VHL
MCID: VNH001
MIFTS: 63

Von Hippel-Lindau Disease (VHL) malady

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

Summaries for Von Hippel-Lindau Disease

Sources:
43NIH Rare Diseases, 34MedlinePlus, 44NINDS, 21Genetics Home Reference, 47OMIM, 19GeneReviews, 33MalaCards
See all sources

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NINDS:44 Von Hippel-Lindau disease (VHL) is a rare, genetic multi-system disorder characterized by the abnormal growth of tumors in certain parts of the body. The tumors of the central nervous system (CNS) are benign and are comprised of a nest of blood vessels and are called hemangioblastomas. Hemangioblastomas may develop in the brain, the retina of the eyes, and other areas of the nervous system. Other types of tumors develop in the adrenal glands, the kidneys, or the pancreas. Symptoms of VHL vary among patients and depend on the size and location of the tumors. Symptoms may include headaches, problems with balance and walking, dizziness, weakness of the limbs, vision problems, and high blood pressure. Cysts (fluid-filled sacs) and/or tumors (benign or cancerous) may develop around the hemangioblastomas and cause the symptoms listed above. Individuals with VHL are also at a higher risk than normal for certain types of cancer, especially kidney cancer.

MalaCards: Von Hippel-Lindau Disease, also known as von hippel-lindau syndrome, is related to pheochromocytoma and angiomatosis, and has symptoms including nausea/vomiting/regurgitation/merycism/hyperemesis, cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia and motor deficit/trouble. An important gene associated with Von Hippel-Lindau Disease is VHL (von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase), and among its related pathways are Glioma and Pyruvate metabolism. The compounds UBIQUINONE-1 and 2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and kidney, and related mouse phenotypes are endocrine/exocrine gland and limbs/digits/tail.

NIH Rare Diseases:43 Von hippel-lindau (vhl) disease is a genetic multi-system disorder characterized by the abnormal growth of tumors in certain parts of the body (angiomatosis). the specific tumors that are associated with vhl disease include hemangioblastomas (tumors comprised of a nest of blood vessels) of the brain, spinal cord, and retina; kidney cysts and clear cell kidney cell carcinoma; pheochromocytoma (a type of noncancerous tumor that affects the adrenal glands, which are the small hormone-producing glands located on top of each kidney); and endolymphatic sac tumors (a type of tumor of the inner ear area called the endolymphatic sac). mutations in the vhl gene cause vhl disease. these mutations are  inherited in an autosomal dominant pattern. detecting and treating vhl early is important. treatment usually involves surgery or sometimes radiation therapy. the goal is to treat growths while they are small and before they do permanent damage. last updated: 5/20/2013

MedlinePlus:34 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

Genetics Home Reference:21 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.

Description from OMIM:47 193300

GeneReviews summary for vhl

Aliases & Classifications for Von Hippel-Lindau Disease

Sources:
8Disease Ontology, 9diseasecard, 64Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 44NINDS, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 34MedlinePlus, 61UMLS, 35MeSH, 57SNOMED-CT, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal, Cancer, Genetic
Anatomical: Neuronal, Eye, Cardiovascular, Nephrological, Endocrine


Characteristics (Orphanet epidemiological data):

49
von hippel-lindau syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Adulthood; Age of death: Elderly


Aliases & Descriptions:

von hippel-lindau disease 8 64 19 43 21 44 10 45 49 34
von hippel-lindau syndrome 8 9 19 43 20 22 21 47 49 61
vhl syndrome 64 19 43 21
hippel-lindau disease 64 21 49
cerebelloretinal angiomatosis, familial 64 21
angiomatosis retinae 19 21
vhl 43 49
familial cerebelloretinal angiomatosis 49
angiomatosis of retina 61
hippel lindau syndrome 8
lindau disease 49


External Ids:

Disease Ontology8 DOID:14175
MeSH35 D006623
OMIM47 193300
NCIt40 C3105
SNOMED-CT57 46659004
MESH via Orphanet36 D006623
ICD10 via Orphanet26 Q85.8
SNOMED-CT via Orphanet58 46659004
UMLS via Orphanet62 C0019562

Related Diseases for Von Hippel-Lindau Disease

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Von Hippel-Lindau Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 220)
idRelated DiseaseScoreTop Affiliating Genes
1pheochromocytoma31.7VHL, RET, SDHD, SDHB
2angiomatosis31.3VHL
3cystadenoma31.2INHA, VHL
4multiple endocrine neoplasia31.1VHL, MEN1, RET, PNMT, SDHD, SDHB
5renal clear cell carcinoma31.1VHL, MET, VEGFA, HIF1A, INHA, RASSF1
6phaeochromocytoma31.1NPY, RET, SDHD, SDHB, SDHC
7paraganglioma31.0VHL, MEN1, HIF1A, SDHC, SDHB, SDHD
8adenoma31.0VHL, CCND1, MEN1, MET, RET, INHA
9tuberous sclerosis30.7VHL, PKD1, TSC2
10neurofibromatosis30.7VHL, RET, SDHD, SDHB, SDHC
11polycystic kidney disease30.7VHL, PKD1, TSC2
12acute leukemia30.5TSC2
13peutz-jeghers syndrome30.5TSC2, INHA, VHL
14autosomal dominant disease30.5RET
15pancreatic islet cell tumors30.5RET, MEN1
16cushing's syndrome30.5NPY, MEN1, RET, INHA
17astrocytoma30.5VHL, MET, VEGFA, HIF1A, INHA, RASSF1
18adenocarcinoma30.5VHL, CCND1, MEN1, MET, VEGFA, HIF1A
19hereditary paraganglioma-pheochromocytoma syndromes30.2SDHD, SDHB, SDHC
20multiple endocrine neoplasia type 2a30.2VHL, MEN1, RET, SDHD, SDHB, SDHC
21squamous cell carcinoma30.2VHL, CCND1, MET, VEGFA, HIF1A, INHA
22ganglioneuroma30.1NPY, RET, RASSF1
23wilms tumor30.0VHL, INHA, RASSF1
24thyroid medullary carcinoma30.0VHL, MEN1, RET
25vascular cancer30.0VHL
26colorectal cancer30.0CCND1, NPY, MEN1, MET, VEGFA, HIF1A
27adrenal adenoma29.8VHL, MEN1, INHA, SDHD, SDHB, SDHC
28retinal hemangioblastoma10.8
29spinal cord disease10.8
30brain disease10.8
31vascular disease10.8
32clear cell renal cell carcinoma10.8
33n syndrome10.6
34erythrocytosis10.6
35pancreatic endocrine carcinoma10.5
36papillary renal cell carcinoma10.5
37somatostatinoma10.5
38anal neuroendocrine tumor10.5
39microcystic adenoma10.5
40cochlear disease10.5
41papillary adenoma10.5
42sturge-weber syndrome10.5
43weber syndrome10.5
44hypoxia10.5
45renal cell carcinoma, clear cell, somatic10.5
46renal cell carcinoma, somatic10.5
47von hippel-lindau disease, modifier of10.5
48sporadic pheochromocytoma10.5
49familial erythrocytosis 210.4
50bone carcinoma10.3

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



Diseases related to von hippel-lindau disease

Clinical Features for Von Hippel-Lindau Disease

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

193300

Clinical synopsis from OMIM:

193300

Symptoms:

49 (show all 43)
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • motor deficit/trouble
  • nystagmus
  • hyperhidrosis/increased sweating
  • abnormal gait
  • ataxia/incoordination/trouble of the equilibrium
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • autosomal dominant inheritance
  • chronic arterial hypertension
  • hydrocephaly
  • cataract/lens opacification
  • hearing loss/hypoacusia/deafness
  • cranial hypertension
  • vascular anomalies of skin/mucosae
  • mild visual loss/impaired visual acuity
  • sensorineural deafness/hearing loss
  • visual loss/blindness/amblyopia
  • cardiac rhythm disorder/arrhythmia
  • telangiectasiae of the skin
  • sensitive trouble/deficit
  • arteriovenous malformations/vascular malformations (excluding port-wine stains)
  • structural anomalies of the pancreas
  • facial pain/cephalalgia/migraine
  • retinal vascular anomalies/retinal telangiectasia
  • congenital pancreatic cyst
  • visceral angiomatosis (excluding skin)
  • cerebral vascular anomalies
  • kidney/renal neoplasm/tumor/carcinoma/cancer
  • vascular malignancy/tumor
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • renal/kidney anomalies
  • multicystic kidney/renal dysplasia
  • glaucoma
  • retinal detachment
  • anomalies of the lymphatic system
  • polycystic kidneys
  • spermatocele/epididymal/funicular/spermatic/vaginal/albugineal cyst
  • neoplasms/tumors
  • pheochromocytoma/paraganglioma
  • neuroendocrine tumor/apudoma/carcinoid
  • middle ear neoplasm/tumor/carcinoma/cancer

Drugs & Therapeutics for Von Hippel-Lindau Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Von Hippel-Lindau Disease

Drug clinical trials:

Search ClinicalTrials for Von Hippel-Lindau Disease

Search NIH Clinical Center for Von Hippel-Lindau Disease

Search CenterWatch for Von Hippel-Lindau Disease

Genetic Tests for Von Hippel-Lindau Disease

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Von Hippel-Lindau Disease:

id Genetic test Affiliating Genes
1 Von Hippel-lindau Disease20 VHL
2 Von Hippel-lindau Syndrome22
3 Von Hippel-lindau22

Anatomical Context for Von Hippel-Lindau Disease

Sources:
33MalaCards
See all sources

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

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

Animal Models for Von Hippel-Lindau Disease or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Von Hippel-Lindau Disease:

37 (show all 22)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537910.5MEN1, OXTR, RET, INHA, CCND1
2MP:000537110.5PKD1
3MP:000363110.4NPY, SDHD, RET, OXTR, PKD1
4MP:000537610.3SDHD, TSC2, PNMT, RET, PKD1, MEN1
5MP:000536910.3RET, VHL, MEN1, HIF1A, MET, OXTR
6MP:000536710.2TSC2, VHL, NPY, MET, PKD1, VEGFA
7MP:000537010.2MET, TSC2, HIF1A, VHL, NPY, MEN1
8MP:000538210.2HIF1A, VEGFA, PKD1, MET, MEN1, CCND1
9MP:000538910.2TSC2, VHL, CCND1, MEN1, VEGFA, RET
10MP:000538010.2RET, HIF1A, VEGFA, PKD1, MET, VHL
11MP:000538110.2VHL, PKD1, VEGFA, HIF1A, RET, INHA
12MP:000200610.1MET, VEGFA, HIF1A, RET, INHA, RASSF1
13MP:000538510.0VEGFA, SDHD, MEN1, MET, PKD1, HIF1A
14MP:000537810.0NPY, OXTR, CCND1, MEN1, MET, PKD1
15MP:000539710.0TSC2, RET, HIF1A, VEGFA, PKD1, CCND1
16MP:000538710.0VEGFA, RASSF1, VHL, CCND1, MEN1, PKD1
17MP:000538410.0CCND1, SDHD, TSC2, VHL, MEN1, MET
18MP:001076810.0CCND1, SDHC, SDHD, MEN1, MET, PKD1
19MP:000287310.0HIF1A, INHA, RASSF1, RET, SDHD, TSC2
20MP:000539010.0CCND1, NPY, INHA, PKD1, VEGFA, HIF1A
21MP:00053869.9OXTR, RET, TSC2, SDHD, VEGFA, MET
22MP:00107719.8OXTR, VEGFA, HIF1A, PKD1, TSC2, CCND1

Publications for Von Hippel-Lindau Disease

Genetic Variations for Von Hippel-Lindau Disease

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Von Hippel-Lindau Disease:

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

Expression for genes affiliated with Von Hippel-Lindau Disease

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Von Hippel-Lindau Disease

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

Pathways for genes affiliated with Von Hippel-Lindau Disease

Sources:
30KEGG, 38NCBI BioSystems Database, 54Reactome, 12EMD Millipore, 52QIAGEN
See all sources

Pathways related to Von Hippel-Lindau Disease according to GeneCards/GeneDecks:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.4TSC2
2
Hide members
10.3SDHD, SDHB, SDHC
3
Hide members
10.3SDHC, SDHB, SDHD
4
Hide members
10.3SDHD, SDHB, SDHC
5
Hide members
10.3HIF1A, VEGFA, VHL
6
Development Ligand-dependent activation of the ESR1/AP-1 pathway
Hide members
10.3HIF1A, VEGFA, CCND1
710.3VHL, VEGFA, TCEB2
8
Hide members
10.3TSC2, MET, CCND1
910.2CCND1, MET, VEGFA, HIF1A
1010.2VHL, HIF1A, CUL2, TCEB2
1110.2TCEB2, CUL2, HIF1A, VHL
1210.2RASSF1, VEGFA, MET, CCND1
13
Translation Insulin regulation of translation
Hide members
10.2MET, VEGFA, HIF1A, TSC2
14
Hide members
10.2VHL, VEGFA, HIF1A, CUL2, TCEB2
1510.2TCEB2, CUL2, HIF1A, VEGFA, VHL
16
Hide members
10.1TCEB2, CUL2, HIF1A, VEGFA, MET, VHL
1710.1TCEB2, CUL2, RASSF1, RET, HIF1A, CCND1

Compounds for genes affiliated with Von Hippel-Lindau Disease

Sources:
11DrugBank, 45Novoseek, 29IUPHAR, 24HMDB, 50PharmGKB, 60Tocris Bioscience, 2BitterDB
See all sources

Compounds related to Von Hippel-Lindau Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 66)
idCompoundScoreTop Affiliating Genes
1UBIQUINONE-11110.8SDHC, SDHD, SDHB
22-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol1110.7SDHC, SDHB, SDHD
3cobalt chloride4510.7VEGFA, VHL, HIF1A
4succinic acid29 11 2412.7SDHC, SDHB, SDHD
5iron-sulfur4510.7SDHB, SDHC, SDHD
6ubiquinone4510.7SDHC, SDHB, SDHD
7fumarate45 1111.7SDHC, SDHD, VHL, HIF1A, SDHB
8sunitinib45 50 1112.7RET, HIF1A, VEGFA, VHL
9crcs4510.6MET, CCND1, RASSF1, HIF1A
103-(5-hydroxymethyl-2-furyl)-1-benzylindazole4510.6HIF1A, VEGFA
11sorafenib45 50 1112.6RET, VHL, CCND1, VEGFA
12nickel45 2411.6SDHB, CUL2, HIF1A
13geldanamycin45 50 60 1113.6CCND1, MET, VEGFA, HIF1A, VHL
14catecholamine4510.6NPY, RET, PNMT, SDHD, SDHB
15nicotine45 50 29 1113.6CCND1, HIF1A, VHL, NPY, PNMT
16succinate4510.6HIF1A, VHL, SDHD, SDHB, SDHC, RET
17ns 39845 6011.6CCND1, HIF1A, VEGFA
18dopamine45 29 11 2413.6PNMT, HIF1A, OXTR, NPY, SDHB
19agar4510.5CCND1, RASSF1, RET, HIF1A, MET
20Cabozantinib1110.5MET, RET
21glycogen45 2411.5VHL, CCND1, MET, TSC2, SDHB
22rapamycin4510.5VEGFA, PKD1, CCND1, VHL, HIF1A, TSC2
23wortmannin4510.5RET, TSC2, HIF1A, MET, CCND1
24steroid4510.5INHA, OXTR, TSC2, SDHC, CCND1
25ly2940024510.5TSC2, RET, HIF1A, VEGFA, MET, CCND1
26folate4510.5RASSF1, VHL, NPY, CCND1
27oxygen45 2411.4VHL, MET, HIF1A, TSC2, SDHD, SDHB
28phosphoinositide4510.4CCND1, MET, TSC2, OXTR, HIF1A
29oligonucleotide4510.4HIF1A, RET, MET, INHA, RASSF1, VHL
30iron45 2411.4SDHC, VHL, SDHB, SDHD, HIF1A
31arginine4510.4OXTR, SDHB, TSC2, RET, HIF1A, NPY
32alpha-ketoglutarate4510.4HIF1A, SDHB, VHL
33threonine4510.4CCND1, RASSF1, RET, MET, PKD1, TSC2
34paraffin4510.4RET, CCND1, HIF1A, INHA, TSC2, NPY
35phosphatidylinositol4510.4MET, VHL, CCND1, RET, OXTR, HIF1A
36genistein45 29 60 2 11 2415.4CCND1, MET, VEGFA, HIF1A, RET
37retinoic acid45 2411.4RET, HIF1A, SDHC, RASSF1, MET, NPY
38alanine4510.4NPY, PKD1, OXTR, HIF1A, INHA, RASSF1
39atp45 2911.4NPY, PKD1, HIF1A, RET, TSC2, SDHB
40glucose4510.4TCEB2, NPY, TSC2, SDHB, HIF1A, MET
41testosterone45 60 11 2413.3PKD1, RET, SDHB, TSC2, INHA, HIF1A
42trastuzumab45 50 1112.3CCND1, HIF1A, VEGFA
43nitric oxide45 11 2412.3MET, OXTR, NPY, HIF1A, PNMT, VHL
44cisplatin45 50 60 1113.3CCND1, MET, RASSF1, HIF1A, VEGFA
45serine4510.3OXTR, RET, CCND1, TSC2, PKD1, HIF1A
46arginine vasotocin4510.2OXTR, NPY
47vegf4510.2RET, VHL, CCND1, MEN1, MET, SDHC
48thymidine45 2411.2HIF1A, CCND1, OXTR, MET, MEN1
49tyrosine4510.1NPY, PKD1, VEGFA, OXTR, HIF1A, SDHB
50flavopiridol45 1111.0HIF1A, VEGFA, CCND1

GO Terms for genes affiliated with Von Hippel-Lindau Disease

Sources:
16Gene Ontology
See all sources

Cellular components related to Von Hippel-Lindau Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial respiratory chain complex IIGO:00574910.2SDHD, SDHB, SDHC
2nucleoplasmGO:00565410.1VHL, CCND1, MEN1, HIF1A, CUL2, TCEB2
3Cul2-RING ubiquitin ligase complexGO:03146210.0CUL2, TCEB2

Biological processes related to Von Hippel-Lindau Disease according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1tricarboxylic acid cycleGO:00609910.5SDHD, SDHB, SDHC
2positive regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:06141910.5VEGFA, HIF1A
3branching morphogenesis of an epithelial tubeGO:04875410.5MET, PKD1, VEGFA
4hemoglobin biosynthetic processGO:04254110.4INHA, HIF1A
5lactationGO:00759510.4CCND1, VEGFA, OXTR, HIF1A
6regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:06141810.4VEGFA, VHL, HIF1A, CUL2, TCEB2
7cellular response to hypoxiaGO:07145610.4VEGFA, VHL, TCEB2, CUL2, HIF1A
8mammary gland alveolus developmentGO:06074910.3VEGFA, CCND1
9cell cycle arrestGO:00705010.3MEN1, PKD1, INHA, RASSF1, CUL2, TSC2
10liver developmentGO:00188910.3PKD1, MET, CCND1
11respiratory electron transport chainGO:02290410.2SDHC, SDHD, SDHB
12dopaminergic neuron differentiationGO:07154210.1HIF1A, VEGFA

Molecular functions related to Von Hippel-Lindau Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ubiquinone bindingGO:04803910.4SDHB, SDHD
2protein bindingGO:0055159.2SDHB, VHL, CCND1, MEN1, MET, USP20

Products for genes affiliated with Von Hippel-Lindau Disease

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Von Hippel-Lindau Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet