MCID: VNH007
MIFTS: 65

Von Hippel-Lindau Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Cardiovascular diseases, Nephrological diseases, Endocrine diseases, Fetal diseases, Cancer diseases

Aliases & Classifications for Von Hippel-Lindau Syndrome

About this section
Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 51Orphanet, 67UniProtKB/Swiss-Prot, 65UMLS, 68Wikipedia, 46NINDS, 47Novoseek, 12DISEASES, 36MeSH, 24GTR, 35MedlinePlus, 27ICD10, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Von Hippel-Lindau Syndrome:

Name: Von Hippel-Lindau Syndrome 49 10 11 21 45 22 23 51 67 65
Von Hippel-Lindau Disease 10 68 21 45 22 23 46 47 12 51 67 36 24 35
Vhl Syndrome 68 21 45 22 23
Angiomatosis Retinae 68 22 23
Cerebelloretinal Angiomatosis, Familial 68 23
Hippel-Lindau Disease 68 23
 
Lindau Disease 22 51
Vhl 45 51
Von Hippel-Lindau Syndrome, Modifier of 49
Familial Cerebelloretinal Angiomatosis 51
Hippel Lindau Syndrome 10
Vhld 67

Characteristics:

Orphanet epidemiological data:

51
von hippel-lindau disease:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (United Kingdom); Age of onset: Adult; Age of death: elderly

HPO:

61
von hippel-lindau syndrome:
Onset and clinical course: phenotypic variability
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 193300
Disease Ontology10 DOID:14175
ICD1027 Q85.8
MeSH36 D006623
NCIt42 C3105
SNOMED-CT59 46659004
Orphanet51 892
ICD10 via Orphanet28 Q85.8
MESH via Orphanet37 D006623
UMLS via Orphanet66 C0019562
UMLS65 C0019562

Summaries for Von Hippel-Lindau Syndrome

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OMIM:49 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 hemangioblastoma and renal cell carcinoma, and has symptoms including visceral angiomatosis, abnormality of the cerebral vasculature and arteriovenous malformation. An important gene associated with Von Hippel-Lindau Syndrome is VHL (Von Hippel-Lindau Tumor Suppressor), and among its related pathways are Immune response_Oncostatin M signaling via JAK-Stat in human cells and Hypoxic and oxygen homeostasis regulation of HIF-1-alpha. Affiliated tissues include kidney, brain and spinal cord, and related mouse phenotypes are limbs/digits/tail and vision/eye.

Genetics Home Reference:23 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:45 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:35 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:46 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.

UniProtKB/Swiss-Prot:67 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 summary for NBK1463

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 161)
idRelated DiseaseScoreTop Affiliating Genes
1hemangioblastoma31.8HIF1A, VEGFA, VHL
2renal cell carcinoma29.9CCND1, HIF1A, MET, SDHB, SDHD, VEGFA
3vhl-related pheochromocytoma12.5
4autosomal recessive secondary polycythemia not associated with vhl gene12.4
5angiomatosis11.3
6pancreatic cancer10.8
7insulinoma10.8
8pancreatic serous cystadenoma10.8
9clear cell renal cell carcinoma10.8
10endolymphatic sac tumor10.8
11middle cerebral artery infarction10.5CHGA, VHL
12advanced sleep phase syndrome10.4CHGA, VEGFA
13breast cancer10.4
14lymphoma10.4
15cerebritis10.4
16hypoxia10.4
17pancreatic cystadenoma10.4CHGA, VEGFA, VHL
18hemangioma of peripheral nerve10.4CHGA, PNMT, RET
19iodine antenatal infection10.4HIF1A, VEGFA
20g6pc3 deficiency10.3HIF1A, VHL
21glucose-6-phosphate translocase deficiency10.3CHGA, CHGB
22parathyroid adenoma10.3CHGA, MEN1
23large cell medulloblastoma10.3CCND1, CHGA, VEGFA
24cataract hutterite type10.3RET, SDHB, SDHD
25familial stomach cancer10.3SDHB, SDHC, SDHD
26neuroaxonal dystrophy renal tubular acidosis10.3SDHB, SDHC, SDHD
27gallbladder adenoma10.3RET, SDHB, SDHD
28paraganglioma and gastric stromal sarcoma10.3SDHB, SDHC, SDHD
29brachyolmia10.3CCND1, CHGA, VEGFA
30carnitine palmitoyltransferase i deficiency , muscle10.3SDHB, SDHC, SDHD
31cataract 4, multiple types10.3RET, SDHB, SDHD
32adenomyoma10.3SDHB, SDHC, SDHD
33glycogen storage disease ib10.3SDHB, SDHC, SDHD
34rheumatoid arthritis10.3
35neuroblastoma10.3
36lung cancer10.3
37williams-beuren syndrome10.3
38chondrosarcoma10.3
39otitis media10.3
40prader-willi syndrome10.3
41alveolar soft-part sarcoma10.3
42anaplastic large cell lymphoma10.3
43arthritis10.3
44cerebral palsy10.3
45leukemia10.3
46mantle cell lymphoma10.3
47polycystic ovary syndrome10.3
48desquamative interstitial pneumonia10.3
49spastic cerebral palsy10.3
50aphasia10.3

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



Diseases related to von hippel-lindau syndrome

Symptoms for Von Hippel-Lindau Syndrome

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Symptoms by clinical synopsis from OMIM:

193300

Clinical features from OMIM:

193300

Symptoms:

 51 (show all 45)
  • retinal vascular anomalies/retinal telangiectasia
  • nystagmus
  • sensorineural deafness/hearing loss
  • vascular anomalies of skin/mucosae
  • congenital pancreatic cyst
  • visceral angiomatosis (excluding skin)
  • arteriovenous malformations/vascular malformations (excluding port-wine stains)
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • cerebral vascular anomalies
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • kidney/renal neoplasm/tumor/carcinoma/cancer
  • vascular malignancy/tumor
  • autosomal dominant inheritance
  • mild visual loss/impaired visual acuity
  • telangiectasiae of the skin
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • renal/kidney anomalies
  • multicystic kidney/renal dysplasia
  • hydrocephaly
  • facial pain/cephalalgia/migraine
  • motor deficit/trouble
  • abnormal gait
  • ataxia/incoordination/trouble of the equilibrium
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • sensitive trouble/deficit
  • glaucoma
  • cataract/lens opacification
  • retinal detachment
  • macular dystrophy/absence/hypoplasia of the macula
  • visual loss/blindness/amblyopia
  • hearing loss/hypoacusia/deafness
  • hyperhidrosis/increased sweating
  • structural anomalies of the pancreas
  • cardiac rhythm disorder/arrhythmia
  • chronic arterial hypertension
  • acute arterial hypertension/hypertensive crisis
  • anomalies of the lymphatic system
  • polycystic kidneys
  • spermatocele/epididymal/funicular/spermatic/vaginal/albugineal cyst
  • cranial hypertension
  • neoplasms/tumors
  • pheochromocytoma/paraganglioma
  • neuroendocrine tumor/apudoma/carcinoid
  • middle ear neoplasm/tumor/carcinoma/cancer

HPO human phenotypes related to Von Hippel-Lindau Syndrome:

(show all 50)
id Description Frequency HPO Source Accession
1 visceral angiomatosis hallmark (90%) HP:0100761
2 abnormality of the cerebral vasculature hallmark (90%) HP:0100659
3 arteriovenous malformation hallmark (90%) HP:0100026
4 renal neoplasm hallmark (90%) HP:0009726
5 abnormality of the retinal vasculature hallmark (90%) HP:0008046
6 aplasia/hypoplasia of the cerebellum hallmark (90%) HP:0007360
7 neurological speech impairment hallmark (90%) HP:0002167
8 pancreatic cysts hallmark (90%) HP:0001737
9 nystagmus hallmark (90%) HP:0000639
10 sensorineural hearing impairment hallmark (90%) HP:0000407
11 telangiectasia of the skin typical (50%) HP:0100585
12 hemiplegia/hemiparesis typical (50%) HP:0004374
13 incoordination typical (50%) HP:0002311
14 migraine typical (50%) HP:0002076
15 nausea and vomiting typical (50%) HP:0002017
16 gait disturbance typical (50%) HP:0001288
17 visual impairment typical (50%) HP:0000505
18 hydrocephalus typical (50%) HP:0000238
19 multicystic kidney dysplasia typical (50%) HP:0000003
20 neoplasm of the middle ear occasional (7.5%) HP:0100799
21 abnormality of the lymphatic system occasional (7.5%) HP:0100763
22 hypertensive crisis occasional (7.5%) HP:0100735
23 neuroendocrine neoplasm occasional (7.5%) HP:0100634
24 arrhythmia occasional (7.5%) HP:0011675
25 increased intracranial pressure occasional (7.5%) HP:0002516
26 abnormality of the macula occasional (7.5%) HP:0001103
27 hyperhidrosis occasional (7.5%) HP:0000975
28 retinal detachment occasional (7.5%) HP:0000541
29 cataract occasional (7.5%) HP:0000518
30 visual impairment occasional (7.5%) HP:0000505
31 glaucoma occasional (7.5%) HP:0000501
32 polycystic kidney dysplasia occasional (7.5%) HP:0000113
33 epididymal cyst HP:0030424
34 papillary cystadenoma of the epididymis HP:0009715
35 spinal hemangioblastoma HP:0009713
36 retinal capillary hemangioma HP:0009711
37 cerebellar hemangioblastoma HP:0006880
38 pulmonary capillary hemangiomatosis HP:0005954
39 renal cell carcinoma HP:0005584
40 multiple renal cysts HP:0005562
41 neoplasm of the pancreas HP:0002894
42 paraganglioma HP:0002668
43 pheochromocytoma HP:0002666
44 vertigo HP:0002321
45 polycythemia HP:0001901
46 pancreatic cysts HP:0001737
47 abnormality of the liver HP:0001392
48 hypertension HP:0000822
49 sensorineural hearing impairment HP:0000407
50 tinnitus HP:0000360

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 37)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Miconazoleapproved, investigationalPhase 3302622916-47-84189
Synonyms:
(+-)-1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl) imidazole
1-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]imidazole
1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole
1-[2-(2,4-Dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]-1H-imidazole
1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole
1-[2-(2,4-dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]imidazole
1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole
1-{2-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole
22832-87-7 (NITRATE)
22916-47-8
75319-47-0
AB00053500
AC1L1HM1
AKOS001574474
Aflorix(nitrate)
Albistat(nitrate)
Andergin(nitrate)
BPBio1_000279
BRD-A82396632-001-03-0
BRD-A82396632-008-02-7
BRN 0965511
BSPBio_000253
BSPBio_002033
CCRIS 7924
CHEBI:6923
CHEMBL91
CID4189
CPD-4501
Conofite(nitrate)
D00416
DB01110
Dactarin
Daktarin IV
Daktarin iv
Desenex
DivK1c_000156
EINECS 245-324-5
Epi-Monistat(nitrate)
Femizol-M
Florid(nitrate)
Gyno-Daktar(nitrate)
HMS1568M15
HMS2090B21
I14-14342
IDI1_000156
Imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl)methoxy)ethyl)- (9CI)
KBio1_000156
KBio2_001445
KBio2_004013
KBio2_006581
KBio3_001533
KBioGR_000581
KBioSS_001445
LS-78378
Lotrimin AF(nitrate)
MCZ
MJR 1762
MLS002222203
Makesense
Micantin (nitrate)
Micatin
 
Miconasil Nitrate
Miconazol
Miconazol [INN-Spanish]
Miconazole
Miconazole (JP15/USP/INN)
Miconazole 3
Miconazole 3 Combination Pack
Miconazole 7 Combination Pack
Miconazole [USAN:BAN:INN:JAN]
Miconazole nitrate salt
Miconazole-7
Miconazolo
Miconazolo [DCIT]
Miconazolum
Miconazolum [INN-Latin]
Micozole
Minostate
MolPort-002-557-553
Monazole 7
Monista (nitrate)
Monistat
Monistat (TN)
Monistat 1 Combination Pack
Monistat 3 Dual-Pak
Monistat 3 Vaginal Ovules
Monistat 5 Tampon
Monistat 7 Dual-Pak
Monistat 7 Vaginal Suppositories
Monistat Dual- PAK
Monistat IV
Monistat iv (TN)
Monistat iv (tn)
Monistat-Derm
NCI60_001353
NCI60_001380
NINDS_000156
NSC 170986
NSC169434
NSC170986
Novo-Miconazole Vaginal Ovules
Oprea1_091955
Oravig
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
Rash Relief Antifungal
SMR001307249
SPBio_000976
SPBio_002174
STK834405
STOCK1S-93556
Spectrum2_001048
Spectrum3_000507
Spectrum4_000061
Spectrum5_001297
Spectrum_000965
UNII-7NNO0D7S5M
Vusion
Zimycan
imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)
miconazole
2
Sirolimusapproved, investigationalPhase 3179753123-88-95284616, 6436030, 46835353
Synonyms:
(-)-Rapamycin
(-)-rapamycin
1fkb
1pbk
23,27-Epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine
23,27-Epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine
23,27-epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine-1,5,11,28,29
3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
53123-88-9
A422989, NSC226080
AC-722
AC1L1JH9
AC1L7MJ9
AC1L9ZMV
AY 22989
AY-22989
AY22989
Ambotz53123-88-9
Antibiotic AY 22989
BIDD:PXR0165
Bio1_000293
Bio1_000782
Bio1_001271
Bio2_000375
Bio2_000855
BiomolKI2_000084
C07909
C51H79NO13
CBiol_002007
CCRIS 9024
CHEBI:100923
CHEBI:9168
CHEMBL413
CID10213190
CID10795871
CID11949238
CID11959112
CID313006
CID478951
CID5040
CID5284616
CID5358081
CID5374464
CID5460439
CID5497196
CID5924240
CID6436030
CID6610270
CID6610346
CID6711160
CID6713081
CID9833581
CID9854379
CID9854380
CID9962926
CID9962928
D00753
DB00877
DE-109
DivK1c_006936
 
FT-0082351
HMS2089A21
HSDB 7284
KBio1_001880
KBio2_000410
KBio2_002978
KBio2_005546
KBio3_000779
KBio3_000780
KBioGR_000410
KBioSS_000410
LCP-Siro
LMPK06000003
LS-143290
MLS000028373
MS-R001
MolMap_000043
MolPort-003-959-433
NCGC00021305-05
NCI60_001851
NCIMech_000355
NSC 226080
NSC226080
Perceiva
QTL1_000069
R0395_SIAL
R0395_SIGMA
RAP
RAPA
RPM
Rapammune
Rapamune
Rapamune (TN)
Rapamycin
Rapamycin (TN)
Rapamycin C-7, analog 4
Rapamycin Immunosuppressant Drug
Rapamycin from Streptomyces hygroscopicus
S1039_Selleck
SIIA 9268A
SILA 9268A
SILA9268A
SMP1_000255
SMR000058564
Sirolimus
Sirolimus (RAPAMUNE)
Sirolimus (USAN/INN)
Sirolimus [USAN:BAN:INN]
Sirolimus, Rapamune,Rapamycin
SpecPlus_000840
UNII-W36ZG6FT64
UNM-0000358684
WY-090217
Wy 090217
heptadecahydro-9,27-dihydroxy-3-[(1R)-2-[(1S,3R,4R)-4-hydroxy
nchembio.100-comp4
nchembio.2007.42-comp2
nchembio.79-comp1
nchembio762-comp1
nchembio883-comp3
rapamycin
sirolimus
3
EverolimusapprovedPhase 31797159351-69-66442177
Synonyms:
(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone
(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.04,9)hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone
(1R,9S,12S,15R,16E,23S,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriacont
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-Hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-23,27-epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,27-dihydroxy-3-{(2R)-1-[(1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl]propan-2-yl}-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-3H-23,27-epoxypyrido[2,1-c][1,4]oxazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34as)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethy
07741_FLUKA
159351-69-6
40-O-(2-hydroxyethyl)-rapamycin
42-O-(2-Hydroxyethyl)rapamycin
Afinitor
Afinitor Disperz
CERTICAN(R)
CHEMBL1201755
Certican
D02714
DB01590
 
Everolimus
Everolimus (JAN/USAN/INN)
Everolimus [USAN]
LS-143292
MolPort-003-847-342
MolPort-003-925-588
NCGC00167512-01
NVP-RAD-001
RAD 001
RAD-001
RAD-001C
RAD001
RAD001, SDZ-RAD, Certican, Zortress, Afinitor, Everolimus
S1120_Selleck
SDZ-RAD
UNII-9HW64Q8G6G
VOTUBIA
Zortress
everolimus
4MitogensPhase 3, Phase 21386
5Immunologic FactorsPhase 3, Phase 1, Phase 218483
6Endothelial Growth FactorsPhase 3, Phase 2328
7Antifungal AgentsPhase 33015
8Antibiotics, AntitubercularPhase 35971
9Anti-Infective AgentsPhase 317220
10Immunosuppressive AgentsPhase 310422
11Anti-Bacterial AgentsPhase 39140
12tyrosineNutraceuticalPhase 3596
13
RanibizumabapprovedPhase 1, Phase 2460347396-82-1459903
Synonyms:
347396-82-1
D05697
Lucentis
Lucentis (TN)
 
Ranibizumab
Ranibizumab (USAN/INN)
Ranibizumab (genetical recombination)
Ranibizumab (genetical recombination) (JAN)
ranibizumab
rhuFab V2
14
Sunitinibapproved, investigationalPhase 2, Phase 1486341031-54-7, 557795-19-45329102
Synonyms:
(2S)-2-hydroxybutanedioic acid
1H-Pyrrole-3-carboxamide, N-(2-(diethylamino)ethyl)-5-((Z)-(5-fluoro-1,2-dihydro-2-oxo-3H-indol-3-ylidene)methyl)-2,4-dimethyl-, (2S)-hydroxybutanedioate (1:1)
1H-Pyrrole-3-carboxamide, N-(2-(diethylamino)ethyl)-5-((Z)-(5-fluoro-1,2-dihydro-2-oxo-3H-indol-3-ylidene)methyl)-2,4-dimethyl-, (2S)-hydroxybutanedioate (1:1)
326914-13-0
341031-54-7
5-(5-FLUORO-2-OXO-1,2-DIHYDRO-INDOL-3-YLIDENEMETHYL)-2,4-DIMETHYL-1H-PYRROLE-3-CARBOXYLIC ACID (2-DIETHYLAMINO-ETHYL)-AMIDE
557795-19-4
AC1NS62J
AC1O5CMQ
AKOS005145765
Butanedioic acid, hydroxy-, (2S)-, compd. with N-(2-(diethylamino)ethyl)-5-((Z)-(5-fluoro-1,2-dihydro-2-oxo-3H-indol-3-ylidene)methyl)-2,4-dimethyl-1H-pyrrole-3-carboxamide (1:1)
CHEBI:38940
CHEBI:550864
CHEMBL1567
CHEMBL535
CID5329102
CID6456015
D06402
D08552
DB01268
DB07417
EN002687
FT-0083555
FT-0083556
I01-1229
K00588a
KS-5022
LS-186078
LS-187023
LS-187648
MolPort-003-986-763
N-(2-(Diethylamino)ethyl)-5-((Z)-(5-fluoro-1,2-dihydro-2-oxo-3H-indol-3-ylidene)methyl)-2,4-dimethyl-1H-pyrrole-3-carboxamide (2S)-hydroxybutanedioate
N-(2-diethylaminoethyl)-5-[(Z)-(5-fluoro-2-oxo-1H-indol-3-ylidene)methyl]-2,4-dimethyl-1H-pyrrole-3-carboxamide
N-[2-(diethylamino)ethyl]-5-[(Z)-(5-fluoro-2-oxo-1,2-dihydro-3H-indol-3-ylidene)methyl]-2,4-dimethyl-1H-pyrrole-3-carboxamide
NCGC00164631-01
 
NSC736511
NSC750690
PDGF TK antagonist
PHA-290940AD
PNU-290940AD
S1042_Selleck
ST51053712
SU 011248
SU 11248
SU-010398
SU-011248 L-malate salt
SU-11248
SU-11248 L-malate salt
SU-11248J
SU-12662
SU010398
SU011248
SU011248 L-malate salt
SU11248
Su-011248
Sunitanib
Sunitinib
Sunitinib (INN)
Sunitinib (free base)
Sunitinib Malate
Sunitinib malate
Sunitinib malate (JAN/USAN)
Sunitinib malate [USAN]
Sunitinibum
Sutent
Sutent (TN)
Sutent, SU-11248
TL8002546
UNII-LVX8N1UT73
UNII-V99T50803M
sunitinib
sunitinibum
15
PancrelipaseapprovedPhase 288053608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
Creon
PA
Pancreatic alpha-amylase precursor
Pancreaze
 
Pancrelipase
Pertzye
Polocaine-mpf
Ultresa
Viokace
Zenpep
16
VatalanibinvestigationalPhase 240212141-54-3151194
Synonyms:
1-(4-chloroanilino)-4-(4-pyridylmethyl)phthalazine succinate
CGP79787
PTK 787
 
PTK/ZK
PTK787
PTK787/ZK 222584
ZK222584
vatalanib
17Protein Kinase InhibitorsPhase 23162
18Fluorodeoxyglucose F18Phase 2356
19RadiopharmaceuticalsPhase 2362
20Angiogenesis InhibitorsPhase 2, Phase 1, Phase 03688
21Angiogenesis Modulating AgentsPhase 2, Phase 1, Phase 03611
22
SomatostatinPhase 215351110-01-153481605
Synonyms:
growth hormone-inhibiting hormone (GHIH)
 
somatotropin release-inhibiting factor (SRIF)
somatotropin release-inhibiting hormone
23Freund's AdjuvantPhase 293
24VaccinesPhase 26085
25pancreatinPhase 2880
26Adjuvants, ImmunologicPhase 21783
27
Bevacizumabapproved, investigationalPhase 1, Phase 01875216974-75-3
Synonyms:
216974-75-3
Avastin
Avastin (TN)
Bevacizumab
Bevacizumab (genetical recombination)
 
Bevacizumab (genetical recombination) (JAN)
D06409
R-435
anti-VEGF monoclonal antibody
antiVEGF
bevacizumab
28
Vorinostatapproved, investigationalPhase 1238149647-78-95311
Synonyms:
149647-78-9
1zz1
AC-1923
AC1L1K2K
BRD-K81418486-001-10-3
C111237
CCRIS 8456
CHEBI:45716
CHEMBL98
CID5311
D06320
DB02546
EC-000.2057
FT-0082592
LS-186548
LS-186997
LS-187780
MK-0683
MK0683
MLS001065855
Merck brand of Vorinostat
MolPort-003-850-293
N'-hydroxy-N-phenyloctanediamide
N-Hydroxy-N'-phenyl octanediamide
N-Hydroxy-N'-phenyloctanediamide
N-Hyrdroxy-N'-phenyloctanediamide
N-hydroxy-N'-phenyl-octane-1,8-diotic acid diamide
N-hydroxy-N'-phenyloctanediamide
N1-hydroxy-N8-phenyloctanediamide
NCGC00168085-02
 
NHNPODA
NSC-701852
NSC701852
OCTANEDIOIC ACID HYDROXYAMIDE PHENYLAMIDE
Octanedioic acid hydroxyamide phenylamide
S1047_Selleck
SAHA
SAHA cpd
SAHA, Suberoylanilide hydroxamic acid
SHH
SKI390
SMR000486344
SW-064652
Suberanilohydroxamic acid
SuberoylaN/Aide hydroxamic acid
Suberoylanilide hydroxamic acid
UNII-58IFB293JI
Vorinostat
Vorinostat (JAN/USAN)
Vorinostat MSD
Vorinostat [USAN]
Vorinostatum
WIN64652
ZINC01543873
Zolinza
Zolinza (TN)
Zolinza, MK-0683, SAHA
m344
nchembio.275-comp2
nchembio.313-comp1
nchembio815-comp18
suberoylanilide hydroxamic acid
29ImmunoglobulinsPhase 14477
30AntibodiesPhase 14477
31Antibodies, MonoclonalPhase 12413
32Histone Deacetylase InhibitorsPhase 1532
33
Sorafenibapproved, investigational671284461-73-0216239, 406563
Synonyms:
284461-73-0
4(4-{3-[4-Chloro-3-(trifluoromethyl)phenyl]ureido}phenoxy)-N(sup 2)-methylpyridine-2-carboxamide
4-(4-((((4-Chloro-3-(trifluoromethyl)phenyl)amino)carbonyl)amino)phenoxy)-N-methyl-2-pyridinecarboxamide
4-(4-(3-(4-chloro-3-trifluoromethylphenyl)ureido)phenoxy)pyridine-2-carboxyllic acid methyamide-4-methylbenzenesulfonate
4-(4-{3-(4-Chloro-3-(trifluoromethyl)phenyl)ureido}phenoxy)-N(sup 2)-methylpyridine-2-carboxamide
4-[4-({[4-chloro-3-(trifluoromethyl)phenyl]carbamoyl}amino)phenoxy]-N-methylpyridine-2-carboxamide
4-[4-[[4-chloro-3-(trifluoromethyl)phenyl]carbamoylamino]phenoxy]-N-methyl-pyridine-2-carboxamide
4-[4-[[4-chloro-3-(trifluoromethyl)phenyl]carbamoylamino]phenoxy]-N-methylpyridine-2-carboxamide
4-[4-[[[[4-chloro-3-(trifluoromethyl)phenyl]amino]carbonyl]amino]phenoxy]-N-methyl-2-pyridinecarboxamide
4-{4-[({[4-CHLORO-3-(TRIFLUOROMETHYL)PHENYL]AMINO}CARBONYL)AMINO]PHENOXY}-N-METHYLPYRIDINE-2-CARBOXAMIDE
AB1004622
AC-1674
AC1L50CF
BAX
BAY 43-9006
BAY 43-9006 (free base)
BAY 43-9006 tosylate salt
BAY 439006
BAY 54-9085 (tosylate salt)
BAY-43-0006
BAY-43-9006
BAY-54-9085
BAY43-9006
BRD-K23984367-001-01-8
Bio-0100
CHEBI:47228
CHEBI:50924
CHEMBL1336
CID216239
 
D08524
DB00398
DB07438
EN002709
I06-0856
K00597a
Kinome_766
LS-186067
LS-187021
LS-187788
MolPort-003-850-270
N-(4-Chloro-3-(trifluoromethyl)phenyl)-N'-(4-(2-(N-methylcarbamoyl)-4-pyridyloxy)phenyl)urea
N-(4-Chloro-3-(trifluoromethyl)phenyl)-n'-(4-(2-(N-methylcarbamoyl)-4-pyridyloxy)phenyl)urea
N-(4-chloro-3-(trifluoromethyl)phenyl)-N'-(4-(2-(N-methylcar bamoyl)-4-pyridyloxy)phenyl)urea
N-[4-Chloro-3-(trifluoromethyl)phenyl]-N'-[4-[2-(N-methylcarbamoyl)-4-pyridyloxy]phenyl]urea
NCGC00167488-01
NSC-724772
NSC747971
Nexavar
STK627350
Sorafenib
Sorafenib (INN)
Sorafenib Tosylate
Sorafenib [INN]
Sorafenib tosylate
Sorafenibum
UNII-9ZOQ3TZI87
ZINC01493878
nchembio.117-comp17
sorafenib
sorafenibum
34
Norepinephrineapproved59551-41-2439260
Synonyms:
(-)-(R)-Norepinephrine
(-)-Arterenol
(-)-Arterenol free base
(-)-NORADRENALINE
(-)-Noradrenaline
(-)-Norepinephrine
(-)-alpha-(Aminomethyl)protocatechuyl alcohol
(R)-(-)-Norepinephrine
(R)-4-(2-Amino-1-hydroxyethyl)-1,2-benzenediol
(R)-4-(2-amino-1-Hydroxyethyl)-1,2-benzenediol
(R)-Noradrenaline
(R)-Norepinephrine
1,2-Benzenediol, 4-(2-amino-1-hydroxyethyl)-, (R)- (9CI)
4-(2-Amino-1-hydroxyethyl)-1,2-benzenediol
4-[(1R)-2-Amino-1-hydroxyethyl]-1,2-benzenediol
4-[(1R)-2-amino-1-hydroxyethyl]benzene-1,2-diol
4899-05-2
51-40-1 (l-tartrate (1:1))
51-41-2
66197-73-7
A7257_SIGMA
AC1L96ZT
ALBB-006229
Adrenor
Aktamin
Arterenol
BRN 4231961
BSPBio_002079
C00547
CHEBI:18357
CHEMBL1437
CID439260
D-(-)-Noradrenaline
D00076
D53D5E3A-2360-4CA9-8031-6C2CD4062FD5
DB00368
DivK1c_000230
EINECS 200-096-6
HMS1920B08
HMS2089E18
HMS2091J08
HMS500L12
IDI1_000230
KBio1_000230
KBio2_001489
KBio2_004057
KBio2_006625
KBio3_001579
KBioGR_000635
KBioSS_001489
L-2-Amino-1-(3,4-dihydroxyphenyl)ethanol
L-3,4-Dihydroxyphenylethanolamine
L-3,4-dihydroxyphenylethanolamine
L-Arterenol
L-Noradrenaline
L-Norepinephrine
L-alpha-(Aminomethyl)-3,4-dihydroxybenzyl alcohol
L-alpha-(aminomethyl)-3,4-dihydroxybenzyl alcohol
L-arterenol
L-noradrenaline
LS-42676
 
LT03330026
LT4
Levarterenol
Levarterenolo
Levarterenolo [DCIT]
Levoarterenol
Levonor
Levonoradrenaline
Levonorepinephrine
Levophed
NCGC00159406-02
NCGC00159406-03
NCGC00159406-04
NCGC00159406-05
NCGC00159406-06
NCGC00159406-07
NCGC00159406-09
NINDS_000230
Nor adrenalin
Nor adrenalin (TN)
Nor-Epirenan
Noradrenalin
Noradrenalina
Noradrenalina [Italian]
Noradrenaline
Noradrenaline (JP15)
Noradrenalinum
Norartrinal
Noreinefrina
Noreinefrina [INN-Spanish]
Norepinefrina
Norepinephrine
Norepinephrine (INN)
Norepinephrine Noradrenalin
Norepinephrine [INN:JAN]
Norepinephrine l-Tartrate (1:1)
Norepinephrinum
Norepinephrinum [INN-Latin]
Norepirenamine
PDSP1_001111
PDSP2_001095
SGCUT00123
SPBio_001048
SPECTRUM1500436
STK503776
Spectrum2_001064
Spectrum3_000520
Spectrum4_000078
Spectrum5_001068
Spectrum_001009
Sympathin E
UNII-X4W3ENH1CV
bmse000404
l-1-(3,4-Dihydroxyphenyl)-2-aminoethanol
l-2-Amino-1-(3,4-dihydroxyphenyl)ethanol
nchembio.284-comp2
nchembio.64-comp2
nchembio705-1
noradrenaline
norepinefrina
norepinephrine
norepinephrinum
to_000024
35
Epinephrineapproved83451-43-45816
Synonyms:
(-)-(R)-Epinephrine
(-)-3,4-Dihydroxy-a-[2-(methylamino)ethyl]benzyl alcohol
(-)-3,4-Dihydroxy-alpha-((methylamino)methyl)benzyl alcohol
(-)-3,4-Dihydroxy-alpha-[2-(methylamino)ethyl]benzyl alcohol
(-)-3,4-dihydroxy-a-[(methylamino)methyl]-Benzyl alcohol
(-)-3,4-dihydroxy-alpha-[(methylamino)methyl]-Benzyl alcohol
(-)-Adrenalin
(-)-Adrenaline
(-)-Epinephrine
(-)-R-Epinephrine
(R)-(-)-Adnephrine
(R)-(-)-Adrenaline
(R)-(-)-Epinephrine
(R)-(-)-Epirenamine
(R)-(−)-adrenaline
(R)-4-[1-Hydroxy-2-(methylamino)ethyl]-1,2-benzenediol
(R)-4-[1-hydroxy-2-(methylamino)ethyl]-1,2-Benzenediol
(R)-Adrenaline
(R)-Epinephrine
(−)-adrenaline
02252_FLUKA
1-1-(3,4-Dihydroxyphenyl)-2-methylaminoethanol
1-Adrenalin
1-Epinephrine
4-(1-Hydroxy-2-(methylamino)ethyl)-1,2-benzenediol
4-(1-hydroxy-2-methylamino-ethyl)benzene-1,2-diol
4-[(1R)-1-Hydroxy-2-(methylamino)ethyl]-1,2-Benzenediol
4-[(1R)-1-Hydroxy-2-(methylamino)ethyl]-1,2-benzenediol
4-[(1R)-1-hydroxy-2-(methylamino)ethyl]benzene-1,2-diol
51-43-4
51-43-4 (FREE BASE)
51028-73-0
A0173
AC-13188
AC1L1L7B
ADR ADRENALINE
ADROP
AI3-19015
Adnephrine
Adrenaclick
Adrenal
Adrenalin
Adrenalin (TN)
Adrenalin in Oil
Adrenalin-Medihaler
Adrenalina
Adrenalina [DCIT]
Adrenaline
Adrenaline (JP15)
Adrenaline/Epinephrine
Adrenalinum
Adrenamine
Adrenan
Adrenapax
Adrenasol
Adrenatrate
Adrenine
Adrenodis
Adrenohorma
Adrenosan
Adrenutol
Adrin
Adrine
Ana-Guard
Ana-Kit
Antiasthmatique
Asmatane Mist
Asthma meter mist
Asthma-nefrin
Asthmahaler Mist
Asthmanefrin
Astmahalin
Astminhal
Auvi-q
BIDD:GT0119
Balmadren
Bernarenin
Biorenine
Bosmin
Brevirenin
Bronkaid
Bronkaid Mist
Bronkaid Suspension Mist
Bupivacaine Hcl and Epinephrine
C00788
CCRIS 4812
CHEBI:28918
CHEMBL679
CID5816
Chelafrin
Citanest Forte
Corisol
D-Epifrin
D-Epinephrine
D00095
DB00668
Drenamist
Dylephrin
Dyspne-Inhal
E4250_SIGMA
EINECS 200-098-7
EPI E Z PEN JR
EPIPEN E Z PEN
EPIPEN JR
Epi EZ Pen Jr
Epifrin
Epiglaufrin
Epinefrin
Epinefrin [Czech]
Epinefrina
Epinefrina [INN-Spanish]
Epinephran
Epinephrin
Epinephrine
Epinephrine (USP)
Epinephrine (USP/INN)
Epinephrine [USAN:INN:JAN]
Epinephrine bitartrate
Epinephrine chloride
Epinephrine hydrochloride
Epinephrinum
Epinephrinum [INN-Latin]
Epipen
Epipen (TN)
Epipen Auto-Injector
Epipen EZ Pen
Epipen Jr
Epipen Jr.
Epipen Jr. Auto-Injector
Epipen jr
Epirenamine
Epirenan
Epirenin
Epitrate
Eppy
 
Esphygmogenina
Exadrin
Glaucon
Glaucosan
Glauposine
Glycirenan
HSCI1_000215
HSDB 4289
Haemostasin
Haemostatin
Hektalin
Hemisine
Hemostasin
Hemostatin
Hypernephrin
Hyporenin
IOP
Intranefrin
Iontocaine
Isoptoepinal
Kidoline
L-1-(3,4-Dihydroxyphenyl)-2-methylaminoethanol
L-Adrenaline
L-Adrenaline Base
L-Epinehphrine
L-Epinephrine
L-Epirenamine
L-Methylaminoethanolcatechol
L-epinephrine
LS-156
Levo-Methylaminoethanolcatechol
Levoadrenaline
Levoepinephrine
Levorenen
Levorenin
Levorenine
Levoreninum
Lopac-E-4642
Lyodrin
Lyophrin
Medihaler-Epi
Metanephrin
Methylaminoethanolcatechol
Methylarterenol
Micronefrin
Micronephrine
MolPort-002-051-368
Mucidrina
Myosthenine
Mytrate
NCGC00015417-01
NCGC00142615-01
NCGC00142615-03
NCGC00142615-04
NCGC00142615-05
NCGC00142615-06
NCGC00142615-07
NSC 62786
NSC62786
Nephridine
Nieraline
PDSP1_001120
PDSP2_001104
Paranephrin
Primatene
Primatene Mist
Primatene Mist Refill
Prime Asthma Relief
R-(-)-Epinephrine
R-Adrenaline
RCRA waste no. P042
Racemic Epinephrine
Racepinephrine
Rcra waste number P042
Renagladin
Renaglandin
Renaglandulin
Renaleptine
Renalina
Renoform
Renostypricin
Renostypticin
Renostyptin
SMP1_000227
ST069368
SUS-PHRINE SULFITE-FREE
Scurenaline
Septocaine
Simplene
Sindrenina
Soladren
Sphygmogenin
Stryptirenal
Styptirenal
Supracapsulin
Supradin
Supranefran
Supranephrane
Supranephrine
Supranol
Suprarenaline
Suprarenin
Suprel
Surenine
Surrenine
Sus-Phrine
Sus-phrine
Susphrine
Sympathin I
Takamina
Takamine
Tokamina
Tonogen
Twinject
Twinject 0.15
Twinject 0.3
Twinject 0.30
UNII-YKH834O4BH
Vaponefrin
Vasoconstrictine
Vasoconstrictor
Vasodrine
Vasoton
Vasotonin
adrenaline
bmse000316
d-Adrenaline
epinephrine
l-1-(3,4-Dihydroxyphenyl)-2-methylaminoethanol
l-Adrenalin
l-Adrenaline
l-Epinephine
l-Epinephrine (synthetic)
l-Epirenamine
l-Methylaminoethanolcatechol
levoepinephrine
nchembio747-comp9
36Racepinephrine834
37Epinephryl borate834

Interventional clinical trials:

(show all 33)
idNameStatusNCT IDPhase
1A Study of Cabozantinib (XL184) vs Everolimus in Subjects With Metastatic Renal Cell CarcinomaActive, not recruitingNCT01865747Phase 3
217AAG to Treat Kidney Tumors in Von Hippel-Lindau DiseaseCompletedNCT00088374Phase 2
3Treatment of Von Hippel-Lindau (VHL)-Related Hemangioblastoma With PTK787/ZK 222584CompletedNCT00052013Phase 2
4Study of Sunitinib in Patients With Von Hippel-Lindau (VHL) DiseaseCompletedNCT01168440Phase 2
5Phase II Study of Vandetanib in Individuals With Kidney CancerCompletedNCT00566995Phase 2
6Treatment of Exudative and Vasogenic Chorioretinal Diseases Including Variants of AMD and Other CNV Related MaculopathyCompletedNCT00470977Phase 1, Phase 2
7Metabolic Mapping to Measure Retinal MetabolismCompletedNCT00385333Phase 2
8Pazopanib in Von Hippel-Lindau (VHL) SyndromeRecruitingNCT01436227Phase 2
9Evaluation of 68Gallium-DOTATATE PET/CT for Detecting Neuroendocrine TumorsRecruitingNCT01967537Phase 2
10pazopanib_NCRCC,Ph2 STUDYRecruitingNCT01538238Phase 2
11Evaluation of Sunitinib Malate in Patients With Von Hippel-Lindau Syndrome (VHL) Who Have VHL Lesions to FollowTerminatedNCT00330564Phase 2
12Sunitinib Malate to Treat Advanced Eye Disease in Patients With Von Hippel-Lindau SyndromeTerminatedNCT00673816Phase 1, Phase 2
13TKI 258 in Von Hippel-Lindau Syndrome (VHL)TerminatedNCT01266070Phase 2
14Vandetanib to Treat Advanced Kidney CancerTerminatedNCT01372813Phase 2
15Vaccine Therapy With Tumor Specific Mutated VHL Peptides in Adult Cancer Patients With Renal Cell CarcinomaTerminatedNCT00001703Phase 2
16EYE001 to Treat Retinal Tumors in Patients With Von Hippel-Lindau SyndromeCompletedNCT00056199Phase 1
17Ranibizumab Injections to Treat Retinal Tumors in Patients With Von Hippel-Lindau SyndromeCompletedNCT00089765Phase 1
18Effect of Vorinostat on Nervous System Hemangioblastomas in Von Hippel-Lindau Disease (Missense Mutation Only)Enrolling by invitationNCT02108002Phase 1
19Visualizing Vascular Endothelial Growth Factor (VEGF) Producing Lesions in Von Hippel-Lindau DiseaseCompletedNCT00970970
20Endolymphatic 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 TumorsCompletedNCT00001668
21Genetic 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 SyndromeCompletedNCT00075348
22Effect of Sorafenib on ccRCC Uptake of Radiolabeled Bevacizumab or cG250CompletedNCT00602862
23Screening for Endolymphatic Sac Tumours (ELSTs) in Von Hippel-Lindau (vHL) PatientsRecruitingNCT02420067
24Natural History and Management of Pancreatic Lesions in Von Hippel-Lindau DiseaseRecruitingNCT00062166
25National Eye Institute Biorepository for Retinal DiseasesRecruitingNCT01496625
26Diagnosis of PheochromocytomaRecruitingNCT00004847
27Clinical Manifestations and Molecular Bases of Heritable Urologic Malignant DisordersRecruitingNCT00001238
28Von Hippel-Lindau Disease Genetic Epidemiology StudyActive, not recruitingNCT00001803
29Study of Brain and Spinal Cord Tumor Growth and Cyst Development in Patients With Von Hippel Lindau DiseaseActive, not recruitingNCT00005902
30Psychosocial Consequences of the Screening of Von Hippel Lindau Diseases for Patients Operated for a hémangioblastoma of Nervous Centrasl SystemActive, not recruitingNCT02120040
31Ruxolitinib for Chuvash PolycythemiaAvailableNCT01730755
32Assessment of Residual VHL Function in Tumors - Can it Predict the Patients' Individual Course of Disease?Enrolling by invitationNCT02207686
33Bevacizumab (Avastin) in Unresectable/Recurrent Hemangioblastoma From Von-Hippel-Lindau DiseaseTerminatedNCT01015300Phase 0

Search NIH Clinical Center for Von Hippel-Lindau Syndrome


Cochrane evidence based reviews: von hippel-lindau disease

Genetic Tests for Von Hippel-Lindau Syndrome

About this section

Genetic tests related to Von Hippel-Lindau Syndrome:

id Genetic test Affiliating Genes
1 Von Hippel-Lindau Disease22 VHL

Anatomical Context for Von Hippel-Lindau Syndrome

About this section

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

33
Kidney, Brain, Spinal cord, Retina, Eye, Pancreas, Adrenal gland

Animal Models for Von Hippel-Lindau Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Von Hippel-Lindau Syndrome:

38 (show all 21)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.7HIF1A, MET, NF1, RET, VEGFA, VHL
2MP:00053918.5CCND1, HIF1A, MET, NF1, SDHC, VEGFA
3MP:00053898.2CCND1, CHGA, INHA, MEN1, RET, TSC2
4MP:00053698.1HIF1A, MEN1, MET, NF1, RET, VEGFA
5MP:00053828.0CCND1, HIF1A, MEN1, MET, NF1, VEGFA
6MP:00053807.7HIF1A, MEN1, MET, NF1, RET, SDHD
7MP:00053677.3CHGA, HIF1A, MET, NF1, NPY, RET
8MP:00053707.0HIF1A, INHA, MEN1, MET, NF1, NPY
9MP:00053816.9CCND1, HIF1A, INHA, MEN1, MET, NF1
10MP:00053846.8CCND1, HIF1A, MEN1, MET, NF1, RASSF1
11MP:00053876.6CCND1, HIF1A, INHA, MEN1, MET, NF1
12MP:00036316.6CCND1, CHGB, HIF1A, MEN1, MET, NF1
13MP:00020066.3CCND1, HIF1A, INHA, MEN1, MET, NF1
14MP:00053796.1CCND1, CHGA, CHGB, HIF1A, INHA, MEN1
15MP:00028735.8CCND1, HIF1A, INHA, MET, NF1, NPY
16MP:00053785.5CCND1, CHGA, HIF1A, INHA, MEN1, MET
17MP:00107685.1CCND1, CHGA, HIF1A, INHA, MEN1, MET
18MP:00053854.7CCND1, CHGA, HIF1A, INHA, MEN1, MET
19MP:00053764.5CCND1, CHGA, CHGB, HIF1A, INHA, MEN1

Publications for Von Hippel-Lindau Syndrome

About this section

Articles related to Von Hippel-Lindau Syndrome:

(show top 50)    (show all 62)
idTitleAuthorsYear
1
Rheumatoid arthritis. The two faces of Rsk2 in hyperplastic disease. (25624005)
2015
2
Anosognosia in Alzheimer disease: Disconnection between memory and self-related brain networks. (26085009)
2015
3
Differential Diagnosis of Dysgraphia, Dyslexia, and OWL LD: Behavioral and Neuroimaging Evidence. (26336330)
2015
4
Pulmonary Actinomycosis Imitating Lung Cancer on (18)F-FDG PET/CT: A Case Report and Literature Review. (26576115)
2015
5
Werner syndrome: clinical evaluation of two cases and a novel mutation. (25059010)
2014
6
Sulforaphane Induces DNA Damage and Mitotic Abnormalities in Human Osteosarcoma MG-63 Cells: Correlation with Cell Cycle Arrest and Apoptosis. (24405297)
2014
7
Prevalence of insulin resistance and cardiometabolic risk in Korean children and adolescents: A population-based study. (24290751)
2013
8
SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein. (23941260)
2013
9
Pulmonary embolism in a patient with congenital afibrinogenemia. (23855372)
2013
10
Demodex Folliculitis Mimicking Acute Graft-vs-Host Disease. (24132559)
2013
11
Inhibition of placental growth factor improves surgical outcome of glaucoma surgery. (24118824)
2013
12
Structural and functional changes of the coronary arteries in elderly senile patients with essential hypertension. (24042969)
2013
13
Association of the IL28B genotype with insulin resistance in patients with chronic hepatitis C. (22634340)
2012
14
Comparative effectiveness of cognitive behavioral therapy for insomnia: a systematic review. (22631616)
2012
15
Soft tissue infection caused by Burkholderia cepacia in a child with polyarteritis nodosa. (23692797)
2012
16
Review on the annual cancer risk of Barrett's esophagus in persons with symptoms of gastroesophageal reflux disease. (23225453)
2012
17
Human papilloma virus attributable head and neck cancer in the sudan assessed by p16INK4A immunostaining. (23464408)
2012
18
Intra-abdominal hypertension and abdominal compartment syndrome in nontrauma surgical patients. (21944455)
2011
19
CFTR: break a pump, make a channel. (20080601)
2010
20
Inflammation and neurogenic hypertension: a new role for the circumventricular organs? (20651292)
2010
21
Human endogenous retrovirus protein Rec interacts with the testicular zinc-finger protein and androgen receptor. (20147518)
2010
22
Fates and osteogenic differentiation potential of human mesenchymal stem cells in immunocompromised mice. (18417247)
2008
23
Penicillin resistance in the intestinal spirochaete Brachyspira pilosicoli associated with OXA-136 and OXA-137, two new variants of the class D beta-lactamase OXA-63. (18719182)
2008
24
Language used in Lake Louise Scoring System underestimates symptoms of acute mountain sickness in 4- to 11-year-old children. (17584006)
2007
25
The effect of heparin-functionalized PEG hydrogels on three-dimensional human mesenchymal stem cell osteogenic differentiation. (16963119)
2007
26
Modulation of vaginal immune response among pregnant women with bacterial vaginosis by Trichomonas vaginalis, Chlamydia trachomatis, Neisseria gonorrhoeae, and yeast. (17306653)
2007
27
Adenoendocrine cell carcinoma of the gallbladder: report of a case. (16937295)
2006
28
Changing antenatal sonographic appearance of anorectal atresia from first to third trimesters. (16731896)
2006
29
Widespread loss of neuronal populations in the spinal ventral horn in sporadic motor neuron disease. A morphometric study. (16487542)
2006
30
Patterns of resistance and incomplete response to docetaxel by gene expression profiling in breast cancer patients. (15718313)
2005
31
Diagnosis of atelosteogenesis type II after a routine echography at 12 weeks' pregnancy. (16052470)
2005
32
Platelet microparticles: a transcellular delivery system for RANTES promoting monocyte recruitment on endothelium. (15890969)
2005
33
Effect of long-term Se deficiency on the antioxidant capacities of rat vascular tissue. (15051902)
2004
34
Adipocyte-fatty acid binding protein induces apoptosis in DU145 prostate cancer cells. (15500004)
2004
35
Dopaminergic and opioidergic regulation of gonadotropin and prolactin release in stallions. (12464071)
2002
36
Close correlation between restriction fragment length polymorphism of L-myc gene and susceptibility to gastric cancer. (12507230)
2002
37
Restoration of E-cadherin/beta-catenin expression in pancreatic cancer cells inhibits growth by induction of apoptosis. (12219004)
2002
38
Diagnosis of recurrent intermittent airway obstruction ("recurrent croup") in children. (11465816)
2001
39
Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (10810093)
2000
40
The influence of the degree of cerebral atherosclerosis on the changes in hemostatic system in patients with ischemic brain disease and atherosclerotic encephalopathy. (10645149)
1999
41
Cerebral blood flow and the development of ammonia-induced brain edema in rats after portacaval anastomosis. (10498637)
1999
42
The use of myoglobin/carbonic anhydrase III ratio as a marker for myocardial damage in patients with renal failure. (9352127)
1997
43
Soluble intercellular adhesion molecule 1 (ICAM-1) antigen in sera of bronchial asthmatics. (8549228)
1996
44
In vitro tumor growth inhibition by bispecific antibodies to human transferrin receptor and tumor-associated antigens is augmented by the iron chelator deferoxamine. (8764564)
1996
45
Atypical xanthomatosis in apolipoprotein E-deficient mice after cholesterol feeding. (7772082)
1995
46
Role of interleukin-6 in mediating the acute phase protein response and potential as an early means of severity assessment in acute pancreatitis. (7679365)
1993
47
Calorimetric measurements of thermal denaturation of stefins A and B. Comparison to predicted thermodynamics of stefin-B unfolding. (1446674)
1992
48
Yaws truly--a survey of patients indexed under 'yaws' and a review of the clinical and laboratory problems of diagnosis. (3519012)
1986
49
Ventricular aneurysm, arrhythmia and open heart operation in a patient with dextrocardia. (4440953)
1974
50
Unicameral bone cyst. Appraisal of experience at the American University Hospital of Beirut. (4594347)
1973

Variations for Von Hippel-Lindau Syndrome

About this section

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

67 (show all 104)
id Symbol AA change Variation ID SNP ID
1VHLp.Ser38ProVAR_005670
2VHLp.Glu52LysVAR_005671
3VHLp.Ser65LeuVAR_005672
4VHLp.Ser65TrpVAR_005673
5VHLp.Ser68TrpVAR_005675
6VHLp.Glu70LysVAR_005676
7VHLp.Val74GlyVAR_005677rs5030803
8VHLp.Phe76IleVAR_005679
9VHLp.Phe76LeuVAR_005680
10VHLp.Phe76SerVAR_005681
11VHLp.Asn78HisVAR_005682
12VHLp.Asn78SerVAR_005683rs5030804
13VHLp.Asn78ThrVAR_005684
14VHLp.Arg79ProVAR_005685
15VHLp.Ser80IleVAR_005686
16VHLp.Ser80ArgVAR_005687
17VHLp.Ser80AsnVAR_005688rs5030805
18VHLp.Pro81SerVAR_005689rs5030806
19VHLp.Arg82ProVAR_005690
20VHLp.Val84LeuVAR_005692rs5030827
21VHLp.Pro86AlaVAR_005693
22VHLp.Pro86LeuVAR_005694
23VHLp.Pro86ArgVAR_005695
24VHLp.Pro86SerVAR_005696
25VHLp.Trp88ArgVAR_005697
26VHLp.Trp88SerVAR_005698
27VHLp.Leu89ProVAR_005700rs5030807
28VHLp.Gly93CysVAR_005703rs5030808
29VHLp.Gly93AspVAR_005704
30VHLp.Gly93SerVAR_005705rs5030808
31VHLp.Gln96ProVAR_005706
32VHLp.Tyr98HisVAR_005707rs5030809
33VHLp.Leu101GlyVAR_005708
34VHLp.Leu101ArgVAR_005709
35VHLp.Thr105ProVAR_005711
36VHLp.Arg107ProVAR_005713
37VHLp.Ser111CysVAR_005714
38VHLp.Ser111AsnVAR_005715
39VHLp.Ser111ArgVAR_005716
40VHLp.Tyr112HisVAR_005717
41VHLp.Gly114CysVAR_005718
42VHLp.Gly114ArgVAR_005719
43VHLp.Gly114SerVAR_005720
44VHLp.His115TyrVAR_005722rs5030811
45VHLp.His115GlnVAR_005723
46VHLp.Leu116ValVAR_005724
47VHLp.Trp117CysVAR_005725
48VHLp.Leu118ProVAR_005726rs5030830
49VHLp.Leu118ArgVAR_005727
50VHLp.Phe119LeuVAR_005728
51VHLp.Phe119SerVAR_005729
52VHLp.Asp121GlyVAR_005730rs5030832
53VHLp.Leu128PheVAR_005731
54VHLp.Val130LeuVAR_005733
55VHLp.Asn131LysVAR_005734
56VHLp.Asn131ThrVAR_005735
57VHLp.Phe136SerVAR_005736
58VHLp.Phe136CysVAR_005737rs5030833
59VHLp.Asp143GluVAR_005738
60VHLp.Ala149ThrVAR_005740
61VHLp.Pro154LeuVAR_005741
62VHLp.Val155GlyVAR_005742
63VHLp.Tyr156CysVAR_005743
64VHLp.Tyr156AspVAR_005744
65VHLp.Thr157IleVAR_005746
66VHLp.Leu158ProVAR_005748
67VHLp.Leu158ValVAR_005749
68VHLp.Lys159GluVAR_005750
69VHLp.Arg161GlnVAR_005751
70VHLp.Arg161ProVAR_005752
71VHLp.Arg161GlyVAR_005753rs5030818
72VHLp.Cys162PheVAR_005754
73VHLp.Cys162ArgVAR_005755
74VHLp.Cys162TrpVAR_005756rs5030622
75VHLp.Cys162TyrVAR_005757
76VHLp.Gln164ArgVAR_005758
77VHLp.Val166PheVAR_005759
78VHLp.Arg167GlyVAR_005760
79VHLp.Arg167GlnVAR_005761rs5030821
80VHLp.Arg167TrpVAR_005762rs5030820
81VHLp.Val170AspVAR_005763
82VHLp.Val170PheVAR_005764
83VHLp.Val170GlyVAR_005765
84VHLp.Tyr175AspVAR_005766
85VHLp.Leu178ProVAR_005768
86VHLp.Leu178GlnVAR_005769rs5030822
87VHLp.Ile180ValVAR_005770
88VHLp.Leu184ArgVAR_005771
89VHLp.Leu184ProVAR_005772
90VHLp.Glu186LysVAR_005773
91VHLp.Leu188ProVAR_005775
92VHLp.Leu188GlnVAR_005776
93VHLp.Leu188ValVAR_005777rs5030824
94VHLp.Leu198ArgVAR_005778
95VHLp.Arg200TrpVAR_005779rs28940298
96VHLp.Pro86HisVAR_008097
97VHLp.His115ArgVAR_008098rs5030812
98VHLp.Phe136TyrVAR_008099
99VHLp.Gln145HisVAR_008100
100VHLp.Val155MetVAR_008101
101VHLp.Gln164HisVAR_008102
102VHLp.Val166AspVAR_008103
103VHLp.Arg176TrpVAR_008104
104VHLp.Tyr112AsnVAR_034992

Clinvar genetic disease variations for Von Hippel-Lindau Syndrome:

5 (show all 123)
id Gene Variation Type Significance SNP ID Assembly Location
1VHLNM_000551.3(VHL): c.445G> T (p.Ala149Ser)single nucleotide variantPathogenicrs587780077GRCh37Chr 3, 10188302: 10188302
2VHLNM_000551.3(VHL): c.-75_-55del21deletionLikely pathogenicrs727503744GRCh37Chr 3, 10183457: 10183477
3VHLNM_000551.3(VHL): c.351G> T (p.Trp117Cys)single nucleotide variantPathogenicrs727504215GRCh37Chr 3, 10188208: 10188208
4VHLNC_000003.12: g.(?_10149787)_(10149965_?)deldeletionPathogenicGRCh37Chr 3, 10191471: 10191649
5VHLNM_000551.3(VHL): c.256C> T (p.Pro86Ser)single nucleotide variantLikely pathogenic, Pathogenicrs398123481GRCh37Chr 3, 10183787: 10183787
6VHLNM_000551.3(VHL): c.477delA (p.Glu160Serfs)deletionPathogenicrs730882020GRCh37Chr 3, 10191484: 10191484
7VHLNM_000551.3(VHL): c.194C> T (p.Ser65Leu)single nucleotide variantPathogenicrs5030826GRCh37Chr 3, 10183725: 10183725
8VHLNM_000551.3(VHL): c.257C> T (p.Pro86Leu)single nucleotide variantPathogenicrs730882034GRCh37Chr 3, 10183788: 10183788
9VHLNM_000551.3(VHL): c.263G> A (p.Trp88Ter)single nucleotide variantPathogenicrs119103277GRCh37Chr 3, 10183794: 10183794
10VHLNM_000551.3(VHL): c.266T> C (p.Leu89Pro)single nucleotide variantPathogenicrs5030807GRCh38Chr 3, 10142113: 10142113
11VHLNM_000551.3(VHL): c.473T> C (p.Leu158Pro)single nucleotide variantPathogenicrs121913346GRCh37Chr 3, 10191480: 10191480
12VHLNM_000551.3(VHL): c.482G> A (p.Arg161Gln)single nucleotide variantPathogenicrs730882035GRCh37Chr 3, 10191489: 10191489
13VHLNM_000551.3(VHL): c.245G> C (p.Arg82Pro)single nucleotide variantPathogenicrs794726890GRCh37Chr 3, 10183776: 10183776
14VHLNM_000551.3(VHL): c.449delA (p.Asn150Ilefs)deletionPathogenicrs794727253GRCh37Chr 3, 10188306: 10188306
15VHLNM_000551.3(VHL): c.586A> T (p.Lys196Ter)single nucleotide variantPathogenicrs281860296GRCh37Chr 3, 10191593: 10191593
16VHLNM_000551.3(VHL): c.293A> Csingle nucleotide variantLikely pathogenicrs864321643GRCh37Chr 3, 10183824: 10183824
17VHLNM_000551.3(VHL): c.337C> Tsingle nucleotide variantPathogenicrs5030810GRCh37Chr 3, 10183868: 10183868
18VHLNM_000551.3(VHL): c.258delCdeletionPathogenicrs864622545GRCh38Chr 3, 10142105: 10142105
19VHLNM_000551.3(VHL): c.223_225delATC (p.Ile75del)deletionPathogenicrs794729660GRCh37Chr 3, 10183754: 10183756
20VHLNM_000551.3(VHL): c.548C> A (p.Ser183Ter)single nucleotide variantPathogenicrs5030823GRCh37Chr 3, 10191555: 10191555
21VHLNM_000551.3(VHL): c.500G> A (p.Arg167Gln)single nucleotide variantPathogenicrs5030821GRCh37Chr 3, 10191507: 10191507
22VHLNM_000551.3(VHL): c.481C> T (p.Arg161Ter)single nucleotide variantPathogenicrs5030818GRCh37Chr 3, 10191488: 10191488
23VHLNM_000551.3(VHL): c.499C> T (p.Arg167Trp)single nucleotide variantPathogenicrs5030820GRCh37Chr 3, 10191506: 10191506
24VHLNM_000551.3(VHL): c.499C> G (p.Arg167Gly)single nucleotide variantPathogenicrs5030820GRCh37Chr 3, 10191506: 10191506
25VHLNM_000551.3(VHL): c.263G> C (p.Trp88Ser)single nucleotide variantPathogenicrs119103277GRCh37Chr 3, 10183794: 10183794
26VHLNM_000551.3(VHL): c.334T> C (p.Tyr112His)single nucleotide variantPathogenicrs104893824GRCh37Chr 3, 10183865: 10183865
27VHLNM_000551.3(VHL): c.292T> C (p.Tyr98His)single nucleotide variantPathogenicrs5030809GRCh37Chr 3, 10183823: 10183823
28VHLNM_000551.3(VHL): c.496G> T (p.Val166Phe)single nucleotide variantPathogenicrs104893825GRCh37Chr 3, 10191503: 10191503
29VHLNM_000551.3(VHL): c.562C> G (p.Leu188Val)single nucleotide variantPathogenicrs5030824GRCh37Chr 3, 10191569: 10191569
30VHLNM_000551.3(VHL): c.191G> C (p.Arg64Pro)single nucleotide variantLikely pathogenic, Pathogenicrs104893826GRCh37Chr 3, 10183722: 10183722
31VHLNM_000551.3(VHL): c.334T> A (p.Tyr112Asn)single nucleotide variantPathogenicrs104893824GRCh37Chr 3, 10183865: 10183865
32VHLNM_000551.3(VHL): c.388G> C (p.Val130Leu)single nucleotide variantPathogenicrs104893830GRCh37Chr 3, 10188245: 10188245
33VHLNM_000551.3(VHL): c.163dupG (p.Glu55Glyfs)duplicationPathogenicrs869025615GRCh37Chr 3, 10183694: 10183694
34VHLNM_000551.3(VHL): c.193T> G (p.Ser65Ala)single nucleotide variantLikely pathogenicrs869025616GRCh37Chr 3, 10183724: 10183724
35VHLNM_000551.3(VHL): c.194C> A (p.Ser65Ter)single nucleotide variantPathogenicrs5030826GRCh37Chr 3, 10183725: 10183725
36VHLNM_000551.3(VHL): c.203C> A (p.Ser68Ter)single nucleotide variantPathogenicrs869025617GRCh37Chr 3, 10183734: 10183734
37VHLNM_000551.3(VHL): c.214T> C (p.Ser72Pro)single nucleotide variantLikely pathogenicrs869025618GRCh37Chr 3, 10183745: 10183745
38VHLNM_000551.3(VHL): c.217C> T (p.Gln73Ter)single nucleotide variantPathogenicrs869025619GRCh37Chr 3, 10183748: 10183748
39VHLNM_000551.3(VHL): c.221delT (p.Val74Alafs)deletionPathogenicrs869025620GRCh37Chr 3, 10183752: 10183752
40VHLNM_000551.3(VHL): c.227_229delTCT (p.Phe76del)deletionPathogenicrs5030648GRCh37Chr 3, 10183758: 10183760
41VHLNM_000551.3(VHL): c.232A> T (p.Asn78Tyr)single nucleotide variantLikely pathogenicrs869025621GRCh37Chr 3, 10183763: 10183763
42VHLNM_000551.3(VHL): c.233A> C (p.Asn78Thr)single nucleotide variantLikely pathogenicrs5030804GRCh37Chr 3, 10183764: 10183764
43VHLNM_000551.3(VHL): c.233A> T (p.Asn78Ile)single nucleotide variantPathogenicrs5030804GRCh38Chr 3, 10142080: 10142080
44VHLNM_000551.3(VHL): c.257C> G (p.Pro86Arg)single nucleotide variantLikely pathogenicrs730882034GRCh37Chr 3, 10183788: 10183788
45VHLNM_000551.3(VHL): c.264G> T (p.Trp88Cys)single nucleotide variantLikely pathogenicrs869025622GRCh37Chr 3, 10183795: 10183795
46VHLNM_000551.3(VHL): c.269A> T (p.Asn90Ile)single nucleotide variantLikely pathogenicrs143985153GRCh37Chr 3, 10183800: 10183800
47VHLNM_000551.3(VHL): c.269delA (p.Asn90Thrfs)deletionPathogenicrs869025623GRCh38Chr 3, 10142116: 10142116
48VHLNM_000551.3(VHL): c.277G> C (p.Gly93Arg)single nucleotide variantLikely pathogenicrs5030808GRCh38Chr 3, 10142124: 10142124
49VHLNM_000551.3(VHL): c.277G> T (p.Gly93Cys)single nucleotide variantPathogenicrs5030808GRCh37Chr 3, 10183808: 10183808
50VHLNM_000551.3(VHL): c.293A> G (p.Tyr98Cys)single nucleotide variantPathogenicrs864321643GRCh38Chr 3, 10142140: 10142140
51VHLNM_000551.3(VHL): c.293dupA (p.Tyr98Terfs)duplicationPathogenicrs869025624GRCh37Chr 3, 10183824: 10183824
52VHLNM_000551.3(VHL): c.296dupC (p.Thr100Asnfs)duplicationPathogenicrs869025625GRCh38Chr 3, 10142143: 10142143
53VHLNM_000551.3(VHL): c.300dupG (p.Leu101Alafs)duplicationPathogenicrs869025626GRCh37Chr 3, 10183831: 10183831
54VHLNM_000551.3(VHL): c.309delT (p.Gly104Alafs)deletionPathogenicrs869025627GRCh37Chr 3, 10183840: 10183840
55VHLNM_000551.3(VHL): c.309dupT (p.Gly104Trpfs)duplicationPathogenicrs869025628GRCh37Chr 3, 10183840: 10183840
56VHLNM_000551.3(VHL): c.311_340+20deldeletionLikely pathogenicrs869025629GRCh37Chr 3, 10183842: 10183891
57VHLNM_000551.3(VHL): c.311G> T (p.Gly104Val)single nucleotide variantLikely pathogenicrs869025630GRCh38Chr 3, 10142158: 10142158
58VHLNM_000551.3(VHL): c.320G> A (p.Arg107His)single nucleotide variantLikely pathogenicrs193922609GRCh37Chr 3, 10183851: 10183851
59VHLNM_000551.3(VHL): c.332G> A (p.Ser111Asn)single nucleotide variantPathogenicrs869025631GRCh37Chr 3, 10183863: 10183863
60VHLNM_000551.3(VHL): c.333C> G (p.Ser111Arg)single nucleotide variantLikely pathogenicrs765978945GRCh37Chr 3, 10183864: 10183864
61VHLNM_000551.3(VHL): c.335_340+5del11deletionPathogenicrs869025632GRCh37Chr 3, 10183866: 10183876
62VHLNM_000551.3(VHL): c.340+1G> Asingle nucleotide variantPathogenicrs730882032GRCh37Chr 3, 10183872: 10183872
63VHLNM_000551.3(VHL): c.340+2_340+6deldeletionPathogenicrs869025634GRCh37Chr 3, 10183873: 10183877
64VHLNM_000551.3(VHL): c.340G> C (p.Gly114Arg)single nucleotide variantPathogenicrs869025636GRCh37Chr 3, 10183871: 10183871
65VHLNM_000551.3(VHL): c.341-2A> Gsingle nucleotide variantPathogenicrs869025637GRCh37Chr 3, 10188196: 10188196
66VHLNM_000551.3(VHL): c.341delG (p.Gly114Valfs)deletionPathogenicrs869025638GRCh37Chr 3, 10188198: 10188198
67VHLNM_000551.3(VHL): c.351delG (p.Trp117Cysfs)deletionPathogenicrs869025640GRCh37Chr 3, 10188208: 10188208
68VHLNM_000551.3(VHL): c.352_353insA (p.Leu118Hisfs)insertionPathogenicrs869025641GRCh38Chr 3, 10146525: 10146526
69VHLNM_000551.3(VHL): c.358A> G (p.Arg120Gly)single nucleotide variantLikely pathogenicrs869025642GRCh38Chr 3, 10146531: 10146531
70VHLNM_000551.3(VHL): c.362A> G (p.Asp121Gly)single nucleotide variantPathogenicrs5030832GRCh37Chr 3, 10188219: 10188219
71VHLNM_000551.3(VHL): c.374A> C (p.His125Pro)single nucleotide variantPathogenicrs869025643GRCh38Chr 3, 10146547: 10146547
72VHLNM_000551.3(VHL): c.374_375delAC (p.His125Argfs)deletionPathogenicrs869025644GRCh37Chr 3, 10188231: 10188232
73VHLNM_000551.3(VHL): c.381_382delGCinsTT (p.Leu128Phe)indelLikely pathogenicrs869025645GRCh37Chr 3, 10188238: 10188239
74VHLNM_000551.3(VHL): c.402delA (p.Glu134Aspfs)deletionPathogenicrs869025646GRCh37Chr 3, 10188259: 10188259
75VHLNM_000551.3(VHL): c.189_192delGCGC (p.Ser65Terfs)deletionPathogenicrs869025647GRCh38Chr 3, 10142036: 10142039
76VHLNM_000551.3(VHL): c.414A> G (p.Pro138=)single nucleotide variantLikely pathogenicrs869025648GRCh37Chr 3, 10188271: 10188271
77VHLNM_000551.3(VHL): c.419_420delTC (p.Leu140Glnfs)deletionPathogenicrs869025649GRCh38Chr 3, 10146592: 10146593
78VHLNM_000551.3(VHL): c.430G> T (p.Gly144Ter)single nucleotide variantLikely pathogenicrs869025650GRCh38Chr 3, 10146603: 10146603
79VHLNM_000551.3(VHL): c.431delG (p.Gly144Aspfs)deletionPathogenicrs869025651GRCh37Chr 3, 10188288: 10188288
80VHLNM_000551.3(VHL): c.435_436delGC (p.Gln145Hisfs)deletionPathogenicrs869025652GRCh38Chr 3, 10146608: 10146609
81VHLNM_000551.3(VHL): c.444dupT (p.Ala149Cysfs)duplicationPathogenicrs869025653GRCh37Chr 3, 10188301: 10188301
82VHLNM_000551.3(VHL): c.444delT (p.Phe148Leufs)deletionPathogenicrs869025654GRCh37Chr 3, 10188301: 10188301
83VHLNM_000551.3(VHL): c.445G> A (p.Ala149Thr)single nucleotide variantPathogenicrs587780077GRCh37Chr 3, 10188302: 10188302
84VHLNM_000551.3(VHL): c.452T> G (p.Ile151Ser)single nucleotide variantPathogenicrs869025655GRCh38Chr 3, 10146625: 10146625
85VHLNM_000551.3(VHL): c.454_463+17deldeletionPathogenicrs869025656GRCh37Chr 3, 10188311: 10188337
86VHLNM_000551.3(VHL): c.463+1G> Csingle nucleotide variantPathogenicrs869025657GRCh37Chr 3, 10188321: 10188321
87VHLNM_000551.3(VHL): c.464-1G> Csingle nucleotide variantPathogenicrs5030817GRCh38Chr 3, 10149786: 10149786
88VHLNM_000551.3(VHL): c.464-1G> Tsingle nucleotide variantPathogenicrs5030817GRCh38Chr 3, 10149786: 10149786
89VHLNM_000551.3(VHL): c.464-2A> Gsingle nucleotide variantPathogenicrs5030816GRCh37Chr 3, 10191469: 10191469
90VHLNM_000551.3(VHL): c.470C> T (p.Thr157Ile)single nucleotide variantPathogenicrs869025660GRCh38Chr 3, 10149793: 10149793
91VHLNM_000551.3(VHL): c.471dupT (p.Leu158Serfs)duplicationLikely pathogenicrs869025661GRCh37Chr 3, 10191478: 10191478
92VHLNM_000551.3(VHL): c.485G> A (p.Cys162Tyr)single nucleotide variantPathogenicrs397516444GRCh38Chr 3, 10149808: 10149808
93VHLNM_000551.3(VHL): c.486C> A (p.Cys162Ter)single nucleotide variantLikely pathogenicrs869025662GRCh38Chr 3, 10149809: 10149809
94VHLNM_000551.3(VHL): c.486C> G (p.Cys162Trp)single nucleotide variantPathogenicrs869025662GRCh37Chr 3, 10191493: 10191493
95VHLNM_000551.3(VHL): c.490C> T (p.Gln164Ter)single nucleotide variantLikely pathogenicrs5030819GRCh37Chr 3, 10191497: 10191497
96VHLNM_000551.3(VHL): c.496_506delGTCCGGAGCCT (p.Val166Serfs)deletionLikely pathogenicrs869025663GRCh38Chr 3, 10149819: 10149829
97VHLNM_000551.3(VHL): c.555C> G (p.Tyr185Ter)single nucleotide variantPathogenicrs864622109GRCh38Chr 3, 10149878: 10149878
98VHLNM_000551.3(VHL): c.587_590dupAAGA (p.Asp197Glufs)duplicationLikely pathogenicrs869025666GRCh38Chr 3, 10149910: 10149913
99VHLNM_000551.3(VHL): c.593T> C (p.Leu198Pro)single nucleotide variantLikely pathogenicrs869025667GRCh37Chr 3, 10191600: 10191600
100VHLNM_000551.3(VHL): c.641G> T (p.Ter214Leu)single nucleotide variantLikely pathogenicrs869025668GRCh38Chr 3, 10149964: 10149964
101VHLNM_000551.3(VHL): c.250G> T (p.Val84Leu)single nucleotide variantPathogenicrs5030827GRCh37Chr 3, 10183781: 10183781
102VHLNM_000551.3(VHL): c.277G> A (p.Gly93Ser)single nucleotide variantPathogenicrs5030808GRCh37Chr 3, 10183808: 10183808
103VHLNM_000551.3(VHL): c.491A> G (p.Gln164Arg)single nucleotide variantPathogenicrs267607170GRCh37Chr 3, 10191498: 10191498
104VHLNM_000551.3(VHL): c.(?_-1)_(*1_?)deldeletionPathogenic
105VHLNM_000551.3(VHL): c.242C> T (p.Pro81Leu)single nucleotide variantLikely pathogenicrs193922608GRCh37Chr 3, 10183773: 10183773
106VHLNM_000551.3(VHL): c.320G> C (p.Arg107Pro)single nucleotide variantLikely pathogenic, Pathogenicrs193922609GRCh37Chr 3, 10183851: 10183851
107VHLNM_000551.3(VHL): c.371C> T (p.Thr124Ile)single nucleotide variantLikely pathogenicrs193922610GRCh37Chr 3, 10188228: 10188228
108VHLNM_000551.3(VHL): c.458T> A (p.Leu153Gln)single nucleotide variantLikely pathogenicrs193922611GRCh37Chr 3, 10188315: 10188315
109VHLNM_000551.3(VHL): c.524A> G (p.Tyr175Cys)single nucleotide variantLikely pathogenicrs193922613GRCh37Chr 3, 10191531: 10191531
110VHLp.X214Trpsingle nucleotide variantLikely pathogenic
111VHLNM_000551.3(VHL): c.194C> G (p.Ser65Trp)single nucleotide variantPathogenicrs5030826GRCh37Chr 3, 10183725: 10183725
112VHLNM_000551.3(VHL): c.208G> A (p.Glu70Lys)single nucleotide variantPathogenicrs5030802GRCh37Chr 3, 10183739: 10183739
113VHLNM_000551.3(VHL): c.319C> G (p.Arg107Gly)single nucleotide variantPathogenicrs397516440GRCh37Chr 3, 10183850: 10183850
114VHLNM_000551.3(VHL): c.467A> G (p.Tyr156Cys)single nucleotide variantPathogenicrs397516441GRCh37Chr 3, 10191474: 10191474
115VHLNM_000551.3(VHL): c.408delT (p.Phe136Leufs)deletionPathogenicrs397516442GRCh37Chr 3, 10188265: 10188265
116VHLNM_000551.3(VHL): c.463+2T> Gsingle nucleotide variantLikely pathogenicrs397516443GRCh37Chr 3, 10188322: 10188322
117VHLNM_000551.3(VHL): c.464-1G> Asingle nucleotide variantPathogenicrs5030817GRCh37Chr 3, 10191470: 10191470
118VHLNM_000551.3(VHL): c.485G> T (p.Cys162Phe)single nucleotide variantPathogenicrs397516444GRCh37Chr 3, 10191492: 10191492
119VHLNM_000551.3(VHL): c.497T> C (p.Val166Ala)single nucleotide variantPathogenicrs397516445GRCh37Chr 3, 10191504: 10191504
120VHLNM_000551.3(VHL): c.233A> G (p.Asn78Ser)single nucleotide variantPathogenicrs5030804GRCh37Chr 3, 10183764: 10183764
121VHLNM_000551.3(VHL): c.256C> G (p.Pro86Ala)single nucleotide variantLikely pathogenic, Pathogenicrs398123481GRCh37Chr 3, 10183787: 10183787
122VHLNM_000551.3(VHL): c.326T> A (p.Ile109Asn)single nucleotide variantLikely pathogenicrs398123482GRCh37Chr 3, 10183857: 10183857
123VHLNM_000551.3(VHL): c.501_502insTTGTCCGT (p.Ser168Leufs)insertionPathogenicrs398123483GRCh37Chr 3, 10191508: 10191509

Cosmic variations for Von Hippel-Lindau Syndrome:

7 (show top 50)    (show all 4183)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
1COSM18346VHLkidney,NS,carcinoma,clear cell renal cell carcinoma3
2COSM18346VHLkidney,NS,carcinoma,clear cell renal cell carcinoma3
3COSM18346VHLkidney,NS,carcinoma,clear cell renal cell carcinoma3
4COSM18346VHLkidney,NS,carcinoma,clear cell renal cell carcinoma3
5COSM18343VHLkidney,NS,carcinoma,clear cell renal cell carcinoma3
6COSM18343VHLkidney,NS,carcinoma,clear cell renal cell carcinoma3
7COSM18343VHLkidney,NS,carcinoma,clear cell renal cell carcinoma3
8COSM18346VHLkidney,NS,carcinoma,clear cell renal cell carcinoma3
9COSM18346VHLkidney,NS,carcinoma,clear cell renal cell carcinoma3
10COSM18351VHLkidney,NS,carcinoma,clear cell renal cell carcinoma3
11COSM18351VHLkidney,NS,carcinoma,clear cell renal cell carcinoma3
12COSM18351VHLkidney,NS,carcinoma,clear cell renal cell carcinoma3
13COSM18351VHLkidney,NS,carcinoma,clear cell renal cell carcinoma3
14COSM18346VHLkidney,NS,carcinoma,clear cell renal cell carcinoma3
15COSM18346VHLkidney,NS,carcinoma,clear cell renal cell carcinoma3
16COSM18346VHLkidney,NS,carcinoma,clear cell renal cell carcinoma3
17COSM18328VHLkidney,NS,carcinoma,clear cell renal cell carcinoma3
18COSM18328VHLkidney,NS,carcinoma,clear cell renal cell carcinoma3
19COSM18289VHLkidney,NS,carcinoma,clear cell renal cell carcinoma3
20COSM18289VHLkidney,NS,carcinoma,clear cell renal cell carcinoma3
21COSM18289VHLkidney,NS,carcinoma,clear cell renal cell carcinoma3
22COSM18289VHLkidney,NS,carcinoma,clear cell renal cell carcinoma3
23COSM18289VHLkidney,NS,carcinoma,clear cell renal cell carcinoma3
24COSM18289VHLkidney,NS,carcinoma,clear cell renal cell carcinoma3
25COSM18289VHLkidney,NS,carcinoma,clear cell renal cell carcinoma3
26COSM18289VHLkidney,NS,carcinoma,clear cell renal cell carcinoma3
27COSM18290VHLkidney,NS,carcinoma,clear cell renal cell carcinoma3
28COSM18290VHLkidney,NS,carcinoma,clear cell renal cell carcinoma3
29COSM18328VHLkidney,NS,carcinoma,clear cell renal cell carcinoma3
30COSM18290VHLkidney,NS,carcinoma,clear cell renal cell carcinoma3
31COSM18290VHLkidney,NS,carcinoma,clear cell renal cell carcinoma3
32COSM18290VHLkidney,NS,carcinoma,clear cell renal cell carcinoma3
33COSM18290VHLkidney,NS,carcinoma,clear cell renal cell carcinoma3
34COSM18351VHLkidney,NS,carcinoma,clear cell renal cell carcinoma3
35COSM18351VHLkidney,NS,carcinoma,clear cell renal cell carcinoma3
36COSM18355VHLkidney,NS,carcinoma,clear cell renal cell carcinoma3
37COSM18355VHLkidney,NS,carcinoma,clear cell renal cell carcinoma3
38COSM18355VHLkidney,NS,carcinoma,clear cell renal cell carcinoma3
39COSM18355VHLkidney,NS,carcinoma,clear cell renal cell carcinoma3
40COSM18355VHLkidney,NS,carcinoma,clear cell renal cell carcinoma3
41COSM18353VHLkidney,NS,carcinoma,clear cell renal cell carcinoma3
42COSM18355VHLkidney,NS,carcinoma,clear cell renal cell carcinoma3
43COSM18358VHLkidney,NS,carcinoma,clear cell renal cell carcinoma3
44COSM18358VHLkidney,NS,carcinoma,clear cell renal cell carcinoma3
45COSM18374VHLkidney,NS,carcinoma,clear cell renal cell carcinoma3
46COSM18374VHLkidney,NS,carcinoma,clear cell renal cell carcinoma3
47COSM18374VHLkidney,NS,carcinoma,clear cell renal cell carcinoma3
48COSM18372VHLkidney,NS,carcinoma,clear cell renal cell carcinoma3
49COSM18372VHLkidney,NS,carcinoma,clear cell renal cell carcinoma3
50COSM18358VHLkidney,NS,carcinoma,clear cell renal cell carcinoma3

Expression for genes affiliated with Von Hippel-Lindau Syndrome

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

Pathways for genes affiliated with Von Hippel-Lindau Syndrome

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GO Terms for genes affiliated with Von Hippel-Lindau Syndrome

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of extrinsic apoptotic signaling pathway in absence of ligandGO:200124110.5NF1, RET
2response to X-rayGO:001016510.5CCND1, HIF1A
3mammary gland alveolus developmentGO:006074910.5CCND1, VEGFA
4artery morphogenesisGO:004884410.4NF1, VEGFA
5positive regulation of cell sizeGO:004579310.4HIF1A, RET
6positive regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:006141910.4HIF1A, VEGFA
7regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:006141810.3HIF1A, VEGFA
8hemoglobin biosynthetic processGO:004254110.1HIF1A, INHA
9negative regulation of TOR signalingGO:003200710.1HIF1A, TSC2
10positive regulation of neuroblast proliferationGO:00020529.9HIF1A, VEGFA
11cerebral cortex developmentGO:00219879.5HIF1A, NF1, NPY
12cellular response to hypoxiaGO:00714569.4HIF1A, VEGFA, VHL
13positive chemotaxisGO:00509189.3MET, TSC2, VEGFA
14regulation of cell cycleGO:00517269.1CCND1, INHA, TSC2
15signal transductionGO:00071657.6HIF1A, INHA, MET, NF1, RASSF1, RET

Sources for Von Hippel-Lindau Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet