MWKS
MCID: MRD002
MIFTS: 40

Marden-Walker Syndrome (MWKS)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Marden-Walker Syndrome

MalaCards integrated aliases for Marden-Walker Syndrome:

Name: Marden-Walker Syndrome 57 19 58 75 73 28 5 71
Mws 57 19 73
Mwks 57 73
Connective Tissue Disorder Marden Walker Type 19
Marden Walker Syndrome 38

Characteristics:


Inheritance:

Autosomal recessive 58 , Autosomal dominant 57

Prevelance:

<1/1000000 (Worldwide) 1-9/100000 (Belgium) 58

Age Of Onset:

Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
one patient reported with de novo piezo2 mutation (last curated january 2015)


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Marden-Walker Syndrome

OMIM®: 57 Marden-Walker syndrome is characterized by psychomotor retardation, a mask-like face with blepharophimosis, micrognathia and a high-arched or cleft palate, low-set ears, kyphoscoliosis, and joint contractures. Other features may include Dandy-Walker malformation with hydrocephalus and vertebral abnormalities (summary by Schrander-Stumpel et al., 1993). There are 2 distal arthrogryposis syndromes with features overlapping those of Marden-Walker syndrome that are also caused by heterozygous mutation in PIEZO2: distal arthrogryposis type 3 (DA3, or Gordon syndrome; 114300) and distal arthrogryposis type 5 (DA5; 108145), which are distinguished by the presence of cleft palate and ocular abnormalities, respectively. McMillin et al. (2014) suggested that the 3 disorders may represent variable expressivity of the same condition. (248700) (Updated 08-Dec-2022)

MalaCards based summary: Marden-Walker Syndrome, also known as mws, is related to muckle-wells syndrome and mowat-wilson syndrome, and has symptoms including seizures An important gene associated with Marden-Walker Syndrome is PIEZO2 (Piezo Type Mechanosensitive Ion Channel Component 2). Affiliated tissues include bone, eye and skeletal muscle, and related phenotypes are intellectual disability and failure to thrive

GARD: 19 Marden-Walker syndrome (MWS) is a genetic condition affecting the connective tissue. Features may include distinctive facial features, a cleft or high-arched palate, a small or receding jaw (micrognathia), fixed bone joints (contractures or arthrogryposis), and growth delay. Other symptoms may include a mask-like face with a narrowing of the eye opening (blepharophimosis), low-set ears, failure to thrive, and a generalized slowing down of physical reactions, movements, and speech. The cause of MWS is unknown. A few individuals have been found to have a PIEZO2 gene that is not working correctly. It is likely inherited in an autosomal recessive pattern. This condition is diagnosed by a clinical exam and other medical tests.

UniProtKB/Swiss-Prot: 73 A syndrome characterized by a mask-like face with blepharophimosis, micrognathia, cleft or high-arched palate, low-set ears, congenital joint contractures, kyphoscoliosis, pectus excavatum or carinatum, and arachnodactyly. Additional features include decreased muscular mass, failure to thrive, renal anomalies, hypoplastic corpus callosum, cerebellar vermis hypoplasia, enlarged cisterna magna, and psychomotor retardation.

Orphanet: 58 A rare developmental defect during embryogenesis characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.

Wikipedia: 75 Marden-Walker syndrome (MWS) is a rare autosomal recessive congenital disorder. It is characterized by... more...

Related Diseases for Marden-Walker Syndrome

Diseases related to Marden-Walker Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 74)
# Related Disease Score Top Affiliating Genes
1 muckle-wells syndrome 11.6
2 mowat-wilson syndrome 11.5
3 arthrogryposis, distal, type 3 11.4
4 cryopyrin-associated periodic syndrome 11.4
5 arthrogryposis, distal, type 5 11.3
6 blepharophimosis 10.7
7 contractural arachnodactyly, congenital 10.5
8 cleft palate, isolated 10.5
9 hypotonia 10.5
10 distal arthrogryposis 10.4
11 microcephaly 10.3
12 congenital contractures 10.3
13 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.2
14 corpus callosum, agenesis of 10.2
15 dandy-walker syndrome 10.2
16 schwartz-jampel syndrome, type 1 10.2
17 ptosis 10.2
18 myopathy 10.2
19 talipes equinovarus 10.2
20 wells syndrome 10.1
21 hypertelorism 10.1
22 pectus excavatum 10.1
23 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.1
24 strabismus 10.1
25 volvulus of midgut 10.1
26 adducted thumbs syndrome 10.1
27 fetal akinesia deformation sequence 1 10.1
28 batten-turner congenital myopathy 10.1
29 ehlers-danlos syndrome, musculocontractural type, 1 10.1
30 pseudohypoaldosteronism, type iie 10.1
31 zollinger-ellison syndrome 10.1
32 scoliosis 10.1
33 congenital ptosis 10.1
34 umbilical hernia 10.1
35 congenital fiber-type disproportion 10.1
36 hypospadias 10.1
37 hydrocephalus 10.1
38 myopia 10.1
39 clubfoot 10.1
40 entropion 10.1
41 pyloric stenosis 10.1
42 ehlers-danlos syndrome 10.1
43 heart septal defect 10.1
44 atrial heart septal defect 10.1
45 polyhydramnios 10.1
46 dextrocardia 10.1
47 vesicoureteral reflux 10.1
48 absence of septum pellucidum 10.1
49 colpocephaly 10.1
50 musculocontractural ehlers-danlos syndrome 10.1

Graphical network of the top 20 diseases related to Marden-Walker Syndrome:



Diseases related to Marden-Walker Syndrome

Symptoms & Phenotypes for Marden-Walker Syndrome

Human phenotypes related to Marden-Walker Syndrome:

58 30 (show top 50) (show all 92)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001249
2 failure to thrive 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001508
3 ptosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000508
4 hypotonia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001252
5 global developmental delay 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001263
6 joint stiffness 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001387
7 microcephaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000252
8 skeletal muscle atrophy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003202
9 retrognathia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000278
10 micrognathia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000347
11 low-set ears 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000369
12 specific learning disability 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001328
13 mask-like facies 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000298
14 arachnodactyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001166
15 narrow mouth 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000160
16 blepharophimosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000581
17 radioulnar synostosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002974
18 arthrogryposis multiplex congenita 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002804
19 bifid uvula 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000193
20 feeding difficulties 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011968
21 muscular dystrophy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003560
22 submucous cleft hard palate 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000176
23 posteriorly rotated ears 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000358
24 severe short stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003510
25 short palpebral fissure 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012745
26 aplasia/hypoplasia involving the skeletal musculature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001460
27 scoliosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002650
28 kyphosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002808
29 pectus carinatum 58 30 Frequent (33%) Frequent (79-30%)
HP:0000768
30 attention deficit hyperactivity disorder 58 30 Frequent (33%) Frequent (79-30%)
HP:0007018
31 intrauterine growth retardation 58 30 Frequent (33%) Frequent (79-30%)
HP:0001511
32 pectus excavatum 58 30 Frequent (33%) Frequent (79-30%)
HP:0000767
33 camptodactyly of finger 58 30 Frequent (33%) Frequent (79-30%)
HP:0100490
34 agenesis of corpus callosum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001274
35 hydrocephalus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000238
36 abnormal form of the vertebral bodies 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003312
37 metatarsus adductus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001840
38 hydronephrosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000126
39 talipes 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001883
40 hypospadias 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000047
41 ventricular septal defect 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001629
42 absent septum pellucidum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001331
43 pyloric stenosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002021
44 multicystic kidney dysplasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000003
45 cerebellar hypoplasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001321
46 epispadias 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000039
47 hydroureter 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000072
48 situs inversus totalis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001696
49 renal agenesis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000104
50 renal dysplasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000110

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
agenesis of corpus callosum
hypotonia
dandy-walker malformation
cerebellar hypoplasia
inferior vermis hypoplasia
more
Head And Neck Eyes:
ptosis
hypertelorism
strabismus
microphthalmia
blepharophimosis
more
Genitourinary External Genitalia Male:
inguinal hernia
micropenis
hypospadias

Muscle Soft Tissue:
decreased muscle mass

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Ears:
low-set ears

Skeletal Hands:
arachnodactyly
camptodactyly

Abdomen Gastrointestinal:
pyloric stenosis
zollinger-ellison syndrome
duodenal bands
patent omphalomesenteric duct

Growth Other:
prenatal growth deficiency
postnatal growth deficiency

Respiratory Lung:
hypoplastic lung

Genitourinary Kidneys:
microcystic kidney
hypoplastic kidney

Skeletal Spine:
scoliosis
kyphosis

Head And Neck Neck:
short neck

Head And Neck Head:
microcephaly
large anterior fontanel

Head And Neck Mouth:
cleft palate
small mouth
high arched palate

Head And Neck Face:
micrognathia
long philtrum
fixed facial expression

Skeletal Feet:
talipes equinovarus

Skeletal Limbs:
radioulnar synostosis
congenital joint contractures

Cardiovascular Heart:
dextrocardia

Head And Neck Nose:
upturned nose tip

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum or pectus excavatum
absent clavicle

Clinical features from OMIM®:

248700 (Updated 08-Dec-2022)

UMLS symptoms related to Marden-Walker Syndrome:


seizures

Drugs & Therapeutics for Marden-Walker Syndrome

Search Clinical Trials, NIH Clinical Center for Marden-Walker Syndrome

Genetic Tests for Marden-Walker Syndrome

Genetic tests related to Marden-Walker Syndrome:

# Genetic test Affiliating Genes
1 Marden-Walker Syndrome 28 PIEZO2

Anatomical Context for Marden-Walker Syndrome

Organs/tissues related to Marden-Walker Syndrome:

MalaCards : Bone, Eye, Skeletal Muscle, Kidney, Lung, Heart, Brain

Publications for Marden-Walker Syndrome

Articles related to Marden-Walker Syndrome:

(show top 50) (show all 60)
# Title Authors PMID Year
1
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. 62 57 5
24726473 2014
2
A 2.84 Mb deletion at 21q22.11 in a patient clinically diagnosed with Marden-Walker syndrome. 62 57
23894067 2013
3
Marden-Walker syndrome versus isolated distal arthrogryposis: evidence that both conditions may be variable manifestations of the same mutated gene. 62 57
9727748 1998
4
Marden-Walker syndrome in an adult. 62 57
7551165 1995
5
Renal anomalies in Marden-Walker syndrome: a clue for prenatal diagnosis. 62 57
7677143 1995
6
A case of Marden-Walker syndrome with Dandy-Walker malformation. 62 57
7543036 1995
7
Marden-Walker syndrome: case report, literature review and nosologic discussion. 62 57
8370150 1993
8
Marden-Walker phenotype: spectrum of variability in three infants. 62 57
7679543 1993
9
Early neurological manifestations and brain anomalies in Marden-Walker syndrome. 62 57
1519648 1992
10
Congenital myopathy with oculo-facial abnormalities (Marden-Walker syndrome). 62 57
1877612 1991
11
A 26-month-old child with Marden-Walker syndrome and pyloric stenosis. 62 57
3591834 1987
12
Brief clinical report and review: the Marden-Walker syndrome. 62 57
7081292 1982
13
Two brothers with the Marden-Walker syndrome: case report and review. 62 57
7252998 1981
14
The Marden-Walker syndrome. 62 57
739527 1978
15
Probable Marden-Walker syndrome: evidence for autosomal recessive inheritance. 62 57
1227520 1975
16
Congenital blepharophimosis, joint contractures, and muscular hypotonia. 57
5167313 1971
17
A new generalized connective tissue syndrome. 57
5945535 1966
18
Myotonia, dwarfism, diffuse bone disease and unusual ocular and facial abnormalities (a new syndrome). 57
4953364 1965
19
Lethal respiratory course and additional features expand the phenotypic spectrum of PIEZO2-related distal arthrogryposis type 5. 62
36317804 2022
20
Confirming the involvement of PIEZO2 in the etiology of Marden-Walker syndrome. 62
33369052 2021
21
First transcatheter leadless pacemaker implantation in a pediatric patient with a genetic disease. 62
32372230 2020
22
Distal arthrogryposis type 5 and PIEZO2 novel variant in a Canadian family. 62
30938034 2019
23
Mutations in PIEZO2 contribute to Gordon syndrome, Marden-Walker syndrome and distal arthrogryposis: A bioinformatics analysis of mechanisms. 62
30988732 2019
24
Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects. 62
27974811 2017
25
Familial Gordon syndrome associated with a PIEZO2 mutation. 62
27714920 2017
26
Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis. 62
27843126 2016
27
Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders. 62
27375131 2016
28
Assessment of the MyWellness Key accelerometer in people with type 2 diabetes. 62
26489052 2015
29
Physical and functional evaluation in Marden-Walker syndrome: case report--review of literature. 62
24649842 2014
30
Re-assigned diagnosis of D4ST1-deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome) after initial diagnosis of Marden-Walker syndrome. 62
22987394 2012
31
Unusual manifestation of Marden-Walker syndrome. 62
23162309 2012
32
Congenital hydrocephalus in clinical practice: a genetic diagnostic approach. 62
21839187 2011
33
Novel findings in the Marden-Walker syndrome. 62
21496524 2011
34
The difficult nosology of blepharophimosis-mental retardation syndromes: report on two siblings. 62
21567902 2011
35
[Marden-Walker syndrome--a case report]. 62
19769282 2009
36
Sonographic femur length to trunk cross area ratio: prediction of fetal outcome in 30 cases in which micromelia was suspected. 62
17578350 2007
37
Marden-Walker syndrome with some additional anomalies. 62
15693875 2005
38
Caecal volvulus in the Marden-Walker syndrome: an uncommon association of two rare diseases in a 4-year old child. Case report. 62
15053474 2004
39
van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: clinical delineation and recurrence in brothers. 62
12673658 2003
40
Marden Walker Syndrome. 62
12368539 2002
41
Additional case of Marden-Walker syndrome: support for the autosomal-recessive inheritance adn refinement of phenotype in a surviving patient. 62
11292226 2001
42
[Marden-Walker syndrome]. 62
11528663 2001
43
[Marden-Walker syndrome]. 62
11596443 2001
44
Marden-Walker syndrome: case report, nosologic discussion and aspects of counseling. 62
10893662 2000
45
[Marden-Walker syndrome]. 62
11057127 2000
46
Arthrogryposis multiplex congenita, craniofacial, and ophthalmological abnormalities and normal intelligence: a new syndrome? 62
9286445 1997
47
Marden-Walker phenotype: a diagnostic dilemma. 62
8652086 1996
48
Marden-Walker syndrome in two siblings. 62
7690581 1993
49
Marden-Walker syndrome: a case report and a critical review of the literature. 62
7506965 1993
50
Mental retardation with blepharo-naso-facial abnormalities and hand malformations: a new syndrome? 62
1633641 1992

Variations for Marden-Walker Syndrome

ClinVar genetic disease variations for Marden-Walker Syndrome:

5 (show all 32)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PIEZO2 NM_001378183.1(PIEZO2):c.2170-2A>C SNV Pathogenic
638404 rs1598479779 GRCh37: 18:10787184-10787184
GRCh38: 18:10787186-10787186
2 PIEZO2 NM_001378183.1(PIEZO2):c.8395C>T (p.Arg2799Cys) SNV Pathogenic
137630 rs587777451 GRCh37: 18:10671727-10671727
GRCh38: 18:10671730-10671730
3 PIEZO2 NM_001378183.1(PIEZO2):c.8173A>G (p.Met2725Val) SNV Uncertain Significance
1709333 GRCh37: 18:10672859-10672859
GRCh38: 18:10672862-10672862
4 PIEZO2 NM_001378183.1(PIEZO2):c.605G>T (p.Arg202Leu) SNV Uncertain Significance
493231 rs760374118 GRCh37: 18:10857097-10857097
GRCh38: 18:10857099-10857099
5 PIEZO2 NM_001378183.1(PIEZO2):c.4148C>T (p.Thr1383Met) SNV Uncertain Significance
548506 rs777349822 GRCh37: 18:10752653-10752653
GRCh38: 18:10752655-10752655
6 PIEZO2 NM_001378183.1(PIEZO2):c.3193G>C (p.Asp1065His) SNV Uncertain Significance
1028748 rs752023399 GRCh37: 18:10762554-10762554
GRCh38: 18:10762556-10762556
7 PIEZO2 NM_001378183.1(PIEZO2):c.6164C>T (p.Thr2055Met) SNV Uncertain Significance
638514 rs1005911734 GRCh37: 18:10704486-10704486
GRCh38: 18:10704488-10704488
8 PIEZO2 NM_001378183.1(PIEZO2):c.6475G>C (p.Glu2159Gln) SNV Uncertain Significance
436313 rs200276831 GRCh37: 18:10699142-10699142
GRCh38: 18:10699144-10699144
9 PIEZO2 NM_001378183.1(PIEZO2):c.2305C>T (p.Leu769=) SNV Benign
261503 rs6505592 GRCh37: 18:10787047-10787047
GRCh38: 18:10787049-10787049
10 PIEZO2 NM_001378183.1(PIEZO2):c.3036A>G (p.Thr1012=) SNV Benign
261504 rs7227167 GRCh37: 18:10763007-10763007
GRCh38: 18:10763009-10763009
11 PIEZO2 NM_001378183.1(PIEZO2):c.3081C>T (p.Leu1027=) SNV Benign
261505 rs7241380 GRCh37: 18:10762962-10762962
GRCh38: 18:10762964-10762964
12 PIEZO2 NM_001378183.1(PIEZO2):c.3867C>T (p.Asn1289=) SNV Benign
261507 rs7407105 GRCh37: 18:10758023-10758023
GRCh38: 18:10758025-10758025
13 PIEZO2 NM_001378183.1(PIEZO2):c.4135G>A (p.Val1379Ile) SNV Benign
261508 rs7234309 GRCh37: 18:10752666-10752666
GRCh38: 18:10752668-10752668
14 PIEZO2 NM_001378183.1(PIEZO2):c.4290T>A (p.Leu1430=) SNV Benign
261509 rs8096037 GRCh37: 18:10748603-10748603
GRCh38: 18:10748605-10748605
15 PIEZO2 NM_001378183.1(PIEZO2):c.4708+18C>T SNV Benign
261510 rs5024299 GRCh37: 18:10741011-10741011
GRCh38: 18:10741013-10741013
16 PIEZO2 NM_001378183.1(PIEZO2):c.5589C>T (p.Ser1863=) SNV Benign
261514 rs7227022 GRCh37: 18:10705744-10705744
GRCh38: 18:10705746-10705746
17 PIEZO2 NM_001378183.1(PIEZO2):c.6031G>C (p.Glu2011Gln) SNV Benign
261519 rs4796901 GRCh37: 18:10704619-10704619
GRCh38: 18:10704621-10704621
18 PIEZO2 NM_001378183.1(PIEZO2):c.7035G>A (p.Pro2345=) SNV Benign
261525 rs2277860 GRCh37: 18:10696227-10696227
GRCh38: 18:10696229-10696229
19 PIEZO2 NM_001378183.1(PIEZO2):c.7215C>T (p.Ala2405=) SNV Benign
261526 rs3748421 GRCh37: 18:10691357-10691357
GRCh38: 18:10691359-10691359
20 PIEZO2 NM_001378183.1(PIEZO2):c.7349+7C>T SNV Benign
261527 rs3748422 GRCh37: 18:10691216-10691216
GRCh38: 18:10691218-10691218
21 PIEZO2 NM_001378183.1(PIEZO2):c.7953-9del DEL Benign
1262523 GRCh37: 18:10677881-10677881
GRCh38: 18:10677884-10677884
22 PIEZO2 NM_001378183.1(PIEZO2):c.2170-19_2170-18del DEL Benign
1265456 GRCh37: 18:10787200-10787201
GRCh38: 18:10787202-10787203
23 PIEZO2 NM_001378183.1(PIEZO2):c.7190+29A>G SNV Benign
1174356 GRCh37: 18:10696043-10696043
GRCh38: 18:10696045-10696045
24 PIEZO2 NM_001378183.1(PIEZO2):c.3451-28T>C SNV Benign
1225365 GRCh37: 18:10759935-10759935
GRCh38: 18:10759937-10759937
25 PIEZO2 NM_001378183.1(PIEZO2):c.6976-47G>C SNV Benign
1227589 GRCh37: 18:10696333-10696333
GRCh38: 18:10696335-10696335
26 PIEZO2 NM_001378183.1(PIEZO2):c.2492+48del DEL Benign
1234420 GRCh37: 18:10784734-10784734
GRCh38: 18:10784736-10784736
27 PIEZO2 NM_001378183.1(PIEZO2):c.7349+31A>C SNV Benign
1238401 GRCh37: 18:10691192-10691192
GRCh38: 18:10691194-10691194
28 PIEZO2 NM_001378183.1(PIEZO2):c.2947-36G>A SNV Benign
1249835 GRCh37: 18:10763132-10763132
GRCh38: 18:10763134-10763134
29 PIEZO2 NM_001378183.1(PIEZO2):c.1528-41T>C SNV Benign
1252129 GRCh37: 18:10795041-10795041
GRCh38: 18:10795043-10795043
30 PIEZO2 NM_001378183.1(PIEZO2):c.1379-47T>C SNV Benign
1281152 GRCh37: 18:10797567-10797567
GRCh38: 18:10797569-10797569
31 PIEZO2 NM_001378183.1(PIEZO2):c.7952+33C>T SNV Benign
1282729 GRCh37: 18:10680163-10680163
GRCh38: 18:10680166-10680166
32 PIEZO2 NM_001378183.1(PIEZO2):c.4514+32C>T SNV Benign
1282852 GRCh37: 18:10744108-10744108
GRCh38: 18:10744110-10744110

UniProtKB/Swiss-Prot genetic disease variations for Marden-Walker Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 PIEZO2 p.Arg2686Cys VAR_071302 rs587777451

Expression for Marden-Walker Syndrome

Search GEO for disease gene expression data for Marden-Walker Syndrome.

Pathways for Marden-Walker Syndrome

GO Terms for Marden-Walker Syndrome

Sources for Marden-Walker Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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