MCID: VNH007
MIFTS: 68

Von Hippel-Lindau Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Cardiovascular diseases, Nephrological diseases, Endocrine diseases, Fetal diseases, Cancer diseases categories

Aliases & Classifications for Von Hippel-Lindau Syndrome

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

Aliases & Descriptions for Von Hippel-Lindau Syndrome:

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


Classifications:



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


External Ids:

OMIM49 193300
Disease Ontology10 DOID:14175
MeSH36 D006623
NCIt42 C3105
Orphanet51 892
SNOMED-CT59 46659004
ICD10 via Orphanet28 Q85.8
MESH via Orphanet37 D006623
UMLS via Orphanet66 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 paragangliomas 1, with or without deafness and pheochromocytoma, and has symptoms including sensorineural hearing impairment, nystagmus and pancreatic cysts. An important gene associated with Von Hippel-Lindau Syndrome is VHL (Von Hippel-Lindau Tumor Suppressor, E3 Ubiquitin Protein Ligase), and among its related pathways are Citrate cycle (TCA cycle) and Signaling events mediated by VEGFR1 and VEGFR2. Affiliated tissues include kidney, brain and retina, and related mouse phenotypes are limbs/digits/tail and craniofacial.

NIH Rare Diseases:45 Von hippel-lindau (vhl) disease is a genetic multi-system disorder characterized by the abnormal growth of tumors in certain parts of the body (angiomatosis). the specific tumors that are associated with vhl disease include hemangioblastomas (tumors comprised of a nest of blood vessels) of the brain, spinal cord, and retina; kidney cysts and clear cell kidney cell carcinoma; pheochromocytoma (a type of noncancerous tumor that affects the adrenal glands, which are the small hormone-producing glands located on top of each kidney); and endolymphatic sac tumors (a type of tumor of the inner ear area called the endolymphatic sac). mutations in the vhl gene cause vhl disease. these mutations are  inherited in an autosomal dominant pattern. 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. last updated: 6/9/2015

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 characterized by the abnormal growth of tumors in certain parts of the body. The tumors of the central nervous system (CNS) are benign and are comprised of a nest of blood vessels and are called hemangioblastomas. Hemangioblastomas may develop in the brain, the retina of the eyes, and other areas of the nervous system. Other types of tumors develop in the adrenal glands, the kidneys, or the pancreas. Symptoms of VHL vary among patients 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, and high blood pressure. Cysts (fluid-filled sacs) and/or tumors (benign or cancerous) may develop around the hemangioblastomas and cause the symptoms listed above. Individuals with VHL are also at a higher risk than normal for certain types of cancer, especially kidney cancer.

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.

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 vhl

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 350)
idRelated DiseaseScoreTop Affiliating Genes
1paragangliomas 1, with or without deafness30.8SDHB, SDHC, SDHD
2pheochromocytoma30.3CHGA, CHGB, MEN1, NF1, NPY, PNMT
3cell type cancer30.0CCND1, CHGA, MEN1, RET, VHL
4renal cell carcinoma29.9CCND1, HIF1A, MET, SDHB, SDHD, TCEB2
5kidney disease29.1HIF1A, MET, RASSF1, SDHB, TCEB2, TSC2
6prostate cancer28.6CCND1, CHGA, HIF1A, INHA, MET, RASSF1
7hemangioblastoma10.9
8angiomatosis10.8
9adenoma10.8
10phaeochromocytoma10.7
11nervous system cancer10.7
12vascular cancer10.7
13multiple endocrine neoplasia10.7
14adult syndrome10.7
15hemangioma10.7
16blood protein disease10.7
17nervous system disease10.7
18central nervous system hemangioma10.7
19pancreatitis10.7
20retinal disease10.7
21retinal vascular disease10.7
22n syndrome10.6
23islet cell tumor10.6
24good syndrome10.6
25adenocarcinoma10.6
26hereditary renal cell carcinoma10.6
27wells syndrome10.6
28hemangioma, hereditary10.6
29renal cell carcinoma, papillary10.6
30foster-kennedy syndrome10.6
31collecting duct carcinoma10.6
32paraganglioma10.6
33globe disease10.6
34kidney cancer10.6
35neuroendocrine tumor10.6
36optic nerve disease10.6
37retinal cancer10.6
38vascular disease10.6
39stroke, ischemic10.6
40physical disorder10.6
41neurologic diseases10.6
42angioma hereditary neurocutaneous10.6
43apudoma10.6
44c syndrome10.5
45macular dystrophy, dominant cystoid10.5
46williams-beuren syndrome10.5
47retinoblastoma10.5
48pancreatic cancer10.5
49pancreatic serous cystadenoma10.5
50cystadenoma10.5

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 52)
id Description Frequency HPO Source Accession
1 sensorineural hearing impairment hallmark (90%) HP:0000407
2 nystagmus hallmark (90%) HP:0000639
3 pancreatic cysts hallmark (90%) HP:0001737
4 neurological speech impairment hallmark (90%) HP:0002167
5 aplasia/hypoplasia of the cerebellum hallmark (90%) HP:0007360
6 abnormality of the retinal vasculature hallmark (90%) HP:0008046
7 renal neoplasm hallmark (90%) HP:0009726
8 arteriovenous malformation hallmark (90%) HP:0100026
9 abnormality of the cerebral vasculature hallmark (90%) HP:0100659
10 visceral angiomatosis hallmark (90%) HP:0100761
11 multicystic kidney dysplasia typical (50%) HP:0000003
12 hydrocephalus typical (50%) HP:0000238
13 visual impairment typical (50%) HP:0000505
14 gait disturbance typical (50%) HP:0001288
15 nausea and vomiting typical (50%) HP:0002017
16 migraine typical (50%) HP:0002076
17 incoordination typical (50%) HP:0002311
18 hemiplegia/hemiparesis typical (50%) HP:0004374
19 teleangiectasia of the skin typical (50%) HP:0100585
20 polycystic kidney dysplasia occasional (7.5%) HP:0000113
21 glaucoma occasional (7.5%) HP:0000501
22 visual impairment occasional (7.5%) HP:0000505
23 cataract occasional (7.5%) HP:0000518
24 retinal detachment occasional (7.5%) HP:0000541
25 hyperhidrosis occasional (7.5%) HP:0000975
26 abnormality of the macula occasional (7.5%) HP:0001103
27 increased intracranial pressure occasional (7.5%) HP:0002516
28 arrhythmia occasional (7.5%) HP:0011675
29 neuroendocrine neoplasm occasional (7.5%) HP:0100634
30 hypertensive crisis occasional (7.5%) HP:0100735
31 abnormality of the lymphatic system occasional (7.5%) HP:0100763
32 neoplasm of the middle ear occasional (7.5%) HP:0100799
33 autosomal dominant inheritance HP:0000006
34 tinnitus HP:0000360
35 sensorineural hearing impairment HP:0000407
36 hypertension HP:0000822
37 abnormality of the liver HP:0001392
38 pancreatic cysts HP:0001737
39 polycythemia HP:0001901
40 vertigo HP:0002321
41 pheochromocytoma HP:0002666
42 paraganglioma HP:0002668
43 neoplasm of the pancreas HP:0002894
44 phenotypic variability HP:0003812
45 multiple renal cysts HP:0005562
46 renal cell carcinoma HP:0005584
47 pulmonary capillary hemangiomatosis HP:0005954
48 cerebellar hemangioblastoma HP:0006880
49 retinal capillary hemangioma HP:0009711
50 spinal hemangioblastoma HP:0009713
51 papillary cystadenoma of the epididymis HP:0009715
52 epididymal cyst HP:0030424

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 19)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Sirolimusapproved, investigationalPhase 3174253123-88-95284616, 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
2
Miconazoleapproved, investigationalPhase 3291222916-47-84189
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
3
EverolimusapprovedPhase 31742159351-69-66442177
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
4tyrosineNutraceuticalPhase 3547
5
Sunitinibapproved, investigationalPhase 2, Phase 1472341031-54-7, 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
6
PancrelipaseapprovedPhase 283953608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
Creon
PA
Pancreatic alpha-amylase precursor
Pancreaze
 
Pancrelipase
Pertzye
Polocaine-mpf
Ultresa
Viokace
Zenpep
7
VatalanibinvestigationalPhase 239212141-54-3151194
Synonyms:
1-(4-chloroanilino)-4-(4-pyridylmethyl)phthalazine succinate
CGP79787
PTK 787
 
PTK/ZK
PTK787
PTK787/ZK 222584
ZK222584
vatalanib
8RadiopharmaceuticalsPhase 2345
9Fluorodeoxyglucose F18Phase 2340
10
SomatostatinPhase 214151110-01-153481605
Synonyms:
growth hormone-inhibiting hormone (GHIH)
 
somatotropin release-inhibiting factor (SRIF)
somatotropin release-inhibiting hormone
11Freund's AdjuvantPhase 293
12pancreatinPhase 2839
13
Bevacizumabapproved, investigationalPhase 1, Phase 01820216974-75-3
Synonyms:
216974-75-3
Avastin
Avastin (TN)
Bevacizumab
Bevacizumab (genetical recombination)
 
Bevacizumab (genetical recombination) (JAN)
D06409
R-435
anti-VEGF monoclonal antibody
antiVEGF
bevacizumab
14
Vorinostatapproved, investigationalPhase 1234149647-78-95311
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
15
Sorafenibapproved, investigational653284461-73-0216239, 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
16
Norepinephrineapproved20651-41-2439260
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
17
Epinephrineapproved76851-43-45816
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
18Racepinephrine768
19Epinephryl borate768

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
2 Von Hippel-Lindau Syndrome24
3 Von Hippel-Lindau24

Anatomical Context for Von Hippel-Lindau Syndrome

About this section

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

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

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 20)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.9HIF1A, MET, NF1, RET, VEGFA, VHL
2MP:00053828.6CCND1, HIF1A, MEN1, MET, NF1, VEGFA
3MP:00053698.5HIF1A, MEN1, MET, NF1, RET, VEGFA
4MP:00053817.9CCND1, HIF1A, INHA, MEN1, MET, NPY
5MP:00053897.8CCND1, CHGA, INHA, MEN1, RET, TSC2
6MP:00053807.7HIF1A, MEN1, MET, NF1, RET, SDHD
7MP:00053677.5CHGA, HIF1A, MET, NF1, NPY, RET
8MP:00053707.5HIF1A, INHA, MEN1, MET, NF1, NPY
9MP:00053867.4CCND1, HIF1A, MET, NF1, NPY, RET
10MP:00053846.8CCND1, HIF1A, MEN1, MET, NF1, RASSF1
11MP:00053876.7CCND1, HIF1A, INHA, MEN1, MET, NF1
12MP:00036316.6CCND1, CHGB, HIF1A, MEN1, MET, NF1
13MP:00053786.4CCND1, CHGA, HIF1A, INHA, MEN1, MET
14MP:00020066.3CCND1, HIF1A, INHA, MEN1, MET, NF1
15MP:00053796.2CCND1, CHGA, CHGB, HIF1A, INHA, MEN1
16MP:00028736.2CCND1, HIF1A, INHA, MET, NF1, NPY
17MP:00053855.8CCND1, CHGA, HIF1A, INHA, MEN1, MET
18MP:00107685.8CCND1, CHGA, HIF1A, INHA, MEN1, MET
19MP:00053764.6CCND1, 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
Renal cell carcinoma to haemangioblastoma metastasis: a rare manifestation of Von Hippel-Lindau syndrome. (25088480)
2015
2
A novel mutation links to von Hippel-Lindau syndrome in a Chinese family with hemangioblastoma. (25966224)
2015
3
Genotype-phenotype analysis of von Hippel-Lindau syndrome in fifteen Indian families. (25952756)
2015
4
Von Hippel-Lindau Syndrome. (26279462)
2015
5
Assessment of tumor growth in von Hippel Lindau syndrome. (25700900)
2015
6
From arterial hypertension complications to von Hippel-Lindau syndrome diagnosis. (26268347)
2015
7
Pheochromocytoma screening initiation and frequency in von Hippel-Lindau syndrome. (26451910)
2015
8
Use of sunitinib in a 30-year-old woman with pancreatic neuroendocrine tumors associated with Von Hippel-Lindau syndrome. (24921213)
2015
9
Massive exudative retinal detachment following photodynamic therapy for retinal hemangioma in von Hippel-Lindau Syndrome. (24632330)
2014
10
Clinical presentation of Von Hippel Lindau syndrome type 2B associated with VHL p.A149S mutation in a large Turkish family. (23673869)
2014
11
Assessment of tumor growth in pancreatic neuroendocrine tumors in von Hippel Lindau syndrome. (24440063)
2014
12
Laparoscopic Adrenalectomy in a Patient of Von Hippel Lindau Syndrome with Ventriculo-Peritoneal Shunt-Anaesthetic management. (25386452)
2014
13
Biliary and gastric drainage in advanced pancreatic serous cystadenoma and portal hypertension in Von Hippel-Lindau syndrome. (24772348)
2014
14
Manifestations of Von Hippel Lindau syndrome: a retrospective national review. (24352051)
2014
15
Clear cell papillary renal cell carcinoma in patients with von Hippel-Lindau syndrome--clinicopathological features and comparative genomic analysis of 3 cases. (25081542)
2014
16
Von Hippel-Lindau syndrome: demonstration of entire disease spectrum with (68)Ga-DOTANOC PET-CT. (24497809)
2014
17
68Ga DOTANOC PET/CT aiding in the diagnosis of von Hippel-Lindau syndrome by detecting cerebellar hemangioblastoma and adrenal pheochromocytoma. (24999687)
2014
18
Von hippel-lindau syndrome: diagnosis and management of hemangioblastoma and pheochromocytoma. (23781388)
2013
19
p.N78S and p.R161Q germline mutations of the VHL gene are present in von Hippel-Lindau syndrome in two pedigrees. (23842656)
2013
20
Bilateral Laparoscopic adrenalectomy due to a phaeochromocytoma in Von Hippel-Lindau Syndrome: a technique with 4 trocars. (22591617)
2012
21
Midline basifrontal solid hemangioblastoma in non von hippel lindau syndrome patient. (23189014)
2012
22
Partial adrenalectomy minimizes the need for long-term hormone replacement in pediatric patients with pheochromocytoma and von Hippel-Lindau syndrome. (23164001)
2012
23
Molecular basis of von Hippel-Lindau syndrome in Chinese patients. (21362373)
2011
24
Spinal hemangioblastoma of cauda equina origin not associated with von Hippel-Lindau syndrome--case report. (22027253)
2011
25
Re: Functional and oncologic outcomes of partial adrenalectomy for pheochromocytoma in patients with von Hippel-Lindau syndrome after at least 5 years of followup. J. N. Benhammou, R. S. Boris, K. Pacak, P. A. Pinto, W. M. Linehan and G. Bratslavsky. J Urol 2010;184:1855-1859. (21511290)
2011
26
Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndrome. (19906784)
2010
27
Epididymal cyst in von Hippel-Lindau syndrome: clinicopathologic analysis of 3 cases]. (20369698)
2010
28
Clinicopathologic study of von Hippel-Lindau syndrome-related and sporadic hemangioblastomas of central nervous system]. (20450758)
2010
29
Large germline deletion of the VHL gene in Chinese families with von Hippel-Lindau syndrome]. (19806577)
2009
30
Hypogonadotrophic hypogonadism due to intrasellar hemangioblastoma in von Hippel-Lindau syndrome. (19215058)
2009
31
Parasympathetic paragangliomas are part of the Von Hippel-Lindau syndrome. (19808854)
2009
32
Indium-111 pentetreotide uptake within cerebellar hemangioblastoma in von Hippel-lindau syndrome. (18356676)
2008
33
Proteomic profiling of von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2 pheochromocytomas reveals different expression of chromogranin B. (17639059)
2007
34
Renal cell carcinoma in a von Hippel-Lindau syndrome: when should phaeochromocytoma be anticipated? (17657389)
2007
35
Germ line mutations in Chinese kindreds with von Hippel-Lindau syndrome]. (17407064)
2007
36
Ruptured intracranial aneurysm associated with von Hippel-Lindau syndrome: a molecular link? (16506495)
2006
37
Transcriptional regulation of phenylethanolamine N-methyltransferase in pheochromocytomas from patients with von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2. (17102092)
2006
38
Consider von Hippel-Lindau syndrome in young patients presenting with retinal angioma and phaeochromocytoma. (16176477)
2005
39
Neuroimaging of phakomatoses: Sturge-Weber syndrome, tuberous sclerosis, von Hippel-Lindau syndrome. (15182814)
2004
40
Distinct gene expression profiles in norepinephrine- and epinephrine-producing hereditary and sporadic pheochromocytomas: activation of hypoxia-driven angiogenic pathways in von Hippel-Lindau syndrome. (15613462)
2004
41
Optic nerve glioma in a patient with von Hippel-Lindau syndrome. (12580276)
2003
42
Pheochromocytomas in von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2 display distinct biochemical and clinical phenotypes. (11344198)
2001
43
Genotype-phenotype correlation in von Hippel-Lindau syndrome. (11257110)
2001
44
Differential genetic alterations in von Hippel-Lindau syndrome-associated and sporadic pheochromocytomas. (11134110)
2000
45
Von Hippel-Lindau Syndrome (25905347)
2000
46
Expression of vascular endothelial growth factor in von Hippel-Lindau syndrome-associated papillary cystadenoma of the epididymis. (9824115)
1998
47
Functioning carotid paraganglioma in the von Hippel-Lindau syndrome. (9880225)
1998
48
Von Hippel-Lindau syndrome: hereditary cancer arising from inherited mutations of the VHL tumor suppressor gene. (9239471)
1996
49
Von Hippel-Lindau syndrome. (7670659)
1995
50
von Hippel-Lindau syndrome: cloning and identification of the plasma membrane Ca(++)-transporting ATPase isoform 2 gene that resides in the von Hippel-Lindau gene region. (8428366)
1993

Variations for Von Hippel-Lindau Syndrome

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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 41)
id Gene Variation Type Significance SNP ID Assembly Location
1VHLNM_000551.3(VHL): c.-75_-55del21deletionLikely pathogenicrs727503744GRCh37Chr 3, 10183457: 10183477
2VHLNM_000551.3(VHL): c.351G> T (p.Trp117Cys)single nucleotide variantPathogenicrs727504215GRCh37Chr 3, 10188208: 10188208
3VHLNC_000003.12: g.(?_10149787)_(10149965_?)deldeletionPathogenicGRCh37Chr 3, 10191471: 10191649
4VHLNM_000551.3(VHL): c.256C> T (p.Pro86Ser)single nucleotide variantLikely pathogenicrs398123481GRCh37Chr 3, 10183787: 10183787
5VHLNM_000551.3(VHL): c.194C> T (p.Ser65Leu)single nucleotide variantPathogenicrs5030826GRCh38Chr 3, 10142041: 10142041
6VHLNM_000551.3(VHL): c.245G> C (p.Arg82Pro)single nucleotide variantPathogenicrs794726890GRCh37Chr 3, 10183776: 10183776
7VHLNM_000551.3(VHL): c.449delA (p.Asn150Ilefs)deletionPathogenicrs794727253GRCh37Chr 3, 10188306: 10188306
8VHLNM_000551.3(VHL): c.586A> T (p.Lys196Ter)single nucleotide variantPathogenicrs281860296GRCh37Chr 3, 10191593: 10191593
9VHLNM_000551.3(VHL): c.223_225delATC (p.Ile75del)deletionPathogenicrs794729660GRCh37Chr 3, 10183754: 10183756
10VHLNM_000551.3(VHL): c.500G> A (p.Arg167Gln)single nucleotide variantPathogenicrs5030821GRCh37Chr 3, 10191507: 10191507
11VHLNM_000551.3(VHL): c.481C> T (p.Arg161Ter)single nucleotide variantPathogenicrs5030818GRCh37Chr 3, 10191488: 10191488
12VHLNM_000551.3(VHL): c.499C> T (p.Arg167Trp)single nucleotide variantPathogenicrs5030820GRCh37Chr 3, 10191506: 10191506
13VHLNM_000551.3(VHL): c.499C> G (p.Arg167Gly)single nucleotide variantPathogenicrs5030820GRCh37Chr 3, 10191506: 10191506
14VHLNM_000551.3(VHL): c.263G> C (p.Trp88Ser)single nucleotide variantPathogenicrs119103277GRCh37Chr 3, 10183794: 10183794
15VHLNM_000551.3(VHL): c.334T> C (p.Tyr112His)single nucleotide variantPathogenicrs104893824GRCh37Chr 3, 10183865: 10183865
16VHLNM_000551.3(VHL): c.292T> C (p.Tyr98His)single nucleotide variantPathogenicrs5030809GRCh37Chr 3, 10183823: 10183823
17VHLNM_000551.3(VHL): c.496G> T (p.Val166Phe)single nucleotide variantPathogenicrs104893825GRCh37Chr 3, 10191503: 10191503
18VHLNM_000551.3(VHL): c.562C> G (p.Leu188Val)single nucleotide variantPathogenicrs5030824GRCh37Chr 3, 10191569: 10191569
19VHLNM_000551.3(VHL): c.334T> A (p.Tyr112Asn)single nucleotide variantPathogenicrs104893824GRCh37Chr 3, 10183865: 10183865
20VHLNM_000551.3(VHL): c.388G> C (p.Val130Leu)single nucleotide variantPathogenicrs104893830GRCh37Chr 3, 10188245: 10188245
21VHLNM_000551.3(VHL): c.250G> T (p.Val84Leu)single nucleotide variantPathogenicrs5030827GRCh37Chr 3, 10183781: 10183781
22VHLNM_000551.3(VHL): c.491A> G (p.Gln164Arg)single nucleotide variantPathogenicrs267607170GRCh37Chr 3, 10191498: 10191498
23VHLNM_000551.3(VHL): c.242C> T (p.Pro81Leu)single nucleotide variantLikely pathogenicrs193922608GRCh37Chr 3, 10183773: 10183773
24VHLNM_000551.3(VHL): c.320G> C (p.Arg107Pro)single nucleotide variantLikely pathogenicrs193922609GRCh37Chr 3, 10183851: 10183851
25VHLNM_000551.3(VHL): c.371C> T (p.Thr124Ile)single nucleotide variantLikely pathogenicrs193922610GRCh37Chr 3, 10188228: 10188228
26VHLNM_000551.3(VHL): c.458T> A (p.Leu153Gln)single nucleotide variantLikely pathogenicrs193922611GRCh37Chr 3, 10188315: 10188315
27VHLNM_000551.3(VHL): c.524A> G (p.Tyr175Cys)single nucleotide variantLikely pathogenicrs193922613GRCh37Chr 3, 10191531: 10191531
28VHLp.X214Trpsingle nucleotide variantLikely pathogenic
29VHLNM_000551.3(VHL): c.194C> G (p.Ser65Trp)single nucleotide variantPathogenicrs5030826GRCh37Chr 3, 10183725: 10183725
30VHLNM_000551.3(VHL): c.208G> A (p.Glu70Lys)single nucleotide variantPathogenicrs5030802GRCh37Chr 3, 10183739: 10183739
31VHLNM_000551.3(VHL): c.319C> G (p.Arg107Gly)single nucleotide variantPathogenicrs397516440GRCh37Chr 3, 10183850: 10183850
32VHLNM_000551.3(VHL): c.467A> G (p.Tyr156Cys)single nucleotide variantPathogenicrs397516441GRCh37Chr 3, 10191474: 10191474
33VHLNM_000551.3(VHL): c.408delT (p.Phe136Leufs)deletionPathogenicrs397516442GRCh37Chr 3, 10188265: 10188265
34VHLNM_000551.3(VHL): c.463+2T> Gsingle nucleotide variantLikely pathogenicrs397516443GRCh37Chr 3, 10188322: 10188322
35VHLNM_000551.3(VHL): c.464-1G> Asingle nucleotide variantPathogenicrs5030817GRCh37Chr 3, 10191470: 10191470
36VHLNM_000551.3(VHL): c.485G> T (p.Cys162Phe)single nucleotide variantPathogenicrs397516444GRCh37Chr 3, 10191492: 10191492
37VHLNM_000551.3(VHL): c.497T> C (p.Val166Ala)single nucleotide variantPathogenicrs397516445GRCh37Chr 3, 10191504: 10191504
38VHLNM_000551.3(VHL): c.233A> G (p.Asn78Ser)single nucleotide variantPathogenicrs5030804GRCh37Chr 3, 10183764: 10183764
39VHLNM_000551.3(VHL): c.256C> G (p.Pro86Ala)single nucleotide variantPathogenicrs398123481GRCh37Chr 3, 10183787: 10183787
40VHLNM_000551.3(VHL): c.326T> A (p.Ile109Asn)single nucleotide variantLikely pathogenicrs398123482GRCh37Chr 3, 10183857: 10183857
41VHLNM_000551.3(VHL): c.501_502insTTGTCCGT (p.Ser168Leufs)insertionPathogenicrs398123483GRCh37Chr 3, 10191508: 10191509

Cosmic variations for Von Hippel-Lindau Syndrome:

7 (show all 14)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
128750IDH1central nervous system,brain,other,neoplasm3
228749IDH1central nervous system,brain,other,neoplasm3
328746IDH1central nervous system,brain,other,neoplasm3
428747IDH1central nervous system,brain,other,neoplasm3
528748IDH1central nervous system,brain,other,neoplasm3
617666VHLadrenal gland,adrenal gland,pheochromocytoma,malignant3
717662VHLadrenal gland,adrenal gland,pheochromocytoma,malignant3
814311VHLadrenal gland,adrenal gland,pheochromocytoma,malignant3
917665VHLadrenal gland,adrenal gland,pheochromocytoma,malignant3
10486HRASadrenal gland,adrenal gland,pheochromocytoma,benign3
11499HRASadrenal gland,adrenal gland,pheochromocytoma,benign3
12496HRASadrenal gland,adrenal gland,pheochromocytoma,benign3
13329089NF1adrenal gland,adrenal gland,pheochromocytoma,benign3
14965RETadrenal gland,adrenal gland,pheochromocytoma,benign3

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

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8SDHB, SDHC, SDHD
2
Show member pathways
9.7HIF1A, VEGFA, VHL
3
Show member pathways
9.6CCND1, HIF1A, VEGFA
49.5TCEB2, VEGFA, VHL
59.4HIF1A, TCEB2, VHL
69.2HIF1A, MET, RET
79.2CCND1, NF1, TSC2, VEGFA
89.2CCND1, RASSF1, VEGFA
99.1HIF1A, TCEB2, VEGFA, VHL
10
Show member pathways
9.1HIF1A, TCEB2, VEGFA, VHL
119.1HIF1A, TCEB2, VEGFA, VHL
129.0CCND1, HIF1A, MET, VEGFA
138.6CCND1, MET, RASSF1, VEGFA
14
Show member pathways
8.5HIF1A, MET, TCEB2, VEGFA, VHL
15
Show member pathways
8.0CCND1, MET, NF1, RASSF1, TSC2
167.2CCND1, HIF1A, MET, RASSF1, RET, TCEB2

GO Terms for genes affiliated with Von Hippel-Lindau Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1respiratory chain complex IIGO:004527310.3SDHB, SDHC
2VCB complexGO:003089110.1TCEB2, VHL
3mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone)GO:000574910.1SDHB, SDHC, SDHD
4secretory granuleGO:00301419.5CHGA, CHGB, VEGFA

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

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1hemoglobin biosynthetic processGO:004254110.4HIF1A, INHA
2dopaminergic neuron differentiationGO:007154210.4HIF1A, VEGFA
3positive regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:006141910.4HIF1A, VEGFA
4tricarboxylic acid cycleGO:000609910.3SDHB, SDHC, SDHD
5positive regulation of vascular endothelial growth factor receptor signaling pathwayGO:003094910.3HIF1A, VEGFA
6camera-type eye morphogenesisGO:004859310.3NF1, VEGFA
7positive regulation of extrinsic apoptotic signaling pathway in absence of ligandGO:200124110.1NF1, RET
8positive regulation of p38MAPK cascadeGO:190074510.0MET, VEGFA
9mammary gland alveolus developmentGO:006074910.0CCND1, VEGFA
10negative regulation of cell cycle arrestGO:00711579.9CCND1, RASSF1
11respiratory electron transport chainGO:00229049.9SDHB, SDHC, SDHD
12lactationGO:00075959.7CCND1, HIF1A, VEGFA
13positive regulation of endothelial cell proliferationGO:00019389.7HIF1A, NF1, VEGFA
14liver developmentGO:00018899.6CCND1, MET, NF1
15regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:00614189.6HIF1A, TCEB2, VEGFA, VHL
16cerebral cortex developmentGO:00219879.3HIF1A, NF1, NPY
17positive chemotaxisGO:00509189.3MET, TSC2, VEGFA
18cellular response to hypoxiaGO:00714569.0HIF1A, TCEB2, VEGFA, VHL
19response to hypoxiaGO:00016668.7HIF1A, NF1, TSC2, VEGFA

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

idNameGO IDScoreTop Affiliating Genes
1succinate dehydrogenase activityGO:000010410.4SDHC, SDHD
2ubiquinone bindingGO:004803910.4SDHB, SDHD
3succinate dehydrogenase (ubiquinone) activityGO:000817710.4SDHB, SDHC
4electron carrier activityGO:00090559.8SDHB, SDHC, SDHD
5hormone activityGO:00051799.5CHGB, INHA, NPY

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