PKWS
MCID: PRK003
MIFTS: 37

Parkes Weber Syndrome (PKWS)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Parkes Weber Syndrome

MalaCards integrated aliases for Parkes Weber Syndrome:

Name: Parkes Weber Syndrome 54 26 60 76 38 30 6 41
Pkws 54 26 76
Parkes-Weber Syndrome 26

Characteristics:

Orphanet epidemiological data:

60
parkes weber syndrome
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

KEGG 38 H00532
ICD10 via Orphanet 35 Q87.2
UMLS via Orphanet 75 C0038505
Orphanet 60 ORPHA90307
MedGen 43 CN074207

Summaries for Parkes Weber Syndrome

NIH Rare Diseases : 54 Parkes Weber syndrome (PWS) is a rare congenital condition characterized by a large number of abnormal blood vessels. The main signs and symptoms of PWS typically include a capillary malformation on the skin; hypertrophy (excessive growth) of the bone and soft tissue of the affected limb; and multiple arteriovenous fistulas (abnormal connections between arteries and veins) which can potentially lead to heart failure. There also may be pain in the affected limb and a difference in size between the limbs. Some cases of Parkes Weber syndrome result from mutations in the RASA1 gene, and are inherited in an autosomal dominant manner. In these cases, affected people usually have multiple capillary malformations. People with PWS without multiple capillary malformations are unlikely to have mutations in the RASA1 gene; in these cases, the cause of the condition is often unknown. Management typically depends on the presence and severity of symptoms and may include embolization or surgery in the affected limb.

MalaCards based summary : Parkes Weber Syndrome, also known as pkws, is related to weber syndrome and capillary malformation-arteriovenous malformation 1. An important gene associated with Parkes Weber Syndrome is RASA1 (RAS P21 Protein Activator 1), and among its related pathways/superpathways is MAPK signaling pathway. The drugs Tranexamic Acid and Sirolimus have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and heart, and related phenotypes are abnormal bleeding and telangiectasia of the skin

Genetics Home Reference : 26 Parkes Weber syndrome is a disorder of the vascular system, which is the body's complex network of blood vessels. The vascular system consists of arteries, which carry oxygen-rich blood from the heart to the body's various organs and tissues; veins, which carry blood back to the heart; and capillaries, which are tiny blood vessels that connect arteries and veins.

Wikipedia : 77 Parkes Weber syndrome (PWS) is a congenital disorder of the vascular system. It is an extremely rare... more...

Related Diseases for Parkes Weber Syndrome

Diseases related to Parkes Weber Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 weber syndrome 30.4 CCNH RASA1
2 capillary malformation-arteriovenous malformation 1 11.6
3 klippel-trenaunay-weber syndrome 11.5
4 capillary malformation-arteriovenous malformation 2 11.3
5 arteriovenous malformation 10.3
6 arteriovenous fistula 10.1
7 muscle hypertrophy 10.0
8 pulmonary hypertension 10.0
9 disseminated intravascular coagulation 10.0
10 poems syndrome 10.0
11 nodular nonsuppurative panniculitis 10.0
12 panniculitis 10.0
13 ischemia 10.0
14 aortic valve insufficiency 10.0
15 femoral agenesis/hypoplasia 10.0
16 lower limb hypertrophy 10.0

Graphical network of the top 20 diseases related to Parkes Weber Syndrome:



Diseases related to Parkes Weber Syndrome

Symptoms & Phenotypes for Parkes Weber Syndrome

Human phenotypes related to Parkes Weber Syndrome:

60 33 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal bleeding 60 33 hallmark (90%) Very frequent (99-80%) HP:0001892
2 telangiectasia of the skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0100585
3 nevus flammeus 60 33 hallmark (90%) Very frequent (99-80%) HP:0001052
4 peripheral arteriovenous fistula 60 33 hallmark (90%) Very frequent (99-80%) HP:0100784
5 hypertrophy of the upper limb 60 33 hallmark (90%) Very frequent (99-80%) HP:0010484
6 hypertrophy of the lower limb 60 33 hallmark (90%) Very frequent (99-80%) HP:0010496
7 varicose veins 60 33 frequent (33%) Frequent (79-30%) HP:0002619
8 congestive heart failure 60 33 occasional (7.5%) Occasional (29-5%) HP:0001635
9 glaucoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000501
10 headache 60 33 occasional (7.5%) Occasional (29-5%) HP:0002315
11 hemiparesis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001269
12 vascular skin abnormality 60 Occasional (29-5%)

GenomeRNAi Phenotypes related to Parkes Weber Syndrome according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 8.62 CCNH RASA1

Drugs & Therapeutics for Parkes Weber Syndrome

Drugs for Parkes Weber Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 33)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tranexamic Acid Approved Phase 3 1197-18-8 5526
2
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 46835353 5284616 6436030
3
Everolimus Approved Phase 2, Phase 3 159351-69-6 70789204 6442177
4
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
5 Antifibrinolytic Agents Phase 3
6 Coagulants Phase 3
7 Hemostatics Phase 3
8 Immunologic Factors Phase 2, Phase 3
9 Antibiotics, Antitubercular Phase 2, Phase 3
10 Anti-Bacterial Agents Phase 2, Phase 3
11 Immunosuppressive Agents Phase 2, Phase 3
12 Antifungal Agents Phase 2, Phase 3
13 Anti-Infective Agents Phase 2, Phase 3
14 Pharmaceutical Solutions Phase 2, Phase 3,Phase 1
15 Angiogenesis Inhibitors Phase 2
16 Angiogenesis Modulating Agents Phase 2
17 Anticonvulsants Phase 1, Phase 2
18 Epidiolex Phase 1, Phase 2
19
Timolol Approved Phase 1 26839-75-8 5478 33624
20
Maleic acid Experimental, Investigational Phase 1 110-17-8, 110-16-7 444972
21 Neurotransmitter Agents Phase 1
22 Lubricant Eye Drops Phase 1
23 Adrenergic Agents Phase 1
24 Adrenergic Antagonists Phase 1
25 Antihypertensive Agents Phase 1
26 Anti-Arrhythmia Agents Phase 1
27 Ophthalmic Solutions Phase 1
28 Adrenergic beta-Antagonists Phase 1
29 Immunoglobulins
30 Antibodies
31 Endothelial Growth Factors
32 Mitogens
33 GTPase-Activating Proteins Not Applicable

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 Tranexamic Acid and Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01031992 Phase 3 Tranexamic acid first, than placebo;First placebo, than Tranexamic acid.
2 Trial of Sirolimus for Cognitive Impairment in Sturge-Weber Syndrome Recruiting NCT03047980 Phase 2, Phase 3 Sirolimus
3 Efficacy and Safety Study of Topical Rapamycin Associated With Pulsed Dye Laser in Patients With Sturge-Weber Syndrome Completed NCT02080624 Phase 2 Drug: Topical Rapamycin
4 Efficacy of Thalidomide in the Treatment of Hereditary Hemorrhagic Telangiectasia Completed NCT01485224 Phase 2 Thalidomide
5 Cannabidiol Expanded Access Study in Medically Refractory Sturge-Weber Syndrome Active, not recruiting NCT02332655 Phase 1, Phase 2 Cannabidiol
6 Adjunctive Everolimus (RAD 001) Therapy for Epilepsy in Children With Sturge-Weber Syndrome (SWS) Withdrawn NCT01997255 Phase 2 Everolimus
7 Use of the Atkins Diet for Children With Sturge Weber Syndrome Completed NCT00639730 Phase 1
8 Treatment of Port-wine Mark in Sturge-Weber Syndrome Using Topical Timolol Terminated NCT01533376 Phase 1 Timolol;Preservative free artificial tear gel.
9 Institutional Registry of Haemorrhagic Hereditary Telangiectasia Unknown status NCT01761981
10 Incidence of Ocular Antibodies in Patients With Sturge - Weber Syndrome (SWS) Completed NCT00610402
11 Biomarker Development in Sturge-Weber Syndrome Completed NCT01345305
12 Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial Differences Completed NCT00340964
13 Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome Recruiting NCT01425944
14 Immunmodulation in Patients With HHT Recruiting NCT02983253
15 Identification of Biomarkers for Patients With Vascular Anomalies Recruiting NCT03001180
16 Lymphatic Anomalies Registry Recruiting NCT02399527
17 French National Cohort of Children With Port Wine Stain Active, not recruiting NCT01364857 Not Applicable
18 Symptoms and Treatment Results in Hereditary Hemorrhagic Telangiectasia Active, not recruiting NCT02690246

Search NIH Clinical Center for Parkes Weber Syndrome

Genetic Tests for Parkes Weber Syndrome

Genetic tests related to Parkes Weber Syndrome:

# Genetic test Affiliating Genes
1 Parkes Weber Syndrome 30

Anatomical Context for Parkes Weber Syndrome

MalaCards organs/tissues related to Parkes Weber Syndrome:

42
Skin, Bone, Heart, Eye, Endothelial

Publications for Parkes Weber Syndrome

Articles related to Parkes Weber Syndrome:

(show all 40)
# Title Authors Year
1
Hand Ischemia due to Steal Syndrome Associated with Multiple Arteriovenous Malformations in a Patient with Parkes-Weber Syndrome. ( 30760156 )
2019
2
Parkes Weber syndrome presenting as Stewart-Bluefarb acroangiodermatitis. ( 30852501 )
2019
3
Parkes Weber Syndrome. ( 31086946 )
2019
4
Parkes Weber syndrome: a case of right lower limb hypertrophy. ( 26471502 )
2018
5
Giant popliteal vein aneurysm in Parkes-Weber syndrome. ( 29162342 )
2018
6
Spinal Arteriovenous Malformation Associated with Parkes Weber Syndrome: Report of Two Cases and Literature Review. ( 28645597 )
2017
7
Pulmonary hypertension associated with Parkes-Weber syndrome (a rare congenital arteriovenous malformation). ( 27707981 )
2017
8
Parkes Weber syndrome-Diagnostic and management paradigms: A systematic review. ( 27511883 )
2017
9
Nodular Proliferation in Parkes Weber Syndrome. ( 27575310 )
2017
10
Combined surgical and endovascular treatment of complex high-flow conus medullaris arteriovenous fistula associated with Parkes Weber syndrome: case report. ( 27015132 )
2016
11
Chronic foot ulcer caused by Parkes Weber syndrome. ( 27197605 )
2016
12
A rare case of worsening of Parkes-Weber syndrome with development of POEMS syndrome. ( 27649853 )
2016
13
Parkes-Weber syndrome. ( 25553944 )
2015
14
Parkes weber syndrome involving right lower limb: a case report. ( 25972672 )
2015
15
Unusual Case of Parkes Weber Syndrome with Aneurysm of the Left Common Iliac Vein and Thrombus in Inferior Vena Cava. ( 26122423 )
2015
16
Rat Model of Parkes Weber Syndrome. ( 26217941 )
2015
17
Giant arteriovenous fistula in Parkes Weber syndrome. ( 24970657 )
2014
18
Stewart-bluefarb acroangiodermatitis in a case of parkes-weber syndrome. ( 25071266 )
2014
19
Distinctive features of stump volume change in a fresh lower limb amputee with Parkes-Weber syndrome. ( 25336554 )
2014
20
Images in clinical medicine. Parkes Weber syndrome. ( 25427114 )
2014
21
Challenges in orthopaedic management of Parkes-Weber syndrome. ( 23606384 )
2013
22
Diagnosis and treatment of Parkes Weber syndrome: a review of 10 consecutive patients. ( 23880459 )
2013
23
Parkes Weber syndrome and spinal arteriovenous malformations. ( 23928137 )
2013
24
Parkes-Weber syndrome and giant superficial femoral artery aneurysm. Treatment by endovascular therapy and follow-up of 8 years. ( 21183311 )
2011
25
General anesthesia in a patient with Parkes Weber syndrome with high-output cardiac failure due to multiple arteriovenous fistulas complicated by severe aortic regurgitation. ( 20140461 )
2010
26
Parkes-Weber syndrome associated with a congenital short femur of the affected limb. ( 18835518 )
2009
27
Images in vascular medicine. Parkes Weber syndrome: bone involvement visualized by computed tomography angiography. ( 19144783 )
2009
28
Successful obstetrical management of a woman with Parkes-Weber syndrome. ( 18439741 )
2008
29
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. ( 18446851 )
2008
30
Parkes Weber syndrome occurring in a family with capillary malformations. ( 17551330 )
2007
31
Images in cardiovascular medicine. Multimodality imaging of hemangiectasia hypertrophicans (Klippel-Trenaunay-Parkes-Weber syndrome). ( 15353513 )
2004
32
Klippel trenaunay Parkes-Weber syndrome. ( 17642585 )
2004
33
Hemodynamic observations in a newborn with Parkes-Weber syndrome. ( 10190931 )
1999
34
Multiple spinal perimedullary arteriovenous fistulae associated with the parkes-weber syndrome. A case report. ( 20673403 )
1998
35
Lower leg fracture with Parkes-Weber syndrome complicated by disseminated intravascular coagulation. ( 8537852 )
1995
36
A case of the Klippel-Trenaunay-Parkes Weber syndrome. ( 50699 )
1975
37
Klippel-Trenaunay-Parkes-Weber Syndrome. ( 5732668 )
1968
38
The Klippel-Trenaunay-Parkes Weber syndrome. ( 5231804 )
1966
39
Hemangiectatic hypertrophy (Parkes Weber Syndrome). ( 15411239 )
1950
40
Nodular nonsuppurative panniculitis; Parkes-Weber syndrome. ( 18098648 )
1948

Variations for Parkes Weber Syndrome

ClinVar genetic disease variations for Parkes Weber Syndrome:

6 (show top 50) (show all 96)
# Gene Variation Type Significance SNP ID Assembly Location
1 RASA1 NM_002890.2(RASA1): c.296C> T (p.Ala99Val) single nucleotide variant Benign/Likely benign rs111840875 GRCh37 Chromosome 5, 86564564: 86564564
2 RASA1 NM_002890.2(RASA1): c.296C> T (p.Ala99Val) single nucleotide variant Benign/Likely benign rs111840875 GRCh38 Chromosome 5, 87268747: 87268747
3 RASA1 NM_002890.2(RASA1): c.1777-14T> A single nucleotide variant Benign rs36000817 GRCh37 Chromosome 5, 86669966: 86669966
4 RASA1 NM_002890.2(RASA1): c.1777-14T> A single nucleotide variant Benign rs36000817 GRCh38 Chromosome 5, 87374149: 87374149
5 RASA1 NM_002890.2(RASA1): c.2528C> A (p.Thr843Asn) single nucleotide variant Benign/Likely benign rs184201084 GRCh38 Chromosome 5, 87379775: 87379775
6 RASA1 NM_002890.2(RASA1): c.2528C> A (p.Thr843Asn) single nucleotide variant Benign/Likely benign rs184201084 GRCh37 Chromosome 5, 86675592: 86675592
7 RASA1 NM_002890.2(RASA1): c.-122_-120delGTT deletion Likely benign rs371042291 GRCh38 Chromosome 5, 87268330: 87268332
8 RASA1 NM_002890.2(RASA1): c.-122_-120delGTT deletion Likely benign rs371042291 GRCh37 Chromosome 5, 86564147: 86564149
9 RASA1 NM_002890.2(RASA1): c.224G> C (p.Gly75Ala) single nucleotide variant Likely benign rs200002693 GRCh38 Chromosome 5, 87268675: 87268675
10 RASA1 NM_002890.2(RASA1): c.224G> C (p.Gly75Ala) single nucleotide variant Likely benign rs200002693 GRCh37 Chromosome 5, 86564492: 86564492
11 RASA1 NM_002890.2(RASA1): c.899+8A> G single nucleotide variant Uncertain significance rs781285667 GRCh37 Chromosome 5, 86629162: 86629162
12 RASA1 NM_002890.2(RASA1): c.899+8A> G single nucleotide variant Uncertain significance rs781285667 GRCh38 Chromosome 5, 87333345: 87333345
13 RASA1 NM_002890.2(RASA1): c.1305T> C (p.Tyr435=) single nucleotide variant Uncertain significance rs778801311 GRCh37 Chromosome 5, 86649025: 86649025
14 RASA1 NM_002890.2(RASA1): c.1305T> C (p.Tyr435=) single nucleotide variant Uncertain significance rs778801311 GRCh38 Chromosome 5, 87353208: 87353208
15 RASA1 NM_002890.2(RASA1): c.2011+4A> C single nucleotide variant Uncertain significance rs886060840 GRCh37 Chromosome 5, 86670737: 86670737
16 RASA1 NM_002890.2(RASA1): c.2011+4A> C single nucleotide variant Uncertain significance rs886060840 GRCh38 Chromosome 5, 87374920: 87374920
17 RASA1 NM_002890.2(RASA1): c.2603C> T (p.Pro868Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs138785106 GRCh37 Chromosome 5, 86675667: 86675667
18 RASA1 NM_002890.2(RASA1): c.2603C> T (p.Pro868Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs138785106 GRCh38 Chromosome 5, 87379850: 87379850
19 RASA1 NM_002890.2(RASA1): c.2691-11C> T single nucleotide variant Likely benign rs149730288 GRCh37 Chromosome 5, 86679519: 86679519
20 RASA1 NM_002890.2(RASA1): c.2691-11C> T single nucleotide variant Likely benign rs149730288 GRCh38 Chromosome 5, 87383702: 87383702
21 RASA1 NM_002890.2(RASA1): c.2926-14C> T single nucleotide variant Uncertain significance rs886060843 GRCh38 Chromosome 5, 87389379: 87389379
22 RASA1 NM_002890.2(RASA1): c.2926-14C> T single nucleotide variant Uncertain significance rs886060843 GRCh37 Chromosome 5, 86685196: 86685196
23 RASA1 NM_002890.2(RASA1): c.*298T> C single nucleotide variant Uncertain significance rs886060846 GRCh38 Chromosome 5, 87391181: 87391181
24 RASA1 NM_002890.2(RASA1): c.*298T> C single nucleotide variant Uncertain significance rs886060846 GRCh37 Chromosome 5, 86686998: 86686998
25 RASA1 NM_002890.2(RASA1): c.*375T> C single nucleotide variant Likely benign rs116868431 GRCh38 Chromosome 5, 87391258: 87391258
26 RASA1 NM_002890.2(RASA1): c.*375T> C single nucleotide variant Likely benign rs116868431 GRCh37 Chromosome 5, 86687075: 86687075
27 RASA1 NM_002890.2(RASA1): c.*818T> C single nucleotide variant Likely benign rs192141756 GRCh38 Chromosome 5, 87391701: 87391701
28 RASA1 NM_002890.2(RASA1): c.*818T> C single nucleotide variant Likely benign rs192141756 GRCh37 Chromosome 5, 86687518: 86687518
29 RASA1 NM_002890.2(RASA1): c.*852A> G single nucleotide variant Likely benign rs182603054 GRCh38 Chromosome 5, 87391735: 87391735
30 RASA1 NM_002890.2(RASA1): c.*852A> G single nucleotide variant Likely benign rs182603054 GRCh37 Chromosome 5, 86687552: 86687552
31 RASA1 NM_002890.2(RASA1): c.-198G> T single nucleotide variant Likely benign rs149279711 GRCh38 Chromosome 5, 87268254: 87268254
32 RASA1 NM_002890.2(RASA1): c.-198G> T single nucleotide variant Likely benign rs149279711 GRCh37 Chromosome 5, 86564071: 86564071
33 RASA1 NM_002890.2(RASA1): c.360C> A (p.Pro120=) single nucleotide variant Benign/Likely benign rs137878395 GRCh37 Chromosome 5, 86564628: 86564628
34 RASA1 NM_002890.2(RASA1): c.360C> A (p.Pro120=) single nucleotide variant Benign/Likely benign rs137878395 GRCh38 Chromosome 5, 87268811: 87268811
35 RASA1 NM_002890.2(RASA1): c.1371G> A (p.Lys457=) single nucleotide variant Benign/Likely benign rs140707293 GRCh37 Chromosome 5, 86658406: 86658406
36 RASA1 NM_002890.2(RASA1): c.1371G> A (p.Lys457=) single nucleotide variant Benign/Likely benign rs140707293 GRCh38 Chromosome 5, 87362589: 87362589
37 RASA1 NM_002890.2(RASA1): c.1494G> A (p.Glu498=) single nucleotide variant Likely benign rs200197533 GRCh37 Chromosome 5, 86659205: 86659205
38 RASA1 NM_002890.2(RASA1): c.1494G> A (p.Glu498=) single nucleotide variant Likely benign rs200197533 GRCh38 Chromosome 5, 87363388: 87363388
39 RASA1 NM_002890.2(RASA1): c.2487+11A> C single nucleotide variant Uncertain significance rs886060842 GRCh37 Chromosome 5, 86674366: 86674366
40 RASA1 NM_002890.2(RASA1): c.2487+11A> C single nucleotide variant Uncertain significance rs886060842 GRCh38 Chromosome 5, 87378549: 87378549
41 RASA1 NM_002890.2(RASA1): c.*736_*738delATT deletion Likely benign rs374889193 GRCh38 Chromosome 5, 87391619: 87391621
42 RASA1 NM_002890.2(RASA1): c.*736_*738delATT deletion Likely benign rs374889193 GRCh37 Chromosome 5, 86687436: 86687438
43 RASA1 NM_002890.2(RASA1): c.-179A> C single nucleotide variant Uncertain significance rs886060838 GRCh38 Chromosome 5, 87268273: 87268273
44 RASA1 NM_002890.2(RASA1): c.-179A> C single nucleotide variant Uncertain significance rs886060838 GRCh37 Chromosome 5, 86564090: 86564090
45 RASA1 NM_002890.2(RASA1): c.209A> G (p.Glu70Gly) single nucleotide variant Benign/Likely benign rs146525982 GRCh38 Chromosome 5, 87268660: 87268660
46 RASA1 NM_002890.2(RASA1): c.209A> G (p.Glu70Gly) single nucleotide variant Benign/Likely benign rs146525982 GRCh37 Chromosome 5, 86564477: 86564477
47 RASA1 NM_002890.2(RASA1): c.351C> T (p.Thr117=) single nucleotide variant Uncertain significance rs763970609 GRCh37 Chromosome 5, 86564619: 86564619
48 RASA1 NM_002890.2(RASA1): c.351C> T (p.Thr117=) single nucleotide variant Uncertain significance rs763970609 GRCh38 Chromosome 5, 87268802: 87268802
49 RASA1 NM_002890.2(RASA1): c.829-12T> A single nucleotide variant Likely benign rs187379673 GRCh37 Chromosome 5, 86629072: 86629072
50 RASA1 NM_002890.2(RASA1): c.829-12T> A single nucleotide variant Likely benign rs187379673 GRCh38 Chromosome 5, 87333255: 87333255

Expression for Parkes Weber Syndrome

Search GEO for disease gene expression data for Parkes Weber Syndrome.

Pathways for Parkes Weber Syndrome

Pathways related to Parkes Weber Syndrome according to KEGG:

38
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010

GO Terms for Parkes Weber Syndrome

Sources for Parkes Weber Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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