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:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 38MedlinePlus, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 49NINDS, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot, 71Wikipedia
See all MalaCards sources

Aliases & Descriptions for Von Hippel-Lindau Syndrome:

Name: Von Hippel-Lindau Syndrome 52 11 23 48 24 25 54 70 12 68
Von Hippel-Lindau Disease 11 71 23 48 24 25 49 54 70 27 50 38 39 13
Vhl Syndrome 23 48 24 25
Angiomatosis Retinae 24 25
Lindau Disease 24 54
Vhl 48 54
 
Von Hippel-Lindau Syndrome, Modifier of 52
Cerebelloretinal Angiomatosis, Familial 25
Familial Cerebelloretinal Angiomatosis 54
Hippel Lindau Syndrome 11
Hippel-Lindau Disease 25
Vhld 70

Characteristics:

Orphanet epidemiological data:

54
von hippel-lindau disease:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (United Kingdom); Age of onset: Adult; Age of death: elderly

HPO:

64
von hippel-lindau syndrome:
Inheritance: autosomal dominant inheritance
Onset and clinical course: phenotypic variability

GeneReviews:

23
Penetrance: vhl pathogenic variants are highly penetrant. almost all individuals who have a pathogenic variant in vhl are symptomatic by age 65 years [maher et al 1991]...


Classifications:



External Ids:

OMIM52 193300
Disease Ontology11 DOID:14175
ICD1030 Q85.8
MeSH39 D006623
NCIt45 C3105
SNOMED-CT62 46659004
Orphanet54 ORPHA892
MESH via Orphanet40 D006623
UMLS via Orphanet69 C0019562
ICD10 via Orphanet31 Q85.8

Summaries for Von Hippel-Lindau Syndrome

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OMIM:52 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 renal cell carcinoma 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, pancreas and brain, and related mouse phenotypes are Decreased sensitivity to paclitaxel and Increased mitotic index.

UniProtKB/Swiss-Prot:70 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).

MedlinePlus:38 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:49 Von Hippel-Lindau disease (VHL) is a rare, genetic multi-system disorder in which non-cancerous tumors grow in certain parts of the body. Slow-growing hemgioblastomas -- benign tumors with many blood vessels -- may develop in the brain, spinal cord, the retinas of the eyes, and near the inner ear. Cysts (fluid-filled sacs) may develop around the hemangioblastomas. Other types of tumors develop in the adrenal glands, the kidneys, or the pancreas. Symptoms of VHL vary among individuals and depend on the size and location of the tumors. Symptoms may include headaches, problems with balance and walking, dizziness, weakness of the limbs, vision problems, deafness in one ear, and high blood pressure. Individuals with VHL are also at a higher risk than normal for certain types of cancer, especially kidney cancer.

Genetics Home Reference:25 Von Hippel-Lindau syndrome is an inherited disorder characterized by the formation of tumors and fluid-filled sacs (cysts) in many different parts of the body. Tumors may be either noncancerous or cancerous and most frequently appear during young adulthood; however, the signs and symptoms of von Hippel-Lindau syndrome can occur throughout life.

NIH Rare Diseases:48 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

GeneReviews for NBK1463

Related Diseases for Von Hippel-Lindau Syndrome

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

(show top 50)    (show all 103)
idRelated DiseaseScoreTop Affiliating Genes
1renal cell carcinoma29.6HIF1A, MET, RASSF1, SDHB, SDHD, TSC2
2pheochromocytoma28.4CHGA, CHGB, MEN1, NF1, NPY, PNMT
3cystadenoma27.7HIF1A, MET, RASSF1, SDHB, TSC2, VEGFA
4vhl-related pheochromocytoma12.1
5angiomatosis11.8
6hemangioblastoma11.7
7pancreatic serous cystadenoma11.6
8endolymphatic sac tumor11.6
9pancreatic cancer11.3
10pancreatitis, pediatric10.6SDHC, SDHD
11morbid obesity10.5INHA, VHL
12torticollis, familial10.5SDHB, SDHC, SDHD
13neuroendocrine carcinoma of the cervix10.5SDHB, SDHC, SDHD
14carcinoid tumors, intestinal10.5SDHB, SDHC, SDHD
15paraganglioma and gastric stromal sarcoma10.5SDHB, SDHC, SDHD
16mercaptolactate-cysteine disulfiduria10.5SDHB, SDHC, SDHD
17steroid-induced glaucoma10.5SDHB, SDHC, SDHD
18glycogen storage disease ib10.5SDHB, SDHC, SDHD
19pancreatic serous cystic neoplasm10.4CHGA, VEGFA, VHL
20gars-associated axonal neuropathy10.4HIF1A, VHL
21phaeochromocytoma10.3
22multiple endocrine neoplasia10.3
23iridogoniodysgenesis and skeletal anomalies10.3HIF1A, VEGFA
24retinoschisis autosomal dominant10.3RET, SDHB, SDHD, VHL
25pseudoglandular variant testicular seminoma10.3CHGA, NF1
26ameloblastoma10.3RET, SDHB, SDHD, VHL
27ataxia10.3TSC2, VHL
28lung abscess10.3RET, SDHB, SDHC, SDHD
29parathyroid transitional clear cell adenoma10.3CHGA, MEN1
30pancreatitis10.3
31mucinous cystadenocarcinoma10.2INHA, VEGFA
32in situ carcinoma10.2NF1, SDHB, SDHD
33lipoma of the rectum10.2CHGA, SDHB, SDHC, SDHD
34cerebellar vermis medulloblastoma10.2CCND1, CHGA, VEGFA
35plasmacytoma10.2CCND1, CHGA, VEGFA
36hilar cholangiocellular carcinoma10.2HIF1A, VEGFA, VHL
37brown-vialetto-van laere syndrome10.2CCND1, CHGA, VEGFA
38acute myeloblastic leukemia without maturation10.2HIF1A, VEGFA, VHL
39neuroendocrine tumor10.2
40pancreatic neuroendocrine tumor10.2
41renal tubular transport disease10.2HIF1A, VEGFA, VHL
42neurofibromatosis-noonan syndrome10.1NF1, SDHB, SDHC, SDHD
43ocular melanoma10.1TSC2, VEGFA, VHL
44medullary thyroid carcinoma, familial10.1CHGA, MEN1, RET
45hidrotic ectodermal dysplasia 210.1RET, SDHB, SDHC, SDHD, VHL
46hemangioma10.1
47retinitis10.1
48endotheliitis10.1
49sporadic pheochromocytoma10.1
50seminal vesicle cystadenoma10.1PNMT, RET, SDHB, SDHC, SDHD

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



Diseases related to von hippel-lindau syndrome

Symptoms & Phenotypes for Von Hippel-Lindau Syndrome

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Symptoms by clinical synopsis from OMIM:

193300

Clinical features from OMIM:

193300

Human phenotypes related to Von Hippel-Lindau Syndrome:

 64 54 (show all 58)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment64 54 hallmark (90%) Very frequent (99-80%) HP:0000407
2 nystagmus64 54 hallmark (90%) Very frequent (99-80%) HP:0000639
3 pancreatic cysts64 54 hallmark (90%) Very frequent (99-80%) HP:0001737
4 neurological speech impairment64 54 hallmark (90%) Very frequent (99-80%) HP:0002167
5 aplasia/hypoplasia of the cerebellum64 54 hallmark (90%) Very frequent (99-80%) HP:0007360
6 abnormality of the retinal vasculature64 54 hallmark (90%) Very frequent (99-80%) HP:0008046
7 renal neoplasm64 hallmark (90%) HP:0009726
8 arteriovenous malformation64 54 hallmark (90%) Very frequent (99-80%) HP:0100026
9 abnormality of the cerebral vasculature64 54 hallmark (90%) Very frequent (99-80%) HP:0100659
10 visceral angiomatosis64 54 hallmark (90%) Very frequent (99-80%) HP:0100761
11 multicystic kidney dysplasia64 54 typical (50%) Frequent (79-30%) HP:0000003
12 hydrocephalus64 54 typical (50%) Frequent (79-30%) HP:0000238
13 visual impairment64 54 typical (50%) Very frequent (99-80%) HP:0000505
14 gait disturbance64 54 typical (50%) Frequent (79-30%) HP:0001288
15 nausea and vomiting64 54 typical (50%) Frequent (79-30%) HP:0002017
16 migraine64 54 typical (50%) Frequent (79-30%) HP:0002076
17 incoordination64 typical (50%) HP:0002311
18 hemiplegia/hemiparesis64 54 typical (50%) Frequent (79-30%) HP:0004374
19 telangiectasia of the skin64 typical (50%) HP:0100585
20 polycystic kidney dysplasia64 54 occasional (7.5%) Frequent (79-30%) HP:0000113
21 glaucoma64 54 occasional (7.5%) Occasional (29-5%) HP:0000501
22 cataract64 54 occasional (7.5%) Occasional (29-5%) HP:0000518
23 retinal detachment64 54 occasional (7.5%) Occasional (29-5%) HP:0000541
24 hyperhidrosis64 54 occasional (7.5%) Occasional (29-5%) HP:0000975
25 abnormality of the macula64 occasional (7.5%) HP:0001103
26 increased intracranial pressure64 54 occasional (7.5%) Occasional (29-5%) HP:0002516
27 arrhythmia64 54 occasional (7.5%) Occasional (29-5%) HP:0011675
28 neuroendocrine neoplasm64 54 occasional (7.5%) Occasional (29-5%) HP:0100634
29 hypertensive crisis64 occasional (7.5%) HP:0100735
30 abnormality of the lymphatic system64 54 occasional (7.5%) Occasional (29-5%) HP:0100763
31 neoplasm of the middle ear64 54 occasional (7.5%) Occasional (29-5%) HP:0100799
32 tinnitus64 HP:0000360
33 hypertension64 54 Occasional (29-5%) HP:0000822
34 abnormality of the liver64 HP:0001392
35 polycythemia64 HP:0001901
36 vertigo64 HP:0002321
37 pheochromocytoma64 54 Occasional (29-5%) HP:0002666
38 paraganglioma64 HP:0002668
39 neoplasm of the pancreas64 HP:0002894
40 multiple renal cysts64 54 Occasional (29-5%) HP:0005562
41 renal cell carcinoma64 54 Very frequent (99-80%) HP:0005584
42 pulmonary capillary hemangiomatosis64 HP:0005954
43 cerebellar hemangioblastoma64 HP:0006880
44 retinal capillary hemangioma64 HP:0009711
45 spinal hemangioblastoma64 HP:0009713
46 papillary cystadenoma of the epididymis64 54 Frequent (79-30%) HP:0009715
47 epididymal cyst64 HP:0030424
48 abnormality of the kidney54 Frequent (79-30%)
49 hearing impairment54 Occasional (29-5%)
50 visual loss54 Occasional (29-5%)
51 sensory neuropathy54 Frequent (79-30%)
52 ataxia54 Frequent (79-30%)
53 abnormality of the pancreas54 Occasional (29-5%)
54 neoplasm54 Occasional (29-5%)
55 capillary hemangiomas54 Frequent (79-30%)
56 retinal hemangioblastoma54 Very frequent (99-80%)
57 teleangiectasia of the skin54 Frequent (79-30%)
58 vascular neoplasm54 Very frequent (99-80%)

UMLS symptoms related to Von Hippel-Lindau Syndrome:


vertigo

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00112-A-010.8NF1, VHL
2GR00110-A-09.8MET, RET, SDHD

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

41 (show all 19)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.6HIF1A, MET, NF1, RET, VEGFA, VHL
2MP:00053908.3CCND1, HIF1A, INHA, NF1, NPY, SDHC
3MP:00053898.2CCND1, CHGA, INHA, MEN1, RET, TSC2
4MP:00053698.2HIF1A, MEN1, MET, NF1, RET, VEGFA
5MP:00053828.1CCND1, HIF1A, MEN1, MET, NF1, VEGFA
6MP:00053807.4HIF1A, MEN1, MET, NF1, RET, SDHD
7MP:00053877.0CCND1, HIF1A, INHA, MEN1, MET, NF1
8MP:00053676.8CHGA, HIF1A, MET, NF1, NPY, RET
9MP:00053846.6CCND1, HIF1A, MEN1, MET, NF1, RASSF1
10MP:00053816.5CCND1, HIF1A, INHA, MEN1, MET, NF1
11MP:00053706.4HIF1A, INHA, MEN1, MET, NF1, NPY
12MP:00020066.3CCND1, HIF1A, INHA, MEN1, MET, NF1
13MP:00036316.1CCND1, CHGB, HIF1A, MEN1, MET, NF1
14MP:00053785.7CCND1, CHGA, HIF1A, INHA, MEN1, MET
15MP:00028735.7CCND1, HIF1A, INHA, MET, NF1, NPY
16MP:00053795.5CCND1, CHGA, CHGB, HIF1A, INHA, MEN1
17MP:00107685.3CCND1, CHGA, HIF1A, INHA, MEN1, MET
18MP:00053855.0CCND1, CHGA, HIF1A, INHA, MEN1, MET
19MP:00053764.3CCND1, CHGA, CHGB, HIF1A, INHA, MEN1

Drugs & Therapeutics for Von Hippel-Lindau Syndrome

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

(show all 49)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Sirolimusapproved, investigationalPhase 3189653123-88-95284616, 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
EverolimusapprovedPhase 31896159351-69-66442177
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
3
Miconazoleapproved, investigational, vet_approvedPhase 3362422916-47-84189
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
4MitogensPhase 3, Phase 21526
5Endothelial Growth FactorsPhase 3, Phase 2362
6Anti-Infective AgentsPhase 321402
7Anti-Bacterial AgentsPhase 310884
8Antibiotics, AntitubercularPhase 36972
9Immunosuppressive AgentsPhase 312770
10Antifungal AgentsPhase 33615
11tyrosineNutraceuticalPhase 3659
12
Sunitinibapproved, investigationalPhase 2, Phase 1500341031-54-7, 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
13
RanibizumabapprovedPhase 1, Phase 2474347396-82-1459903
Synonyms:
347396-82-1
D05697
Lucentis
Lucentis (TN)
 
Ranibizumab
Ranibizumab (USAN/INN)
Ranibizumab (genetical recombination)
Ranibizumab (genetical recombination) (JAN)
ranibizumab
rhuFab V2
14
SomatostatinapprovedPhase 222938916-34-6, 51110-01-153481605
Synonyms:
growth hormone-inhibiting hormone (GHIH)
 
somatotropin release-inhibiting factor (SRIF)
somatotropin release-inhibiting hormone
15
PancrelipaseapprovedPhase 293553608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
PA
 
Pancreatic alpha-amylase precursor
Pancrelipase (amylase
lipase
protease)
16
VatalanibinvestigationalPhase 240212141-54-3151194
Synonyms:
1-(4-chloroanilino)-4-(4-pyridylmethyl)phthalazine succinate
CGP79787
PTK 787
 
PTK/ZK
PTK787
PTK787/ZK 222584
ZK222584
vatalanib
17Fluorodeoxyglucose F18Phase 2392
18Angiogenesis Modulating AgentsPhase 2, Phase 1, Early Phase 14072
19RadiopharmaceuticalsPhase 2485
20Angiogenesis InhibitorsPhase 2, Phase 1, Early Phase 14143
21Protein Kinase InhibitorsPhase 23612
22Pharmaceutical SolutionsPhase 1, Phase 27793
23VaccinesPhase 26428
24Freund's AdjuvantPhase 2104
25Adjuvants, ImmunologicPhase 22484
26pancreatinPhase 2935
27histidineNutraceuticalPhase 1, Phase 242
28
Bevacizumabapproved, investigationalPhase 1, Early Phase 11968216974-75-3
Synonyms:
216974-75-3
Avastin
Avastin (TN)
Bevacizumab
Bevacizumab (genetical recombination)
 
Bevacizumab (genetical recombination) (JAN)
D06409
R-435
anti-VEGF monoclonal antibody
antiVEGF
bevacizumab
29
Vorinostatapproved, investigationalPhase 1242149647-78-95311
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
30ImmunoglobulinsPhase 16045
31AntibodiesPhase 16045
32Antibodies, MonoclonalPhase 13795
33Histone Deacetylase InhibitorsPhase 1566
34
Sorafenibapproved, investigational692284461-73-0216239, 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
35
Norepinephrineapproved68351-41-2439260
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
36
Epinephrineapproved, vet_approved93351-43-45816
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
37
Nicotinamideapproved, Nutraceutical90298-92-0936
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 amide
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
38
Niacinapproved, investigational, nutraceutical90659-67-6938
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
39
Folic Acidapproved, nutraceutical, vet_approved427959-30-36037
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
40Nicotinic Acids906
41Vitamins5095
42Vitamin B Complex4229
43Micronutrients5802
44Trace Elements5802
45Epinephryl borate933
46Racepinephrine933
47FolateNutraceutical4279
48Vitamin B9Nutraceutical4279
49Vitamin B3Nutraceutical906

Interventional clinical trials:

(show all 35)
idNameStatusNCT IDPhase
1A Study of Cabozantinib (XL184) vs Everolimus in Subjects With Metastatic Renal Cell CarcinomaActive, not recruitingNCT01865747Phase 3
2pazopanib_NCRCC,Ph2 STUDYUnknown statusNCT01538238Phase 2
317AAG to Treat Kidney Tumors in Von Hippel-Lindau DiseaseCompletedNCT00088374Phase 2
4Treatment of Von Hippel-Lindau (VHL)-Related Hemangioblastoma With PTK787/ZK 222584CompletedNCT00052013Phase 2
5Study of Sunitinib in Patients With Von Hippel-Lindau (VHL) DiseaseCompletedNCT01168440Phase 2
6Phase II Study of Vandetanib in Individuals With Kidney CancerCompletedNCT00566995Phase 2
7Metabolic Mapping to Measure Retinal MetabolismCompletedNCT00385333Phase 2
8Treatment of Exudative and Vasogenic Chorioretinal Diseases Including Variants of AMD and Other CNV Related MaculopathyCompletedNCT00470977Phase 1, Phase 2
9A 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 RanibizumabRecruitingNCT02859441Phase 1, Phase 2
10Evaluation of 68Gallium-DOTATATE PET/CT for Detecting Neuroendocrine TumorsRecruitingNCT01967537Phase 2
11Pazopanib in Von Hippel-Lindau (VHL) SyndromeActive, not recruitingNCT01436227Phase 2
12Sunitinib Malate to Treat Advanced Eye Disease in Patients With Von Hippel-Lindau SyndromeTerminatedNCT00673816Phase 1, Phase 2
13Evaluation of Sunitinib Malate in Patients With Von Hippel-Lindau Syndrome (VHL) Who Have VHL Lesions to FollowTerminatedNCT00330564Phase 2
14TKI 258 in Von Hippel-Lindau Syndrome (VHL)TerminatedNCT01266070Phase 2
15Vaccine Therapy With Tumor Specific Mutated VHL Peptides in Adult Cancer Patients With Renal Cell CarcinomaTerminatedNCT00001703Phase 2
16Vandetanib to Treat Advanced Kidney CancerTerminatedNCT01372813Phase 2
17Imaging Studies of Kidney Cancer Using 18F-VM4-037TerminatedNCT01712685Phase 2
18EYE001 to Treat Retinal Tumors in Patients With Von Hippel-Lindau SyndromeCompletedNCT00056199Phase 1
19Ranibizumab Injections to Treat Retinal Tumors in Patients With Von Hippel-Lindau SyndromeCompletedNCT00089765Phase 1
20Effect of Vorinostat on Nervous System Hemangioblastomas in Von Hippel-Lindau Disease (Missense Mutation Only)Enrolling by invitationNCT02108002Phase 1
21Visualizing Vascular Endothelial Growth Factor (VEGF) Producing Lesions in Von Hippel-Lindau DiseaseCompletedNCT00970970
22Endolymphatic 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
23Genetic 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
24Effect of Sorafenib on ccRCC Uptake of Radiolabeled Bevacizumab or cG250CompletedNCT00602862
25Natural History and Management of Pancreatic Lesions in Von Hippel-Lindau DiseaseRecruitingNCT00062166
26Screening for Endolymphatic Sac Tumours (ELSTs) in Von Hippel-Lindau (vHL) PatientsRecruitingNCT02420067
27National Eye Institute Biorepository for Retinal DiseasesRecruitingNCT01496625
28Clinical Manifestations and Molecular Bases of Heritable Urologic Malignant DisordersRecruitingNCT00001238
29Diagnosis of PheochromocytomaRecruitingNCT00004847
30Von Hippel-Lindau Disease Genetic Epidemiology StudyActive, not recruitingNCT00001803
31Study of Brain and Spinal Cord Tumor Growth and Cyst Development in Patients With Von Hippel Lindau DiseaseActive, not recruitingNCT00005902
32Psychosocial Consequences of the Screening of Von Hippel Lindau Diseases for Patients Operated for a hémangioblastoma of Nervous Centrasl SystemActive, not recruitingNCT02120040
33Ruxolitinib for Chuvash PolycythemiaAvailableNCT01730755
34Assessment of Residual VHL Function in Tumors - Can it Predict the Patients' Individual Course of Disease?Enrolling by invitationNCT02207686
35Bevacizumab (Avastin) in Unresectable/Recurrent Hemangioblastoma From Von-Hippel-Lindau DiseaseTerminatedNCT01015300Early Phase 1

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 Syndrome27
2 Von Hippel-Lindau27
3 Von Hippel-Lindau Disease24 VHL

Anatomical Context for Von Hippel-Lindau Syndrome

About this section

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

36
Kidney, Pancreas, Brain, Spinal cord, Retina, Adrenal gland, Eye

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
Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-I+ binding site missense mutations elevate age-specific risk for CNS hemangioblastoma. (27439424)
2016
6
Recurrent Pheochromocytomas in a Child with Familial von Hippel-Lindau Syndrome. (27130508)
2016
7
Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome. (27527340)
2016
8
Supratentorial haemangioblastoma without von Hippel-Lindau syndrome in an adult: A rare tumor with review of literature. (26889272)
2016
9
Renal cell carcinoma to haemangioblastoma metastasis: a rare manifestation of Von Hippel-Lindau syndrome. (25088480)
2015
10
VON HIPPEL LINDAU SYNDROME AND SURVEILLANCE: A FIVE YEAR FOLLOW UP CASE REPORT. (27004355)
2015
11
Genotype-phenotype analysis of von Hippel-Lindau syndrome in fifteen Indian families. (25952756)
2015
12
From arterial hypertension complications to von Hippel-Lindau syndrome diagnosis. (26268347)
2015
13
Pheochromocytoma screening initiation and frequency in von Hippel-Lindau syndrome. (26451910)
2015
14
A novel mutation links to von Hippel-Lindau syndrome in a Chinese family with hemangioblastoma. (25966224)
2015
15
Von Hippel-Lindau Syndrome. (26279462)
2015
16
Assessment of tumor growth in von Hippel Lindau syndrome. (25700900)
2015
17
Use of sunitinib in a 30-year-old woman with pancreatic neuroendocrine tumors associated with Von Hippel-Lindau syndrome. (24921213)
2015
18
Tumor growth in von Hippel Lindau syndrome: in reply to Qazi and colleagues. (25700902)
2015
19
Recurrent lobular capillary hemangiomas in a patient with neurofibromatosis type 1 (NF1) and von Hippel-Lindau syndrome (VHL). (27051783)
2015
20
Assessment of tumor growth in pancreatic neuroendocrine tumors in von Hippel Lindau syndrome. (24440063)
2014
21
Laparoscopic Adrenalectomy in a Patient of Von Hippel Lindau Syndrome with Ventriculo-Peritoneal Shunt-Anaesthetic management. (25386452)
2014
22
Biliary and gastric drainage in advanced pancreatic serous cystadenoma and portal hypertension in Von Hippel-Lindau syndrome. (24772348)
2014
23
Clear cell papillary renal cell carcinoma in patients with von Hippel-Lindau syndrome--clinicopathological features and comparative genomic analysis of 3 cases. (25081542)
2014
24
Paraplegia in a patient with Von Hippel Lindau syndrome: surgical and reconstructive treatment of Marjolin's ulcer. A case report. (25376307)
2014
25
Massive exudative retinal detachment following photodynamic therapy for retinal hemangioma in von Hippel-Lindau Syndrome. (24632330)
2014
26
Clinical presentation of Von Hippel Lindau syndrome type 2B associated with VHL p.A149S mutation in a large Turkish family. (23673869)
2014
27
Manifestations of Von Hippel Lindau syndrome: a retrospective national review. (24352051)
2014
28
Von Hippel-Lindau syndrome: demonstration of entire disease spectrum with (68)Ga-DOTANOC PET-CT. (24497809)
2014
29
68Ga DOTANOC PET/CT aiding in the diagnosis of von Hippel-Lindau syndrome by detecting cerebellar hemangioblastoma and adrenal pheochromocytoma. (24999687)
2014
30
Superior mediastinal paraganglioma associated with von Hippel-Lindau syndrome: report of a case. (24678933)
2014
31
Von hippel-lindau syndrome: diagnosis and management of hemangioblastoma and pheochromocytoma. (23781388)
2013
32
p.N78S and p.R161Q germline mutations of the VHL gene are present in von Hippel-Lindau syndrome in two pedigrees. (23842656)
2013
33
Long-term disease control with sunitinib in a patient with metastatic pancreatic neuroendocrine tumor (NET) associated with Von Hippel-Lindau syndrome (VHL). (22415670)
2012
34
Bilateral Laparoscopic adrenalectomy due to a phaeochromocytoma in Von Hippel-Lindau Syndrome: a technique with 4 trocars. (22591617)
2012
35
Midline basifrontal solid hemangioblastoma in non von hippel lindau syndrome patient. (23189014)
2012
36
Partial adrenalectomy minimizes the need for long-term hormone replacement in pediatric patients with pheochromocytoma and von Hippel-Lindau syndrome. (23164001)
2012
37
Molecular basis of von Hippel-Lindau syndrome in Chinese patients. (21362373)
2011
38
Spinal hemangioblastoma of cauda equina origin not associated with von Hippel-Lindau syndrome--case report. (22027253)
2011
39
Re: Functional and oncologic outcomes of partial adrenalectomy for pheochromocytoma in patients with von Hippel-Lindau syndrome after at least 5 years of followup. J. N. Benhammou, R. S. Boris, K. Pacak, P. A. Pinto, W. M. Linehan and G. Bratslavsky. J Urol 2010;184:1855-1859. (21511290)
2011
40
Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndrome. (19906784)
2010
41
Epididymal cyst in von Hippel-Lindau syndrome: clinicopathologic analysis of 3 cases]. (20369698)
2010
42
Clinicopathologic study of von Hippel-Lindau syndrome-related and sporadic hemangioblastomas of central nervous system]. (20450758)
2010
43
Hypogonadotrophic hypogonadism due to intrasellar hemangioblastoma in von Hippel-Lindau syndrome. (19215058)
2009
44
Parasympathetic paragangliomas are part of the Von Hippel-Lindau syndrome. (19808854)
2009
45
Large germline deletion of the VHL gene in Chinese families with von Hippel-Lindau syndrome]. (19806577)
2009
46
Indium-111 pentetreotide uptake within cerebellar hemangioblastoma in von Hippel-lindau syndrome. (18356676)
2008
47
Proteomic profiling of von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2 pheochromocytomas reveals different expression of chromogranin B. (17639059)
2007
48
Renal cell carcinoma in a von Hippel-Lindau syndrome: when should phaeochromocytoma be anticipated? (17657389)
2007
49
Germ line mutations in Chinese kindreds with von Hippel-Lindau syndrome]. (17407064)
2007
50
Neuropeptide Y expression in phaeochromocytomas: relative absence in tumours from patients with von Hippel-Lindau syndrome. (17470513)
2007

Variations for Von Hippel-Lindau Syndrome

About this section

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

70 (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_005715rs869025631
39VHLp.Ser111ArgVAR_005716rs765978945
40VHLp.Tyr112HisVAR_005717rs104893824
41VHLp.Gly114CysVAR_005718
42VHLp.Gly114ArgVAR_005719rs869025636
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_005740rs587780077
61VHLp.Pro154LeuVAR_005741
62VHLp.Val155GlyVAR_005742
63VHLp.Tyr156CysVAR_005743rs397516441
64VHLp.Tyr156AspVAR_005744
65VHLp.Thr157IleVAR_005746rs869025660
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_008100rs771727849
100VHLp.Val155MetVAR_008101rs869025659
101VHLp.Gln164HisVAR_008102
102VHLp.Val166AspVAR_008103
103VHLp.Arg176TrpVAR_008104
104VHLp.Tyr112AsnVAR_034992rs104893824

Clinvar genetic disease variations for Von Hippel-Lindau Syndrome:

5 (show all 125)
id Gene Variation Type Significance SNP ID Assembly Location
1VHLNM_000551.3(VHL): c.445G> T (p.Ala149Ser)SNVPathogenicrs587780077GRCh37Chr 3, 10188302: 10188302
2VHLNM_000551.3(VHL): c.-75_-55del21deletionLikely pathogenicrs727503744GRCh37Chr 3, 10183457: 10183477
3VHLNM_000551.3(VHL): c.351G> T (p.Trp117Cys)SNVPathogenicrs727504215GRCh37Chr 3, 10188208: 10188208
4VHLNC_000003.12: g.(?_10149787)_(10149965_?)deldeletionPathogenicGRCh37Chr 3, 10191471: 10191649
5VHLNM_000551.3(VHL): c.256C> T (p.Pro86Ser)SNVLikely 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)SNVPathogenicrs5030826GRCh38Chr 3, 10142041: 10142041
8VHLNM_000551.3(VHL): c.257C> T (p.Pro86Leu)SNVPathogenicrs730882034GRCh38Chr 3, 10142104: 10142104
9VHLNM_000551.3(VHL): c.263G> A (p.Trp88Ter)SNVPathogenicrs119103277GRCh38Chr 3, 10142110: 10142110
10VHLNM_000551.3(VHL): c.266T> C (p.Leu89Pro)SNVLikely pathogenic, Pathogenicrs5030807GRCh38Chr 3, 10142113: 10142113
11VHLNM_000551.3(VHL): c.473T> C (p.Leu158Pro)SNVPathogenicrs121913346GRCh38Chr 3, 10149796: 10149796
12VHLNM_000551.3(VHL): c.482G> A (p.Arg161Gln)SNVPathogenicrs730882035GRCh38Chr 3, 10149805: 10149805
13VHLNM_000551.3(VHL): c.245G> C (p.Arg82Pro)SNVPathogenicrs794726890GRCh37Chr 3, 10183776: 10183776
14VHLNM_000551.3(VHL): c.449delA (p.Asn150Ilefs)deletionPathogenicrs794727253GRCh37Chr 3, 10188306: 10188306
15VHLNM_000551.3(VHL): c.586A> T (p.Lys196Ter)SNVPathogenicrs281860296GRCh37Chr 3, 10191593: 10191593
16VHLNM_000551.3(VHL): c.293A> C (p.Tyr98Ser)SNVLikely pathogenicrs864321643GRCh37Chr 3, 10183824: 10183824
17VHLNM_000551.3(VHL): c.337C> T (p.Arg113Ter)SNVPathogenicrs5030810GRCh37Chr 3, 10183868: 10183868
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)SNVPathogenicrs5030823GRCh37Chr 3, 10191555: 10191555
21VHLNM_000551.3(VHL): c.500G> A (p.Arg167Gln)SNVPathogenicrs5030821GRCh37Chr 3, 10191507: 10191507
22VHLNM_000551.3(VHL): c.481C> T (p.Arg161Ter)SNVPathogenicrs5030818GRCh37Chr 3, 10191488: 10191488
23VHLNM_000551.3(VHL): c.499C> T (p.Arg167Trp)SNVPathogenicrs5030820GRCh37Chr 3, 10191506: 10191506
24VHLNM_000551.3(VHL): c.499C> G (p.Arg167Gly)SNVPathogenicrs5030820GRCh37Chr 3, 10191506: 10191506
25VHLNM_000551.3(VHL): c.263G> C (p.Trp88Ser)SNVPathogenicrs119103277GRCh37Chr 3, 10183794: 10183794
26VHLNM_000551.3(VHL): c.334T> C (p.Tyr112His)SNVPathogenicrs104893824GRCh37Chr 3, 10183865: 10183865
27VHLNM_000551.3(VHL): c.292T> C (p.Tyr98His)SNVPathogenicrs5030809GRCh37Chr 3, 10183823: 10183823
28VHLNM_000551.3(VHL): c.496G> T (p.Val166Phe)SNVPathogenicrs104893825GRCh37Chr 3, 10191503: 10191503
29VHLNM_000551.3(VHL): c.562C> G (p.Leu188Val)SNVPathogenicrs5030824GRCh37Chr 3, 10191569: 10191569
30VHLNM_000551.3(VHL): c.191G> C (p.Arg64Pro)SNVLikely pathogenic, Pathogenicrs104893826GRCh37Chr 3, 10183722: 10183722
31VHLNM_000551.3(VHL): c.334T> A (p.Tyr112Asn)SNVPathogenicrs104893824GRCh37Chr 3, 10183865: 10183865
32VHLNM_000551.3(VHL): c.388G> C (p.Val130Leu)SNVPathogenicrs104893830GRCh37Chr 3, 10188245: 10188245
33VHLNM_000551.3(VHL): c.163dupG (p.Glu55Glyfs)duplicationPathogenicrs869025615GRCh37Chr 3, 10183694: 10183694
34VHLNM_000551.3(VHL): c.193T> G (p.Ser65Ala)SNVLikely pathogenicrs869025616GRCh37Chr 3, 10183724: 10183724
35VHLNM_000551.3(VHL): c.194C> A (p.Ser65Ter)SNVPathogenicrs5030826GRCh37Chr 3, 10183725: 10183725
36VHLNM_000551.3(VHL): c.203C> A (p.Ser68Ter)SNVPathogenicrs869025617GRCh37Chr 3, 10183734: 10183734
37VHLNM_000551.3(VHL): c.214T> C (p.Ser72Pro)SNVLikely pathogenicrs869025618GRCh37Chr 3, 10183745: 10183745
38VHLNM_000551.3(VHL): c.217C> T (p.Gln73Ter)SNVPathogenicrs869025619GRCh37Chr 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)SNVLikely pathogenicrs869025621GRCh37Chr 3, 10183763: 10183763
42VHLNM_000551.3(VHL): c.233A> C (p.Asn78Thr)SNVLikely pathogenicrs5030804GRCh37Chr 3, 10183764: 10183764
43VHLNM_000551.3(VHL): c.233A> T (p.Asn78Ile)SNVPathogenicrs5030804GRCh38Chr 3, 10142080: 10142080
44VHLNM_000551.3(VHL): c.257C> G (p.Pro86Arg)SNVLikely pathogenicrs730882034GRCh37Chr 3, 10183788: 10183788
45VHLNM_000551.3(VHL): c.264G> T (p.Trp88Cys)SNVLikely pathogenicrs869025622GRCh37Chr 3, 10183795: 10183795
46VHLNM_000551.3(VHL): c.269A> T (p.Asn90Ile)SNVLikely 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)SNVLikely pathogenicrs5030808GRCh38Chr 3, 10142124: 10142124
49VHLNM_000551.3(VHL): c.277G> T (p.Gly93Cys)SNVPathogenicrs5030808GRCh37Chr 3, 10183808: 10183808
50VHLNM_000551.3(VHL): c.293A> G (p.Tyr98Cys)SNVPathogenicrs864321643GRCh38Chr 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)SNVLikely pathogenicrs869025630GRCh38Chr 3, 10142158: 10142158
58VHLNM_000551.3(VHL): c.320G> A (p.Arg107His)SNVLikely pathogenicrs193922609GRCh37Chr 3, 10183851: 10183851
59VHLNM_000551.3(VHL): c.332G> A (p.Ser111Asn)SNVPathogenicrs869025631GRCh37Chr 3, 10183863: 10183863
60VHLNM_000551.3(VHL): c.333C> G (p.Ser111Arg)SNVLikely pathogenicrs765978945GRCh37Chr 3, 10183864: 10183864
61VHLNM_000551.3(VHL): c.335_340+5del11deletionPathogenicrs869025632GRCh37Chr 3, 10183866: 10183876
62VHLNM_000551.3(VHL): c.340+1G> ASNVPathogenicrs730882032GRCh37Chr 3, 10183872: 10183872
63VHLNM_000551.3(VHL): c.340+2_340+6deldeletionPathogenicrs869025634GRCh37Chr 3, 10183873: 10183877
64VHLNM_000551.3(VHL): c.340G> C (p.Gly114Arg)SNVPathogenicrs869025636GRCh37Chr 3, 10183871: 10183871
65VHLNM_000551.3(VHL): c.341-2A> GSNVPathogenicrs869025637GRCh37Chr 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)insertionPathogenicrs869025641GRCh37Chr 3, 10188209: 10188210
69VHLNM_000551.3(VHL): c.358A> G (p.Arg120Gly)SNVLikely pathogenicrs869025642GRCh38Chr 3, 10146531: 10146531
70VHLNM_000551.3(VHL): c.362A> G (p.Asp121Gly)SNVPathogenicrs5030832GRCh37Chr 3, 10188219: 10188219
71VHLNM_000551.3(VHL): c.374A> C (p.His125Pro)SNVPathogenicrs869025643GRCh38Chr 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=)SNVLikely 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)SNVLikely 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)SNVPathogenicrs587780077GRCh37Chr 3, 10188302: 10188302
84VHLNM_000551.3(VHL): c.452T> G (p.Ile151Ser)SNVPathogenicrs869025655GRCh37Chr 3, 10188309: 10188309
85VHLNM_000551.3(VHL): c.454_463+17deldeletionPathogenicrs869025656GRCh37Chr 3, 10188311: 10188337
86VHLNM_000551.3(VHL): c.463+1G> CSNVPathogenicrs869025657GRCh37Chr 3, 10188321: 10188321
87VHLNM_000551.3(VHL): c.464-1G> CSNVPathogenicrs5030817GRCh38Chr 3, 10149786: 10149786
88VHLNM_000551.3(VHL): c.464-1G> TSNVPathogenicrs5030817GRCh38Chr 3, 10149786: 10149786
89VHLNM_000551.3(VHL): c.464-2A> GSNVPathogenicrs5030816GRCh37Chr 3, 10191469: 10191469
90VHLNM_000551.3(VHL): c.470C> T (p.Thr157Ile)SNVPathogenicrs869025660GRCh38Chr 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)SNVPathogenicrs397516444GRCh38Chr 3, 10149808: 10149808
93VHLNM_000551.3(VHL): c.486C> A (p.Cys162Ter)SNVLikely pathogenicrs869025662GRCh38Chr 3, 10149809: 10149809
94VHLNM_000551.3(VHL): c.486C> G (p.Cys162Trp)SNVPathogenicrs869025662GRCh37Chr 3, 10191493: 10191493
95VHLNM_000551.3(VHL): c.490C> T (p.Gln164Ter)SNVLikely 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)SNVPathogenicrs864622109GRCh38Chr 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)SNVLikely pathogenicrs869025667GRCh37Chr 3, 10191600: 10191600
100VHLNM_000551.3(VHL): c.641G> T (p.Ter214Leu)SNVLikely pathogenicrs869025668GRCh38Chr 3, 10149964: 10149964
101VHLNM_000551.3(VHL): c.250G> T (p.Val84Leu)SNVPathogenicrs5030827GRCh37Chr 3, 10183781: 10183781
102VHLNM_000551.3(VHL): c.277G> A (p.Gly93Ser)SNVPathogenicrs5030808GRCh37Chr 3, 10183808: 10183808
103VHLNM_000551.3(VHL): c.491A> G (p.Gln164Arg)SNVPathogenicrs267607170GRCh37Chr 3, 10191498: 10191498
104VHLNM_000551.3(VHL): c.(?_-1)_(*1_?)deldeletionPathogenicChr na, -1: -1
105VHLNM_000551.3(VHL): c.464-?_*3705+?deldeletionPathogenicChr na, -1: -1
106VHLNM_000551.3(VHL): c.394C> T (p.Gln132Ter)SNVPathogenicrs5030813GRCh37Chr 3, 10188251: 10188251
107VHLNM_000551.3(VHL): c.242C> T (p.Pro81Leu)SNVLikely pathogenicrs193922608GRCh37Chr 3, 10183773: 10183773
108VHLNM_000551.3(VHL): c.320G> C (p.Arg107Pro)SNVLikely pathogenic, Pathogenicrs193922609GRCh37Chr 3, 10183851: 10183851
109VHLNM_000551.3(VHL): c.371C> T (p.Thr124Ile)SNVLikely pathogenicrs193922610GRCh37Chr 3, 10188228: 10188228
110VHLNM_000551.3(VHL): c.458T> A (p.Leu153Gln)SNVLikely pathogenicrs193922611GRCh37Chr 3, 10188315: 10188315
111VHLNM_000551.3(VHL): c.524A> G (p.Tyr175Cys)SNVLikely pathogenicrs193922613GRCh37Chr 3, 10191531: 10191531
112VHLp.X214TrpSNVLikely pathogenicChr na, -1: -1
113VHLNM_000551.3(VHL): c.194C> G (p.Ser65Trp)SNVPathogenicrs5030826GRCh37Chr 3, 10183725: 10183725
114VHLNM_000551.3(VHL): c.208G> A (p.Glu70Lys)SNVPathogenicrs5030802GRCh37Chr 3, 10183739: 10183739
115VHLNM_000551.3(VHL): c.319C> G (p.Arg107Gly)SNVPathogenicrs397516440GRCh37Chr 3, 10183850: 10183850
116VHLNM_000551.3(VHL): c.467A> G (p.Tyr156Cys)SNVPathogenicrs397516441GRCh37Chr 3, 10191474: 10191474
117VHLNM_000551.3(VHL): c.408delT (p.Phe136Leufs)deletionPathogenicrs397516442GRCh37Chr 3, 10188265: 10188265
118VHLNM_000551.3(VHL): c.463+2T> GSNVLikely pathogenicrs5030814GRCh37Chr 3, 10188322: 10188322
119VHLNM_000551.3(VHL): c.464-1G> ASNVPathogenicrs5030817GRCh37Chr 3, 10191470: 10191470
120VHLNM_000551.3(VHL): c.485G> T (p.Cys162Phe)SNVPathogenicrs397516444GRCh37Chr 3, 10191492: 10191492
121VHLNM_000551.3(VHL): c.497T> C (p.Val166Ala)SNVPathogenicrs397516445GRCh37Chr 3, 10191504: 10191504
122VHLNM_000551.3(VHL): c.233A> G (p.Asn78Ser)SNVPathogenicrs5030804GRCh37Chr 3, 10183764: 10183764
123VHLNM_000551.3(VHL): c.256C> G (p.Pro86Ala)SNVLikely pathogenic, Pathogenicrs398123481GRCh37Chr 3, 10183787: 10183787
124VHLNM_000551.3(VHL): c.326T> A (p.Ile109Asn)SNVLikely pathogenicrs398123482GRCh37Chr 3, 10183857: 10183857
125VHLNM_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 816)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1COSM144975VHLadrenal gland,adrenal gland,pheochromocytoma,benignc.475A>Gp.K159E12
2COSM329092NF1adrenal gland,adrenal gland,pheochromocytoma,benignc.1721+3A>Tp.A548fs*1312
3COSM17662VHLadrenal gland,adrenal gland,pheochromocytoma,benignc.492G>Tp.Q164H12
4COSM19176FGFR1adrenal gland,adrenal gland,pheochromocytoma,benignc.1638C>Ap.N546K12
5COSM330588NF1adrenal gland,adrenal gland,pheochromocytoma,benignc.2409+1G>Ap.A776_Q803del12
6COSM327926NF1adrenal gland,adrenal gland,pheochromocytoma,benignc.3158C>Ap.S1053*12
7COSM1732355H3F3Aadrenal gland,adrenal gland,pheochromocytoma,benignc.103G>Tp.G35W12
8COSM330587NF1adrenal gland,adrenal gland,pheochromocytoma,benignc.205-1G>Cp.R69fs*712
9COSM220089NF1adrenal gland,adrenal gland,pheochromocytoma,benignc.1885G>Ap.Q616fs*412
10COSM329090NF1adrenal gland,adrenal gland,pheochromocytoma,benignc.226G>Tp.E76*12
11COSM965RETadrenal gland,adrenal gland,pheochromocytoma,benignc.2753T>Cp.M918T12
12COSM329093NF1adrenal gland,adrenal gland,pheochromocytoma,benignc.1722-1G>Ap.?12
13COSM329089NF1adrenal gland,adrenal gland,pheochromocytoma,benignc.1466A>Gp.Y489C12
14COSM30670NF1adrenal gland,adrenal gland,pheochromocytoma,benignc.7646C>Gp.S2549*12
15COSM499HRASadrenal gland,adrenal gland,pheochromocytoma,benignc.182A>Gp.Q61R12
16COSM327927NF1adrenal gland,adrenal gland,pheochromocytoma,benignc.7582C>Tp.Q2528*12
17COSM707METadrenal gland,adrenal gland,pheochromocytoma,benignc.3029C>Tp.T1010I12
18COSM1710108NF1adrenal gland,adrenal gland,pheochromocytoma,benignc.7300C>Tp.Q2434*12
19COSM24441NF1adrenal gland,adrenal gland,pheochromocytoma,malignantc.3721C>Tp.R1241*9
20COSM14311VHLadrenal gland,adrenal gland,pheochromocytoma,malignantc.499C>Tp.R167W9
21COSM17666VHLadrenal gland,adrenal gland,pheochromocytoma,malignantc.593T>Cp.L198P9
22COSM329087NF1adrenal gland,adrenal gland,pheochromocytoma,malignantc.4558C>Tp.Q1520*9
23COSM3724576METkidney,NS,carcinoma,Type 1c.3616G>Tp.V1206L8
24COSM3724575METkidney,NS,carcinoma,Type 1c.3538C>Tp.H1180Y8
25COSM691METkidney,NS,carcinoma,Type 1c.3803T>Cp.M1268T8
26COSM132853NFE2L2kidney,NS,carcinoma,Type 2c.245A>Gp.E82G8
27COSM690METkidney,NS,carcinoma,Type 1c.3742T>Cp.Y1248H8
28COSM3724573METkidney,NS,carcinoma,Type 1c.3476C>Gp.S1159W8
29COSM3724578METkidney,NS,carcinoma,Type 1c.3637C>Tp.L1213F8
30COSM3724572METkidney,NS,carcinoma,Type 1c.3328G>Ap.V1110I8
31COSM704METkidney,NS,carcinoma,Type 1c.3446T>Cp.M1149T8
32COSM3724577METkidney,NS,carcinoma,Type 1c.3637C>Ap.L1213I8
33COSM30443TNFRSF19kidney,NS,carcinoma,clear cell renal cell carcinomac.181-1G>Tp.?7
34COSM26973BREkidney,NS,carcinoma,clear cell renal cell carcinomac.546C>Tp.S182S7
35COSM26976ATRXkidney,NS,carcinoma,clear cell renal cell carcinomac.4957G>Cp.V1653L7
36COSM26993PPARGkidney,NS,carcinoma,clear cell renal cell carcinomac.11C>Gp.T4S7
37COSM14400VHLkidney,NS,carcinoma,clear cell renal cell carcinomac.194C>Tp.S65L7
38COSM26985BTG2kidney,NS,carcinoma,clear cell renal cell carcinomac.223G>Ap.D75N7
39COSM25709PUS10kidney,NS,carcinoma,clear cell renal cell carcinomac.197C>Gp.P66R7
40COSM30293VHLkidney,NS,carcinoma,clear cell renal cell carcinomac.586A>Tp.K196*7
41COSM30489KMT2Dkidney,NS,carcinoma,clear cell renal cell carcinomac.1311G>Tp.E437D7
42COSM17734VHLkidney,NS,carcinoma,clear cell renal cell carcinomac.304C>Gp.P102A7
43COSM1732041PBRM1kidney,NS,carcinoma,clear cell renal cell carcinomac.1612T>Cp.S538P7
44COSM36358VHLkidney,NS,carcinoma,clear cell renal cell carcinomac.341-11T>Ap.?7
45COSM17658VHLkidney,NS,carcinoma,clear cell renal cell carcinomac.286C>Tp.Q96*7
46COSM249379CREBBPkidney,NS,carcinoma,clear cell renal cell carcinomac.5418G>Cp.K1806N7
47COSM34007VHLkidney,NS,carcinoma,clear cell renal cell carcinomac.227T>Cp.F76S7
48COSM5036PTENkidney,NS,carcinoma,clear cell renal cell carcinomac.202T>Cp.Y68H7
49COSM422817PBRM1kidney,NS,carcinoma,clear cell renal cell carcinomac.3601G>Tp.E1201*7
50COSM249579KCNA3kidney,NS,carcinoma,clear cell renal cell carcinomac.1018T>Ap.F340I7

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

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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 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
69.6HIF1A, VEGFA, VHL
7
Show member pathways
9.6CCND1, HIF1A, VEGFA
89.5CCND1, RASSF1, VEGFA
99.3CCND1, NF1, TSC2
109.2CCND1, HIF1A, TSC2
119.1CCND1, NF1, TSC2, VEGFA
129.0HIF1A, MET, RET
138.8CCND1, HIF1A, MET, VEGFA
148.7CCND1, MET, RASSF1, VEGFA
15
Show member pathways
8.0CCND1, MET, NF1, RASSF1, TSC2
167.8CCND1, 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:004527310.5SDHB, SDHC
2mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone)GO:000574910.3SDHB, SDHC, SDHD
3secretory granuleGO:00301419.4CHGA, CHGB, VEGFA

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1mammary gland alveolus developmentGO:006074910.6CCND1, VEGFA
2positive regulation of extrinsic apoptotic signaling pathway in absence of ligandGO:200124110.4NF1, RET
3positive regulation of cell sizeGO:004579310.4HIF1A, RET
4hemoglobin biosynthetic processGO:004254110.3HIF1A, INHA
5positive regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:006141910.3HIF1A, VEGFA
6positive regulation of vascular endothelial growth factor receptor signaling pathwayGO:003094910.3HIF1A, VEGFA
7lactationGO:000759510.2CCND1, HIF1A, VEGFA
8camera-type eye morphogenesisGO:004859310.1HIF1A, NF1, VEGFA
9positive regulation of endothelial cell proliferationGO:000193810.0HIF1A, NF1, VEGFA
10regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:006141810.0HIF1A, VEGFA, VHL
11cerebral cortex developmentGO:00219879.9HIF1A, NF1, NPY
12tricarboxylic acid cycleGO:00060999.8SDHB, SDHC, SDHD
13positive chemotaxisGO:00509189.3MET, TSC2, VEGFA

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

idNameGO IDScoreTop Affiliating Genes
1succinate dehydrogenase activityGO:000010410.2SDHC, SDHD
2ubiquinone bindingGO:004803910.0SDHB, SDHD
3electron carrier activityGO:000905510.0SDHB, SDHC, SDHD

Sources for Von Hippel-Lindau Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet