MCID: VNH007
MIFTS: 69

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:
50OMIM, 11Disease Ontology, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 52Orphanet, 68UniProtKB/Swiss-Prot, 12diseasecard, 66UMLS, 69Wikipedia, 47NINDS, 13DISEASES, 25GTR, 48Novoseek, 36MedlinePlus, 37MeSH, 28ICD10, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Von Hippel-Lindau Syndrome:

Name: Von Hippel-Lindau Syndrome 50 11 22 46 23 24 52 68 12 66
Von Hippel-Lindau Disease 11 69 46 23 24 47 13 52 68 25 48 36 37
Vhl Syndrome 46 23 24
Angiomatosis Retinae 23 24
Lindau Disease 23 52
Vhl 46 52
 
Von Hippel-Lindau Syndrome, Modifier of 50
Cerebelloretinal Angiomatosis, Familial 24
Familial Cerebelloretinal Angiomatosis 52
Hippel Lindau Syndrome 11
Hippel-Lindau Disease 24
Vhld 68

Characteristics:

Orphanet epidemiological data:

52
von hippel-lindau disease:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (United Kingdom); Age of onset: Adult; Age of death: elderly

HPO:

62
von hippel-lindau syndrome:
Inheritance: autosomal dominant inheritance
Onset and clinical course: phenotypic variability


Classifications:



External Ids:

OMIM50 193300
Disease Ontology11 DOID:14175
ICD1028 Q85.8
MeSH37 D006623
NCIt43 C3105
SNOMED-CT60 46659004
Orphanet52 ORPHA892
ICD10 via Orphanet29 Q85.8
MESH via Orphanet38 D006623
UMLS via Orphanet67 C0019562

Summaries for Von Hippel-Lindau Syndrome

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OMIM:50 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 paraganglioma 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), 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, spinal cord and brain, and related mouse phenotypes are craniofacial and reproductive system.

Genetics Home Reference:24 Von Hippel-Lindau syndrome is an inherited disorder characterized by the formation of tumors and fluid-filled sacs (cysts) in many different parts of the body. Tumors may be either noncancerous or cancerous and most frequently appear during young adulthood; however, the signs and symptoms of von Hippel-Lindau syndrome can occur throughout life.

NIH Rare Diseases:46 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:36 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:47 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:68 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).

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 114)
idRelated DiseaseScoreTop Affiliating Genes
1paraganglioma28.5CHGA, CHGB, NF1, NPY, PNMT, RET
2pheochromocytoma28.3CHGA, CHGB, MEN1, NF1, NPY, PNMT
3renal cell carcinoma28.2HIF1A, MET, RASSF1, SDHB, SDHD, TSC2
4cystadenoma27.5HIF1A, MET, RASSF1, SDHB, TSC2, VEGFA
5vhl-related pheochromocytoma12.3
6autosomal recessive secondary polycythemia not associated with vhl gene12.0
7hemangioblastoma11.2
8angiomatosis11.2
9pancreatic serous cystadenoma10.9
10endolymphatic sac tumor10.9
11pancreatitis, pediatric10.7SDHC, SDHD
12morbid obesity10.6INHA, VHL
13aicardi-goutieres syndrome10.6CHGA, VEGFA
14pancreatic serous cystic neoplasm10.6CHGA, VEGFA, VHL
15phaeochromocytoma10.5
16multiple endocrine neoplasia10.5
17torticollis, familial10.5SDHB, SDHC, SDHD
18neuroendocrine carcinoma of the cervix10.4SDHB, SDHC, SDHD
19carcinoid tumors, intestinal10.4SDHB, SDHC, SDHD
20paraganglioma and gastric stromal sarcoma10.4SDHB, SDHC, SDHD
21mercaptolactate-cysteine disulfiduria10.4SDHB, SDHC, SDHD
22gars-associated axonal neuropathy10.4HIF1A, VHL
23iridogoniodysgenesis and skeletal anomalies10.4HIF1A, VEGFA
24steroid-induced glaucoma10.4SDHB, SDHC, SDHD
25glycogen storage disease ib10.4SDHB, SDHC, SDHD
26pancreatic cancer10.4
27insulinoma10.4
28clear cell renal cell carcinoma10.4
29pseudoglandular variant testicular seminoma10.4CHGA, NF1
30pancreatitis10.4
31parathyroid transitional clear cell adenoma10.4CHGA, MEN1
32ataxia10.4TSC2, VHL
33cerebellar vermis medulloblastoma10.3CCND1, CHGA, VEGFA
34plasmacytoma10.3CCND1, CHGA, VEGFA
35brown-vialetto-van laere syndrome10.3CCND1, CHGA, VEGFA
36neuroendocrine tumor10.3
37pancreatic neuroendocrine tumor10.3
38hilar cholangiocellular carcinoma10.3HIF1A, VEGFA, VHL
39acute myeloblastic leukemia without maturation10.3HIF1A, VEGFA, VHL
40retinoschisis autosomal dominant10.3RET, SDHB, SDHD, VHL
41renal tubular transport disease10.3HIF1A, VEGFA, VHL
42ameloblastoma10.3RET, SDHB, SDHD, VHL
43mucinous cystadenocarcinoma10.2INHA, VEGFA
44lung abscess10.2RET, SDHB, SDHC, SDHD
45medullary thyroid carcinoma, familial10.2CHGA, MEN1, RET
46hemangioma10.2
47retinitis10.2
48endotheliitis10.2
49sporadic pheochromocytoma10.2
50ocular melanoma10.2TSC2, VEGFA, VHL

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:

 52 (show all 42)
  • multicystic kidney dysplasia
  • abnormality of the kidney
  • polycystic kidney dysplasia
  • hydrocephalus
  • hearing impairment
  • sensorineural hearing impairment
  • glaucoma
  • visual impairment
  • cataract
  • retinal detachment
  • visual loss
  • nystagmus
  • sensory neuropathy
  • hypertension
  • hyperhidrosis
  • ataxia
  • gait disturbance
  • abnormality of the pancreas
  • pancreatic cysts
  • nausea and vomiting
  • migraine
  • neurological speech impairment
  • increased intracranial pressure
  • neoplasm
  • pheochromocytoma
  • hemiplegia/hemiparesis
  • capillary hemangiomas
  • multiple renal cysts
  • renal cell carcinoma
  • aplasia/hypoplasia of the cerebellum
  • abnormality of the retinal vasculature
  • retinal hemangioblastoma
  • papillary cystadenoma of the epididymis
  • arrhythmia
  • arteriovenous malformation
  • teleangiectasia of the skin
  • neuroendocrine neoplasm
  • abnormality of the cerebral vasculature
  • vascular neoplasm
  • visceral angiomatosis
  • abnormality of the lymphatic system
  • neoplasm of the middle ear

HPO human phenotypes related to Von Hippel-Lindau Syndrome:

(show all 50)
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 telangiectasia 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 tinnitus HP:0000360
34 sensorineural hearing impairment HP:0000407
35 hypertension HP:0000822
36 abnormality of the liver HP:0001392
37 pancreatic cysts HP:0001737
38 polycythemia HP:0001901
39 vertigo HP:0002321
40 pheochromocytoma HP:0002666
41 paraganglioma HP:0002668
42 neoplasm of the pancreas HP:0002894
43 multiple renal cysts HP:0005562
44 renal cell carcinoma HP:0005584
45 pulmonary capillary hemangiomatosis HP:0005954
46 cerebellar hemangioblastoma HP:0006880
47 retinal capillary hemangioma HP:0009711
48 spinal hemangioblastoma HP:0009713
49 papillary cystadenoma of the epididymis HP:0009715
50 epididymal cyst HP:0030424

UMLS symptoms related to Von Hippel-Lindau Syndrome:


vertigo

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 21)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
EverolimusPhase 31863159351-69-66442177
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
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
Zortress
everolimus
2
sirolimusPhase 3186353123-88-95284616, 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
MiconazolePhase 3357322916-47-84189
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
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
Micantin (nitrate)
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
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
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
4tyrosineNutraceuticalPhase 3633
5
RanibizumabPhase 1, Phase 2469347396-82-1459903
Synonyms:
347396-82-1
D05697
Lucentis
Lucentis (TN)
 
Ranibizumab
Ranibizumab (USAN/INN)
Ranibizumab (genetical recombination)
Ranibizumab (genetical recombination) (JAN)
ranibizumab
rhuFab V2
6
VatalanibPhase 240212141-54-3151194
Synonyms:
1-(4-chloroanilino)-4-(4-pyridylmethyl)phthalazine succinate
CGP79787
PTK 787
 
PTK/ZK
PTK787
PTK787/ZK 222584
ZK222584
vatalanib
7
SunitinibPhase 2, Phase 1493341031-54-7, 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 (JAN/USAN)
Sunitinib malate [USAN]
Sunitinibum
Sutent
Sutent (TN)
Sutent, SU-11248
TL8002546
UNII-LVX8N1UT73
UNII-V99T50803M
sunitinib
sunitinibum
8
SomatostatinPhase 221238916-34-6, 51110-01-153481605
Synonyms:
growth hormone-inhibiting hormone (GHIH)
 
somatotropin release-inhibiting factor (SRIF)
somatotropin release-inhibiting hormone
9pancreatinPhase 2917
10
PancrelipasePhase 291753608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
PA
 
Pancreatic alpha-amylase precursor
Pancrelipase (amylase
lipase
protease)
11histidineNutraceuticalPhase 1, Phase 237
12
BevacizumabPhase 1, Phase 01938216974-75-3
Synonyms:
216974-75-3
Avastin
Avastin (TN)
Bevacizumab
Bevacizumab (genetical recombination)
 
Bevacizumab (genetical recombination) (JAN)
D06409
R-435
anti-VEGF monoclonal antibody
antiVEGF
bevacizumab
13
VorinostatPhase 1240149647-78-95311
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
14
Sorafenib681284461-73-0216239, 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 [INN]
Sorafenib tosylate
Sorafenibum
UNII-9ZOQ3TZI87
ZINC01493878
nchembio.117-comp17
sorafenib
sorafenibum
15
Norepinephrine66451-41-2439260
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
Nor-adrenaline
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
16
Epinephrine88651-43-45816
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
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
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 hydrochloride
Epinephrinum
Epinephrinum [INN-Latin]
Epipen
Epipen (TN)
Epipen Auto-Injector
Epipen EZ Pen
Epipen Jr.
Epipen Jr. Auto-Injector
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
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
17Vitamin B3Nutraceutical862
18
NiacinNutraceutical86259-67-6938
Synonyms:
3-Carboxylpyridine
3-Carboxypyridine
3-Pyridinecarboxylate
3-Pyridinecarboxylic acid
3-Pyridylcarboxylate
3-Pyridylcarboxylic acid
3-carboxypyridine
Acide Nicotinique
Acido nicotinico
Acidum Nicotinicum
Akotin
Anti-pellagra vitamin
Apelagrin
Daskil
Efacin
Enduracin
Linic
M-Pyridinecarboxylic Acid
Niac
Niacin
Niacine
Niacor
Nicacid
Nicamin
Nicangin
 
Nico-Span
Nicobid
Nicocap
Nicodelmine
Nicolar
Niconacid
Nicosan 3
Nicotinate
Nicotinic Acid
Nicotinic acid
Nicotinipca
Nicyl
Nikotinsaeure
Nyclin
P.P. factor
PP Factor
Pellagra preventive factor
Pellagrin
Pelonin
Pyridine-beta-carboxylic acid
Slo-niacin
Vitamin B3
Wampocap
beta-Pyridinecarboxylic acid
pyridine-β-carboxylic acid
β-pyridinecarboxylic acid
19FolateNutraceutical4143
20
Folic AcidNutraceutical414359-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
Folsaeure
 
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
21
NicotinamideNutraceutical85898-92-0936
Synonyms:
.beta.-Pyridinecarboxamide
11032-50-1
123574-63-0
1yc5
3 Pyridinecarboxamide
3-Carbamoylpyridine
3-Pyridinecarboxamide
3-Pyridinecarboxylic acid amide
37321-14-5
47865U_SUPELCO
55600-01-6
63748-44-7
72340_FLUKA
72340_SIGMA
72347_FLUKA
78731-47-2
98-92-0
A186B02E-6C70-4E54-9739-79398D439AAA
AC-907/25014114
AC1L1ACZ
AC1Q4ZFV
AI3-02906
Acid amide
Amid kyseliny nikotinove
Amid kyseliny nikotinove [Czech]
Amide PP
Aminicotin
Amixicotyn
Amnicotin
Astra Brand of Niacinamide
Austrovit PP
B 3, Vitamin
B3, Vitamin
BB_NC-2290
Benicot
C00153
C6H6N2O
CCRIS 1901
CHEBI:17154
CHEMBL1140
CID936
CPD000058212
D00036
D009536
DB02701
DEA No. 1405
Delonin Amide
Delonin amide
Dipegyl
Dipigyl
EINECS 202-713-4
EINECS 234-265-0
Endobion
Enduramide
Factor pp
HMS2052M21
HMS2090B05
HMS2093H03
HSDB 1237
Hansamid
I02-1741
I02-2250
InChI=1/C6H6N2O/c7-6(9)5-2-1-3-8-4-5/h1-4H,(H2,7,9
Inovitan PP
Jenapharm Brand of Niacinamide
Jenapharm, Nicotinsaureamid
LS-2051
MLS000069714
Mediatric
Merck Brand of Niacinamide
MolMap_000061
MolPort-001-783-876
N0078
N0636_SIGMA
N2142_SIGMA
N3376_SIGMA
N5535_SIAL
NAM
NCGC00093354-03
NCGC00093354-04
NSC 13128
NSC13128
NSC27452
Nandervit-N
Niacevit
Niacinamide
Niacinamide (USP)
Niacinamide Astra Brand
Niacinamide Jenapharm Brand
Niacinamide Merck Brand
 
Niacinamide Pharmagenix Brand
Niacinamide [USAN]
Niacinamide, Nicotinic acid amide, Nicotinamide
Niacotinamide
Niamide
Niavit PP
Nicamide
Nicamina
Nicamindon
Nicasir
Nicobion
Nicofort
Nicogen
Nicomidol
Nicosan 2
Nicosylamide
Nicota
Nicotamide
Nicotilamide
Nicotililamido
Nicotinamid
Nicotinamida
Nicotinamida [INN-Spanish]
Nicotinamide
Nicotinamide (JP15/INN)
Nicotinamide (Niacinamide)
Nicotinamide, niacin, vitamin B3
Nicotinamide-carbonyl-14C
Nicotinamidum
Nicotinamidum [INN-Latin]
Nicotine acid amide
Nicotine amide
Nicotinic acid amide
Nicotinic amide
Nicotinsaeureamid
Nicotinsaureamid
Nicotinsaureamid Jenapharm
Nicotinsaureamid [German]
Nicotol
Nicotylamide
Nicotylamidum
Nicovel
Nicovit
Nicovitina
Nicovitol
Nicozymin
Nictoamide
Nikasan
Nikazan
Niko-tamin
Nikotinamid
Nikotinsaeureamid
Nikotinsaeureamid [German]
Niocinamide
Niozymin
PP-Faktor
Papulex
Pelmin
Pelmine
Pelonin amide
Pharmagenix Brand of Niacinamide
Propamine A
Pyridine-3-carboxylic acid amide
S1899_Selleck
SAM001246860
SGCUT00176
SMR000058212
Savacotyl
UNII-25X51I8RD4
Vi-Nicotyl
Vi-noctyl
Vitamin B
Vitamin B (VAN)
Vitamin B 3
Vitamin B3
Vitamin H1
Vitamin PP
WLN: T6NJ CVZ
Witamina PP
ZINC00005878
b-Pyridinecarboxamide
beta-Pyridinecarboxamide
bmse000281
m-(Aminocarbonyl)pyridine
nchembio.154-comp4
nchembio.73-comp6
niacin - Vitamin B3
niacinamide
nicotinamide
pyridine-3-carboxamide
to_000073
vitamin PP

Interventional clinical trials:

(show all 34)
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
8Evaluation of 68Gallium-DOTATATE PET/CT for Detecting Neuroendocrine TumorsRecruitingNCT01967537Phase 2
9pazopanib_NCRCC,Ph2 STUDYRecruitingNCT01538238Phase 2
10Pazopanib in Von Hippel-Lindau (VHL) SyndromeActive, not recruitingNCT01436227Phase 2
11A Phase I/II Trial for Intravitreous Treatment of Severe Ocular Von Hippel-Lindau Disease Using a Combination of the PDGF Antagonist E10030 and the VEGF Antagonist RanibizumabNot yet recruitingNCT02859441Phase 1, Phase 2
12Evaluation of Sunitinib Malate in Patients With Von Hippel-Lindau Syndrome (VHL) Who Have VHL Lesions to FollowTerminatedNCT00330564Phase 2
13Sunitinib Malate to Treat Advanced Eye Disease in Patients With Von Hippel-Lindau SyndromeTerminatedNCT00673816Phase 1, Phase 2
14TKI 258 in Von Hippel-Lindau Syndrome (VHL)TerminatedNCT01266070Phase 2
15Vandetanib to Treat Advanced Kidney CancerTerminatedNCT01372813Phase 2
16Vaccine Therapy With Tumor Specific Mutated VHL Peptides in Adult Cancer Patients With Renal Cell CarcinomaTerminatedNCT00001703Phase 2
17EYE001 to Treat Retinal Tumors in Patients With Von Hippel-Lindau SyndromeCompletedNCT00056199Phase 1
18Ranibizumab Injections to Treat Retinal Tumors in Patients With Von Hippel-Lindau SyndromeCompletedNCT00089765Phase 1
19Effect of Vorinostat on Nervous System Hemangioblastomas in Von Hippel-Lindau Disease (Missense Mutation Only)Enrolling by invitationNCT02108002Phase 1
20Visualizing Vascular Endothelial Growth Factor (VEGF) Producing Lesions in Von Hippel-Lindau DiseaseCompletedNCT00970970
21Endolymphatic 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
22Genetic 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
23Effect of Sorafenib on ccRCC Uptake of Radiolabeled Bevacizumab or cG250CompletedNCT00602862
24Screening for Endolymphatic Sac Tumours (ELSTs) in Von Hippel-Lindau (vHL) PatientsRecruitingNCT02420067
25Natural History and Management of Pancreatic Lesions in Von Hippel-Lindau DiseaseRecruitingNCT00062166
26National Eye Institute Biorepository for Retinal DiseasesRecruitingNCT01496625
27Diagnosis of PheochromocytomaRecruitingNCT00004847
28Clinical Manifestations and Molecular Bases of Heritable Urologic Malignant DisordersRecruitingNCT00001238
29Von Hippel-Lindau Disease Genetic Epidemiology StudyActive, not recruitingNCT00001803
30Study of Brain and Spinal Cord Tumor Growth and Cyst Development in Patients With Von Hippel Lindau DiseaseActive, not recruitingNCT00005902
31Psychosocial Consequences of the Screening of Von Hippel Lindau Diseases for Patients Operated for a hémangioblastoma of Nervous Centrasl SystemActive, not recruitingNCT02120040
32Ruxolitinib for Chuvash PolycythemiaAvailableNCT01730755
33Assessment of Residual VHL Function in Tumors - Can it Predict the Patients' Individual Course of Disease?Enrolling by invitationNCT02207686
34Bevacizumab (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 Syndrome25
2 Von Hippel-Lindau25
3 Von Hippel-Lindau Disease23 VHL

Anatomical Context for Von Hippel-Lindau Syndrome

About this section

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

34
Kidney, Spinal cord, Brain, 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:

39 (show all 21)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.4CCND1, HIF1A, MEN1, MET, NF1, VEGFA
2MP:00053898.3CCND1, CHGA, INHA, MEN1, RET, TSC2
3MP:00053698.3HIF1A, MEN1, MET, NF1, RET, VEGFA
4MP:00053718.0HIF1A, MET, NF1, RET, VEGFA, VHL
5MP:00053907.8CCND1, HIF1A, INHA, NF1, NPY, SDHC
6MP:00053807.5HIF1A, MEN1, MET, NF1, RET, SDHD
7MP:00053877.2CCND1, HIF1A, INHA, MEN1, MET, NF1
8MP:00053816.9CCND1, HIF1A, INHA, MEN1, MET, NF1
9MP:00053676.9CHGA, HIF1A, MET, NF1, NPY, RET
10MP:00053846.8CCND1, HIF1A, MEN1, MET, NF1, RASSF1
11MP:00053706.6HIF1A, INHA, MEN1, MET, NF1, NPY
12MP:00036316.3CCND1, CHGB, HIF1A, MEN1, MET, NF1
13MP:00020066.3CCND1, HIF1A, INHA, MEN1, MET, NF1
14MP:00028735.6CCND1, HIF1A, INHA, MET, NF1, NPY
15MP:00053785.6CCND1, CHGA, HIF1A, INHA, MEN1, MET
16MP:00107685.4CCND1, CHGA, HIF1A, INHA, MEN1, MET
17MP:00053795.4CCND1, CHGA, CHGB, HIF1A, INHA, MEN1
18MP:00053855.3CCND1, CHGA, HIF1A, INHA, MEN1, MET
19MP:00053764.2CCND1, 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 72)
idTitleAuthorsYear
1
Manifestations of Von Hippel Lindau syndrome: a retrospective national review. (27284160)
2016
2
Surgical treatment of sporadic and von Hippel-Lindau syndrome-associated intramedullary hemangioblastomas. (27591060)
2016
3
Freiburg Neuropathology Case Conference : Petrosal mass lesion in a patient with von Hippel-Lindau syndrome. (27286949)
2016
4
Endolymphatic sac tumor in association with von Hippel-Lindau syndrome. (26991214)
2016
5
Renal cell carcinoma to haemangioblastoma metastasis: a rare manifestation of Von Hippel-Lindau syndrome. (25088480)
2015
6
VON HIPPEL LINDAU SYNDROME AND SURVEILLANCE: A FIVE YEAR FOLLOW UP CASE REPORT. (27004355)
2015
7
Genotype-phenotype analysis of von Hippel-Lindau syndrome in fifteen Indian families. (25952756)
2015
8
From arterial hypertension complications to von Hippel-Lindau syndrome diagnosis. (26268347)
2015
9
Pheochromocytoma screening initiation and frequency in von Hippel-Lindau syndrome. (26451910)
2015
10
Assessment of tumor growth in pancreatic neuroendocrine tumors in von Hippel Lindau syndrome. (24440063)
2014
11
Laparoscopic Adrenalectomy in a Patient of Von Hippel Lindau Syndrome with Ventriculo-Peritoneal Shunt-Anaesthetic management. (25386452)
2014
12
Biliary and gastric drainage in advanced pancreatic serous cystadenoma and portal hypertension in Von Hippel-Lindau syndrome. (24772348)
2014
13
Clear cell papillary renal cell carcinoma in patients with von Hippel-Lindau syndrome--clinicopathological features and comparative genomic analysis of 3 cases. (25081542)
2014
14
Paraplegia in a patient with Von Hippel Lindau syndrome: surgical and reconstructive treatment of Marjolin's ulcer. A case report. (25376307)
2014
15
Massive exudative retinal detachment following photodynamic therapy for retinal hemangioma in von Hippel-Lindau Syndrome. (24632330)
2014
16
Clinical presentation of Von Hippel Lindau syndrome type 2B associated with VHL p.A149S mutation in a large Turkish family. (23673869)
2014
17
Manifestations of Von Hippel Lindau syndrome: a retrospective national review. (24352051)
2014
18
Von hippel-lindau syndrome: diagnosis and management of hemangioblastoma and pheochromocytoma. (23781388)
2013
19
Long-term disease control with sunitinib in a patient with metastatic pancreatic neuroendocrine tumor (NET) associated with Von Hippel-Lindau syndrome (VHL). (22415670)
2012
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
Molecular basis of von Hippel-Lindau syndrome in Chinese patients. (21362373)
2011
23
Spinal hemangioblastoma of cauda equina origin not associated with von Hippel-Lindau syndrome--case report. (22027253)
2011
24
Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndrome. (19906784)
2010
25
Epididymal cyst in von Hippel-Lindau syndrome: clinicopathologic analysis of 3 cases]. (20369698)
2010
26
Clinicopathologic study of von Hippel-Lindau syndrome-related and sporadic hemangioblastomas of central nervous system]. (20450758)
2010
27
Hypogonadotrophic hypogonadism due to intrasellar hemangioblastoma in von Hippel-Lindau syndrome. (19215058)
2009
28
Parasympathetic paragangliomas are part of the Von Hippel-Lindau syndrome. (19808854)
2009
29
Large germline deletion of the VHL gene in Chinese families with von Hippel-Lindau syndrome]. (19806577)
2009
30
Indium-111 pentetreotide uptake within cerebellar hemangioblastoma in von Hippel-lindau syndrome. (18356676)
2008
31
Proteomic profiling of von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2 pheochromocytomas reveals different expression of chromogranin B. (17639059)
2007
32
Renal cell carcinoma in a von Hippel-Lindau syndrome: when should phaeochromocytoma be anticipated? (17657389)
2007
33
Germ line mutations in Chinese kindreds with von Hippel-Lindau syndrome]. (17407064)
2007
34
Ruptured intracranial aneurysm associated with von Hippel-Lindau syndrome: a molecular link? (16506495)
2006
35
Transcriptional regulation of phenylethanolamine N-methyltransferase in pheochromocytomas from patients with von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2. (17102092)
2006
36
Central nervous system hemangioblastoma and von Hippel-Lindau syndrome: a familial presentation. (16891280)
2006
37
Consider von Hippel-Lindau syndrome in young patients presenting with retinal angioma and phaeochromocytoma. (16176477)
2005
38
Different expression of catecholamine transporters in phaeochromocytomas from patients with von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2. (16189177)
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
Rapid and durable recovery of visual function in a patient with von hippel-lindau syndrome after systemic therapy with vascular endothelial growth factor receptor inhibitor su5416. (12208726)
2002
43
Pheochromocytomas in von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2 display distinct biochemical and clinical phenotypes. (11344198)
2001
44
Genotype-phenotype correlation in von Hippel-Lindau syndrome. (11257110)
2001
45
Differential genetic alterations in von Hippel-Lindau syndrome-associated and sporadic pheochromocytomas. (11134110)
2000
46
Expression of vascular endothelial growth factor in von Hippel-Lindau syndrome-associated papillary cystadenoma of the epididymis. (9824115)
1998
47
Von Hippel-Lindau syndrome: hereditary cancer arising from inherited mutations of the VHL tumor suppressor gene. (9239471)
1996
48
Cytogenetic and fluorescence in situ hybridization studies on sporadic and hereditary tumors associated with von Hippel-Lindau syndrome (VHL). (7923076)
1994
49
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
50
Clustering of features of von Hippel-Lindau syndrome: evidence for a complex genetic locus. (1673491)
1991

Variations for Von Hippel-Lindau Syndrome

About this section

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

68 (show all 104)
id Symbol AA change Variation ID SNP ID
1VHLp.Ser38ProVAR_005670
2VHLp.Glu52LysVAR_005671rs373068386
3VHLp.Ser65LeuVAR_005672rs5030826
4VHLp.Ser65TrpVAR_005673rs5030826
5VHLp.Ser68TrpVAR_005675
6VHLp.Glu70LysVAR_005676rs5030802
7VHLp.Val74GlyVAR_005677rs5030803
8VHLp.Phe76IleVAR_005679
9VHLp.Phe76LeuVAR_005680
10VHLp.Phe76SerVAR_005681rs730882033
11VHLp.Asn78HisVAR_005682
12VHLp.Asn78SerVAR_005683rs5030804
13VHLp.Asn78ThrVAR_005684
14VHLp.Arg79ProVAR_005685
15VHLp.Ser80IleVAR_005686rs5030805
16VHLp.Ser80ArgVAR_005687
17VHLp.Ser80AsnVAR_005688rs5030805
18VHLp.Pro81SerVAR_005689rs5030806
19VHLp.Arg82ProVAR_005690rs794726890
20VHLp.Val84LeuVAR_005692rs5030827
21VHLp.Pro86AlaVAR_005693rs398123481
22VHLp.Pro86LeuVAR_005694rs730882034
23VHLp.Pro86ArgVAR_005695
24VHLp.Pro86SerVAR_005696rs398123481
25VHLp.Trp88ArgVAR_005697
26VHLp.Trp88SerVAR_005698rs119103277
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_005713rs193922609
37VHLp.Ser111CysVAR_005714
38VHLp.Ser111AsnVAR_005715
39VHLp.Ser111ArgVAR_005716rs765978945
40VHLp.Tyr112HisVAR_005717rs104893824
41VHLp.Gly114CysVAR_005718
42VHLp.Gly114ArgVAR_005719
43VHLp.Gly114SerVAR_005720
44VHLp.His115TyrVAR_005722rs5030811
45VHLp.His115GlnVAR_005723
46VHLp.Leu116ValVAR_005724
47VHLp.Trp117CysVAR_005725rs727504215
48VHLp.Leu118ProVAR_005726rs5030830
49VHLp.Leu118ArgVAR_005727
50VHLp.Phe119LeuVAR_005728
51VHLp.Phe119SerVAR_005729
52VHLp.Asp121GlyVAR_005730rs5030832
53VHLp.Leu128PheVAR_005731
54VHLp.Val130LeuVAR_005733rs104893830
55VHLp.Asn131LysVAR_005734
56VHLp.Asn131ThrVAR_005735
57VHLp.Phe136SerVAR_005736rs5030833
58VHLp.Phe136CysVAR_005737rs5030833
59VHLp.Asp143GluVAR_005738
60VHLp.Ala149ThrVAR_005740
61VHLp.Pro154LeuVAR_005741
62VHLp.Val155GlyVAR_005742
63VHLp.Tyr156CysVAR_005743rs397516441
64VHLp.Tyr156AspVAR_005744
65VHLp.Thr157IleVAR_005746
66VHLp.Leu158ProVAR_005748rs121913346
67VHLp.Leu158ValVAR_005749
68VHLp.Lys159GluVAR_005750
69VHLp.Arg161GlnVAR_005751rs730882035
70VHLp.Arg161ProVAR_005752
71VHLp.Arg161GlyVAR_005753rs5030818
72VHLp.Cys162PheVAR_005754rs397516444
73VHLp.Cys162ArgVAR_005755
74VHLp.Cys162TrpVAR_005756rs5030622
75VHLp.Cys162TyrVAR_005757
76VHLp.Gln164ArgVAR_005758rs267607170
77VHLp.Val166PheVAR_005759rs104893825
78VHLp.Arg167GlyVAR_005760rs5030820
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_005770rs377715747
88VHLp.Leu184ArgVAR_005771
89VHLp.Leu184ProVAR_005772
90VHLp.Glu186LysVAR_005773rs367545984
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_034992rs104893824

Clinvar genetic disease variations for Von Hippel-Lindau Syndrome:

5 (show all 124)
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 pathogenicrs727503744GRCh38Chr 3, 10141773: 10141793
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)deletionPathogenicrs730882020GRCh38Chr 3, 10149800: 10149800
7VHLNM_000551.3(VHL): c.194C> T (p.Ser65Leu)single nucleotide variantPathogenicrs5030826GRCh38Chr 3, 10142041: 10142041
8VHLNM_000551.3(VHL): c.257C> T (p.Pro86Leu)single nucleotide variantPathogenicrs730882034GRCh38Chr 3, 10142104: 10142104
9VHLNM_000551.3(VHL): c.263G> A (p.Trp88Ter)single nucleotide variantPathogenicrs119103277GRCh38Chr 3, 10142110: 10142110
10VHLNM_000551.3(VHL): c.266T> C (p.Leu89Pro)single nucleotide variantLikely pathogenic, Pathogenicrs5030807GRCh38Chr 3, 10142113: 10142113
11VHLNM_000551.3(VHL): c.473T> C (p.Leu158Pro)single nucleotide variantPathogenicrs121913346GRCh38Chr 3, 10149796: 10149796
12VHLNM_000551.3(VHL): c.482G> A (p.Arg161Gln)single nucleotide variantPathogenicrs730882035GRCh38Chr 3, 10149805: 10149805
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> C (p.Tyr98Ser)single nucleotide variantLikely pathogenicrs864321643GRCh37Chr 3, 10183824: 10183824
17VHLNM_000551.3(VHL): c.337C> T (p.Arg113Ter)single nucleotide variantPathogenicrs5030810GRCh38Chr 3, 10142184: 10142184
18VHLNM_000551.3(VHL): c.258delC (p.Val87Tyrfs)deletionPathogenicrs864622545GRCh37Chr 3, 10183789: 10183789
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 pathogenicrs869025618GRCh38Chr 3, 10142061: 10142061
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 pathogenicrs869025621GRCh38Chr 3, 10142079: 10142079
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)deletionPathogenicrs869025647GRCh37Chr 3, 10183720: 10183723
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 variantPathogenicrs869025655GRCh37Chr 3, 10188309: 10188309
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.464-?_*3705+?deldeletionPathogenic
106VHLNM_000551.3(VHL): c.242C> T (p.Pro81Leu)single nucleotide variantLikely pathogenicrs193922608GRCh37Chr 3, 10183773: 10183773
107VHLNM_000551.3(VHL): c.320G> C (p.Arg107Pro)single nucleotide variantLikely pathogenic, Pathogenicrs193922609GRCh37Chr 3, 10183851: 10183851
108VHLNM_000551.3(VHL): c.371C> T (p.Thr124Ile)single nucleotide variantLikely pathogenicrs193922610GRCh37Chr 3, 10188228: 10188228
109VHLNM_000551.3(VHL): c.458T> A (p.Leu153Gln)single nucleotide variantLikely pathogenicrs193922611GRCh37Chr 3, 10188315: 10188315
110VHLNM_000551.3(VHL): c.524A> G (p.Tyr175Cys)single nucleotide variantLikely pathogenicrs193922613GRCh37Chr 3, 10191531: 10191531
111VHLp.X214Trpsingle nucleotide variantLikely pathogenic
112VHLNM_000551.3(VHL): c.194C> G (p.Ser65Trp)single nucleotide variantPathogenicrs5030826GRCh37Chr 3, 10183725: 10183725
113VHLNM_000551.3(VHL): c.208G> A (p.Glu70Lys)single nucleotide variantPathogenicrs5030802GRCh37Chr 3, 10183739: 10183739
114VHLNM_000551.3(VHL): c.319C> G (p.Arg107Gly)single nucleotide variantPathogenicrs397516440GRCh37Chr 3, 10183850: 10183850
115VHLNM_000551.3(VHL): c.467A> G (p.Tyr156Cys)single nucleotide variantPathogenicrs397516441GRCh37Chr 3, 10191474: 10191474
116VHLNM_000551.3(VHL): c.408delT (p.Phe136Leufs)deletionPathogenicrs397516442GRCh37Chr 3, 10188265: 10188265
117VHLNM_000551.3(VHL): c.463+2T> Gsingle nucleotide variantLikely pathogenicrs397516443GRCh37Chr 3, 10188322: 10188322
118VHLNM_000551.3(VHL): c.464-1G> Asingle nucleotide variantPathogenicrs5030817GRCh37Chr 3, 10191470: 10191470
119VHLNM_000551.3(VHL): c.485G> T (p.Cys162Phe)single nucleotide variantPathogenicrs397516444GRCh37Chr 3, 10191492: 10191492
120VHLNM_000551.3(VHL): c.497T> C (p.Val166Ala)single nucleotide variantPathogenicrs397516445GRCh37Chr 3, 10191504: 10191504
121VHLNM_000551.3(VHL): c.233A> G (p.Asn78Ser)single nucleotide variantPathogenicrs5030804GRCh37Chr 3, 10183764: 10183764
122VHLNM_000551.3(VHL): c.256C> G (p.Pro86Ala)single nucleotide variantLikely pathogenic, Pathogenicrs398123481GRCh37Chr 3, 10183787: 10183787
123VHLNM_000551.3(VHL): c.326T> A (p.Ile109Asn)single nucleotide variantLikely pathogenicrs398123482GRCh37Chr 3, 10183857: 10183857
124VHLNM_000551.3(VHL): c.501_502insTTGTCCGT (p.Ser168Leufs)insertionPathogenicrs398123483GRCh37Chr 3, 10191508: 10191509

Cosmic variations for Von Hippel-Lindau Syndrome:

8 (show top 50)    (show all 815)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1COSM18065VHLkidney,NS,carcinoma,clear cell renal cell carcinomac.340G>Cp.G114R0
2COSM249493AHNAKkidney,NS,carcinoma,clear cell renal cell carcinomac.10272G>Cp.L3424F0
3COSM422826PBRM1kidney,NS,carcinoma,clear cell renal cell carcinomac.3848T>Ap.V1283E0
4COSM307624POU4F2kidney,NS,carcinoma,clear cell renal cell carcinomac.886C>Tp.Q296*0
5COSM5297PTENkidney,NS,carcinoma,clear cell renal cell carcinomac.1054G>Tp.E352*0
6COSM52842PBRM1kidney,NS,carcinoma,clear cell renal cell carcinomac.1318C>Tp.Q440*0
7COSM27590DKK1kidney,NS,carcinoma,clear cell renal cell carcinomac.620C>Ap.S207Y0
8COSM3724575METkidney,NS,carcinoma,Type 1c.3538C>Tp.H1180Y0
9COSM14400VHLkidney,NS,carcinoma,clear cell renal cell carcinomac.194C>Tp.S65L0
10COSM30228VHLkidney,NS,carcinoma,clear cell renal cell carcinomac.337C>Tp.R113*0
11COSM249512DOCK5kidney,NS,carcinoma,clear cell renal cell carcinomac.2959A>Tp.M987L0
12COSM28746IDH1central nervous system,brain,other,neoplasmc.395G>Ap.R132H0
13COSM10863TP53kidney,NS,carcinoma,clear cell renal cell carcinomac.833C>Tp.P278L0
14COSM20757IGF1Rkidney,NS,carcinoma,clear cell renal cell carcinomac.3640C>Tp.Q1214*0
15COSM17612VHLkidney,NS,carcinoma,clear cell renal cell carcinomac.481C>Tp.R161*0
16COSM14407VHLkidney,NS,carcinoma,clear cell renal cell carcinomac.388G>Cp.V130L0
17COSM14368VHLkidney,NS,carcinoma,clear cell renal cell carcinomac.473T>Ap.L158Q0
18COSM14305VHLkidney,NS,carcinoma,clear cell renal cell carcinomac.266T>Ap.L89H0
19COSM17885VHLkidney,NS,carcinoma,clear cell renal cell carcinomac.293A>Tp.Y98F0
20COSM25678VHLkidney,NS,carcinoma,clear cell renal cell carcinomac.563T>Cp.L188P0
21COSM14437VHLkidney,NS,carcinoma,clear cell renal cell carcinomac.464-1G>Cp.?0
22COSM17642VHLkidney,NS,carcinoma,clear cell renal cell carcinomac.340G>Tp.G114C0
23COSM249605TRPC6kidney,NS,carcinoma,clear cell renal cell carcinomac.1124A>Gp.K375R0
24COSM29150KDM6Akidney,NS,carcinoma,clear cell renal cell carcinomac.3220A>Gp.R1074G0
25COSM29149KDM6Akidney,NS,carcinoma,clear cell renal cell carcinomac.2929C>Ap.L977I0
26COSM249288KMT2Dkidney,NS,carcinoma,clear cell renal cell carcinomac.15082G>Tp.V5028L0
27COSM25673VHLkidney,NS,carcinoma,clear cell renal cell carcinomac.499C>Gp.R167G0
28COSM28747IDH1central nervous system,brain,other,neoplasmc.394C>Tp.R132C0
29COSM43394SETD2kidney,NS,carcinoma,clear cell renal cell carcinomac.455T>Ap.L152*0
30COSM14399VHLkidney,NS,carcinoma,clear cell renal cell carcinomac.351G>Ap.W117*0
31COSM17758VHLkidney,NS,carcinoma,clear cell renal cell carcinomac.391A>Tp.N131Y0
32COSM30369SETD2kidney,NS,carcinoma,clear cell renal cell carcinomac.2965C>Tp.R989*0
33COSM17928VHLkidney,NS,carcinoma,clear cell renal cell carcinomac.463G>Cp.V155L0
34COSM30216VHLkidney,NS,carcinoma,clear cell renal cell carcinomac.239G>Ap.S80N0
35COSM30229VHLkidney,NS,carcinoma,clear cell renal cell carcinomac.340+1G>Ap.?0
36COSM17711VHLkidney,NS,carcinoma,clear cell renal cell carcinomac.208G>Tp.E70*0
37COSM17669VHLkidney,NS,carcinoma,clear cell renal cell carcinomac.406T>Ap.F136I0
38COSM17756VHLkidney,NS,carcinoma,clear cell renal cell carcinomac.383T>Ap.L128H0
39COSM17715VHLkidney,NS,carcinoma,clear cell renal cell carcinomac.221T>Ap.V74D0
40COSM10891TP53kidney,NS,carcinoma,clear cell renal cell carcinomac.814G>Ap.V272M0
41COSM17859VHLkidney,NS,carcinoma,clear cell renal cell carcinomac.254T>Cp.L85P0
42COSM18086VHLkidney,NS,carcinoma,clear cell renal cell carcinomac.232A>Cp.N78H0
43COSM17651VHLkidney,NS,carcinoma,clear cell renal cell carcinomac.445G>Cp.A149P0
44COSM26975MTORkidney,NS,carcinoma,clear cell renal cell carcinomac.7514G>Cp.R2505P0
45COSM30226VHLkidney,NS,carcinoma,clear cell renal cell carcinomac.333C>Ap.S111R0
46COSM1047085PBRM1kidney,NS,carcinoma,clear cell renal cell carcinomac.3100A>Tp.K1034*0
47COSM18132VHLkidney,NS,carcinoma,clear cell renal cell carcinomac.463+2T>Cp.?0
48COSM30404RNF123kidney,NS,carcinoma,clear cell renal cell carcinomac.3371C>Tp.A1124V0
49COSM27608MED14kidney,NS,carcinoma,clear cell renal cell carcinomac.478G>Ap.V160I0
50COSM17913VHLkidney,NS,carcinoma,clear cell renal cell carcinomac.497T>Ap.V166D0

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

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
11791853870000011800000Copy numberVHLVon hippel-lindau syndrome

Expression for genes affiliated with Von Hippel-Lindau Syndrome

About this section
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 17)
idSuper pathwaysScoreTop Affiliating Genes
110.0CCND1, VEGFA
29.9HIF1A, VHL
3
Show member pathways
9.8SDHB, SDHC, SDHD
4
Show member pathways
9.6HIF1A, VEGFA, VHL
59.6HIF1A, VEGFA, VHL
6
Show member pathways
9.6HIF1A, VEGFA, VHL
79.6HIF1A, VEGFA, VHL
8
Show member pathways
9.6CCND1, HIF1A, VEGFA
99.5CCND1, RASSF1, VEGFA
109.4CCND1, NF1, TSC2
119.4CCND1, HIF1A, TSC2
129.2CCND1, NF1, TSC2, VEGFA
139.0HIF1A, MET, RET
148.8CCND1, HIF1A, MET, VEGFA
158.7CCND1, MET, RASSF1, VEGFA
16
Show member pathways
8.1CCND1, MET, NF1, RASSF1, TSC2
177.8CCND1, HIF1A, MET, RASSF1, RET, VEGFA

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:004527310.4SDHB, SDHC
2mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone)GO:000574910.2SDHB, SDHC, SDHD
3secretory granuleGO:00301419.5CHGA, CHGB, VEGFA

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:006141910.3HIF1A, VEGFA
2positive regulation of vascular endothelial growth factor receptor signaling pathwayGO:003094910.3HIF1A, VEGFA
3hemoglobin biosynthetic processGO:004254110.2HIF1A, INHA
4positive regulation of cell sizeGO:004579310.2HIF1A, RET
5positive regulation of extrinsic apoptotic signaling pathway in absence of ligandGO:200124110.1NF1, RET
6mammary gland alveolus developmentGO:006074910.1CCND1, VEGFA
7regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:00614189.9HIF1A, VEGFA, VHL
8camera-type eye morphogenesisGO:00485939.9HIF1A, NF1, VEGFA
9positive regulation of endothelial cell proliferationGO:00019389.8HIF1A, NF1, VEGFA
10lactationGO:00075959.6CCND1, HIF1A, VEGFA
11tricarboxylic acid cycleGO:00060999.5SDHB, SDHC, SDHD
12cerebral cortex developmentGO:00219879.4HIF1A, NF1, NPY
13positive chemotaxisGO:00509189.1MET, 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
2electron carrier activityGO:00090559.8SDHB, SDHC, SDHD
3ubiquinone bindingGO:00480399.7SDHB, SDHD

Sources for Von Hippel-Lindau Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
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38MESH via Orphanet
39MGI
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44NDF-RT
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48Novoseek
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65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet