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VHLD
MCID: VNH007
MIFTS: 69

Von Hippel-Lindau Syndrome (VHLD) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye 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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Aliases & Descriptions for Von Hippel-Lindau Syndrome:

Name: Von Hippel-Lindau Syndrome 54 12 23 50 24 25 56 66 13 69
Von Hippel-Lindau Disease 12 71 23 50 24 25 51 56 66 29 52 41 42 14
Vhl Syndrome 23 50 24 25
Angiomatosis Retinae 24 25
Lindau Disease 24 56
Vhl 50 56
Von Hippel-Lindau Syndrome, Modifier of 54
Cerebelloretinal Angiomatosis, Familial 25
Familial Cerebelloretinal Angiomatosis 56
Hippel Lindau Syndrome 12
Hippel-Lindau Disease 25
Vhld 66

Characteristics:

Orphanet epidemiological data:

56
von hippel-lindau disease
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (United Kingdom); Age of onset: Adult; Age of death: elderly;

GeneReviews:

23
von hippel-lindau syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course phenotypic variability


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: Neuronal diseases Eye diseases Cardiovascular diseases Nephrological diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 56  
Rare neurological diseases
Rare eye diseases
Rare circulatory system diseases
Rare renal diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 54 193300
Disease Ontology 12 DOID:14175
ICD10 33 Q85.8
MeSH 42 D006623
NCIt 47 C3105
SNOMED-CT 64 46659004
Orphanet 56 ORPHA892
MESH via Orphanet 43 D006623
UMLS via Orphanet 70 C0019562
ICD10 via Orphanet 34 Q85.8
UMLS 69 C0019562
Sources

Summaries for Von Hippel-Lindau Syndrome

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OMIM : 54 Von Hippel-Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of... (193300) more...

MalaCards based summary : Von Hippel-Lindau Syndrome, also known as von hippel-lindau disease, is related to pheochromocytoma and aneurysm, 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 Glioma and MicroRNAs in cancer. The drugs Everolimus and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include kidney, pancreas and brain, and related phenotypes are Decreased sensitivity to paclitaxel and Increased mitotic index

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.

NIH Rare Diseases : 50 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 : 41 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 : 51 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.

UniProtKB/Swiss-Prot : 66 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).

GeneReviews: NBK1463
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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 93)
id Related Disease Score Top Affiliating Genes
1 pheochromocytoma 29.7 CHGA CHGB MEN1 NF1 NPY PNMT
2 aneurysm 29.4 CHGA MEN1 NF1 PNMT RET SDHB
3 vhl-related pheochromocytoma 12.2
4 hemangioblastoma 11.8
5 angiomatosis 11.7
6 renal cell carcinoma 11.6
7 endolymphatic sac tumor 11.6
8 pancreatic serous cystadenoma 11.6
9 clear cell renal cell carcinoma 11.3
10 pancreatic cancer 11.3
11 adrenal carcinoma 11.3
12 insulinoma 11.3
13 multiple endocrine neoplasia 10.3
14 phaeochromocytoma 10.3
15 pancreatitis 10.2
16 neuropathy, congenital, with arthrogryposis multiplex 10.2 SDHB SDHC SDHD
17 paraganglioma and gastric stromal sarcoma 10.2 SDHB SDHC SDHD
18 glioma susceptibility 2 10.2 SDHB SDHC SDHD
19 amaurosis congenita, cone-rod type, with congenital hypertrichosis 10.2 SDHB SDHC SDHD
20 serous surface papilloma 10.2 SDHB SDHC SDHD
21 glycogen storage disease ic 10.2 SDHB SDHC SDHD
22 neuroendocrine tumor 10.2
23 pancreatic neuroendocrine tumor 10.2
24 paraganglioma 10.2
25 main bronchus cancer 10.2 CHGA VEGFA VHL
26 carotenemia 10.2 SDHB SDHC SDHD
27 catastrophic antiphospholipid syndrome 10.2 RET SDHB SDHD VHL
28 acrocapitofemoral dysplasia 10.1 RET SDHB SDHD VHL
29 bone ameloblastoma 10.1 RET SDHB SDHD VHL
30 cardiac arrest 10.1 RET SDHB SDHC SDHD
31 granular cell leiomyosarcoma 10.1 INHA VEGFA VHL
32 cystadenoma 10.1
33 retinitis 10.1
34 hemangioma 10.1
35 endotheliitis 10.1
36 sporadic pheochromocytoma 10.1
37 gtp cyclohydrolase 1-deficient dopa-responsive dystonia 10.1 HIF1A VHL
38 neurofibromatosis-noonan syndrome 10.1 NF1 SDHB SDHC SDHD
39 central nervous system leiomyosarcoma 10.1 HIF1A VEGFA VHL
40 isolated anterior cervical hypertrichosis 10.1 HIF1A VEGFA
41 hyperparathyroidism, familial primary 10.1 CCND1 MEN1 RET
42 intravenous leiomyomatosis 10.1 PNMT RET SDHB SDHC SDHD
43 isolated methylmalonic acidemia 10.1 RET SDHB SDHC SDHD VHL
44 endocervical adenocarcinoma 10.1 PNMT RET SDHB SDHC SDHD
45 acute posterior multifocal placoid pigment epitheliopathy 10.1 HIF1A VEGFA VHL
46 mitochondrial complex ii deficiency 10.0 CHGA CHGB MEN1 SDHD
47 parathyroid carcinoma 10.0 CHGA MEN1 RET
48 sarcomatoid renal cell carcinoma 10.0 HIF1A VEGFA VHL
49 t-cell adult acute lymphocytic leukemia 10.0 CHGA RET TSC2
50 neutropenia, severe congenital, 5, autosomal recessive 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
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Symptoms & Phenotypes for Von Hippel-Lindau Syndrome

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Symptoms by clinical synopsis from OMIM:

193300

Clinical features from OMIM:

193300

Human phenotypes related to Von Hippel-Lindau Syndrome:

56 32 (show top 50) (show all 54)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 Frequent (79-30%) HP:0001251
2 nausea and vomiting 56 32 Frequent (79-30%) HP:0002017
3 hydrocephalus 56 32 Frequent (79-30%) HP:0000238
4 nystagmus 56 32 Very frequent (99-80%) HP:0000639
5 hypertension 56 32 Occasional (29-5%) HP:0000822
6 hyperhidrosis 56 32 Occasional (29-5%) HP:0000975
7 gait disturbance 56 32 Frequent (79-30%) HP:0001288
8 neurological speech impairment 56 32 Very frequent (99-80%) HP:0002167
9 cataract 56 32 Occasional (29-5%) HP:0000518
10 increased intracranial pressure 56 32 Occasional (29-5%) HP:0002516
11 sensorineural hearing impairment 56 32 Very frequent (99-80%) HP:0000407
12 visual impairment 56 32 Very frequent (99-80%) HP:0000505
13 arrhythmia 56 32 Occasional (29-5%) HP:0011675
14 sensory neuropathy 56 32 Frequent (79-30%) HP:0000763
15 hemiplegia/hemiparesis 56 32 Frequent (79-30%) HP:0004374
16 arteriovenous malformation 56 32 Very frequent (99-80%) HP:0100026
17 migraine 56 32 Frequent (79-30%) HP:0002076
18 aplasia/hypoplasia of the cerebellum 56 32 Very frequent (99-80%) HP:0007360
19 abnormality of the retinal vasculature 56 32 Very frequent (99-80%) HP:0008046
20 multicystic kidney dysplasia 56 32 Frequent (79-30%) HP:0000003
21 polycystic kidney dysplasia 56 32 Frequent (79-30%) HP:0000113
22 glaucoma 56 32 Occasional (29-5%) HP:0000501
23 retinal detachment 56 32 Occasional (29-5%) HP:0000541
24 visual loss 56 32 Occasional (29-5%) HP:0000572
25 pancreatic cysts 56 32 Very frequent (99-80%) HP:0001737
26 pheochromocytoma 56 32 Occasional (29-5%) HP:0002666
27 capillary hemangiomas 56 32 Frequent (79-30%) HP:0005306
28 multiple renal cysts 56 32 Occasional (29-5%) HP:0005562
29 renal cell carcinoma 56 32 Very frequent (99-80%) HP:0005584
30 papillary cystadenoma of the epididymis 56 32 Frequent (79-30%) HP:0009715
31 abnormality of the cerebral vasculature 56 32 Very frequent (99-80%) HP:0100659
32 visceral angiomatosis 56 32 Very frequent (99-80%) HP:0100761
33 abnormality of the lymphatic system 56 32 Occasional (29-5%) HP:0100763
34 neoplasm of the middle ear 56 32 Occasional (29-5%) HP:0100799
35 vertigo 32 HP:0002321
36 hearing impairment 56 Occasional (29-5%)
37 neoplasm 56 Occasional (29-5%)
38 teleangiectasia of the skin 56 Frequent (79-30%)
39 abnormality of the kidney 56 Frequent (79-30%)
40 abnormality of the pancreas 56 Occasional (29-5%)
41 retinal hemangioblastoma 56 Very frequent (99-80%)
42 neuroendocrine neoplasm 56 Occasional (29-5%)
43 vascular neoplasm 56 Very frequent (99-80%)
44 tinnitus 32 HP:0000360
45 neoplasm of the pancreas 32 HP:0002894
46 abnormality of the liver 32 HP:0001392
47 paraganglioma 32 HP:0002668
48 epididymal cyst 32 HP:0030424
49 polycythemia 32 HP:0001901
50 pulmonary capillary hemangiomatosis 32 HP:0005954

UMLS symptoms related to Von Hippel-Lindau Syndrome:


vertigo

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased sensitivity to paclitaxel GR00112-A-0 8.96 NF1 VHL
2 Increased mitotic index GR00110-A-0 8.8 MET RET SDHD

MGI Mouse Phenotypes related to Von Hippel-Lindau Syndrome:

44 (show all 19)
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.46 CCND1 CHGA HIF1A INHA MEN1 MET
2 endocrine/exocrine gland MP:0005379 10.41 CCND1 CHGA CHGB HIF1A INHA MEN1
3 homeostasis/metabolism MP:0005376 10.41 CCND1 CHGA CHGB HIF1A INHA MEN1
4 growth/size/body region MP:0005378 10.34 CCND1 CHGA HIF1A INHA MEN1 MET
5 cellular MP:0005384 10.32 CCND1 HIF1A MEN1 MET NF1 RASSF1
6 mortality/aging MP:0010768 10.31 CCND1 CHGA HIF1A INHA MEN1 MET
7 digestive/alimentary MP:0005381 10.3 CCND1 HIF1A INHA MEN1 MET NF1
8 embryo MP:0005380 10.2 HIF1A MEN1 MET NF1 RET SDHD
9 immune system MP:0005387 10.19 CCND1 HIF1A INHA MEN1 MET NF1
10 neoplasm MP:0002006 10.18 CCND1 HIF1A INHA MEN1 MET NF1
11 liver/biliary system MP:0005370 10.16 HIF1A INHA MEN1 MET NF1 NPY
12 craniofacial MP:0005382 10.11 CCND1 HIF1A MEN1 MET NF1 VEGFA
13 normal MP:0002873 10.1 CCND1 HIF1A INHA MET NF1 NPY
14 nervous system MP:0003631 10.06 CHGB HIF1A MEN1 MET NF1 NPY
15 limbs/digits/tail MP:0005371 9.95 RET VEGFA VHL HIF1A MET NF1
16 muscle MP:0005369 9.95 HIF1A MEN1 MET NF1 RET VEGFA
17 renal/urinary system MP:0005367 9.81 CHGA HIF1A MET NF1 NPY RET
18 reproductive system MP:0005389 9.56 CCND1 CHGA INHA MEN1 RET TSC2
19 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 all 49)
id 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 5284616 6436030 46835353
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 Phase 2 38916-34-6, 51110-01-1 53481605
15
Pancrelipase Approved Phase 2 53608-75-6
16
Vatalanib Investigational Phase 2 212141-54-3 151194
17 Fluorodeoxyglucose F18 Phase 2
18 Radiopharmaceuticals Phase 2
19 Protein Kinase Inhibitors Phase 2
20 Angiogenesis Inhibitors Phase 2,Phase 1,Early Phase 1
21 Angiogenesis Modulating Agents Phase 2,Phase 1,Early Phase 1
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
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
38
Niacin Approved, Investigational, Nutraceutical 59-67-6 938
39
Nicotinamide Approved, Nutraceutical 98-92-0 936
40 Micronutrients
41 Nicotinic Acids
42 Trace Elements
43 Vitamin B Complex
44 Vitamins
45 Epinephryl borate
46 Racepinephrine
47 Folate Nutraceutical
48 Vitamin B3 Nutraceutical
49 Vitamin B9 Nutraceutical

Interventional clinical trials:

(show all 37)
id Name Status NCT ID Phase
1 A Study of Cabozantinib (XL184) vs Everolimus in Subjects With Metastatic Renal Cell Carcinoma Active, not recruiting NCT01865747 Phase 3
2 17AAG to Treat Kidney Tumors in Von Hippel-Lindau Disease Completed NCT00088374 Phase 2
3 Treatment of Von Hippel-Lindau (VHL)-Related Hemangioblastoma With PTK787/ZK 222584 Completed NCT00052013 Phase 2
4 Study of Sunitinib in Patients With Von Hippel-Lindau (VHL) Disease Completed NCT01168440 Phase 2
5 Phase II Study of Vandetanib in Individuals With Kidney Cancer Completed NCT00566995 Phase 2
6 Metabolic Mapping to Measure Retinal Metabolism Completed NCT00385333 Phase 2
7 pazopanib_NCRCC,Ph2 STUDY Completed NCT01538238 Phase 2
8 Treatment of Exudative and Vasogenic Chorioretinal Diseases Including Variants of AMD and Other CNV Related Maculopathy Completed NCT00470977 Phase 1, Phase 2
9 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
10 PT2385 for the Treatment of Von Hippel-Lindau Disease-Associated Clear Cell Renal Cell Carcinoma Recruiting NCT03108066 Phase 2
11 Evaluation of 68Gallium-DOTATATE PET/CT for Detecting Neuroendocrine Tumors Recruiting NCT01967537 Phase 2
12 Pazopanib in Von Hippel-Lindau (VHL) Syndrome Active, not recruiting NCT01436227 Phase 2
13 Sunitinib Malate to Treat Advanced Eye Disease in Patients With Von Hippel-Lindau Syndrome Terminated NCT00673816 Phase 1, Phase 2
14 Evaluation of Sunitinib Malate in Patients With Von Hippel-Lindau Syndrome (VHL) Who Have VHL Lesions to Follow Terminated NCT00330564 Phase 2
15 TKI 258 in Von Hippel-Lindau Syndrome (VHL) Terminated NCT01266070 Phase 2
16 Vaccine Therapy With Tumor Specific Mutated VHL Peptides in Adult Cancer Patients With Renal Cell Carcinoma Terminated NCT00001703 Phase 2
17 Vandetanib to Treat Advanced Kidney Cancer Terminated NCT01372813 Phase 2
18 Imaging Studies of Kidney Cancer Using 18F-VM4-037 Terminated NCT01712685 Phase 2
19 EYE001 to Treat Retinal Tumors in Patients With Von Hippel-Lindau Syndrome Completed NCT00056199 Phase 1
20 Ranibizumab Injections to Treat Retinal Tumors in Patients With Von Hippel-Lindau Syndrome Completed NCT00089765 Phase 1
21 Effect of Vorinostat on Nervous System Hemangioblastomas in Von Hippel-Lindau Disease (Missense Mutation Only) Enrolling by invitation NCT02108002 Phase 1
22 Visualizing Vascular Endothelial Growth Factor (VEGF) Producing Lesions in Von Hippel-Lindau Disease Completed NCT00970970
23 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
24 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
25 Effect of Sorafenib on ccRCC Uptake of Radiolabeled Bevacizumab or cG250 Completed NCT00602862
26 Natural History and Management of Pancreatic Lesions in Von Hippel-Lindau Disease Recruiting NCT00062166
27 Screening for Endolymphatic Sac Tumours (ELSTs) in Von Hippel-Lindau (vHL) Patients Recruiting NCT02420067
28 National Eye Institute Biorepository for Retinal Diseases Recruiting NCT01496625
29 Clinical Manifestations and Molecular Bases of Heritable Urologic Malignant Disorders Recruiting NCT00001238
30 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
31 Diagnosis of Pheochromocytoma Recruiting NCT00004847
32 Von Hippel-Lindau Disease Genetic Epidemiology Study Active, not recruiting NCT00001803
33 Study of Brain and Spinal Cord Tumor Growth and Cyst Development in Patients With Von Hippel Lindau Disease Active, not recruiting NCT00005902
34 Psychosocial Consequences of the Screening of Von Hippel Lindau Diseases for Patients Operated for a hémangioblastoma of Nervous Centrasl System Active, not recruiting NCT02120040
35 Ruxolitinib for Chuvash Polycythemia Available NCT01730755
36 Assessment of Residual VHL Function in Tumors - Can it Predict the Patients' Individual Course of Disease? Enrolling by invitation NCT02207686
37 Bevacizumab (Avastin) in Unresectable/Recurrent Hemangioblastoma From Von-Hippel-Lindau Disease Terminated NCT01015300 Early Phase 1

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

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Genetic tests related to Von Hippel-Lindau Syndrome:

id Genetic test Affiliating Genes
1 Von Hippel-Lindau Syndrome 29
2 Von Hippel-Lindau 29
3 Von Hippel-Lindau Disease 24 VHL
Sources

Anatomical Context for Von Hippel-Lindau Syndrome

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

39
Kidney, Pancreas, Brain, Spinal Cord, Retina, Adrenal Gland, Eye
Sources

Publications for Von Hippel-Lindau Syndrome

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Articles related to Von Hippel-Lindau Syndrome:

(show top 50) (show all 74)
id Title Authors Year
1
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
2
Treatment of multiple synchronous misdiagnosed renal cell cancers in a young patient affected by a "de novo" Von Hippel-Lindau syndrome. ( 28256701 )
2017
3
Surgical treatment of sporadic and von Hippel-Lindau syndrome-associated intramedullary hemangioblastomas. ( 27591060 )
2016
4
Freiburg Neuropathology Case Conference : Petrosal mass lesion in a patient with von Hippel-Lindau syndrome. ( 27286949 )
2016
5
Manifestations of Von Hippel Lindau syndrome: a retrospective national review. ( 27284160 )
2016
6
Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome. ( 27527340 )
2016
7
Recurrent Pheochromocytomas in a Child with Familial von Hippel-Lindau Syndrome. ( 27130508 )
2016
8
Endolymphatic sac tumor in association with von Hippel-Lindau syndrome. ( 26991214 )
2016
9
Supratentorial haemangioblastoma without von Hippel-Lindau syndrome in an adult: A rare tumor with review of literature. ( 26889272 )
2016
10
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
11
Use of sunitinib in a 30-year-old woman with pancreatic neuroendocrine tumors associated with Von Hippel-Lindau syndrome. ( 24921213 )
2015
12
Assessment of tumor growth in von Hippel Lindau syndrome. ( 25700900 )
2015
13
Genotype-phenotype analysis of von Hippel-Lindau syndrome in fifteen Indian families. ( 25952756 )
2015
14
Pheochromocytoma screening initiation and frequency in von Hippel-Lindau syndrome. ( 26451910 )
2015
15
Tumor growth in von Hippel Lindau syndrome: in reply to Qazi and colleagues. ( 25700902 )
2015
16
VON HIPPEL LINDAU SYNDROME AND SURVEILLANCE: A FIVE YEAR FOLLOW UP CASE REPORT. ( 27004355 )
2015
17
Recurrent lobular capillary hemangiomas in a patient with neurofibromatosis type 1 (NF1) and von Hippel-Lindau syndrome (VHL). ( 27051783 )
2015
18
A novel mutation links to von Hippel-Lindau syndrome in a Chinese family with hemangioblastoma. ( 25966224 )
2015
19
Renal cell carcinoma to haemangioblastoma metastasis: a rare manifestation of Von Hippel-Lindau syndrome. ( 25088480 )
2015
20
Von Hippel-Lindau Syndrome. ( 26279462 )
2015
21
From arterial hypertension complications to von Hippel-Lindau syndrome diagnosis. ( 26268347 )
2015
22
Clear cell papillary renal cell carcinoma in patients with von Hippel-Lindau syndrome--clinicopathological features and comparative genomic analysis of 3 cases. ( 25081542 )
2014
23
Paraplegia in a patient with Von Hippel Lindau syndrome: surgical and reconstructive treatment of Marjolin's ulcer. A case report. ( 25376307 )
2014
24
Massive exudative retinal detachment following photodynamic therapy for retinal hemangioma in von Hippel-Lindau Syndrome. ( 24632330 )
2014
25
Von Hippel-Lindau syndrome: demonstration of entire disease spectrum with (68)Ga-DOTANOC PET-CT. ( 24497809 )
2014
26
68Ga DOTANOC PET/CT aiding in the diagnosis of von Hippel-Lindau syndrome by detecting cerebellar hemangioblastoma and adrenal pheochromocytoma. ( 24999687 )
2014
27
Assessment of tumor growth in pancreatic neuroendocrine tumors in von Hippel Lindau syndrome. ( 24440063 )
2014
28
Clinical presentation of Von Hippel Lindau syndrome type 2B associated with VHL p.A149S mutation in a large Turkish family. ( 23673869 )
2014
29
Biliary and gastric drainage in advanced pancreatic serous cystadenoma and portal hypertension in Von Hippel-Lindau syndrome. ( 24772348 )
2014
30
Superior mediastinal paraganglioma associated with von Hippel-Lindau syndrome: report of a case. ( 24678933 )
2014
31
Laparoscopic Adrenalectomy in a Patient of Von Hippel Lindau Syndrome with Ventriculo-Peritoneal Shunt-Anaesthetic management. ( 25386452 )
2014
32
Manifestations of Von Hippel Lindau syndrome: a retrospective national review. ( 24352051 )
2014
33
p.N78S and p.R161Q germline mutations of the VHL gene are present in von Hippel-Lindau syndrome in two pedigrees. ( 23842656 )
2013
34
Von hippel-lindau syndrome: diagnosis and management of hemangioblastoma and pheochromocytoma. ( 23781388 )
2013
35
Bilateral Laparoscopic adrenalectomy due to a phaeochromocytoma in Von Hippel-Lindau Syndrome: a technique with 4 trocars. ( 22591617 )
2012
36
Partial adrenalectomy minimizes the need for long-term hormone replacement in pediatric patients with pheochromocytoma and von Hippel-Lindau syndrome. ( 23164001 )
2012
37
Long-term disease control with sunitinib in a patient with metastatic pancreatic neuroendocrine tumor (NET) associated with Von Hippel-Lindau syndrome (VHL). ( 22415670 )
2012
38
Midline basifrontal solid hemangioblastoma in non von hippel lindau syndrome patient. ( 23189014 )
2012
39
Re: Functional and oncologic outcomes of partial adrenalectomy for pheochromocytoma in patients with von Hippel-Lindau syndrome after at least 5 years of followup. J. N. Benhammou, R. S. Boris, K. Pacak, P. A. Pinto, W. M. Linehan and G. Bratslavsky. J Urol 2010;184:1855-1859. ( 21511290 )
2011
40
Molecular basis of von Hippel-Lindau syndrome in Chinese patients. ( 21362373 )
2011
41
Spinal hemangioblastoma of cauda equina origin not associated with von Hippel-Lindau syndrome--case report. ( 22027253 )
2011
42
[Epididymal cyst in von Hippel-Lindau syndrome: clinicopathologic analysis of 3 cases]. ( 20369698 )
2010
43
Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndrome. ( 19906784 )
2010
44
[Clinicopathologic study of von Hippel-Lindau syndrome-related and sporadic hemangioblastomas of central nervous system]. ( 20450758 )
2010
45
Hypogonadotrophic hypogonadism due to intrasellar hemangioblastoma in von Hippel-Lindau syndrome. ( 19215058 )
2009
46
[Large germline deletion of the VHL gene in Chinese families with von Hippel-Lindau syndrome]. ( 19806577 )
2009
47
Parasympathetic paragangliomas are part of the Von Hippel-Lindau syndrome. ( 19808854 )
2009
48
Indium-111 pentetreotide uptake within cerebellar hemangioblastoma in von Hippel-lindau syndrome. ( 18356676 )
2008
49
Renal cell carcinoma in a von Hippel-Lindau syndrome: when should phaeochromocytoma be anticipated? ( 17657389 )
2007
50
Proteomic profiling of von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2 pheochromocytomas reveals different expression of chromogranin B. ( 17639059 )
2007
Sources

Variations for Von Hippel-Lindau Syndrome

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

66 (show top 50) (show all 104)
id 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
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 rs5030806
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
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 124)
id Gene Variation Type Significance SNP ID Assembly Location
1 VHL NM_000551.3(VHL): c.223_225delATC (p.Ile75del) deletion Pathogenic rs794729660 GRCh37 Chromosome 3, 10183754: 10183756
2 VHL NM_000551.3(VHL): c.548C> A (p.Ser183Ter) single nucleotide variant Pathogenic rs5030823 GRCh37 Chromosome 3, 10191555: 10191555
3 VHL NM_000551.3(VHL): c.500G> A (p.Arg167Gln) single nucleotide variant Pathogenic rs5030821 GRCh37 Chromosome 3, 10191507: 10191507
4 VHL NM_000551.3(VHL): c.481C> T (p.Arg161Ter) single nucleotide variant Pathogenic/Likely pathogenic rs5030818 GRCh37 Chromosome 3, 10191488: 10191488
5 VHL NM_000551.3(VHL): c.499C> T (p.Arg167Trp) single nucleotide variant Pathogenic/Likely pathogenic rs5030820 GRCh37 Chromosome 3, 10191506: 10191506
6 VHL NM_000551.3(VHL): c.499C> G (p.Arg167Gly) single nucleotide variant Pathogenic/Likely pathogenic rs5030820 GRCh37 Chromosome 3, 10191506: 10191506
7 VHL NM_000551.3(VHL): c.263G> C (p.Trp88Ser) single nucleotide variant Pathogenic rs119103277 GRCh37 Chromosome 3, 10183794: 10183794
8 VHL NM_000551.3(VHL): c.334T> C (p.Tyr112His) single nucleotide variant Pathogenic rs104893824 GRCh37 Chromosome 3, 10183865: 10183865
9 VHL NM_000551.3(VHL): c.292T> C (p.Tyr98His) single nucleotide variant Pathogenic rs5030809 GRCh37 Chromosome 3, 10183823: 10183823
10 VHL NM_000551.3(VHL): c.496G> T (p.Val166Phe) single nucleotide variant Pathogenic rs104893825 GRCh37 Chromosome 3, 10191503: 10191503
11 VHL NM_000551.3(VHL): c.191G> C (p.Arg64Pro) single nucleotide variant Pathogenic/Likely pathogenic rs104893826 GRCh37 Chromosome 3, 10183722: 10183722
12 VHL NM_000551.3(VHL): c.334T> A (p.Tyr112Asn) single nucleotide variant Pathogenic rs104893824 GRCh37 Chromosome 3, 10183865: 10183865
13 VHL NM_000551.3(VHL): c.388G> C (p.Val130Leu) single nucleotide variant Pathogenic rs104893830 GRCh37 Chromosome 3, 10188245: 10188245
14 VHL NM_000551.3(VHL): c.250G> T (p.Val84Leu) single nucleotide variant Pathogenic rs5030827 GRCh37 Chromosome 3, 10183781: 10183781
15 VHL NM_000551.3(VHL): c.277G> A (p.Gly93Ser) single nucleotide variant Pathogenic rs5030808 GRCh37 Chromosome 3, 10183808: 10183808
16 VHL NM_000551.3(VHL): c.491A> G (p.Gln164Arg) single nucleotide variant Pathogenic rs267607170 GRCh37 Chromosome 3, 10191498: 10191498
17 VHL NM_000551.3(VHL): c.320G> C (p.Arg107Pro) single nucleotide variant Pathogenic/Likely pathogenic rs193922609 GRCh37 Chromosome 3, 10183851: 10183851
18 VHL NM_000551.3(VHL): c.371C> T (p.Thr124Ile) single nucleotide variant Likely pathogenic rs193922610 GRCh37 Chromosome 3, 10188228: 10188228
19 VHL NM_000551.3(VHL): c.458T> A (p.Leu153Gln) single nucleotide variant Likely pathogenic rs193922611 GRCh37 Chromosome 3, 10188315: 10188315
20 VHL NM_000551.3(VHL): c.524A> G (p.Tyr175Cys) single nucleotide variant Likely pathogenic rs193922613 GRCh37 Chromosome 3, 10191531: 10191531
21 VHL p.X214Trp single nucleotide variant Likely pathogenic
22 VHL NM_000551.3(VHL): c.194C> G (p.Ser65Trp) single nucleotide variant Pathogenic rs5030826 GRCh37 Chromosome 3, 10183725: 10183725
23 VHL NM_000551.3(VHL): c.208G> A (p.Glu70Lys) single nucleotide variant Pathogenic rs5030802 GRCh37 Chromosome 3, 10183739: 10183739
24 VHL NM_000551.3(VHL): c.319C> G (p.Arg107Gly) single nucleotide variant Pathogenic rs397516440 GRCh37 Chromosome 3, 10183850: 10183850
25 VHL NM_000551.3(VHL): c.467A> G (p.Tyr156Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397516441 GRCh37 Chromosome 3, 10191474: 10191474
26 VHL NM_000551.3(VHL): c.408delT (p.Phe136Leufs) deletion Pathogenic rs397516442 GRCh37 Chromosome 3, 10188265: 10188265
27 VHL NM_000551.3(VHL): c.463+2T> G single nucleotide variant Likely pathogenic rs5030814 GRCh37 Chromosome 3, 10188322: 10188322
28 VHL NM_000551.3(VHL): c.464-1G> A single nucleotide variant Pathogenic rs5030817 GRCh37 Chromosome 3, 10191470: 10191470
29 VHL NM_000551.3(VHL): c.485G> T (p.Cys162Phe) single nucleotide variant Pathogenic rs397516444 GRCh37 Chromosome 3, 10191492: 10191492
30 VHL NM_000551.3(VHL): c.497T> C (p.Val166Ala) single nucleotide variant Pathogenic rs397516445 GRCh37 Chromosome 3, 10191504: 10191504
31 VHL NM_000551.3(VHL): c.233A> G (p.Asn78Ser) single nucleotide variant Pathogenic rs5030804 GRCh37 Chromosome 3, 10183764: 10183764
32 VHL NM_000551.3(VHL): c.256C> G (p.Pro86Ala) single nucleotide variant Pathogenic/Likely pathogenic rs398123481 GRCh37 Chromosome 3, 10183787: 10183787
33 VHL NM_000551.3(VHL): c.326T> A (p.Ile109Asn) single nucleotide variant Likely pathogenic rs398123482 GRCh37 Chromosome 3, 10183857: 10183857
34 VHL NM_000551.3(VHL): c.501_502insTTGTCCGT (p.Ser168Leufs) insertion Pathogenic rs398123483 GRCh37 Chromosome 3, 10191508: 10191509
35 VHL NM_000551.3(VHL): c.445G> T (p.Ala149Ser) single nucleotide variant Pathogenic rs587780077 GRCh37 Chromosome 3, 10188302: 10188302
36 VHL NC_000003.12: g.(?_10149787)_(10149965_?)del deletion Pathogenic GRCh38 Chromosome 3, 10149787: 10149965
37 VHL NM_000551.3(VHL): c.256C> T (p.Pro86Ser) single nucleotide variant Pathogenic/Likely pathogenic rs398123481 GRCh37 Chromosome 3, 10183787: 10183787
38 VHL NM_000551.3(VHL): c.-75_-55del21 deletion Likely pathogenic rs727503744 GRCh38 Chromosome 3, 10141773: 10141793
39 VHL NM_000551.3(VHL): c.351G> T (p.Trp117Cys) single nucleotide variant Pathogenic rs727504215 GRCh37 Chromosome 3, 10188208: 10188208
40 VHL NM_000551.3(VHL): c.194C> T (p.Ser65Leu) single nucleotide variant Pathogenic rs5030826 GRCh38 Chromosome 3, 10142041: 10142041
41 VHL NM_000551.3(VHL): c.257C> T (p.Pro86Leu) single nucleotide variant Pathogenic rs730882034 GRCh38 Chromosome 3, 10142104: 10142104
42 VHL NM_000551.3(VHL): c.263G> A (p.Trp88Ter) single nucleotide variant Pathogenic rs119103277 GRCh38 Chromosome 3, 10142110: 10142110
43 VHL NM_000551.3(VHL): c.266T> C (p.Leu89Pro) single nucleotide variant Pathogenic/Likely pathogenic rs5030807 GRCh38 Chromosome 3, 10142113: 10142113
44 VHL NM_000551.3(VHL): c.473T> C (p.Leu158Pro) single nucleotide variant Pathogenic rs121913346 GRCh38 Chromosome 3, 10149796: 10149796
45 VHL NM_000551.3(VHL): c.477delA (p.Glu160Serfs) deletion Pathogenic rs730882020 GRCh38 Chromosome 3, 10149800: 10149800
46 VHL NM_000551.3(VHL): c.482G> A (p.Arg161Gln) single nucleotide variant Pathogenic rs730882035 GRCh38 Chromosome 3, 10149805: 10149805
47 VHL NM_000551.3(VHL): c.245G> C (p.Arg82Pro) single nucleotide variant Pathogenic rs794726890 GRCh37 Chromosome 3, 10183776: 10183776
48 VHL NM_000551.3(VHL): c.449delA (p.Asn150Ilefs) deletion Pathogenic rs794727253 GRCh37 Chromosome 3, 10188306: 10188306
49 VHL NM_000551.3(VHL): c.586A> T (p.Lys196Ter) single nucleotide variant Pathogenic rs281860296 GRCh37 Chromosome 3, 10191593: 10191593
50 VHL NM_000551.3(VHL): c.258delC (p.Val87Tyrfs) deletion Pathogenic rs864622545 GRCh38 Chromosome 3, 10142105: 10142105

Cosmic variations for Von Hippel-Lindau Syndrome:

9 (show top 50) (show all 1016)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)		 Mutation CDS Mutation AA Conf
1 COSM144975 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.475A>G p.K159E 12
2 COSM965 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.2753T>C p.M918T 12
3 COSM329092 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1721+3A>T p.A548fs*13 12
4 COSM330588 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.2409+1G>A p.A776_Q803del 12
5 COSM327926 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.3158C>A p.S1053* 12
6 COSM330587 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.205-1G>C p.R69fs*7 12
7 COSM220089 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1885G>A p.Q616fs*4 12
8 COSM329090 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.226G>T p.E76* 12
9 COSM329093 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1722-1G>A p.? 12
10 COSM329089 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1466A>G p.Y489C 12
11 COSM30670 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7646C>G p.S2549* 12
12 COSM327927 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7582C>T p.Q2528* 12
13 COSM1710108 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7300C>T p.Q2434* 12
14 COSM707 MET adrenal gland,adrenal gland,pheochromocytoma,benign c.3029C>T p.T1010I 12
15 COSM499 HRAS adrenal gland,adrenal gland,pheochromocytoma,benign c.182A>G p.Q61R 12
16 COSM1732355 H3F3A adrenal gland,adrenal gland,pheochromocytoma,benign c.103G>T p.G35W 12
17 COSM19176 FGFR1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1638C>A p.N546K 12
18 COSM25676 VHL kidney,NS,carcinoma,renal cell c.485G>T p.C162F 9
19 COSM17666 VHL adrenal gland,adrenal gland,pheochromocytoma,malignant c.593T>C p.L198P 9
20 COSM27269 UMPS kidney,NS,carcinoma,renal cell c.528G>A p.L176L 9
21 COSM30474 TRIO kidney,NS,carcinoma,renal cell c.9008A>G p.N3003S 9
22 COSM26594 RNF144A kidney,NS,carcinoma,renal cell c.410C>T p.A137V 9
23 COSM26987 RGS7 kidney,NS,carcinoma,renal cell c.169T>C p.F57L 9
24 COSM26614 RABGAP1 kidney,NS,carcinoma,renal cell c.1533T>A p.H511Q 9
25 COSM30530 PTPN22 kidney,NS,carcinoma,renal cell c.209G>C p.R70P 9
26 COSM24441 NF1 adrenal gland,adrenal gland,pheochromocytoma,malignant c.3721C>T p.R1241* 9
27 COSM329087 NF1 adrenal gland,adrenal gland,pheochromocytoma,malignant c.4558C>T p.Q1520* 9
28 COSM27618 KMT2A kidney,NS,carcinoma,renal cell c.5711C>T p.A1904V 9
29 COSM30502 ITPR3 kidney,NS,carcinoma,renal cell c.4574G>T p.C1525F 9
30 COSM28415 DOCK1 kidney,NS,carcinoma,renal cell c.1306G>T p.D436Y 9
31 COSM30531 COPS4 kidney,NS,carcinoma,renal cell c.385G>C p.G129R 9
32 COSM25654 CDC5L kidney,NS,carcinoma,renal cell c.1196G>A p.R399Q 9
33 COSM30471 ARHGAP20 kidney,NS,carcinoma,renal cell c.1355A>G p.D452G 9
34 COSM132853 NFE2L2 kidney,NS,carcinoma,Type 2 c.245A>G p.E82G 8
35 COSM3724576 MET kidney,NS,carcinoma,Type 1 c.3616G>T p.V1206L 8
36 COSM3724575 MET kidney,NS,carcinoma,Type 1 c.3538C>T p.H1180Y 8
37 COSM691 MET kidney,NS,carcinoma,Type 1 c.3803T>C p.M1268T 8
38 COSM690 MET kidney,NS,carcinoma,Type 1 c.3742T>C p.Y1248H 8
39 COSM3724573 MET kidney,NS,carcinoma,Type 1 c.3476C>G p.S1159W 8
40 COSM3724578 MET kidney,NS,carcinoma,Type 1 c.3637C>T p.L1213F 8
41 COSM3724572 MET kidney,NS,carcinoma,Type 1 c.3328G>A p.V1110I 8
42 COSM704 MET kidney,NS,carcinoma,Type 1 c.3446T>C p.M1149T 8
43 COSM3724577 MET kidney,NS,carcinoma,Type 1 c.3637C>A p.L1213I 8
44 COSM249389 ZNF804A kidney,NS,carcinoma,clear cell renal cell carcinoma c.121G>C p.E41Q 7
45 COSM249350 ZNF804A kidney,NS,carcinoma,clear cell renal cell carcinoma c.2363A>C p.Q788P 7
46 COSM249348 ZNF800 kidney,NS,carcinoma,clear cell renal cell carcinoma c.719A>G p.N240S 7
47 COSM249454 ZNF521 kidney,NS,carcinoma,clear cell renal cell carcinoma c.3298A>G p.S1100G 7
48 COSM30510 ZNF423 kidney,NS,carcinoma,clear cell renal cell carcinoma c.3559G>A p.V1187I 7
49 COSM249421 WWP2 kidney,NS,carcinoma,clear cell renal cell carcinoma c.2056G>C p.E686Q 7
50 COSM1272065 WT1 kidney,NS,carcinoma,clear cell renal cell carcinoma c.332C>A p.P111H 7

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

7
id 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.
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Pathways for Von Hippel-Lindau Syndrome

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

(show all 21)
id Super pathways Score Top Affiliating Genes
1
Glioma 37
Show member pathways
 12.7 CCND1 MET NF1 RASSF1 TSC2 VEGFA
2
MicroRNAs in cancer 37
12.33 CCND1 MET RASSF1 VEGFA
3
Proteoglycans in cancer 37
12.01 CCND1 HIF1A MET VEGFA
4
Thyroid hormone signaling pathway 37
11.83 CCND1 HIF1A TSC2
5
Interleukin-4 and 13 signaling 62
11.82 CCND1 HIF1A VEGFA
6
Glioblastoma Multiforme 60
11.8 CCND1 NF1 TSC2
7
Pathways in cancer 37
11.76 CCND1 HIF1A MET RASSF1 RET VEGFA
8
Citrate cycle (TCA cycle) 37
Show member pathways
 11.74 SDHB SDHC SDHD
9
HIF-1 signaling pathway 37
11.7 HIF1A VEGFA VHL
10
Signaling events mediated by VEGFR1 and VEGFR2 1
Show member pathways
 11.65 HIF1A VEGFA VHL
11
Bladder cancer 1 37
11.53 CCND1 RASSF1 VEGFA
12
Transcription Ligand-dependent activation of the ESR1/SP pathway 21
Show member pathways
 11.48 CCND1 HIF1A VEGFA
13
Integrated Breast Cancer Pathway 1
11.44 CCND1 NF1 TSC2 VEGFA
14
Central carbon metabolism in cancer 37
11.42 HIF1A MET RET
15
HIF1Alpha Pathway 60
11.23 HIF1A VEGFA VHL
16
Hepatitis C and Hepatocellular Carcinoma 1
11.14 CCND1 HIF1A VEGFA
17
Aryl Hydrocarbon Receptor 1
11.01 NF1 RET VEGFA
18
Immune response_Oncostatin M signaling via JAK-Stat in human cells 21
10.88 CCND1 VEGFA
19
Amplification and Expansion of Oncogenic Pathways as Metastatic Traits 1
10.8 VEGFA VHL
20
Hypoxic and oxygen homeostasis regulation of HIF-1-alpha 1
10.71 HIF1A VHL
21
miR-148a/miR-31/FIH1/HIF1andalpha;-Notch signaling in glioblastoma 1
10.43 HIF1A VEGFA
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:

id Name GO ID Score Top Affiliating Genes
1 secretory granule GO:0030141 9.33 CHGA CHGB VEGFA
2 respiratory chain complex II GO:0045273 8.96 SDHB SDHC
3 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.8 SDHB SDHC SDHD

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.78 MEN1 MET NF1 RET
2 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 9.63 HIF1A VEGFA VHL
3 positive regulation of endothelial cell proliferation GO:0001938 9.61 HIF1A NF1 VEGFA
4 cerebral cortex development GO:0021987 9.58 HIF1A NF1 NPY
5 mammary gland alveolus development GO:0060749 9.52 CCND1 VEGFA
6 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0030949 9.51 HIF1A VEGFA
7 lactation GO:0007595 9.5 CCND1 HIF1A VEGFA
8 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.49 NF1 RET
9 hemoglobin biosynthetic process GO:0042541 9.37 HIF1A INHA
10 positive chemotaxis GO:0050918 9.33 MET TSC2 VEGFA
11 positive regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061419 9.26 HIF1A VEGFA
12 tricarboxylic acid cycle GO:0006099 9.13 SDHB SDHC SDHD
13 camera-type eye morphogenesis GO:0048593 8.8 HIF1A NF1 VEGFA

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

id Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.5 CHGB INHA NPY
2 electron carrier 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 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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