VHLS
MCID: VNH007
MIFTS: 73

Von Hippel-Lindau Syndrome (VHLS)

Categories: Cancer diseases, Cardiovascular diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Von Hippel-Lindau Syndrome

MalaCards integrated aliases for Von Hippel-Lindau Syndrome:

Name: Von Hippel-Lindau Syndrome 57 11 24 19 42 58 73 28 5 71
Von Hippel-Lindau Disease 11 24 19 42 52 58 75 73 53 41 43 14
Vhl Syndrome 24 19 42
Vhl 57 19 58
Von Hippel-Lindau Syndrome, Modifier of 57 5
Vhls 57 73
Cerebelloretinal Angiomatosis, Familial 42
Familial Cerebelloretinal Angiomatosis 58
Hippel Lindau Syndrome 11
Hippel-Lindau Disease 42
Angiomatosis Retinae 42
Lindau Disease 58
Vhld 73

Characteristics:


Inheritance:

Von Hippel-Lindau Syndrome: Autosomal dominant 57
Von Hippel-Lindau Disease: Autosomal dominant 58

Prevelance:

Von Hippel-Lindau Disease: 1-9/100000 (United Kingdom, United Kingdom, Denmark, Denmark) 58

Age Of Onset:

Von Hippel-Lindau Disease: Adolescent,Adult,Childhood 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
highly variable phenotype, even within families
incidence of 1 in 39,000
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


GeneReviews:

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

Classifications:

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


Summaries for Von Hippel-Lindau Syndrome

MedlinePlus Genetics: 42 Von Hippel-Lindau syndrome is an inherited disorder characterized by the formation of tumors and fluid-filled sacs (cysts) in many different parts of the body. Tumors may be either noncancerous or cancerous and most frequently appear during young adulthood; however, the signs and symptoms of von Hippel-Lindau syndrome can occur throughout life.Tumors called hemangioblastomas are characteristic of von Hippel-Lindau syndrome. These growths are made of newly formed blood vessels. Although they are typically noncancerous, they can cause serious or life-threatening complications. Hemangioblastomas that develop in the brain and spinal cord can cause headaches, vomiting, weakness, and a loss of muscle coordination (ataxia). Hemangioblastomas can also occur in the light-sensitive tissue that lines the back of the eye (the retina). These tumors, which are also called retinal angiomas, may cause vision loss.People with von Hippel-Lindau syndrome commonly develop cysts in the kidneys, pancreas, and genital tract. They are also at an increased risk of developing a type of kidney cancer called clear cell renal cell carcinoma and a type of pancreatic cancer called a pancreatic neuroendocrine tumor.Von Hippel-Lindau syndrome is associated with a type of tumor called a pheochromocytoma, which most commonly occurs in the adrenal glands (small hormone-producing glands located on top of each kidney). Pheochromocytomas are usually noncancerous. They may cause no symptoms, but in some cases they are associated with headaches, panic attacks, excess sweating, or dangerously high blood pressure that may not respond to medication. Pheochromocytomas are particularly dangerous in times of stress or trauma, such as when undergoing surgery or in an accident, or during pregnancy.About 10 percent of people with von Hippel-Lindau syndrome develop endolymphatic sac tumors, which are noncancerous tumors in the inner ear. These growths can cause hearing loss in one or both ears, as well as ringing in the ears (tinnitus) and problems with balance. Without treatment, these tumors can cause sudden profound deafness.Noncancerous tumors may also develop in the liver and lungs in people with von Hippel-Lindau syndrome. These tumors do not appear to cause any signs or symptoms.

MalaCards based summary: Von Hippel-Lindau Syndrome, also known as von hippel-lindau disease, is related to hemangioblastoma and pancreatic serous cystadenoma, and has symptoms including vertigo and tinnitus. An important gene associated with Von Hippel-Lindau Syndrome is VHL (Von Hippel-Lindau Tumor Suppressor), and among its related pathways/superpathways are Signal Transduction and Malignant pleural mesothelioma. The drugs Ranibizumab and Somatostatin have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, pancreas and kidney, and related phenotypes are hypertension and renal cell carcinoma

MedlinePlus: 41 What is Von Hippel-Lindau disease (VHL)? Von Hippel-Lindau disease (VHL) is a rare disease that causes tumors and cysts to grow in your body. They can grow in your brain and spinal cord, kidneys, pancreas, adrenal glands, and reproductive tract. The tumors are usually benign (non-cancerous). But some tumors, such as those in the kidney and pancreas, can become cancerous. What causes Von Hippel-Lindau disease (VHL)? Von Hippel-Lindau disease (VHL) is a genetic disease. It is inherited, which means that it is passed down from parent to child. What are the symptoms of Von Hippel-Lindau disease (VHL)? Symptoms of VHL depend on the size and location of the tumors. They may include: Headaches Problems with balance and walking Dizziness Weakness of the limbs Vision problems High blood pressure How is Von Hippel-Lindau disease (VHL) diagnosed? Detecting and treating VHL early is important. Your health care provider may suspect that you have VHL if you have certain patterns of cysts and tumors. There is a genetic test for VHL. If you have it, you will need other tests, including imaging tests, to look for tumors and cysts. What are the treatments for Von Hippel-Lindau disease (VHL)? Treatment can vary, depending on the location and size of the tumors and cysts. It usually involves surgery. Certain tumors may be treated with radiation therapy. The goal is to treat growths while they are small and before they do permanent damage. You will need to have careful monitoring by a doctor and/or medical team familiar with the disorder. NIH: National Institute of Neurological Disorders and Stroke

OMIM®: 57 Von Hippel-Lindau syndrome (VHLS) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), pheochromocytoma, and pancreatic tumors. Neumann and Wiestler (1991) classified VHL as type 1 (without pheochromocytoma) and type 2 (with pheochromocytoma). Brauch et al. (1995) further subdivided VHL type 2 into type 2A (with pheochromocytoma) and type 2B (with pheochromocytoma and renal cell carcinoma). Hoffman et al. (2001) noted that VHL type 2C refers to patients with isolated pheochromocytoma without hemangioblastoma or renal cell carcinoma. McNeill et al. (2009) proposed that patients with VHL syndrome caused by large VHL deletions that include the HSPC300 gene (C3ORF10; 611183) have a specific subtype of VHL syndrome characterized by protection from renal cell carcinoma, which the authors proposed be named VHL type 1B. Nordstrom-O'Brien et al. (2010) provided a review of the genetics of von Hippel-Lindau disease. (193300) (Updated 08-Dec-2022)

NINDS: 52 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.

GARD: 19 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 genetic change in the VHL gene and is inherited in an autosomal dominant manner.

UniProtKB/Swiss-Prot: 73 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).

Orphanet: 58 Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma.

Wikipedia: 75 Von Hippel-Lindau disease (VHL), also known as Von Hippel-Lindau syndrome, is a rare genetic disorder... more...

GeneReviews: NBK1463

Related Diseases for Von Hippel-Lindau Syndrome

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

(show top 50) (show all 582)
# Related Disease Score Top Affiliating Genes
1 hemangioblastoma 33.2 VHL VEGFA HIF1A
2 pancreatic serous cystadenoma 32.7 VHL MEN1
3 hereditary paraganglioma-pheochromocytoma syndromes 32.6 VHL SDHD SDHC SDHB RET NF1
4 adrenal carcinoma 32.6 SDHD SDHB RET NF1 MEN1
5 renal cell carcinoma, nonpapillary 32.4 VHL VEGFA TSC2 SDHC SDHB RET
6 polycythemia 32.4 VHL VEGFA HIF1A
7 primary polycythemia 32.2 VHL HIF1A ELOB
8 chromophobe renal cell carcinoma 32.1 VHL VEGFA HIF1A CCND1
9 central nervous system hemangioma 31.9 VHL VEGFA RET
10 fumarate hydratase deficiency 31.9 VHL HIF1A
11 hereditary renal cell carcinoma 31.7 VHL TSC2 SDHD SDHB ELOB CUL2
12 neuroendocrine tumor 31.6 VEGFA SDHD RET NF1 MEN1 CCND1
13 kidney cancer 31.5 VHL VEGFA TSC2 SDHB HIF1A ELOB
14 cardiovascular organ benign neoplasm 31.4 VHL VEGFA SDHD SDHB RET NF1
15 pheochromocytoma 31.4 VHL VEGFA TH SP1 SDHD SDHC
16 erythrocytosis, familial, 2 31.3 VHL LOC107303340 HIF1A FANCD2 ELOB CUL2
17 multiple endocrine neoplasia, type iia 31.3 VHL SDHD SDHC SDHB RET PNMT
18 multiple endocrine neoplasia 31.3 VHL TH SDHD SDHC SDHB RET
19 retinal hemangioblastoma 31.3 VHL VEGFA HIF1A ELOB CUL2
20 hemangioma 31.2 VHL VEGFA TSC2 RET PKD1 MEN1
21 inherited cancer-predisposing syndrome 31.2 VHL TSC2 SDHD SDHC SDHB RET
22 bap1 tumor predisposition syndrome 31.2 VHL TSC2 SDHD SDHC SDHB RET
23 extra-adrenal pheochromocytoma 31.2 SDHD SDHC SDHB RET PNMT NF1
24 paraganglioma 31.2 VHL TH SDHD SDHC SDHB RET
25 renal cell carcinoma, papillary, 1 31.0 VHL VEGFA SDHB RET LOC107303340 HIF1A
26 nonsyndromic paraganglioma 30.9 SDHB RET
27 carcinoid syndrome 30.9 VEGFA SDHD NPY
28 carotid body cancer 30.8 SDHD SDHB
29 cowden syndrome 30.8 TSC2 SDHD SDHC SDHB RET NF1
30 neurofibromatosis 30.8 VHL VEGFA TSC2 SDHD SDHC SDHB
31 adrenal cortical adenoma 30.8 SDHD SDHC MEN1
32 thyroid carcinoma, familial medullary 30.8 VHL RET MEN1
33 ganglioglioma 30.7 TSC2 TH NF1 CCND1
34 carney complex variant 30.7 SDHD SDHB RET NF1 MEN1
35 malignant pheochromocytoma 30.7 SDHD SDHC SDHB RET PNMT NF1
36 tuberous sclerosis 30.7 VHL VEGFA TSC2 PKD1 NF1
37 hereditary breast ovarian cancer syndrome 30.7 RET NF1 MEN1 FANCD2
38 multiple endocrine neoplasia, type i 30.7 VHL SDHD SDHC SDHB RET NF1
39 meningioma, familial 30.6 VEGFA RET NF1 MEN1 CCND1
40 polycystic kidney disease 30.6 VHL VEGFA TSC2 SP1 PKD1 HIF1A
41 paragangliomas 4 30.6 SDHD SDHB
42 duodenal somatostatinoma 30.6 NF1 MEN1
43 spinal cord disease 30.6 VEGFA TSC2 NF1
44 neurofibromatosis, type i 30.6 VHL TSC2 SDHD SDHC SDHB RET
45 gastrointestinal stromal tumor 30.5 VEGFA SDHD SDHC SDHB RET NF1
46 paragangliomas 1 30.5 SDHD SDHC SDHB
47 ganglioneuroma 30.4 TH RET PNMT
48 hereditary leiomyomatosis and renal cell cancer 30.3 SDHB HIF1A
49 neural crest tumor 30.2 SDHD SDHC SDHB
50 ewing sarcoma 30.2 SP1 NPY NF1 CCND1

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



Diseases related to Von Hippel-Lindau Syndrome

Symptoms & Phenotypes for Von Hippel-Lindau Syndrome

Human phenotypes related to Von Hippel-Lindau Syndrome:

58 30 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 58 30 Frequent (33%) Frequent (79-30%)
HP:0000822
2 renal cell carcinoma 58 30 Frequent (33%) Frequent (79-30%)
HP:0005584
3 elevated urinary catecholamines 58 30 Frequent (33%) Frequent (79-30%)
HP:0011976
4 adrenal pheochromocytoma 58 30 Frequent (33%) Frequent (79-30%)
HP:0006748
5 retinal capillary hemangioma 58 30 Frequent (33%) Frequent (79-30%)
HP:0009711
6 cerebellar hemangioblastoma 58 30 Frequent (33%) Frequent (79-30%)
HP:0006880
7 hyperhidrosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000975
8 anxiety 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000739
9 pallor 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000980
10 back pain 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003418
11 abdominal pain 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002027
12 vertigo 58 30 Very rare (1%) Occasional (29-5%)
HP:0002321
13 multiple renal cysts 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005562
14 stroke 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001297
15 headache 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002315
16 distal lower limb muscle weakness 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009053
17 pancreatic cysts 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001737
18 cardiomyopathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001638
19 visual loss 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000572
20 upper limb muscle weakness 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003484
21 limb pain 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009763
22 papillary cystadenoma of the epididymis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009715
23 palpitations 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001962
24 macular edema 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0040049
25 papilledema 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001085
26 hypertensive retinopathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001095
27 pancreatic islet cell adenoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008261
28 elevated circulating catecholamine level 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003334
29 endolymphatic sac tumor 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030393
30 abnormal left ventricular function 30 Occasional (7.5%) HP:0005162
31 increased intracranial pressure 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002516
32 myocardial infarction 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001658
33 retinal detachment 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000541
34 myocarditis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0012819
35 polycythemia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001901
36 paraganglioma 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002668
37 epididymal cyst 58 30 Very rare (1%) Very rare (<4-1%)
HP:0030424
38 sensorineural hearing impairment 30 Very rare (1%) HP:0000407
39 tinnitus 30 Very rare (1%) HP:0000360
40 neoplasm of the pancreas 58 30 Very rare (<4-1%)
HP:0002894
41 arrhythmia 58 Occasional (29-5%)
42 abnormality of the eye 58 Very frequent (99-80%)
43 pheochromocytoma 30 HP:0002666
44 pancreatic endocrine tumor 58 Occasional (29-5%)
45 left ventricular dysfunction 58 Occasional (29-5%)
46 spinal hemangioblastoma 30 HP:0009713
47 hepatic hemangioma 30 HP:0031207
48 pulmonary capillary hemangiomatosis 30 HP:0005954

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Endocrine Features:
hypertension
adrenal hemangiomas

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

Hematology:
polycythemia

Neurologic Central Nervous System:
cerebellar hemangioblastoma

Respiratory Lung:
pulmonary hemangiomas

Abdomen Pancreas:
multiple pancreatic cysts
pancreatic hemangioblastoma

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

Neoplasia:
pheochromocytoma
paraganglioma
pancreatic cancer
hemangioblastoma, sporadic cerebellar (e.g., )
hypernephroma
more
Genitourinary Internal Genitalia Male:
epididymal cyst
bilateral papillary cystadenoma of the epididymis
bilateral papillary cystadenomas of the broad ligament

Head And Neck Eyes:
retinal angiomata

Abdomen Liver:
liver hemangiomas

Neurologic Peripheral Nervous System:
spinal cord hemangioblastoma

Clinical features from OMIM®:

193300 (Updated 08-Dec-2022)

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 (show top 50) (show all 52)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.17 HIF1A
2 Increased shRNA abundance (Z-score > 2) GR00366-A-102 10.17 TSC2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-104 10.17 SDHC
4 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.17 FANCD2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-106 10.17 SP1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-107 10.17 FANCD2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-112 10.17 FANCD2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.17 FANCD2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-127 10.17 TSC2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-130 10.17 RET
11 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10.17 SDHC TSC2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-142 10.17 SDHC
13 Increased shRNA abundance (Z-score > 2) GR00366-A-145 10.17 HIF1A
14 Increased shRNA abundance (Z-score > 2) GR00366-A-153 10.17 SDHC SP1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.17 HIF1A
16 Increased shRNA abundance (Z-score > 2) GR00366-A-174 10.17 HIF1A
17 Increased shRNA abundance (Z-score > 2) GR00366-A-175 10.17 SP1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.17 FANCD2 RET
19 Increased shRNA abundance (Z-score > 2) GR00366-A-180 10.17 FANCD2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-182 10.17 HIF1A
21 Increased shRNA abundance (Z-score > 2) GR00366-A-185 10.17 HIF1A
22 Increased shRNA abundance (Z-score > 2) GR00366-A-188 10.17 SDHC
23 Increased shRNA abundance (Z-score > 2) GR00366-A-189 10.17 VHL
24 Increased shRNA abundance (Z-score > 2) GR00366-A-197 10.17 SDHC
25 Increased shRNA abundance (Z-score > 2) GR00366-A-199 10.17 HIF1A
26 Increased shRNA abundance (Z-score > 2) GR00366-A-20 10.17 FANCD2
27 Increased shRNA abundance (Z-score > 2) GR00366-A-200 10.17 FANCD2 ELOB SP1 VHL
28 Increased shRNA abundance (Z-score > 2) GR00366-A-204 10.17 HIF1A
29 Increased shRNA abundance (Z-score > 2) GR00366-A-207 10.17 TSC2
30 Increased shRNA abundance (Z-score > 2) GR00366-A-211 10.17 ELOB
31 Increased shRNA abundance (Z-score > 2) GR00366-A-213 10.17 RET ELOB
32 Increased shRNA abundance (Z-score > 2) GR00366-A-28 10.17 RET
33 Increased shRNA abundance (Z-score > 2) GR00366-A-36 10.17 ELOB
34 Increased shRNA abundance (Z-score > 2) GR00366-A-39 10.17 ELOB
35 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.17 SP1
36 Increased shRNA abundance (Z-score > 2) GR00366-A-46 10.17 FANCD2
37 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.17 FANCD2
38 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.17 RET
39 Increased shRNA abundance (Z-score > 2) GR00366-A-55 10.17 SDHC TSC2
40 Increased shRNA abundance (Z-score > 2) GR00366-A-56 10.17 ELOB
41 Increased shRNA abundance (Z-score > 2) GR00366-A-60 10.17 RET
42 Increased shRNA abundance (Z-score > 2) GR00366-A-62 10.17 TSC2 ELOB
43 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.17 SDHC HIF1A
44 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.17 RET
45 Increased shRNA abundance (Z-score > 2) GR00366-A-77 10.17 HIF1A
46 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.17 SP1
47 Increased shRNA abundance (Z-score > 2) GR00366-A-83 10.17 VHL
48 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.17 RET
49 Increased shRNA abundance (Z-score > 2) GR00366-A-91 10.17 SP1
50 Increased shRNA abundance (Z-score > 2) GR00366-A-92 10.17 TSC2

MGI Mouse Phenotypes related to Von Hippel-Lindau Syndrome:

45 (show all 21)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.47 CCND1 FANCD2 HIF1A MEN1 NF1 NPY
2 neoplasm MP:0002006 10.44 CCND1 FANCD2 HIF1A MEN1 NF1 PKD1
3 normal MP:0002873 10.44 CCND1 HIF1A MEN1 NF1 NPY PKD1
4 nervous system MP:0003631 10.4 CCND1 FANCD2 HIF1A MEN1 NF1 NPY
5 growth/size/body region MP:0005378 10.4 CCND1 FANCD2 HIF1A MEN1 NF1 NPY
6 endocrine/exocrine gland MP:0005379 10.32 CCND1 FANCD2 HIF1A MEN1 NF1 PKD1
7 cellular MP:0005384 10.28 CCND1 FANCD2 HIF1A MEN1 NF1 PKD1
8 renal/urinary system MP:0005367 10.27 HIF1A NF1 NPY PKD1 RET SDHB
9 liver/biliary system MP:0005370 10.26 HIF1A MEN1 NF1 NPY PKD1 SP1
10 cardiovascular system MP:0005385 10.22 CCND1 HIF1A MEN1 NF1 PKD1 PNMT
11 embryo MP:0005380 10.19 HIF1A MEN1 NF1 PKD1 RET SDHD
12 behavior/neurological MP:0005386 10.18 CCND1 FANCD2 HIF1A MEN1 NF1 NPY
13 muscle MP:0005369 10.17 HIF1A MEN1 NF1 PKD1 RET SDHC
14 limbs/digits/tail MP:0005371 10.15 FANCD2 HIF1A NF1 PKD1 RET SP1
15 digestive/alimentary MP:0005381 10.13 CCND1 HIF1A MEN1 NF1 NPY PKD1
16 craniofacial MP:0005382 10.06 CCND1 HIF1A MEN1 NF1 PKD1 SP1
17 respiratory system MP:0005388 9.97 CCND1 HIF1A MEN1 NF1 PKD1 RET
18 hematopoietic system MP:0005397 9.97 CCND1 FANCD2 HIF1A NF1 PKD1 RET
19 skeleton MP:0005390 9.96 CCND1 HIF1A MEN1 NF1 NPY PKD1
20 mortality/aging MP:0010768 9.86 CCND1 CUL2 FANCD2 HIF1A MEN1 NF1
21 integument MP:0010771 9.28 CCND1 HIF1A NF1 PKD1 SP1 TH

Drugs & Therapeutics for Von Hippel-Lindau Syndrome

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

(show all 35)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ranibizumab Approved Phase 1, Phase 2 347396-82-1
2
Somatostatin Approved, Investigational Phase 2 38916-34-6, 51110-01-1 53481605 16129706
3
Sunitinib Approved, Investigational Phase 1, Phase 2 557795-19-4 5329102
4
Pancrelipase Approved, Investigational Phase 2 53608-75-6 8519
5
Vatalanib Investigational Phase 2 212141-54-3 151194
6 Fluorodeoxyglucose F18 Phase 2
7 Pharmaceutical Solutions Phase 2
8 Angiogenesis Inhibitors Phase 1, Phase 2
9 Protein Kinase Inhibitors Phase 1, Phase 2
10 Pancreatin Phase 2
11
Histidine Investigational, Nutraceutical Phase 1, Phase 2 71-00-1 6274
12
Vorinostat Approved, Investigational Phase 1 149647-78-9 5311
13 Histone Deacetylase Inhibitors Phase 1
14 Immunoglobulins Phase 1
15 Antibodies, Monoclonal Phase 1
16 Antibodies Phase 1
17
Propranolol Approved, Investigational 318-98-9, 525-66-6 62882 4946
18
Bevacizumab Approved, Investigational Early Phase 1 216974-75-3 135329020
19
Octreotide Approved, Investigational Early Phase 1 83150-76-9 383414 6400441
20
D-Phenylalanine Approved, Experimental, Investigational, Nutraceutical Early Phase 1 63-91-2, 673-06-3 6140 71567
21 89Zr-bevacizumab
22 Endothelial Growth Factors
23 Mitogens
24 Adrenergic beta-Antagonists
25 Adrenergic Antagonists
26 Neurotransmitter Agents
27 Adrenergic Agents
28 Anti-Arrhythmia Agents
29 Antihypertensive Agents
30 Vasodilator Agents
31 Radiopharmaceuticals Early Phase 1
32 Antineoplastic Agents, Immunological Early Phase 1
33 Antineoplastic Agents, Hormonal Early Phase 1
34
Edotreotide Early Phase 1 23724894
35 Gastrointestinal Agents Early Phase 1

Interventional clinical trials:

(show all 38)
# Name Status NCT ID Phase Drugs
1 A Phase II Study of 17-Allylamino-17-Demethoxygeldanamycin in Patients With Von Hippel Lindau Disease and Renal Tumors Completed NCT00088374 Phase 2 17 allylamino-17-demethoxygeldanamycin;18 FDG (Fludeoxyglucose 18F);[15-O] H2O;EPL diluent
2 A Phase 2 Study of ZD6474 (Vandetanib) in Patients With Von Hippel Lindau Disease and Renal Tumors Completed NCT00566995 Phase 2 ZACTIMA (Vandetanib) (ZD6474)
3 A Phase II Open-Label Study of Oral, Continuous, Once Daily PTK787/ZK 222584 in Patients With Von Hippel-Lindau Disease (VHL) and Hemangioblastoma (HB) Completed NCT00052013 Phase 2 PTK787/ZK 222584
4 A Phase I/II Trial for Intravitreous Treatment of Severe Ocular Von Hippel-Lindau Disease Using a Combination of the PDGF Antagonist E10030 and the VEGF Antagonist Ranibizumab Completed NCT02859441 Phase 1, Phase 2 Ranibizumab;E10030
5 Treatment of Exudative and Vasogenic Chorioretinal Diseases Including Variants of AMD and Other CNV Related Maculopathy With Intravitreal Injection of Lucentis (Ranibizumab Injection) Completed NCT00470977 Phase 1, Phase 2 ranibizumab injection (0.5 mg)
6 A Single-arm, Phase II Study of Sunitinib in Patients With Von Hippel-Lindau (VHL) Disease Completed NCT01168440 Phase 2 Sunitinib
7 Evaluation of (68)Gallium- DOTATATE PET/CT for Detecting Primary and Metastatic Neuroendocrine Tumors Completed NCT01967537 Phase 2 68Gallium DOTATATE
8 Evaluation of the Natural History and Management of Von Hippel-Lindau (VHL) Associated Pancreatic Neuroendocrine Tumors Recruiting NCT04074135 Phase 2 68-Gallium DOTATATE
9 A Phase 2 Study to Evaluate the Efficacy and Safety of Belzutifan (MK-6482, Formerly PT2977) Monotherapy in Participants With Advanced Pheochromocytoma/Paraganglioma (PPGL), Pancreatic Neuroendocrine Tumor (pNET), or Von Hippel-Lindau (VHL) Disease-Associated Tumors Recruiting NCT04924075 Phase 2 Belzutifan
10 Double-Center Cross-Sectional Study of Contrast-Enhanced Ultrasound With Lumason/Definity as a Screening Tool for Kidney Cancer in Patients With Von-Hippel Lindau Recruiting NCT03907657 Phase 2 Perflutren lipid microsphere;Sulfur hexafluoride lipid microspheres
11 An Open Label Phase 2 Study to Evaluate PT2385 for the Treatment of Von Hippel-Lindau Disease-Associated Clear Cell Renal Cell Carcinoma Active, not recruiting NCT03108066 Phase 2 PT2385 Tablets
12 An Open-Label Phase 2 Study to Evaluate PT2977 for the Treatment of Von Hippel Lindau Disease-Associated Renal Cell Carcinoma Active, not recruiting NCT03401788 Phase 2 Belzutifan
13 A Phase II Trial of Pazopanib in Von Hippel-Lindau Syndrome Active, not recruiting NCT01436227 Phase 2 Pazopanib Hydrochloride
14 Pilot Study of Sunitinib Malate for Advanced Ocular Disease of Von Hippel-Lindau Syndrome Terminated NCT00673816 Phase 1, Phase 2 Sunitinib Malate
15 A Phase 2 Study of SU011248 (Sunitinib Malate) in Von Hippel-Lindau Syndrome Terminated NCT00330564 Phase 2 SU011248
16 A Pilot Trial of TKI 258 (Dovitinib) in Von Hippel-Lindau Syndrome Terminated NCT01266070 Phase 2 Dovitinib
17 Pilot Study of the Effect of Vorinostat on Nervous System Hemangioblastomas In Von Hippel-Lindau Disease Completed NCT02108002 Phase 1 Vorinostat
18 Pilot Study of Intravitreal Injection of Ranibizumab (rhuFAB V2) for Advanced Ocular Disease of Von Hippel-Lindau (VHL) Disease Completed NCT00089765 Phase 1 Ranibizumab
19 Pilot Study of Intravitreal Injection of EYE001 (Anti-VEGF Pegylated Aptamer) for Advanced Ocular Disease of Von Hippel-Lindau (VHL) Disease Completed NCT00056199 Phase 1 EYE001
20 Drivers of Hypoxia-induced Angiogenesis in Tumor Development Unknown status NCT03979833
21 Assessment of Residual VHL Function in Tumors - Can it Predict the Patients' Individual Course of Disease? Unknown status NCT02207686
22 Visualizing VEGF Producing Lesions in Von Hippel-Lindau Disease Completed NCT00970970
23 Evaluation of the Natural History and Management of Pancreatic Lesions Associated With Von Hippel-Lindau Completed NCT00062166
24 Genetic Mutation Analysis In A VHL Population Completed NCT00075348
25 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
26 MyVHL: Patient Natural History Study Recruiting NCT03749980
27 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
28 An International Collaborative Study: Screening for Endolymphatic Sac Tumours (ELSTs) in Von Hippel-Lindau (vHL) Patients Recruiting NCT02420067
29 Von Hippel-Lindau (VHL): Clinical Manifestations, Diagnosis, Management and Molecular Bases of Inherited Renal and Other Urologic Malignant Disorders Recruiting NCT00001238
30 NEI Intramural Biorepository for Retinal Diseases Recruiting NCT01496625
31 Retrospective Case Series of Trans-scleral Cryotherapy for Retinal Hemangioblastoma Active, not recruiting NCT04458935
32 A Prospective Natural History Study of VHL Patients With CNS Hemangioblastomas Active, not recruiting NCT00005902
33 Electromagnetic Tracking of Devices During Interventional Procedures Enrolling by invitation NCT00102544
34 Efficacy of Propranolol for the Treatment of Central Nervous System Hemangioblastomas in Von Hippel-Lindau Disease: a Randomized Controlled Clinical Trial Not yet recruiting NCT05424016 Propranolol
35 Frequency, Clinical Phenotype and Genetic Analysis of Heritable Kidney Cancer Syndromes Not yet recruiting NCT05534854
36 D0904 - A Pilot Study of Bevacizumab (Avastin) in Patients With Unresectable or Recurrent Hemangioblastoma From Von Hippel-Lindau Disease. Terminated NCT01015300 Early Phase 1 Avastin
37 Von Hippel-Lindau (VHL) Disease Genetic Epidemiology Study Terminated NCT00001803
38 An Expanded Access Imaging of Neuroendocrine Tumors Using 68Ga-DOTA-TOC Terminated NCT03001349 Early Phase 1 Gallium Ga 68-Edotreotide

Search NIH Clinical Center for Von Hippel-Lindau Syndrome

Cochrane evidence based reviews: von hippel-lindau disease

Genetic Tests for Von Hippel-Lindau Syndrome

Genetic tests related to Von Hippel-Lindau Syndrome:

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

Anatomical Context for Von Hippel-Lindau Syndrome

Organs/tissues related to Von Hippel-Lindau Syndrome:

MalaCards : Spinal Cord, Pancreas, Kidney, Eye, Brain, Retina, Liver
ODiseA: Blood And Bone Marrow, Respiratory System-Lung, Respiratory System, Kidney

Publications for Von Hippel-Lindau Syndrome

Articles related to Von Hippel-Lindau Syndrome:

(show top 50) (show all 3134)
# Title Authors PMID Year
1
Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease. 62 24 57 5
29891534 2018
2
Genetic analysis of von Hippel-Lindau disease. 62 24 57 5
20151405 2010
3
Genotype-phenotype correlations in VHL exon deletions. 62 24 57 5
19764026 2009
4
Functioning carotid paraganglioma in the von Hippel-Lindau syndrome. 62 24 57 5
9880225 1998
5
Genotype and phenotype correlation in von Hippel-Lindau disease based on alteration of the HIF-α binding site in VHL protein. 62 57 5
29595810 2018
6
Family history of von Hippel-Lindau disease was uncommon in Chinese patients: suggesting the higher frequency of de novo mutations in VHL gene in these patients. 62 57 5
22357542 2012
7
Germline mutations in the von Hippel-Lindau gene in Italian patients. 62 57 5
19464396 2009
8
Alu-Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients. 62 57 5
19280651 2009
9
Genotype-phenotype correlations in von Hippel-Lindau disease. 62 57 5
17024664 2007
10
Renal cell carcinoma risk in type 2 von Hippel-Lindau disease correlates with defects in pVHL stability and HIF-1alpha interactions. 53 62 24 5
16261165 2006
11
Genetic and functional analysis of the von Hippel-Lindau (VHL) tumour suppressor gene promoter. 62 57 5
12114475 2002
12
Mosaicism in von Hippel-Lindau disease: lessons from kindreds with germline mutations identified in offspring with mosaic parents. 53 62 24 57
10631138 2000
13
A family with hydrocephalus as a complication of cerebellar hemangioblastoma: identification of Pro157Leu mutation in the VHL gene. 62 57 5
10697963 2000
14
Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. 62 57 5
9829911 1998
15
Functioning thoracic paraganglioma: association with Von Hippel-Lindau syndrome. 62 57 5
9329368 1997
16
Genotype-phenotype correlation in von Hippel-Lindau disease: identification of a mutation associated with VHL type 2A. 62 57 5
8863170 1996
17
Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. 62 57 5
8956040 1996
18
Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. 62 57 5
7728151 1995
19
Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype. 62 57 5
7987306 1994
20
Detailed mapping of germline deletions of the von Hippel-Lindau disease tumour suppressor gene. 62 57 5
8069305 1994
21
Molecular genetic investigations of the mechanism of tumourigenesis in von Hippel-Lindau disease: analysis of allele loss in VHL tumours. 62 57 5
8270255 1994
22
Three-decade investigation of familial pheochromocytoma. An allele of von Hippel-Lindau disease? 62 57 5
8239848 1993
23
Identification of the von Hippel-Lindau disease tumor suppressor gene. 62 57 5
8493574 1993
24
Preventive medicine of von Hippel-Lindau disease-associated pancreatic neuroendocrine tumors. 62 24 5
29748190 2018
25
Von Hippel-Lindau disease: an evaluation of natural history and functional disability. 62 24 5
26763786 2016
26
Mosaicism in von Hippel-Lindau disease with severe renal manifestations. 62 24 5
23384228 2013
27
Surgical resection of endolymphatic sac tumors in von Hippel-Lindau disease: findings, results, and indications. 62 24 5
23070752 2013
28
Pilot trial of sunitinib therapy in patients with von Hippel-Lindau disease. 62 24 5
22105611 2011
29
Functional and oncologic outcomes of partial adrenalectomy for pheochromocytoma in patients with von Hippel-Lindau syndrome after at least 5 years of followup. 62 24 5
20846682 2010
30
Mosaicism in von Hippel-Lindau disease: an event important to recognize. 62 24 5
18205710 2007
31
Congenital disorder of oxygen sensing: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors. 62 24 5
14726398 2004
32
Salvage external beam radiotherapy of retinal capillary hemangiomas secondary to von Hippel-Lindau disease: visual and anatomic outcomes. 62 24 57
14711727 2004
33
Solid renal tumor severity in von Hippel Lindau disease is related to germline deletion length and location. 62 24 57
14695531 2004
34
Tat-binding protein-1, a component of the 26S proteasome, contributes to the E3 ubiquitin ligase function of the von Hippel-Lindau protein. 57 5
14556007 2003
35
Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia. 62 24 5
12844285 2003
36
VHL2C phenotype in a German von Hippel-Lindau family with concurrent VHL germline mutations P81S and L188V. 62 24 5
12414898 2002
37
Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study. 62 24 5
12202531 2002
38
von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF. 57 5
11331612 2001
39
Genotype-phenotype correlations in families with deletions in the von Hippel-Lindau (VHL) gene. 57 5
10830910 2000
40
Two distinct phenotypes caused by two different missense mutations in the same codon of the VHL gene. 57 5
10533030 1999
41
Clinical characteristics of ocular angiomatosis in von Hippel-Lindau disease and correlation with germline mutation. 62 24 5
10088816 1999
42
Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC. 57 5
10408776 1999
43
Von Hippel-Lindau (VHL) disease with pheochromocytoma in the Black Forest region of Germany: evidence for a founder effect. 57 5
7759077 1995
44
Von Hippel-Lindau disease: a genetic study. 62 24 57
1895313 1991
45
Familial pheochromocytoma. 57 5
13985160 1962
46
Risk of new tumors in von Hippel-Lindau patients depends on age and genotype. 24 57
25834951 2016
47
VHL mosaicism can be detected by clinical next-generation sequencing and is not restricted to patients with a mild phenotype. 24 5
24301059 2014
48
Calculating optimal surveillance for detection of von Hippel-Lindau-related manifestations. 24 5
24132471 2014
49
Local-regional recurrence of sporadic or syndromic abdominal extra-adrenal paraganglioma: incidence, characteristics, and outcome. 53 62 5
19958924 2009
50
Denaturing high performance liquid chromatography detection of SDHB, SDHD, and VHL germline mutations in pheochromocytoma. 53 62 5
19215943 2009

Variations for Von Hippel-Lindau Syndrome

ClinVar genetic disease variations for Von Hippel-Lindau Syndrome:

5 (show top 50) (show all 1395)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 VHL NM_000551.4(VHL):c.263G>C (p.Trp88Ser) SNV Pathogenic
2220 rs119103277 GRCh37: 3:10183794-10183794
GRCh38: 3:10142110-10142110
2 LOC107303340, VHL NM_000551.4(VHL):c.405A>C (p.Leu135Phe) SNV Pathogenic
2221 rs119103278 GRCh37: 3:10188262-10188262
GRCh38: 3:10146578-10146578
3 VHL NM_000551.4(VHL):c.334T>A (p.Tyr112Asn) SNV Pathogenic
2228 rs104893824 GRCh37: 3:10183865-10183865
GRCh38: 3:10142181-10142181
4 LOC107303340, VHL NM_000551.4(VHL):c.408del (p.Phe136fs) DEL Pathogenic
43601 rs397516442 GRCh37: 3:10188263-10188263
GRCh38: 3:10146579-10146579
5 LOC107303340, VHL NM_000551.4(VHL):c.464-1G>A SNV Pathogenic
Pathogenic
43603 rs5030817 GRCh37: 3:10191470-10191470
GRCh38: 3:10149786-10149786
6 LOC107303340, VHL NM_000551.4(VHL):c.485G>T (p.Cys162Phe) SNV Pathogenic
43604 rs397516444 GRCh37: 3:10191492-10191492
GRCh38: 3:10149808-10149808
7 LOC107303340, VHL NM_000551.3(VHL):c.(?_464)_642+?del DEL Pathogenic
177805 GRCh37: 3:10191471-10191649
GRCh38: 3:10149787-10149965
8 VHL NM_000551.4(VHL):c.245G>C (p.Arg82Pro) SNV Pathogenic
193118 rs794726890 GRCh37: 3:10183776-10183776
GRCh38: 3:10142092-10142092
9 LOC107303340, VHL NM_000551.4(VHL):c.586A>T (p.Lys196Ter) SNV Pathogenic
196284 rs281860296 GRCh37: 3:10191593-10191593
GRCh38: 3:10149909-10149909
10 VHL NM_000551.4(VHL):c.194C>T (p.Ser65Leu) SNV Pathogenic
Pathogenic
182975 rs5030826 GRCh37: 3:10183725-10183725
GRCh38: 3:10142041-10142041
11 VHL NM_000551.4(VHL):c.258del (p.Val87fs) DEL Pathogenic
Pathogenic
220487 rs864622545 GRCh37: 3:10183787-10183787
GRCh38: 3:10142103-10142103
12 VHL NM_000551.4(VHL):c.337C>T (p.Arg113Ter) SNV Pathogenic
Pathogenic
220414 rs5030810 GRCh37: 3:10183868-10183868
GRCh38: 3:10142184-10142184
13 LOC107303340, VHL NM_000551.4(VHL):c.341-2A>G SNV Pathogenic
Pathogenic
223194 rs869025637 GRCh37: 3:10188196-10188196
GRCh38: 3:10146512-10146512
14 LOC107303340, VHL NM_000551.4(VHL):c.351del (p.Trp117fs) DEL Pathogenic
223197 rs869025640 GRCh37: 3:10188207-10188207
GRCh38: 3:10146523-10146523
15 VHL NM_000551.4(VHL):c.293dup (p.Tyr98Ter) DUP Pathogenic
223177 rs869025624 GRCh37: 3:10183823-10183824
GRCh38: 3:10142139-10142140
16 LOC107303340, VHL NM_000551.4(VHL):c.431del (p.Gly144fs) DEL Pathogenic
223209 rs869025651 GRCh37: 3:10188287-10188287
GRCh38: 3:10146603-10146603
17 LOC107303340, VHL NM_000551.4(VHL):c.444del (p.Phe148fs) DEL Pathogenic
Pathogenic
223212 rs869025653 GRCh37: 3:10188297-10188297
GRCh38: 3:10146613-10146613
18 LOC107303340, VHL NM_000551.4(VHL):c.463+1G>C SNV Pathogenic
223217 rs869025657 GRCh37: 3:10188321-10188321
GRCh38: 3:10146637-10146637
19 VHL NM_000551.4(VHL):c.309del (p.Gly104fs) DEL Pathogenic
223180 rs869025627 GRCh37: 3:10183840-10183840
GRCh38: 3:10142156-10142156
20 LOC107303340, VHL NM_000551.4(VHL):c.374_375del (p.His125fs) MICROSAT Pathogenic
Pathogenic
223202 rs869025644 GRCh37: 3:10188227-10188228
GRCh38: 3:10146543-10146544
21 VHL NM_000551.4(VHL):c.217C>T (p.Gln73Ter) SNV Pathogenic
Pathogenic
223164 rs869025619 GRCh37: 3:10183748-10183748
GRCh38: 3:10142064-10142064
22 LOC107303340, VHL NM_000551.4(VHL):c.419_420del (p.Leu140fs) MICROSAT Pathogenic
Pathogenic
223207 rs869025649 GRCh37: 3:10188272-10188273
GRCh38: 3:10146588-10146589
23 VHL NM_000551.4(VHL):c.335_340+5del DEL Pathogenic
223188 rs869025632 GRCh37: 3:10183866-10183876
GRCh38: 3:10142182-10142192
24 LOC107303340, VHL NM_000551.4(VHL):c.435_436del (p.Gln145fs) DEL Pathogenic
Pathogenic
223210 rs869025652 GRCh37: 3:10188292-10188293
GRCh38: 3:10146608-10146609
25 VHL NM_000551.4(VHL):c.340+1G>A SNV Pathogenic
Pathogenic
223190 rs730882032 GRCh37: 3:10183872-10183872
GRCh38: 3:10142188-10142188
26 VHL NM_000551.4(VHL):c.203C>A (p.Ser68Ter) SNV Pathogenic
Pathogenic
223162 rs869025617 GRCh37: 3:10183734-10183734
GRCh38: 3:10142050-10142050
27 LOC107303340, VHL NM_000551.4(VHL):c.402del (p.Glu134fs) DEL Pathogenic
223204 rs869025646 GRCh37: 3:10188258-10188258
GRCh38: 3:10146574-10146574
28 VHL NM_000551.4(VHL):c.296dup (p.Thr100fs) DUP Pathogenic
223178 rs869025625 GRCh37: 3:10183824-10183825
GRCh38: 3:10142140-10142141
29 VHL NM_000551.4(VHL):c.309dup (p.Gly104fs) DUP Pathogenic
223181 rs869025628 GRCh37: 3:10183839-10183840
GRCh38: 3:10142155-10142156
30 VHL NM_000551.4(VHL):c.233A>T (p.Asn78Ile) SNV Pathogenic
Likely Pathogenic
223169 rs5030804 GRCh37: 3:10183764-10183764
GRCh38: 3:10142080-10142080
31 LOC107303340, VHL NM_000551.4(VHL):c.452T>G (p.Ile151Ser) SNV Pathogenic
223215 rs869025655 GRCh37: 3:10188309-10188309
GRCh38: 3:10146625-10146625
32 LOC107303340, VHL NM_000551.4(VHL):c.464-1G>C SNV Pathogenic
223220 rs5030817 GRCh37: 3:10191470-10191470
GRCh38: 3:10149786-10149786
33 VHL NM_000551.4(VHL):c.163dup (p.Glu55fs) DUP Pathogenic
Pathogenic
223159 rs869025615 GRCh37: 3:10183692-10183693
GRCh38: 3:10142008-10142009
34 LOC107303340, VHL NM_000551.4(VHL):c.362A>G (p.Asp121Gly) SNV Pathogenic
Likely Pathogenic
223200 rs5030832 GRCh37: 3:10188219-10188219
GRCh38: 3:10146535-10146535
35 VHL NM_000551.4(VHL):c.194C>A (p.Ser65Ter) SNV Pathogenic
Pathogenic
223161 rs5030826 GRCh37: 3:10183725-10183725
GRCh38: 3:10142041-10142041
36 VHL NM_000551.4(VHL):c.189_192del (p.Arg64_Ser65insTer) DEL Pathogenic
223205 rs869025647 GRCh37: 3:10183720-10183723
GRCh38: 3:10142036-10142039
37 VHL NM_000551.4(VHL):c.332G>A (p.Ser111Asn) SNV Pathogenic
223186 rs869025631 GRCh37: 3:10183863-10183863
GRCh38: 3:10142179-10142179
38 LOC107303340, VHL NM_000551.4(VHL):c.444dup (p.Ala149fs) DUP Pathogenic
223211 rs869025653 GRCh37: 3:10188296-10188297
GRCh38: 3:10146612-10146613
39 VHL NM_000551.4(VHL):c.340+2_340+6del DEL Pathogenic
223191 rs869025634 GRCh37: 3:10183871-10183875
GRCh38: 3:10142187-10142191
40 VHL NM_000551.4(VHL):c.269del (p.Asn90fs) DEL Pathogenic
223173 rs869025623 GRCh37: 3:10183799-10183799
GRCh38: 3:10142115-10142115
41 VHL NM_000551.4(VHL):c.340G>C (p.Gly114Arg) SNV Pathogenic
223193 rs869025636 GRCh37: 3:10183871-10183871
GRCh38: 3:10142187-10142187
42 VHL NM_000551.4(VHL):c.277G>T (p.Gly93Cys) SNV Pathogenic
223175 rs5030808 GRCh37: 3:10183808-10183808
GRCh38: 3:10142124-10142124
43 VHL NM_000551.4(VHL):c.221del (p.Val74fs) DEL Pathogenic
223165 rs869025620 GRCh37: 3:10183752-10183752
GRCh38: 3:10142068-10142068
44 LOC107303340, VHL NM_000551.4(VHL):c.352_353insA (p.Leu118fs) INSERT Pathogenic
Pathogenic
223198 rs869025641 GRCh37: 3:10188209-10188210
GRCh38: 3:10146525-10146526
45 VHL NM_000551.4(VHL):c.300dup (p.Leu101fs) DUP Pathogenic
223179 rs869025626 GRCh37: 3:10183830-10183831
GRCh38: 3:10142146-10142147
46 LOC107303340, VHL NM_000551.4(VHL):c.374A>C (p.His125Pro) SNV Pathogenic
223201 rs869025643 GRCh37: 3:10188231-10188231
GRCh38: 3:10146547-10146547
47 LOC107303340, VHL NM_000551.4(VHL):c.470C>T (p.Thr157Ile) SNV Pathogenic
223223 rs869025660 GRCh37: 3:10191477-10191477
GRCh38: 3:10149793-10149793
48 LOC107303340, VHL NM_000551.4(VHL):c.548C>A (p.Ser183Ter) SNV Pathogenic
Pathogenic
2215 rs5030823 GRCh37: 3:10191555-10191555
GRCh38: 3:10149871-10149871
49 LOC107303340, VHL NM_000551.4(VHL):c.464-1G>T SNV Pathogenic
Pathogenic
223221 rs5030817 GRCh37: 3:10191470-10191470
GRCh38: 3:10149786-10149786
50 overlap with 2 genes NC_000003.12:g.(?_10141635)_(10153670_?)del DEL Pathogenic
417800 GRCh37:
GRCh38: 3:10141635-10153670

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

73 (show top 50) (show all 104)
# Symbol AA change Variation ID SNP ID
1 VHL p.Ser38Pro VAR_005670
2 VHL p.Glu52Lys VAR_005671 rs373068386
3 VHL p.Ser65Leu VAR_005672 rs5030826
4 VHL p.Ser65Trp VAR_005673 rs5030826
5 VHL p.Ser68Trp VAR_005675
6 VHL p.Glu70Lys VAR_005676 rs5030802
7 VHL p.Val74Gly VAR_005677 rs5030803
8 VHL p.Phe76Ile VAR_005679 rs1559425911
9 VHL p.Phe76Leu VAR_005680
10 VHL p.Phe76Ser VAR_005681 rs730882033
11 VHL p.Asn78His VAR_005682 rs869025621
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 rs786202787
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 rs1553619431
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 rs1553619440
30 VHL p.Gly93Ser VAR_005705 rs5030808
31 VHL p.Gln96Pro VAR_005706 rs1559426089
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 rs1553619461
36 VHL p.Arg107Pro VAR_005713 rs193922609
37 VHL p.Ser111Cys VAR_005714 rs1559426203
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 rs869025636
44 VHL p.His115Tyr VAR_005722 rs5030811
45 VHL p.His115Gln VAR_005723 rs864622646
46 VHL p.Leu116Val VAR_005724
47 VHL p.Trp117Cys VAR_005725 rs727504215
48 VHL p.Leu118Pro VAR_005726 rs5030830
49 VHL p.Leu118Arg VAR_005727 rs5030830
50 VHL p.Phe119Leu VAR_005728 rs1553619948

Cosmic variations for Von Hippel-Lindau Syndrome:

8 (show top 50) (show all 6629)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM85360217 UMPS kidney,NS,carcinoma,renal cell c.528G>A p.L176= 3:124737785-124737785 14
2 COSM93517001 TRIO kidney,NS,carcinoma,renal cell c.1505A>G p.N502S 5:14508136-14508136 14
3 COSM143919608 TRIO kidney,NS,carcinoma,renal cell c.706-1273A>G p.? 5:14508136-14508136 14
4 COSM89062698 TRIO kidney,NS,carcinoma,renal cell c.9008A>G p.N3003S 5:14508136-14508136 14
5 COSM90865192 RNF144A kidney,NS,carcinoma,renal cell c.410C>T p.A137V 2:7020581-7020581 14
6 COSM94389604 RGS7 kidney,NS,carcinoma,renal cell c.169T>C p.F57L 1:241098672-241098672 14
7 COSM94442225 RGS7 kidney,NS,carcinoma,renal cell c.169T>C p.F57L 1:241098672-241098672 14
8 COSM94492333 RGS7 kidney,NS,carcinoma,renal cell c.169T>C p.F57L 1:241098672-241098672 14
9 COSM92824042 RGS7 kidney,NS,carcinoma,renal cell c.169T>C p.F57L 1:241098672-241098672 14
10 COSM94232725 RABGAP1 kidney,NS,carcinoma,renal cell c.1749T>A p.H583Q 9:123020414-123020414 14
11 COSM130825760 PTPN22 kidney,NS,carcinoma,renal cell c.209G>C p.R70P 1:113859066-113859066 14
12 COSM106795558 PTPN22 kidney,NS,carcinoma,renal cell c.209G>C p.R70P 1:113859066-113859066 14
13 COSM94057597 PTPN22 kidney,NS,carcinoma,renal cell c.209G>C p.R70P 1:113859066-113859066 14
14 COSM126664114 PTPN22 kidney,NS,carcinoma,renal cell c.209G>C p.R70P 1:113859066-113859066 14
15 COSM131800227 PTPN22 kidney,NS,carcinoma,renal cell c.209G>C p.R70P 1:113859066-113859066 14
16 COSM114430588 PTPN22 kidney,NS,carcinoma,renal cell c.209G>C p.R70P 1:113859066-113859066 14
17 COSM100863866 KMT2A kidney,NS,carcinoma,renal cell c.5711C>T p.A1904V 11:118497991-118497991 14
18 COSM129143197 KMT2A kidney,NS,carcinoma,renal cell c.5720C>T p.A1907V 11:118497991-118497991 14
19 COSM144159091 ITPR3 kidney,NS,carcinoma,renal cell c.4574G>T p.C1525F 6:33682621-33682621 14
20 COSM96915510 ITPR3 kidney,NS,carcinoma,renal cell c.4574G>T p.C1525F 6:33682621-33682621 14
21 COSM86472399 H2BC1 kidney,NS,carcinoma,renal cell c.239C>A p.S80* 6:25727147-25727147 14
22 COSM146087884 DOCK1 kidney,NS,carcinoma,renal cell c.1369G>T p.D457Y 10:127023241-127023241 14
23 COSM88845534 DOCK1 kidney,NS,carcinoma,renal cell c.1306G>T p.D436Y 10:127023241-127023241 14
24 COSM102230151 DDX19B kidney,NS,carcinoma,renal cell c.216G>A p.V72= 16:70325624-70325624 14
25 COSM137305195 DDX19B kidney,NS,carcinoma,renal cell c.558G>A p.V186= 16:70325624-70325624 14
26 COSM137613380 DDX19B kidney,NS,carcinoma,renal cell c.216G>A p.V72= 16:70325624-70325624 14
27 COSM136951592 DDX19B kidney,NS,carcinoma,renal cell c.216G>A p.V72= 16:70325624-70325624 14
28 COSM88298617 DDX19B kidney,NS,carcinoma,renal cell c.543G>A p.V181= 16:70325624-70325624 14
29 COSM92903161 DDX19B kidney,NS,carcinoma,renal cell c.450G>A p.V150= 16:70325624-70325624 14
30 COSM111962535 DDX19B kidney,NS,carcinoma,renal cell c.465G>A p.V155= 16:70325624-70325624 14
31 COSM125364846 COPS4 kidney,NS,carcinoma,renal cell c.385G>C p.G129R 4:83049959-83049959 14
32 COSM88086191 COPS4 kidney,NS,carcinoma,renal cell c.385G>C p.G129R 4:83049959-83049959 14
33 COSM120703070 COPS4 kidney,NS,carcinoma,renal cell c.385G>C p.G129R 4:83049959-83049959 14
34 COSM122317683 COPS4 kidney,NS,carcinoma,renal cell c.385G>C p.G129R 4:83049959-83049959 14
35 COSM95279694 CDC5L kidney,NS,carcinoma,renal cell c.1196G>A p.R399Q 6:44419552-44419552 14
36 COSM129930398 ARHGAP20 kidney,NS,carcinoma,renal cell c.1277A>G p.D426G 11:110586276-110586276 14
37 COSM128048829 ARHGAP20 kidney,NS,carcinoma,renal cell c.1247A>G p.D416G 11:110586276-110586276 14
38 COSM130426538 ARHGAP20 kidney,NS,carcinoma,renal cell c.-17A>G p.? 11:110586276-110586276 14
39 COSM127507491 ARHGAP20 kidney,NS,carcinoma,renal cell c.1286A>G p.D429G 11:110586276-110586276 14
40 COSM85547904 ARHGAP20 kidney,NS,carcinoma,renal cell c.1355A>G p.D452G 11:110586276-110586276 14
41 COSM128420528 ARHGAP20 kidney,NS,carcinoma,renal cell c.1247A>G p.D416G 11:110586276-110586276 14
42 COSM111167644 kidney,NS,carcinoma,renal cell c.160+10669G>A p.? 16:70325624-70325624 14
43 COSM143616890 ZNF804A kidney,NS,carcinoma,clear cell renal cell carcinoma c.2108A>C p.Q703P 2:184937759-184937759 11
44 COSM88579140 ZNF804A kidney,NS,carcinoma,clear cell renal cell carcinoma c.2363A>C p.Q788P 2:184937759-184937759 11
45 COSM88566796 ZNF804A kidney,NS,carcinoma,clear cell renal cell carcinoma c.121G>C p.E41Q 2:184866378-184866378 11
46 COSM143612455 ZNF804A kidney,NS,carcinoma,clear cell renal cell carcinoma c.-135G>C p.? 2:184866378-184866378 11
47 COSM100952565 ZNF800 kidney,NS,carcinoma,clear cell renal cell carcinoma c.719A>G p.N240S 7:127374617-127374617 11
48 COSM100946000 ZNF800 kidney,NS,carcinoma,clear cell renal cell carcinoma c.719A>G p.N240S 7:127374617-127374617 11
49 COSM85796182 ZNF800 kidney,NS,carcinoma,clear cell renal cell carcinoma c.719A>G p.N240S 7:127374617-127374617 11
50 COSM144685741 ZNF800 kidney,NS,carcinoma,clear cell renal cell carcinoma c.719A>G p.N240S 7:127374617-127374617 11

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

6
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 179185 3 8700000 11800000 Copy number VHL Von hippel-lindau syndrome

Expression for Von Hippel-Lindau Syndrome

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

Pathways for Von Hippel-Lindau Syndrome

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

(show all 27)
# Super pathways Score Top Affiliating Genes
1 13.62 CCND1 HIF1A MEN1 NF1 NPY RET
2 12.53 VEGFA TSC2 SP1 HIF1A CCND1
3 11.97 HIF1A RET SP1 TH VEGFA
4 11.92 VEGFA SP1 RET HIF1A
5 11.9 VEGFA TSC2 SP1 NF1 CCND1
6 11.86 VEGFA SP1 CCND1
7
Show member pathways
11.83 SDHD SDHC SDHB
8 11.82 VEGFA HIF1A CCND1
9
Show member pathways
11.72 SDHD SDHC SDHB
10 11.71 VHL VEGFA TSC2 HIF1A
11 11.62 CCND1 TSC2 VEGFA
12
Show member pathways
11.6 VEGFA SP1 HIF1A CCND1
13 11.57 TH SP1 HIF1A CCND1
14 11.56 VEGFA SP1 HIF1A
15 11.53 TSC2 SP1 CCND1
16 11.48 TH NF1 CCND1
17 11.45 VEGFA HIF1A CCND1
18 11.09 VHL VEGFA HIF1A ELOB CUL2
19 11.03 VHL VEGFA SP1 ELOB
20
Show member pathways
10.83 ELOB CUL2
21 10.83 VHL VEGFA
22 10.78 TSC2 TH
23 10.69 VHL HIF1A ELOB CUL2
24
Show member pathways
10.66 SDHD SDHC SDHB
25 10.63 VHL HIF1A
26 10.55 VHL VEGFA HIF1A ELOB CUL2
27
Show member pathways
10.54 VEGFA HIF1A

GO Terms for Von Hippel-Lindau Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 VCB complex GO:0030891 9.26 ELOB CUL2
2 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 9.1 SDHD SDHC SDHB

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 response to hypoxia GO:0001666 10.11 VEGFA TH NF1 HIF1A
2 cellular response to hypoxia GO:0071456 10.03 VHL VEGFA SDHD HIF1A
3 positive regulation of blood vessel endothelial cell migration GO:0043536 9.97 VEGFA SP1 HIF1A
4 lactation GO:0007595 9.95 VEGFA HIF1A CCND1
5 cerebral cortex development GO:0021987 9.86 TH NPY NF1 HIF1A
6 tricarboxylic acid cycle GO:0006099 9.85 SDHD SDHC SDHB
7 positive regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061419 9.76 VEGFA HIF1A
8 lymph vessel morphogenesis GO:0036303 9.62 VEGFA PKD1
9 catecholamine biosynthetic process GO:0042423 9.58 PNMT TH
10 epinephrine biosynthetic process GO:0042418 9.46 TH PNMT
11 camera-type eye morphogenesis GO:0048593 9.35 VEGFA NF1 HIF1A
12 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.1 SDHD SDHC SDHB

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

# Name GO ID Score Top Affiliating Genes
1 ubiquinone binding GO:0048039 9.26 SDHD SDHB
2 succinate dehydrogenase (ubiquinone) activity GO:0008177 8.92 SDHD SDHB

Sources for Von Hippel-Lindau Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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