA MEN1 CHGB HIF1A
3 endocrine/exocrine gland MP:0005379 10.29 CCND1 INHA CHGA MEN1 CHGB HIF1A
4 growth/size/body region MP:0005378 10.23 HIF1A CCND1 INHA CHGA MEN1 NF1
5 hematopoietic system MP:0005397 10.17 CCND1 INHA HIF1A NF1 SDHB SDHC
6 digestive/alimentary MP:0005381 10.16 CCND1 INHA MEN1 HIF1A NF1 NPY
7 mortality/aging MP:0010768 10.13 CCND1 INHA CHGA MEN1 HIF1A NF1
8 embryo MP:0005380 10.1 HIF1A MEN1 NF1 SDHD RET VHL
9 neoplasm MP:0002006 10 INHA MEN1 HIF1A NF1 CCND1 SDHB
10 liver/biliary system MP:0005370 9.97 INHA MEN1 HIF1A NF1 NPY TSC2
11 nervous system MP:0003631 9.85 HIF1A CCND1 CHGB MEN1 RET NF1
12 normal MP:0002873 9.73 CCND1 INHA HIF1A NF1 SDHB NPY
13 renal/urinary system MP:0005367 9.28 CHGA HIF1A NF1 SDHB NPY RET
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 all 49)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Everolimus Approved Phase 3 159351-69-6 6442177
2
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
3
Sirolimus Approved, Investigational Phase 3 53123-88-9 46835353 6436030 5284616
4 Endothelial Growth Factors Phase 3,Phase 2
5 Mitogens Phase 3,Phase 2
6 Anti-Bacterial Agents Phase 3
7 Antibiotics, Antitubercular Phase 3
8 Antifungal Agents Phase 3
9 Anti-Infective Agents Phase 3
10 Immunosuppressive Agents Phase 3
11 tyrosine Nutraceutical Phase 3
12
Sunitinib Approved, Investigational Phase 2,Phase 1 341031-54-7, 557795-19-4 5329102
13
Ranibizumab Approved Phase 1, Phase 2 347396-82-1 459903
14
Somatostatin Approved, Investigational Phase 2 38916-34-6, 51110-01-1 53481605
15
Pancrelipase Approved, Investigational Phase 2 53608-75-6
16
Vatalanib Investigational Phase 2 212141-54-3 151194
17 Fluorodeoxyglucose F18 Phase 2
18 Radiopharmaceuticals Phase 2
19 Angiogenesis Inhibitors Phase 2,Phase 1,Early Phase 1
20 Angiogenesis Modulating Agents Phase 2,Phase 1,Early Phase 1
21 Protein Kinase Inhibitors Phase 2
22 Pharmaceutical Solutions Phase 1, Phase 2
23 pancreatin Phase 2
24 Adjuvants, Immunologic Phase 2
25 Freund's Adjuvant Phase 2
26 Vaccines Phase 2
27 histidine Nutraceutical Phase 1, Phase 2
28
Bevacizumab Approved, Investigational Phase 1,Early Phase 1 216974-75-3
29
Vorinostat Approved, Investigational Phase 1 149647-78-9 5311
30 Antibodies Phase 1
31 Antibodies, Monoclonal Phase 1
32 Immunoglobulins Phase 1
33 Histone Deacetylase Inhibitors Phase 1
34
Sorafenib Approved, Investigational 284461-73-0 216239 406563
35
Epinephrine Approved, Vet_approved 51-43-4 5816
36
Norepinephrine Approved 51-41-2 439260
37 Racepinephrine Approved 329-65-7
38
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
39
Niacin Approved, Investigational, Nutraceutical 59-67-6 938
40
Nicotinamide Approved, Investigational, Nutraceutical 98-92-0 936
41 Micronutrients
42 Nicotinic Acids
43 Trace Elements
44 Vitamin B Complex
45 Vitamins
46 Epinephryl borate
47 Folate Nutraceutical
48 Vitamin B3 Nutraceutical
49 Vitamin B9 Nutraceutical

Interventional clinical trials:

(show all 39)

# Name Status NCT ID Phase Drugs
1 Use of Tracking Devices to Locate Abnormalities During Invasive Procedures Recruiting NCT00102544 Phase 3
2 A Study of Cabozantinib (XL184) vs Everolimus in Subjects With Metastatic Renal Cell Carcinoma Active, not recruiting NCT01865747 Phase 3 Cabozantinib tablets;Everolimus (Afinitor) tablets
3 17AAG to Treat Kidney Tumors in Von Hippel-Lindau Disease Completed NCT00088374 Phase 2 17 allylamino-17-demethoxygeldanamycin;18 FDG (Fludeoxyglucose 18F);[15-O] H2O;EPL diluent
4 Study of Sunitinib in Patients With Von Hippel-Lindau (VHL) Disease Completed NCT01168440 Phase 2 Sunitinib
5 Treatment of Von Hippel-Lindau (VHL)-Related Hemangioblastoma With PTK787/ZK 222584 Completed NCT00052013 Phase 2 PTK787/ZK 222584
6 Phase II Study of Vandetanib in Individuals With Kidney Cancer Completed NCT00566995 Phase 2 ZACTIMA (Vandetanib) (ZD6474)
7 Metabolic Mapping to Measure Retinal Metabolism Completed NCT00385333 Phase 2
8 pazopanib_NCRCC,Ph2 STUDY Completed NCT01538238 Phase 2 pazopanib
9 Treatment of Exudative and Vasogenic Chorioretinal Diseases Including Variants of AMD and Other CNV Related Maculopathy Completed NCT00470977 Phase 1, Phase 2 ranibizumab injection (0.5 mg)
10 A Phase 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 Recruiting NCT02859441 Phase 1, Phase 2 Ranibizumab;E10030
11 Pazopanib in Von Hippel-Lindau (VHL) Syndrome Active, not recruiting NCT01436227 Phase 2 Pazopanib
12 PT2385 for the Treatment of Von Hippel-Lindau Disease-Associated Clear Cell Renal Cell Carcinoma Active, not recruiting NCT03108066 Phase 2 PT2385 Tablets
13 Evaluation of 68Gallium-DOTATATE PET/CT for Detecting Neuroendocrine Tumors Active, not recruiting NCT01967537 Phase 2 68Gallium DOTATATE
14 A Phase 2 Study of PT2977 for the Treatment of Von Hippel Lindau Disease-Associated Renal Cell Carcinoma Not yet recruiting NCT03401788 Phase 2 PT2977
15 Sunitinib Malate to Treat Advanced Eye Disease in Patients With Von Hippel-Lindau Syndrome Terminated NCT00673816 Phase 1, Phase 2 Sunitinib Malate
16 Evaluation of Sunitinib Malate in Patients With Von Hippel-Lindau Syndrome (VHL) Who Have VHL Lesions to Follow Terminated NCT00330564 Phase 2 SU011248
17 TKI 258 in Von Hippel-Lindau Syndrome (VHL) Terminated NCT01266070 Phase 2 Dovitinib
18 Vaccine Therapy With Tumor Specific Mutated VHL Peptides in Adult Cancer Patients With Renal Cell Carcinoma Terminated NCT00001703 Phase 2
19 Vandetanib to Treat Advanced Kidney Cancer Terminated NCT01372813 Phase 2 vandetanib
20 Imaging Studies of Kidney Cancer Using 18F-VM4-037 Terminated NCT01712685 Phase 2 18F-VM4-037
21 Ranibizumab Injections to Treat Retinal Tumors in Patients With Von Hippel-Lindau Syndrome Completed NCT00089765 Phase 1 Ranibizumab
22 EYE001 to Treat Retinal Tumors in Patients With Von Hippel-Lindau Syndrome Completed NCT00056199 Phase 1 EYE001
23 Effect of Vorinostat on Nervous System Hemangioblastomas in Von Hippel-Lindau Disease (Missense Mutation Only) Enrolling by invitation NCT02108002 Phase 1 Vorinostat
24 Assessment of Residual VHL Function in Tumors - Can it Predict the Patients' Individual Course of Disease? Unknown status NCT02207686
25 Psychosocial Consequences of the Screening of Von Hippel Lindau Diseases for Patients Operated for a hémangioblastoma of Nervous Centrasl System Unknown status NCT02120040
26 Genetic Study to Identify Gene Mutations in Participants Previously Enrolled in Clinical Trial NCI-99-C-0053 Who Have Von Hippel-Lindau Syndrome or Are at Risk for Von Hippel-Lindau Syndrome Completed NCT00075348
27 Visualizing Vascular Endothelial Growth Factor (VEGF) Producing Lesions in Von Hippel-Lindau Disease Completed NCT00970970
28 Natural History and Management of Pancreatic Lesions in Von Hippel-Lindau Disease Completed NCT00062166
29 Endolymphatic Sac Tumors in a Population of Patients With Von Hippel-Lindau Disease:The Natural History and Pathobiology, and a Prospective Non-Randomized Clinical Trial of Hearing Preservation Surgery in Patients With Early Stage Endolymphatic Sac Tumors Completed NCT00001668
30 Effect of Sorafenib on ccRCC Uptake of Radiolabeled Bevacizumab or cG250 Completed NCT00602862 Sorafenib;111Indium-bevacizumab;111Indium-cG250
31 Screening for Endolymphatic Sac Tumours (ELSTs) in Von Hippel-Lindau (vHL) Patients Recruiting NCT02420067
32 National Eye Institute Biorepository for Retinal Diseases Recruiting NCT01496625
33 Clinical Manifestations and Molecular Bases of Heritable Urologic Malignant Disorders Recruiting NCT00001238
34 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
35 Diagnosis of Pheochromocytoma Recruiting NCT00004847
36 Von Hippel-Lindau Disease Genetic Epidemiology Study Active, not recruiting NCT00001803
37 Study of Brain and Spinal Cord Tumor Growth and Cyst Development in Patients With Von Hippel Lindau Disease Active, not recruiting NCT00005902
38 Ruxolitinib for Chuvash Polycythemia Available NCT01730755 Ruxolitinib
39 Bevacizumab (Avastin) in Unresectable/Recurrent Hemangioblastoma From Von-Hippel-Lindau Disease Terminated NCT01015300 Early Phase 1 Avastin

Search NIH Clinical Center for Von Hippel-Lindau Syndrome

Cochrane evidence based reviews: von hippel-lindau disease

Sources

Genetic Tests for Von Hippel-Lindau Syndrome

About this section

Genetic tests related to Von Hippel-Lindau Syndrome:

# Genetic test Affiliating Genes
1 Von Hippel-Lindau Syndrome 28 CCND1 VHL
2 Von Hippel-Lindau 28
Sources

Anatomical Context for Von Hippel-Lindau Syndrome

About this section

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

38
Kidney, Spinal Cord, Pancreas, Brain, Retina, Adrenal Gland, Eye
Sources

Publications for Von Hippel-Lindau Syndrome

About this section

Articles related to Von Hippel-Lindau Syndrome:

(show top 50) (show all 691)
# Title Authors Year
1
Evidence for genetic anticipation in von Hippel-Lindau syndrome. ( 29437867 )
2018
2
Cystadenoma of the Rete Testis in a Patient With von Hippel-Lindau Disease. ( 28499761 )
2017
3
Treatment of multiple synchronous misdiagnosed renal cell cancers in a young patient affected by a "de novo" Von Hippel-Lindau syndrome. ( 28256701 )
2017
4
Renal Cell Carcinoma and a Pancreatic Neuroendocrine Tumor: A Coincidence or Instance of Von Hippel-Lindau Disease? ( 28794363 )
2017
5
Bilateral quadratus lumborum block for postoperative analgesia in a Von Hippel-Lindau syndrome patient undergoing laparoscopic radical nephrectomy. ( 29033750 )
2017
6
Pancreatic neuroendocrine tumor with complete replacement of the pancreas by serous cystic neoplasms in a patient with von Hippel-Lindau disease: a case report. ( 28948530 )
2017
7
Endolymphatic Sac Tumor in von Hippel-Lindau Disease: A Rare Case Report. ( 29204213 )
2017
8
Perioperative outcomes of syndromic paraganglioma and pheochromocytoma resection in patients with von Hippel-Lindau disease, multiple endocrine neoplasia type 2, or neurofibromatosis type 1. ( 28919049 )
2017
9
Retinal hemangioblastoma: prevalence, incidence and frequency of underlying von Hippel-Lindau disease. ( 28972023 )
2017
10
A Review of Von Hippel-Lindau Syndrome. ( 28785532 )
2017
11
Von Hippel Lindau Syndrome ( 29083737 )
2017
12
Molecular-genetic diagnostics of von Hippel-Lindau syndrome (VHL) in Bulgaria: first complex mutation event in the VHL gene. ( 28849724 )
2017
13
Retinal Hemangioblastoma and Syrinx in von Hippel-Lindau Disease. ( 28225727 )
2017
14
A Family with Von Hippel-Lindau Syndrome: The Findings of Indium-111 Somatostatin Receptor Scintigraphy, Iodine-123 Metaiodobenzylguanidine Scintigraphy and Single Photon Emission Computerized Tomography. ( 28291009 )
2017
15
Management of uncommon disorders in pregnancy: Von Hippel-Lindau disease, Gitelman syndrome, and Nutcracker syndrome. ( 29051782 )
2017
16
Single-stage laparoscopic adrenalectomy for pheochromocytoma and enucleation of a pancreatic neuroendocrine tumor in Von Hippel-Lindau disease: A case report. ( 28515932 )
2017
17
Radiofrequency Ablation for Renal Cancer in Von Hippel-Lindau Syndrome Patients: A Prospective Cohort Analysis. ( 28866246 )
2017
18
Recurrent Pheochromocytomas in a Child with Familial von Hippel-Lindau Syndrome. ( 27130508 )
2016
19
Freiburg Neuropathology Case Conference : Petrosal mass lesion in a patient with von Hippel-Lindau syndrome. ( 27286949 )
2016
20
Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-I+ binding site missense mutations elevate age-specific risk for CNS hemangioblastoma. ( 27439424 )
2016
21
Endolymphatic sac tumor in association with von Hippel-Lindau syndrome. ( 26991214 )
2016
22
18F-FDG and 68Ga-DOTATATE PET/CT in von Hippel-Lindau Disease-Associated Retinal Hemangioblastoma. ( 28033220 )
2016
23
Attainment of a Long-term Favorable Outcome by Sunitinib Treatment for Pancreatic Neuroendocrine Tumor and Renal Cell Carcinoma Associated with von Hippel-Lindau Disease. ( 26984080 )
2016
24
VHL Germline Mutations in Argentinian Patients with Clinical Diagnoses or Single Typical Manifestations of Type 1 von Hippel-Lindau Disease. ( 27617348 )
2016
25
Surgical treatment of sporadic and von Hippel-Lindau syndrome-associated intramedullary hemangioblastomas. ( 27591060 )
2016
26
Suprasellar Hemangioblastoma Unrelated to von Hippel-Lindau Disease Successfully Treated through Extended Transsphenoidal Approach: Diagnostic Value of Von Hippel-Lindau Disease Gene-Derived Protein. ( 27123746 )
2016
27
Parallel Regulation of von Hippel-Lindau Disease by pVHL-Mediated Degradation of B-Myb and Hypoxia-Inducible Factor I+. ( 27090638 )
2016
28
VITREORETINAL SURGERY FOR PATIENTS WITH SEVERE EXUDATIVE AND PROLIFERATIVE MANIFESTATIONS OF RETINAL CAPILLARY HEMANGIOBLASTOMA BECAUSE OF VON HIPPEL-LINDAU DISEASE. ( 27533771 )
2016
29
Spontaneous Devascularization and Detachment of Optic Nerve Hemangioblastoma in a Patient With Von Hippel-Lindau Disease. ( 27608053 )
2016
30
Supratentorial haemangioblastoma without von Hippel-Lindau syndrome in an adult: A rare tumor with review of literature. ( 26889272 )
2016
31
Management of pancreatic gastrinoma associated with Von Hippel-Lindau disease: a case report. ( 27055912 )
2016
32
Manifestations of Von Hippel Lindau syndrome: a retrospective national review. ( 27284160 )
2016
33
Bulbar dysfunction and aspiration pneumonia due to a brainstem haemangioblastoma: an unusual complication of von Hippel-Lindau disease. ( 27737868 )
2016
34
Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome. ( 27527340 )
2016
35
Craniotomy for cerebellar hemangioblastoma excision in a patient with von Hippel-Lindau disease complicated by uncontrolled hypertension due to pheochromocytoma. ( 26595895 )
2015
36
Biological and clinical impact of hemangioblastoma-associated peritumoral cysts in von Hippel-Lindau disease. ( 26517769 )
2015
37
Endocrine manifestations of von Hippel-Lindau disease. ( 25611110 )
2015
38
Renal cell carcinoma to haemangioblastoma metastasis: a rare manifestation of Von Hippel-Lindau syndrome. ( 25088480 )
2015
39
Recurrent lobular capillary hemangiomas in a patient with neurofibromatosis type 1 (NF1) and von Hippel-Lindau syndrome (VHL). ( 27051783 )
2015
40
Dr. Arvid Lindau and discovery of von Hippel-Lindau disease. ( 25748307 )
2015
41
Pancreatic neuroendocrine tumors in von Hippel-Lindau disease. ( 25731071 )
2015
42
Targeted therapy for genetic cancer syndromes: Von Hippel-Lindau disease, Cowden syndrome, and Proteus syndrome. ( 25725225 )
2015
43
Tumor growth in von Hippel Lindau syndrome: in reply to Qazi and colleagues. ( 25700902 )
2015
44
A Case of von Hippel-Lindau Disease with Colorectal Adenocarcinoma, Renal Cell Carcinoma and Hemangioblastomas. ( 25715769 )
2015
45
Clinical and genetic investigation of a multi-generational Chinese family afflicted with Von Hippel-Lindau disease. ( 25563310 )
2015
46
Medullary hemangioblastoma in a child with von Hippel-Lindau disease: vascular tumor perfusion depicted by arterial spin labeling and dynamic contrast-enhanced imaging. ( 25885801 )
2015
47
Intracranial pressure monitoring and caesarean section in a patient with von Hippel-Lindau disease and symptomatic cerebellar haemangioblastomas. ( 25499015 )
2015
48
Von Hippel-Lindau Syndrome. ( 26279462 )
2015
49
A novel mutation links to von Hippel-Lindau syndrome in a Chinese family with hemangioblastoma. ( 25966224 )
2015
50
Metastatic phaeochromocytoma in a 23-year-old woman with an unclassified variant in the von Hippel Lindau disease gene: how can the pathogenicity of this variant be determined? ( 25557216 )
2015
Sources

Variations for Von Hippel-Lindau Syndrome

About this section

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

71 (show top 50) (show all 104)
# Symbol AA change Variation ID SNP ID
1 VHL p.Ser38Pro VAR_005670
2 VHL p.Glu52Lys VAR_005671 rs373068386
3 VHL p.Ser65Leu VAR_005672 rs5030826
4 VHL p.Ser65Trp VAR_005673 rs5030826
5 VHL p.Ser68Trp VAR_005675
6 VHL p.Glu70Lys VAR_005676 rs5030802
7 VHL p.Val74Gly VAR_005677 rs5030803
8 VHL p.Phe76Ile VAR_005679
9 VHL p.Phe76Leu VAR_005680
10 VHL p.Phe76Ser VAR_005681 rs730882033
11 VHL p.Asn78His VAR_005682
12 VHL p.Asn78Ser VAR_005683 rs5030804
13 VHL p.Asn78Thr VAR_005684 rs5030804
14 VHL p.Arg79Pro VAR_005685
15 VHL p.Ser80Ile VAR_005686 rs5030805
16 VHL p.Ser80Arg VAR_005687
17 VHL p.Ser80Asn VAR_005688 rs5030805
18 VHL p.Pro81Ser VAR_005689 rs104893829
19 VHL p.Arg82Pro VAR_005690 rs794726890
20 VHL p.Val84Leu VAR_005692 rs5030827
21 VHL p.Pro86Ala VAR_005693 rs398123481
22 VHL p.Pro86Leu VAR_005694 rs730882034
23 VHL p.Pro86Arg VAR_005695 rs730882034
24 VHL p.Pro86Ser VAR_005696 rs398123481
25 VHL p.Trp88Arg VAR_005697
26 VHL p.Trp88Ser VAR_005698 rs119103277
27 VHL p.Leu89Pro VAR_005700 rs5030807
28 VHL p.Gly93Cys VAR_005703 rs5030808
29 VHL p.Gly93Asp VAR_005704
30 VHL p.Gly93Ser VAR_005705 rs5030808
31 VHL p.Gln96Pro VAR_005706
32 VHL p.Tyr98His VAR_005707 rs5030809
33 VHL p.Leu101Gly VAR_005708
34 VHL p.Leu101Arg VAR_005709
35 VHL p.Thr105Pro VAR_005711
36 VHL p.Arg107Pro VAR_005713 rs193922609
37 VHL p.Ser111Cys VAR_005714
38 VHL p.Ser111Asn VAR_005715 rs869025631
39 VHL p.Ser111Arg VAR_005716 rs765978945
40 VHL p.Tyr112His VAR_005717 rs104893824
41 VHL p.Gly114Cys VAR_005718
42 VHL p.Gly114Arg VAR_005719 rs869025636
43 VHL p.Gly114Ser VAR_005720
44 VHL p.His115Tyr VAR_005722 rs5030811
45 VHL p.His115Gln VAR_005723
46 VHL p.Leu116Val VAR_005724
47 VHL p.Trp117Cys VAR_005725 rs727504215
48 VHL p.Leu118Pro VAR_005726 rs5030830
49 VHL p.Leu118Arg VAR_005727
50 VHL p.Phe119Leu VAR_005728

ClinVar genetic disease variations for Von Hippel-Lindau Syndrome:

6 (show top 50) (show all 129)
# Gene Variation Type Significance SNP ID Assembly Location
1 VHL NM_000551.3(VHL): c.242C> T (p.Pro81Leu) single nucleotide variant Likely pathogenic rs193922608 GRCh37 Chromosome 3, 10183773: 10183773
2 VHL NM_000551.3(VHL): c.320G> C (p.Arg107Pro) single nucleotide variant Pathogenic/Likely pathogenic rs193922609 GRCh37 Chromosome 3, 10183851: 10183851
3 VHL NM_000551.3(VHL): c.371C> T (p.Thr124Ile) single nucleotide variant Likely pathogenic rs193922610 GRCh37 Chromosome 3, 10188228: 10188228
4 VHL NM_000551.3(VHL): c.458T> A (p.Leu153Gln) single nucleotide variant Likely pathogenic rs193922611 GRCh37 Chromosome 3, 10188315: 10188315
5 VHL p.X214Trp single nucleotide variant Likely pathogenic
6 VHL NM_000551.3(VHL): c.194C> G (p.Ser65Trp) single nucleotide variant Pathogenic rs5030826 GRCh37 Chromosome 3, 10183725: 10183725
7 VHL NM_000551.3(VHL): c.208G> A (p.Glu70Lys) single nucleotide variant Pathogenic/Likely pathogenic rs5030802 GRCh37 Chromosome 3, 10183739: 10183739
8 VHL NM_000551.3(VHL): c.319C> G (p.Arg107Gly) single nucleotide variant Pathogenic rs397516440 GRCh37 Chromosome 3, 10183850: 10183850
9 VHL NM_000551.3(VHL): c.467A> G (p.Tyr156Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397516441 GRCh37 Chromosome 3, 10191474: 10191474
10 VHL NM_000551.3(VHL): c.408delT (p.Phe136Leufs) deletion Pathogenic rs397516442 GRCh37 Chromosome 3, 10188265: 10188265
11 VHL NM_000551.3(VHL): c.463+2T> G single nucleotide variant Likely pathogenic rs5030814 GRCh37 Chromosome 3, 10188322: 10188322
12 VHL NM_000551.3(VHL): c.464-1G> A single nucleotide variant Pathogenic rs5030817 GRCh37 Chromosome 3, 10191470: 10191470
13 VHL NM_000551.3(VHL): c.485G> T (p.Cys162Phe) single nucleotide variant Pathogenic rs397516444 GRCh37 Chromosome 3, 10191492: 10191492
14 VHL NM_000551.3(VHL): c.497T> C (p.Val166Ala) single nucleotide variant Pathogenic rs397516445 GRCh37 Chromosome 3, 10191504: 10191504
15 VHL NM_000551.3(VHL): c.233A> G (p.Asn78Ser) single nucleotide variant Pathogenic rs5030804 GRCh37 Chromosome 3, 10183764: 10183764
16 VHL NM_000551.3(VHL): c.256C> G (p.Pro86Ala) single nucleotide variant Pathogenic/Likely pathogenic rs398123481 GRCh37 Chromosome 3, 10183787: 10183787
17 VHL NM_000551.3(VHL): c.326T> A (p.Ile109Asn) single nucleotide variant Likely pathogenic rs398123482 GRCh37 Chromosome 3, 10183857: 10183857
18 VHL NM_000551.3(VHL): c.501_502insTTGTCCGT (p.Ser168Leufs) insertion Pathogenic rs398123483 GRCh37 Chromosome 3, 10191508: 10191509
19 VHL NM_000551.3(VHL): c.445G> T (p.Ala149Ser) single nucleotide variant Pathogenic rs587780077 GRCh37 Chromosome 3, 10188302: 10188302
20 VHL NC_000003.12: g.(?_10149787)_(10149965_?)del deletion Pathogenic GRCh37 Chromosome 3, 10191471: 10191649
21 VHL NM_000551.3(VHL): c.256C> T (p.Pro86Ser) single nucleotide variant Pathogenic/Likely pathogenic rs398123481 GRCh37 Chromosome 3, 10183787: 10183787
22 VHL NM_000551.3(VHL): c.-75_-55del21 deletion Likely pathogenic rs727503744 GRCh38 Chromosome 3, 10141773: 10141793
23 VHL NM_000551.3(VHL): c.351G> T (p.Trp117Cys) single nucleotide variant Pathogenic rs727504215 GRCh37 Chromosome 3, 10188208: 10188208
24 VHL NM_000551.3(VHL): c.194C> T (p.Ser65Leu) single nucleotide variant Pathogenic rs5030826 GRCh38 Chromosome 3, 10142041: 10142041
25 VHL NM_000551.3(VHL): c.257C> T (p.Pro86Leu) single nucleotide variant Pathogenic rs730882034 GRCh38 Chromosome 3, 10142104: 10142104
26 VHL NM_000551.3(VHL): c.263G> A (p.Trp88Ter) single nucleotide variant Pathogenic rs119103277 GRCh38 Chromosome 3, 10142110: 10142110
27 VHL NM_000551.3(VHL): c.266T> C (p.Leu89Pro) single nucleotide variant Pathogenic/Likely pathogenic rs5030807 GRCh38 Chromosome 3, 10142113: 10142113
28 VHL NM_000551.3(VHL): c.473T> C (p.Leu158Pro) single nucleotide variant Pathogenic rs121913346 GRCh38 Chromosome 3, 10149796: 10149796
29 VHL NM_000551.3(VHL): c.477delA (p.Glu160Serfs) deletion Pathogenic rs730882020 GRCh38 Chromosome 3, 10149800: 10149800
30 VHL NM_000551.3(VHL): c.482G> A (p.Arg161Gln) single nucleotide variant Pathogenic rs730882035 GRCh38 Chromosome 3, 10149805: 10149805
31 VHL NM_000551.3(VHL): c.525C> G (p.Tyr175Ter) single nucleotide variant Pathogenic rs5030835 GRCh38 Chromosome 3, 10149848: 10149848
32 VHL NM_000551.3(VHL): c.245G> C (p.Arg82Pro) single nucleotide variant Pathogenic rs794726890 GRCh37 Chromosome 3, 10183776: 10183776
33 VHL NM_000551.3(VHL): c.449delA (p.Asn150Ilefs) deletion Pathogenic rs794727253 GRCh37 Chromosome 3, 10188306: 10188306
34 VHL NM_000551.3(VHL): c.586A> T (p.Lys196Ter) single nucleotide variant Pathogenic rs281860296 GRCh37 Chromosome 3, 10191593: 10191593
35 VHL NM_000551.3(VHL): c.223_225delATC (p.Ile75del) deletion Pathogenic rs794729660 GRCh37 Chromosome 3, 10183754: 10183756
36 VHL NM_000551.3(VHL): c.548C> A (p.Ser183Ter) single nucleotide variant Pathogenic rs5030823 GRCh37 Chromosome 3, 10191555: 10191555
37 VHL NM_000551.3(VHL): c.500G> A (p.Arg167Gln) single nucleotide variant Pathogenic rs5030821 GRCh37 Chromosome 3, 10191507: 10191507
38 VHL NM_000551.3(VHL): c.481C> T (p.Arg161Ter) single nucleotide variant Pathogenic/Likely pathogenic rs5030818 GRCh37 Chromosome 3, 10191488: 10191488
39 VHL NM_000551.3(VHL): c.499C> T (p.Arg167Trp) single nucleotide variant Pathogenic/Likely pathogenic rs5030820 GRCh37 Chromosome 3, 10191506: 10191506
40 VHL NM_000551.3(VHL): c.499C> G (p.Arg167Gly) single nucleotide variant Pathogenic/Likely pathogenic rs5030820 GRCh37 Chromosome 3, 10191506: 10191506
41 VHL NM_000551.3(VHL): c.263G> C (p.Trp88Ser) single nucleotide variant Pathogenic rs119103277 GRCh37 Chromosome 3, 10183794: 10183794
42 VHL NM_000551.3(VHL): c.334T> C (p.Tyr112His) single nucleotide variant Pathogenic rs104893824 GRCh37 Chromosome 3, 10183865: 10183865
43 VHL NM_000551.3(VHL): c.292T> C (p.Tyr98His) single nucleotide variant Pathogenic rs5030809 GRCh37 Chromosome 3, 10183823: 10183823
44 VHL NM_000551.3(VHL): c.496G> T (p.Val166Phe) single nucleotide variant Pathogenic rs104893825 GRCh37 Chromosome 3, 10191503: 10191503
45 VHL NM_000551.3(VHL): c.191G> C (p.Arg64Pro) single nucleotide variant Pathogenic/Likely pathogenic rs104893826 GRCh37 Chromosome 3, 10183722: 10183722
46 VHL NM_000551.3(VHL): c.334T> A (p.Tyr112Asn) single nucleotide variant Pathogenic rs104893824 GRCh37 Chromosome 3, 10183865: 10183865
47 VHL NM_000551.3(VHL): c.388G> C (p.Val130Leu) single nucleotide variant Pathogenic rs104893830 GRCh37 Chromosome 3, 10188245: 10188245
48 VHL NM_000551.3(VHL): c.250G> T (p.Val84Leu) single nucleotide variant Pathogenic rs5030827 GRCh37 Chromosome 3, 10183781: 10183781
49 VHL NM_000551.3(VHL): c.277G> A (p.Gly93Ser) single nucleotide variant Pathogenic rs5030808 GRCh37 Chromosome 3, 10183808: 10183808
50 VHL NM_000551.3(VHL): c.491A> G (p.Gln164Arg) single nucleotide variant Pathogenic rs267607170 GRCh37 Chromosome 3, 10191498: 10191498

Cosmic variations for Von Hippel-Lindau Syndrome:

9 (show top 50) (show all 1156)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)		 Mutation CDS Mutation AA Conf
1 COSM236660 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.250G>C p.V84L 12
2 COSM144975 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.475A>G p.K159E 12
3 COSM14283 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.491A>G p.Q164R 12
4 COSM6444479 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.260T>C p.V87A 12
5 COSM100047 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.389T>G p.V130G 12
6 COSM966 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.1900T>C p.C634R 12
7 COSM965 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.2753T>C p.M918T 12
8 COSM1710108 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7300C>T p.Q2434* 12
9 COSM330588 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.2409+1G>A p.A776_Q803del 12
10 COSM330587 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.205-1G>C p.R69fs*7 12
11 COSM220089 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1885G>A p.Q616fs*4 12
12 COSM329092 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1721+3A>T p.A548fs*13 12
13 COSM30670 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7646C>G p.S2549* 12
14 COSM329090 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.226G>T p.E76* 12
15 COSM5885098 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.5665G>T p.E1889* 12
16 COSM329093 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1722-1G>A p.? 12
17 COSM329089 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1466A>G p.Y489C 12
18 COSM327926 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.3158C>A p.S1053* 12
19 COSM327927 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7582C>T p.Q2528* 12
20 COSM33676 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.6855C>A p.Y2285* 12
21 COSM5946188 MET adrenal gland,adrenal gland,pheochromocytoma,benign c.352A>T p.M118L 12
22 COSM707 MET adrenal gland,adrenal gland,pheochromocytoma,benign c.3029C>T p.T1010I 12
23 COSM5967149 MET adrenal gland,adrenal gland,pheochromocytoma,benign c.607T>A p.S203T 12
24 COSM499 HRAS adrenal gland,adrenal gland,pheochromocytoma,benign c.182A>G p.Q61R 12
25 COSM496 HRAS adrenal gland,adrenal gland,pheochromocytoma,benign c.181C>A p.Q61K 12
26 COSM486 HRAS adrenal gland,adrenal gland,pheochromocytoma,benign c.37G>C p.G13R 12
27 COSM1732355 H3F3A adrenal gland,adrenal gland,pheochromocytoma,benign c.103G>T p.G35W 12
28 COSM19176 FGFR1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1638C>A p.N546K 12
29 COSM6188660 EPAS1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1592C>T p.P531L 12
30 COSM6196778 EPAS1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1104G>A p.M368I 12
31 COSM6196613 EPAS1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1589C>A p.A530E 12
32 COSM6188649 EPAS1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1595A>G p.Y532C 12
33 COSM144972 VHL adrenal gland,NS,pheochromocytoma,benign c.245G>T p.R82L 10
34 COSM144971 VHL adrenal gland,NS,pheochromocytoma,benign c.244C>G p.R82G 10
35 COSM3402726 NF1 adrenal gland,NS,pheochromocytoma,benign c.1307C>A p.S436* 10
36 COSM6476262 EPAS1 adrenal gland,NS,pheochromocytoma,benign c.1601C>T p.P534L 10
37 COSM17666 VHL adrenal gland,adrenal gland,pheochromocytoma,malignant c.593T>C p.L198P 9
38 COSM5885100 VHL adrenal gland,adrenal gland,pheochromocytoma,malignant c.250G>A p.V84M 9
39 COSM27269 UMPS kidney,NS,carcinoma,renal cell c.528G>A p.L176L 9
40 COSM30474 TRIO kidney,NS,carcinoma,renal cell c.9008A>G p.N3003S 9
41 COSM26594 RNF144A kidney,NS,carcinoma,renal cell c.410C>T p.A137V 9
42 COSM26987 RGS7 kidney,NS,carcinoma,renal cell c.169T>C p.F57L 9
43 COSM26614 RABGAP1 kidney,NS,carcinoma,renal cell c.1533T>A p.H511Q 9
44 COSM30530 PTPN22 kidney,NS,carcinoma,renal cell c.209G>C p.R70P 9
45 COSM329087 NF1 adrenal gland,adrenal gland,pheochromocytoma,malignant c.4558C>T p.Q1520* 9
46 COSM24441 NF1 adrenal gland,adrenal gland,pheochromocytoma,malignant c.3721C>T p.R1241* 9
47 COSM27618 KMT2A kidney,NS,carcinoma,renal cell c.5711C>T p.A1904V 9
48 COSM30502 ITPR3 kidney,NS,carcinoma,renal cell c.4574G>T p.C1525F 9
49 COSM28415 DOCK1 kidney,NS,carcinoma,renal cell c.1306G>T p.D436Y 9
50 COSM30531 COPS4 kidney,NS,carcinoma,renal cell c.385G>C p.G129R 9

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

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

Expression for Von Hippel-Lindau Syndrome

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

Pathways for Von Hippel-Lindau Syndrome

About this section

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 19)
# Super pathways Score Top Affiliating Genes
1
Cellular Senescence (REACTOME) 62
Show member pathways
 12.94 CUL2 ELOB HIF1A TSC2 VEGFA VHL
2
Pathways in cancer 36
12.59 CCND1 CUL2 ELOB HIF1A RET VEGFA
3
ErbB signaling pathway 36 1
Show member pathways
 12.18 CCND1 CUL2 ELOB HIF1A VEGFA VHL
4
Integrated Breast Cancer Pathway 1
11.89 CCND1 NF1 TSC2 VEGFA
5
Thyroid hormone signaling pathway 36
11.82 CCND1 HIF1A TSC2
6
Interleukin-4 and 13 signaling 62
11.8 CCND1 HIF1A VEGFA
7
Glioblastoma Multiforme 60
11.78 CCND1 NF1 TSC2
8
Citrate cycle (TCA cycle) 36
Show member pathways
 11.73 SDHB SDHC SDHD
9
Signaling events mediated by VEGFR1 and VEGFR2 1
Show member pathways
 11.66 HIF1A VEGFA VHL
10
HIF-1 signaling pathway 36
11.55 CUL2 ELOB HIF1A VEGFA VHL
11
Transcription Ligand-dependent activation of the ESR1/SP pathway 21
Show member pathways
 11.5 CCND1 HIF1A VEGFA
12
Hepatitis C and Hepatocellular Carcinoma 1
11.34 CCND1 HIF1A VEGFA
13
Aryl Hydrocarbon Receptor 1
11.29 NF1 RET VEGFA
14
HIF1Alpha Pathway 60
11.09 CUL2 ELOB HIF1A VEGFA VHL
15
HIF-2-alpha transcription factor network 1
11.08 ELOB VEGFA VHL
16
Immune response_Oncostatin M signaling via JAK-Stat in human cells 21
10.86 CCND1 VEGFA
17
Amplification and Expansion of Oncogenic Pathways as Metastatic Traits 1
10.78 VEGFA VHL
18
miR-148a/miR-31/FIH1/HIF1andalpha;-Notch signaling in glioblastoma 1
10.45 HIF1A VEGFA
19
Hypoxic and oxygen homeostasis regulation of HIF-1-alpha 1
10.1 CUL2 ELOB HIF1A VHL
Sources

GO Terms for Von Hippel-Lindau Syndrome

About this section

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

# Name GO ID Score Top Affiliating Genes
1 secretory granule GO:0030141 9.5 CHGA CHGB VEGFA
2 Cul2-RING ubiquitin ligase complex GO:0031462 9.26 CUL2 ELOB
3 respiratory chain complex II GO:0045273 9.16 SDHB SDHC
4 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 9.13 SDHB SDHC SDHD
5 VCB complex GO:0030891 8.8 CUL2 ELOB VHL

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.85 CUL2 MEN1 NF1 TSC2 VHL
2 cerebral cortex development GO:0021987 9.67 HIF1A NF1 NPY
3 positive regulation of endothelial cell proliferation GO:0001938 9.65 HIF1A NF1 VEGFA
4 mammary gland alveolus development GO:0060749 9.54 CCND1 VEGFA
5 lactation GO:0007595 9.54 CCND1 HIF1A VEGFA
6 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0030949 9.52 HIF1A VEGFA
7 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.51 NF1 RET
8 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.43 SDHC SDHD
9 tricarboxylic acid cycle GO:0006099 9.43 SDHB SDHC SDHD
10 post-translational protein modification GO:0043687 9.43 CHGB CUL2 ELOB HIF1A MEN1 VHL
11 hemoglobin biosynthetic process GO:0042541 9.4 HIF1A INHA
12 camera-type eye morphogenesis GO:0048593 9.33 HIF1A NF1 VEGFA
13 positive regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061419 9.32 HIF1A VEGFA
14 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 9.02 CUL2 ELOB HIF1A VEGFA VHL

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

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.5 CHGB INHA NPY
2 electron transfer activity GO:0009055 9.43 SDHB SDHC SDHD
3 ubiquinone binding GO:0048039 9.16 SDHB SDHD
4 succinate dehydrogenase (ubiquinone) activity GO:0008177 8.96 SDHB SDHD
5 succinate dehydrogenase activity GO:0000104 8.62 SDHC SDHD
Sources

Sources for Von Hippel-Lindau Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 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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