PKWS
MCID: PRK003
MIFTS: 41

Parkes Weber Syndrome (PKWS)

Categories: 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 20 43 58 36 29 6 39
Pkws 20 43
Parkes-Weber Syndrome 43

Characteristics:

Orphanet epidemiological data:

58
parkes weber syndrome
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare eye diseases
Rare circulatory system diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Parkes Weber Syndrome

MedlinePlus Genetics : 43 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.Parkes Weber syndrome is characterized by vascular abnormalities known as capillary malformations and arteriovenous fistulas (AVFs), which are present from birth. The capillary malformations increase blood flow near the surface of the skin. They usually look like large, flat, pink stains on the skin, and because of their color are sometimes called "port-wine stains." In people with Parkes Weber syndrome, capillary malformations occur together with multiple micro-AVFs, which are tiny abnormal connections between arteries and veins that affect blood circulation. These AVFs can be associated with life-threatening complications including abnormal bleeding and heart failure.Another characteristic feature of Parkes Weber syndrome is overgrowth of one limb, most commonly a leg. Abnormal growth occurs in bones and soft tissues, making one of the limbs longer and larger around than the corresponding one.Some vascular abnormalities seen in Parkes Weber syndrome are similar to those that occur in a condition called capillary malformation-arteriovenous malformation syndrome (CM-AVM). CM-AVM and some cases of Parkes Weber syndrome have the same genetic cause.

MalaCards based summary : Parkes Weber Syndrome, also known as pkws, is related to capillary malformation-arteriovenous malformation 1 and weber syndrome. An important gene associated with Parkes Weber Syndrome is RASA1 (RAS P21 Protein Activator 1), and among its related pathways/superpathways are MAPK signaling pathway and EPH-Ephrin signaling. Affiliated tissues include heart, eye and spinal cord, and related phenotypes are varicose veins and peripheral arteriovenous fistula

GARD : 20 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.

KEGG : 36 Parkes Weber syndrome (PWS) is characterized by a large cutaneous vascular stain with multiple underlying subcutaneous and intramuscular arteriovenous fistulas (AVF), and overgrowth of the affected extremity. It has been reported that PWS is caused by RASA1 mutations.

Wikipedia : 73 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 46)
# Related Disease Score Top Affiliating Genes
1 capillary malformation-arteriovenous malformation 1 31.5 RASA1 EPHB4 CCNH
2 weber syndrome 30.7 RASA1 EPHB4 CCNH
3 arteriovenous malformation 29.9 RASA1 EPHB4 CCNH
4 klippel-trenaunay-weber syndrome 11.4
5 capillary malformation-arteriovenous malformation 2 11.2
6 overgrowth syndrome 10.6
7 varicose veins 10.3
8 hemangioma 10.3
9 aneurysm 10.3
10 pulmonary hypertension 10.2
11 angiodysplasia 10.2
12 congestive heart failure 10.2
13 femoral agenesis/hypoplasia 10.2
14 lower limb hypertrophy 10.2
15 hemihyperplasia, isolated 10.1
16 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 10.1
17 muscle hypertrophy 10.1
18 gastrointestinal ulceration, recurrent, with dysfunctional platelets 10.1
19 limb ischemia 10.1
20 hereditary lymphedema i 10.1
21 osteomyelitis 10.1
22 disseminated intravascular coagulation 10.1
23 hereditary hemorrhagic telangiectasia 10.1
24 telangiectasis 10.1
25 amenorrhea 10.1
26 poems syndrome 10.1
27 lymphangioma 10.1
28 nodular nonsuppurative panniculitis 10.1
29 panniculitis 10.1
30 renovascular hypertension 10.1
31 heart septal defect 10.1
32 atrial heart septal defect 10.1
33 lipomatosis 10.1
34 ischemia 10.1
35 aortic valve insufficiency 10.1
36 paraplegia 10.1
37 neurofibromatosis 10.1
38 dwarfism 10.1
39 angiomatosis 10.1
40 spasticity 10.1
41 nevus of ota 10.1
42 verrucous hemangioma 10.1
43 congenital arteriovenous fistula 10.1
44 basal cell carcinoma, multiple 9.6 RASA1 CCNH
45 cardiovascular organ benign neoplasm 9.6 RASA1 EPHB4
46 basal cell carcinoma 1 9.5 RASA1 CCNH

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:

58 31 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 varicose veins 58 31 frequent (33%) Frequent (79-30%) HP:0002619
2 peripheral arteriovenous fistula 58 31 frequent (33%) Frequent (79-30%) HP:0100784
3 hemihypertrophy of lower limb 58 31 frequent (33%) Frequent (79-30%) HP:0100553
4 muscle hypertrophy of the lower extremities 58 31 frequent (33%) Frequent (79-30%) HP:0008968
5 venous malformation 58 31 frequent (33%) Frequent (79-30%) HP:0012721
6 high-output congestive heart failure 58 31 frequent (33%) Frequent (79-30%) HP:0001722
7 prominent superficial blood vessels 58 31 frequent (33%) Frequent (79-30%) HP:0007394
8 erythematous plaque 58 31 frequent (33%) Frequent (79-30%) HP:0025474
9 capillary malformation 58 31 frequent (33%) Frequent (79-30%) HP:0025104
10 vascular tortuosity 58 31 frequent (33%) Frequent (79-30%) HP:0004948
11 bounding pulse 58 31 frequent (33%) Frequent (79-30%) HP:0032555
12 vascular dilatation 31 frequent (33%) HP:0002617
13 skin ulcer 58 31 occasional (7.5%) Occasional (29-5%) HP:0200042
14 back pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0003418
15 nephrotic syndrome 58 31 occasional (7.5%) Occasional (29-5%) HP:0000100
16 dural ectasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100775
17 chest pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0100749
18 headache 58 31 occasional (7.5%) Occasional (29-5%) HP:0002315
19 subarachnoid hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0002138
20 urinary retention 58 31 occasional (7.5%) Occasional (29-5%) HP:0000016
21 distal sensory impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002936
22 disseminated intravascular coagulation 58 31 occasional (7.5%) Occasional (29-5%) HP:0005521
23 cerebral arteriovenous malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002408
24 spinal arteriovenous malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002390
25 neck pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0030833
26 myelopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002196
27 scaling skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0040189
28 lower limb pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0012514
29 lower limb muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0007340
30 abnormality of the femoral metaphysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0006489
31 abnormal b-type natriuretic peptide level 58 31 occasional (7.5%) Occasional (29-5%) HP:0031138
32 abnormal lymphatic vessel morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0100766
33 hypertrophy of the upper limb 58 31 occasional (7.5%) Occasional (29-5%) HP:0010484
34 conus terminalis arteriovenous malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0031939
35 hemangiomatosis 58 31 very rare (1%) Very rare (<4-1%) HP:0007461
36 paraplegia 58 31 very rare (1%) Very rare (<4-1%) HP:0010550
37 arteriovenous malformation 58 Very frequent (99-80%)
38 abnormality of the urinary system 58 Occasional (29-5%)
39 abnormal bleeding 58 Occasional (29-5%)
40 abnormality of the upper limb 58 Occasional (29-5%)
41 dilatation 58 Frequent (79-30%)
42 abnormality of the lower limb 58 Very frequent (99-80%)
43 sensory impairment 58 Occasional (29-5%)
44 arteriovenous fistula 58 Frequent (79-30%)
45 pain 58 Occasional (29-5%)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.28 EPHB4
2 Decreased viability GR00221-A-2 9.28 EPHB4
3 Decreased viability GR00221-A-3 9.28 RASA1
4 Decreased viability GR00221-A-4 9.28 EPHB4 RASA1
5 Decreased viability GR00301-A 9.28 EPHB4
6 Decreased viability GR00381-A-1 9.28 RASA1
7 Decreased viability GR00386-A-1 9.28 RASA1
8 Decreased viability GR00402-S-2 9.28 EPHB4

Drugs & Therapeutics for Parkes Weber Syndrome

Search Clinical Trials , 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 29

Anatomical Context for Parkes Weber Syndrome

MalaCards organs/tissues related to Parkes Weber Syndrome:

40
Heart, Eye, Spinal Cord

Publications for Parkes Weber Syndrome

Articles related to Parkes Weber Syndrome:

(show top 50) (show all 161)
# Title Authors PMID Year
1
Computational fluid dynamics modeling aiding surgical planning in a toddler with Parkes Weber syndrome. 61
33747785 2021
2
Parkes-Weber Syndrome and double orifice atrial septal defect as a combined rare cause of severe pulmonary hypertension. 61
33590431 2021
3
Major Limb Amputation in Parkes-Weber Syndrome With Refractory Ulceration: A Case Report and Literature Review. 61
33527869 2021
4
Parkes-Weber syndrome related to RASA1 mosaic mutation. 61
33118152 2021
5
Parkes-Weber Syndrome with Spinal Arteriovenous Fistula in Childhood. 61
33556946 2021
6
Embolization Techniques for Arteriovenous Malformations in Parkes-Weber Syndrome. 61
32479884 2020
7
Major Limb Amputations in Patients with Congenital Vascular Malformations. 61
32439531 2020
8
Parkes Weber syndrome associated with two somatic pathogenic variants in RASA1. 61
32843429 2020
9
Short- and mid-term effects of covered stent implantation on extremity findings and heart failure in Parkes Weber syndrome: a case report. 61
32352073 2020
10
Response to: Parkes Weber syndrome: associated renovascular hypertension? 61
31274166 2020
11
Identification of hypertension, and renal imaging, in Parkes Weber syndrome. 61
31274167 2020
12
Ethanol combined with coil embolisation for the treatment of arteriovenous malformations in a patient with Parkes Weber syndrome. 61
31755731 2020
13
Parkes Weber syndrome. 61
31086946 2019
14
Thrombosis of a Long-Segment Aneurysm from the Iliac to Popliteal Artery Associated with Arteriovenous Malformation and Varicose Veins. 61
31620403 2019
15
Hormonal receptors in cutaneous vascular malformations: 51 cases. 61
30810814 2019
16
Wound-Healing Problems Associated with Combined Vascular Malformations in Klippel-Trenaunay Syndrome. 61
31832274 2019
17
Congenital Limb Overgrowth Syndromes Associated with Vascular Anomalies. 61
30844349 2019
18
Hand Ischemia due to Steal Syndrome Associated with Multiple Arteriovenous Malformations in a Patient with Parkes-Weber Syndrome. 61
30760156 2019
19
Parkes Weber syndrome presenting as Stewart-Bluefarb acroangiodermatitis. 61
30852501 2019
20
An unusual cause of postmenopausal vaginal haemorrhage: a case report. 61
30732650 2019
21
Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation. 61
29891884 2018
22
Giant popliteal vein aneurysm in Parkes-Weber syndrome. 61
29162342 2018
23
Parkes Weber syndrome: a case of right lower limb hypertrophy. 61
26471502 2018
24
Clinical and haemodynamic risk factors associated with discrepancies in lower limb length with capillary malformations: data from the national paediatric French cohort CONAPE. 61
28963775 2018
25
Establishment and characterization of pygmy killer whale (Feresa attenuata) dermal fibroblast cell line. 61
29596530 2018
26
Spinal Arteriovenous Malformation Associated with Parkes Weber Syndrome: Report of Two Cases and Literature Review. 61
28645597 2017
27
Klippel-Trenaunay and Parkes-Weber syndromes: two case reports. 61
29930667 2017
28
Clinical and sonographic features of pediatric soft-tissue vascular anomalies part 2: vascular malformations. 61
28779187 2017
29
Parkes Weber syndrome-Diagnostic and management paradigms: A systematic review. 61
27511883 2017
30
Pulmonary hypertension associated with Parkes-Weber syndrome (a rare congenital arteriovenous malformation). 61
27707981 2017
31
Nodular Proliferation in Parkes Weber Syndrome. 61
27575310 2017
32
A rare case of worsening of Parkes-Weber syndrome with development of POEMS syndrome. 61
27649853 2016
33
Chronic foot ulcer caused by Parkes Weber syndrome. 61
27197605 2016
34
Genetic basis for vascular anomalies. 61
27607321 2016
35
Klippel-Trénaunay Syndrome: Need for Careful Clinical Classification. 61
27492391 2016
36
Combined surgical and endovascular treatment of complex high-flow conus medullaris arteriovenous fistula associated with Parkes Weber syndrome: case report. 61
27015132 2016
37
Unusual Case of Parkes Weber Syndrome with Aneurysm of the Left Common Iliac Vein and Thrombus in Inferior Vena Cava. 61
26122423 2015
38
Imaging evaluation of fetal vascular anomalies. 61
25492302 2015
39
Parkes weber syndrome involving right lower limb: a case report. 61
25972672 2015
40
Successful treatment of a congenital extra-truncal vascular malformation by orally administered propranolol. 61
24359542 2015
41
Parkes-Weber syndrome. 61
25553944 2015
42
Clinical spectrum of capillary malformation-arteriovenous malformation syndrome presenting to a pediatric dermatology practice: a retrospective study. 61
25040287 2015
43
Rat Model of Parkes Weber Syndrome. 61
26217941 2015
44
Images in clinical medicine. Parkes Weber syndrome. 61
25427114 2014
45
Distinctive features of stump volume change in a fresh lower limb amputee with Parkes-Weber syndrome. 61
25336554 2014
46
Giant arteriovenous fistula in Parkes Weber syndrome. 61
24970657 2014
47
Stewart-bluefarb acroangiodermatitis in a case of parkes-weber syndrome. 61
25071266 2014
48
Capillary malformation-arteriovenous malformation: a clinical review of 45 patients. 61
24168113 2014
49
Preliminary study of the genetic diversity of eastern Assamese macaques (Macaca assamensis assamensis) in Thailand based on mitochondrial DNA and microsatellite markers. 61
24142419 2014
50
A new representative of star-shaped fungi: Astraeus sirindhorniae sp. nov. from Thailand. 61
24806455 2014

Variations for Parkes Weber Syndrome

ClinVar genetic disease variations for Parkes Weber Syndrome:

6 (show all 48)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RASA1 , CCNH NM_002890.3(RASA1):c.2011+4A>C SNV Uncertain significance 354521 rs886060840 GRCh37: 5:86670737-86670737
GRCh38: 5:87374920-87374920
2 RASA1 , CCNH NM_002890.3(RASA1):c.*840_*842ATT[1] Microsatellite Uncertain significance 354543 rs201705926 GRCh37: 5:86687540-86687542
GRCh38: 5:87391723-87391725
3 RASA1 , CCNH NM_002890.3(RASA1):c.*298T>C SNV Uncertain significance 354533 rs886060846 GRCh37: 5:86686998-86686998
GRCh38: 5:87391181-87391181
4 RASA1 , CCNH NM_002890.3(RASA1):c.2608T>C (p.Leu870=) SNV Uncertain significance 354526 rs372498033 GRCh37: 5:86676330-86676330
GRCh38: 5:87380513-87380513
5 RASA1 , CCNH NM_002890.3(RASA1):c.1305T>C (p.Tyr435=) SNV Uncertain significance 354515 rs778801311 GRCh37: 5:86649025-86649025
GRCh38: 5:87353208-87353208
6 RASA1 NM_002890.3(RASA1):c.407C>T (p.Pro136Leu) SNV Uncertain significance 354510 rs769463654 GRCh37: 5:86564675-86564675
GRCh38: 5:87268858-87268858
7 RASA1 , CCNH NM_002890.3(RASA1):c.3029G>A (p.Arg1010Gln) SNV Uncertain significance 354529 rs886060844 GRCh37: 5:86685313-86685313
GRCh38: 5:87389496-87389496
8 RASA1 , CCNH NM_002890.3(RASA1):c.899+8A>G SNV Uncertain significance 354513 rs781285667 GRCh37: 5:86629162-86629162
GRCh38: 5:87333345-87333345
9 RASA1 , CCNH NM_002890.3(RASA1):c.*1000_*1004GTTAA[1] Microsatellite Uncertain significance 354545 rs886060850 GRCh37: 5:86687700-86687704
GRCh38: 5:87391883-87391887
10 RASA1 , CCNH NM_002890.3(RASA1):c.*424G>A SNV Uncertain significance 354535 rs191725379 GRCh37: 5:86687124-86687124
GRCh38: 5:87391307-87391307
11 RASA1 , CCNH NM_002890.3(RASA1):c.2926-14C>T SNV Uncertain significance 354528 rs886060843 GRCh37: 5:86685196-86685196
GRCh38: 5:87389379-87389379
12 RASA1 , CCNH NM_002890.3(RASA1):c.*16T>C SNV Uncertain significance 354531 rs770822619 GRCh37: 5:86686716-86686716
GRCh38: 5:87390899-87390899
13 RASA1 , CCNH NM_002890.3(RASA1):c.*572C>A SNV Uncertain significance 354540 rs886060848 GRCh37: 5:86687272-86687272
GRCh38: 5:87391455-87391455
14 RASA1 , CCNH NM_002890.3(RASA1):c.*9G>A SNV Uncertain significance 354530 rs886060845 GRCh37: 5:86686709-86686709
GRCh38: 5:87390892-87390892
15 RASA1 , CCNH NM_002890.3(RASA1):c.2049G>C (p.Gly683=) SNV Uncertain significance 354522 rs886060841 GRCh37: 5:86672247-86672247
GRCh38: 5:87376430-87376430
16 RASA1 NM_002890.3(RASA1):c.248G>A (p.Gly83Glu) SNV Uncertain significance 354506 rs755788420 GRCh37: 5:86564516-86564516
GRCh38: 5:87268699-87268699
17 RASA1 , CCNH NM_002890.3(RASA1):c.2487+11A>C SNV Uncertain significance 354524 rs886060842 GRCh37: 5:86674366-86674366
GRCh38: 5:87378549-87378549
18 RASA1 NM_002890.3(RASA1):c.351C>T (p.Thr117=) SNV Uncertain significance 354508 rs763970609 GRCh37: 5:86564619-86564619
GRCh38: 5:87268802-87268802
19 RASA1 , CCNH NM_002890.3(RASA1):c.*448T>G SNV Uncertain significance 354537 rs886060847 GRCh37: 5:86687148-86687148
GRCh38: 5:87391331-87391331
20 RASA1 NM_002890.3(RASA1):c.-179A>C SNV Uncertain significance 354502 rs886060838 GRCh37: 5:86564090-86564090
GRCh38: 5:87268273-87268273
21 RASA1 NM_002890.3(RASA1):c.209A>G (p.Glu70Gly) SNV Likely benign 354504 rs146525982 GRCh37: 5:86564477-86564477
GRCh38: 5:87268660-87268660
22 RASA1 , CCNH NM_002890.3(RASA1):c.2691-11C>T SNV Likely benign 354527 rs149730288 GRCh37: 5:86679519-86679519
GRCh38: 5:87383702-87383702
23 RASA1 , CCNH NM_002890.3(RASA1):c.1102+10T>C SNV Likely benign 354514 rs150779406 GRCh37: 5:86642551-86642551
GRCh38: 5:87346734-87346734
24 RASA1 NM_002890.3(RASA1):c.360C>A (p.Pro120=) SNV Likely benign 354509 rs137878395 GRCh37: 5:86564628-86564628
GRCh38: 5:87268811-87268811
25 RASA1 , CCNH NM_002890.3(RASA1):c.1371G>A (p.Lys457=) SNV Likely benign 354516 rs140707293 GRCh37: 5:86658406-86658406
GRCh38: 5:87362589-87362589
26 RASA1 NM_002890.3(RASA1):c.260C>G (p.Thr87Arg) SNV Likely benign 354507 rs553059467 GRCh37: 5:86564528-86564528
GRCh38: 5:87268711-87268711
27 RASA1 , CCNH NM_002890.3(RASA1):c.*424G>T SNV Likely benign 354536 rs191725379 GRCh37: 5:86687124-86687124
GRCh38: 5:87391307-87391307
28 RASA1 , CCNH NM_002890.3(RASA1):c.*375T>C SNV Likely benign 354534 rs116868431 GRCh37: 5:86687075-86687075
GRCh38: 5:87391258-87391258
29 RASA1 NM_002890.3(RASA1):c.-198G>T SNV Likely benign 354501 rs149279711 GRCh37: 5:86564071-86564071
GRCh38: 5:87268254-87268254
30 RASA1 , CCNH NM_002890.3(RASA1):c.829-12T>A SNV Likely benign 354512 rs187379673 GRCh37: 5:86629072-86629072
GRCh38: 5:87333255-87333255
31 RASA1 , CCNH NM_002890.3(RASA1):c.1583A>G (p.Tyr528Cys) SNV Likely benign 354519 rs145752649 GRCh37: 5:86659294-86659294
GRCh38: 5:87363477-87363477
32 RASA1 , CCNH NM_002890.3(RASA1):c.2603C>T (p.Pro868Leu) SNV Likely benign 354525 rs138785106 GRCh37: 5:86675667-86675667
GRCh38: 5:87379850-87379850
33 RASA1 , CCNH NM_002890.3(RASA1):c.*97A>G SNV Likely benign 354532 rs115086172 GRCh37: 5:86686797-86686797
GRCh38: 5:87390980-87390980
34 RASA1 , CCNH NM_002890.3(RASA1):c.2528C>A (p.Thr843Asn) SNV Likely benign 239411 rs184201084 GRCh37: 5:86675592-86675592
GRCh38: 5:87379775-87379775
35 RASA1 , CCNH NM_002890.3(RASA1):c.2259C>T (p.Ala753=) SNV Likely benign 354523 rs552498036 GRCh37: 5:86672772-86672772
GRCh38: 5:87376955-87376955
36 RASA1 , CCNH NM_002890.3(RASA1):c.*852A>G SNV Likely benign 354544 rs182603054 GRCh37: 5:86687552-86687552
GRCh38: 5:87391735-87391735
37 RASA1 , CCNH NM_002890.3(RASA1):c.612T>C (p.Tyr204=) SNV Likely benign 354511 rs377014568 GRCh37: 5:86627237-86627237
GRCh38: 5:87331420-87331420
38 RASA1 , CCNH NM_002890.3(RASA1):c.*733_*735ATT[1] Microsatellite Likely benign 354541 rs374889193 GRCh37: 5:86687432-86687434
GRCh38: 5:87391615-87391617
39 RASA1 , CCNH NM_002890.3(RASA1):c.*543A>G SNV Likely benign 354539 rs183575968 GRCh37: 5:86687243-86687243
GRCh38: 5:87391426-87391426
40 RASA1 , CCNH NM_002890.3(RASA1):c.1494G>A (p.Glu498=) SNV Likely benign 354518 rs200197533 GRCh37: 5:86659205-86659205
GRCh38: 5:87363388-87363388
41 RASA1 , CCNH NM_002890.3(RASA1):c.1394G>A (p.Arg465His) SNV Likely benign 354517 rs181630831 GRCh37: 5:86658429-86658429
GRCh38: 5:87362612-87362612
42 RASA1 , CCNH NM_002890.3(RASA1):c.*476T>G SNV Likely benign 354538 rs543819845 GRCh37: 5:86687176-86687176
GRCh38: 5:87391359-87391359
43 RASA1 , CCNH NM_002890.3(RASA1):c.*818T>C SNV Likely benign 354542 rs192141756 GRCh37: 5:86687518-86687518
GRCh38: 5:87391701-87391701
44 RASA1 NM_002890.3(RASA1):c.224G>C (p.Gly75Ala) SNV Likely benign 354505 rs200002693 GRCh37: 5:86564492-86564492
GRCh38: 5:87268675-87268675
45 RASA1 NM_002890.3(RASA1):c.-128_-126GTT[2] Microsatellite Likely benign 354503 rs371042291 GRCh37: 5:86564139-86564141
GRCh38: 5:87268322-87268324
46 RASA1 NM_002890.3(RASA1):c.296C>T (p.Ala99Val) SNV Likely benign 213659 rs111840875 GRCh37: 5:86564564-86564564
GRCh38: 5:87268747-87268747
47 RASA1 , CCNH NM_002890.3(RASA1):c.1777-14T>A SNV Benign 213658 rs36000817 GRCh37: 5:86669966-86669966
GRCh38: 5:87374149-87374149
48 RASA1 , CCNH NM_002890.3(RASA1):c.1777-15_1777-14insA Insertion Benign 354520 rs202147617 GRCh37: 5:86669965-86669966
GRCh38: 5:87374148-87374149

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:

36
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010

Pathways related to Parkes Weber Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.75 RASA1 EPHB4
2
Show member pathways
11.62 RASA1 EPHB4
3
Show member pathways
11.54 RASA1 EPHB4
4 11.22 RASA1 EPHB4
5
Show member pathways
10.17 RASA1 EPHB4

GO Terms for Parkes Weber Syndrome

Biological processes related to Parkes Weber Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ephrin receptor signaling pathway GO:0048013 8.62 RASA1 EPHB4

Sources for Parkes Weber Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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