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MWKS
MCID: MRD002
MIFTS: 56

Marden-Walker Syndrome (MWKS)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Marden-Walker Syndrome

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MalaCards integrated aliases for Marden-Walker Syndrome:

Name: Marden-Walker Syndrome 57 73 20 58 72 29 6 70
Mws 57 20 72
Mwks 57 72
Connective Tissue Disorder Marden Walker Type 20
Syndrome, Marden Walker 39
Arachnodactyly 44

Characteristics:

Orphanet epidemiological data:

58
marden-walker syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide),1-9/100000 (Belgium); Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
one patient reported with de novo piezo2 mutation (last curated january 2015)


HPO:

31
marden-walker syndrome:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Nephrological diseases Ear diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Marden-Walker Syndrome

About this section
GARD : 20 Marden-Walker syndrome (MWS) is a genetic condition affecting the connective tissue. MWS is very rare and information about this condition is based on less than 50 people. 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. Treatment is based on managing the symptoms.

MalaCards based summary : Marden-Walker Syndrome, also known as mws, is related to contractural arachnodactyly, congenital and arthrogryposis, distal, type 5, and has symptoms including seizures An important gene associated with Marden-Walker Syndrome is PIEZO2 (Piezo Type Mechanosensitive Ion Channel Component 2), and among its related pathways/superpathways are Degradation of the extracellular matrix and Elastic fibre formation. The drugs Atenolol and Perindopril have been mentioned in the context of this disorder. Affiliated tissues include eye, thymus and kidney, and related phenotypes are intellectual disability and failure to thrive

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 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Marden-Walker syndrome: 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.

Wikipedia : 73 Marden-Walker syndrome (MWS) is a rare autosomal recessive congenital disorder. It is characterized by... more...

Sources

Related Diseases for Marden-Walker Syndrome

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

(show top 50) (show all 214)
# Related Disease Score Top Affiliating Genes
1 contractural arachnodactyly, congenital 32.8 FBN2 FBN1
2 arthrogryposis, distal, type 5 31.9 PIEZO2 FBN2
3 marfan syndrome 31.6 FBN2 FBN1
4 isolated ectopia lentis 30.5 FBN2 FBN1
5 distal arthrogryposis 30.3 PIEZO2 FBN2 FBN1
6 orthostatic intolerance 30.1 FBN2 FBN1
7 aortic aneurysm 29.9 FBN2 FBN1
8 aneurysm 29.9 FBN2 FBN1
9 hypermobile ehlers-danlos syndrome 29.7 FBN1 EFEMP1
10 aortic valve insufficiency 29.7 FBN2 FBN1
11 strabismus 29.5 PIEZO2 FBN2 CHN1
12 stickler syndrome 29.5 FBN2 FBN1
13 loeys-dietz syndrome 29.5 FBN2 FBN1
14 scoliosis 29.5 PIEZO2 FBN2 FBN1 EFEMP1
15 muckle-wells syndrome 11.6
16 mowat-wilson syndrome 11.5
17 van den ende-gupta syndrome 11.5
18 shprintzen-goldberg craniosynostosis syndrome 11.4
19 arachnodactyly - intellectual disability - dysmorphism 11.3
20 arthrogryposis, distal, type 3 11.3
21 achard syndrome 11.2
22 haim-munk syndrome 11.2
23 van benthem-driessen-hanveld syndrome 11.1
24 scoliosis, arachnodactyly, and blindness 11.1
25 al-gazali syndrome 11.0
26 cutis laxa, autosomal recessive, type ib 11.0
27 autosomal recessive cutis laxa type i 11.0
28 arterial tortuosity syndrome 11.0
29 galloway-mowat syndrome 2, x-linked 11.0
30 marfanoid-progeroid-lipodystrophy syndrome 11.0
31 galloway-mowat syndrome 3 11.0
32 galloway-mowat syndrome 4 11.0
33 galloway-mowat syndrome 5 11.0
34 tolchin-le caignec syndrome 11.0
35 cryopyrin-associated periodic syndrome 11.0
36 jaffer beighton syndrome 10.9
37 vagneur triolle ripert syndrome 10.9
38 arachnodactyly-abnormal ossification-intellectual disability syndrome 10.9
39 marfanoid hypermobility syndrome 10.8
40 antley-bixler syndrome without genital anomalies or disordered steroidogenesis 10.8
41 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 10.8
42 galloway-mowat syndrome 1 10.8
43 multiple pterygium syndrome, escobar variant 10.8
44 bazex syndrome 10.8
45 harrod syndrome 10.8
46 glass syndrome 10.8
47 sotos syndrome 2 10.8
48 loeys-dietz syndrome 4 10.8
49 epiphyseal chondrodysplasia, miura type 10.8
50 galloway-mowat syndrome 6 10.8

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



Diseases related to Marden-Walker Syndrome
Sources

Symptoms & Phenotypes for Marden-Walker Syndrome

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Human phenotypes related to Marden-Walker Syndrome:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
agenesis of corpus callosum
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 05-Apr-2021)

UMLS symptoms related to Marden-Walker Syndrome:


seizures

MGI Mouse Phenotypes related to Marden-Walker Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 CHN1 EFEMP1 FBN1 FBN2 PIEZO2 WFS1
2 growth/size/body region MP:0005378 9.73 CHN1 EFEMP1 FBN1 FBN2 PIEZO2 WFS1
3 adipose tissue MP:0005375 9.67 CHN1 EFEMP1 FBN1 FBN2
4 integument MP:0010771 9.55 EFEMP1 FBN1 FBN2 PIEZO2 WFS1
5 mortality/aging MP:0010768 9.43 CHN1 EFEMP1 FBN1 FBN2 PIEZO2 WFS1
6 muscle MP:0005369 8.92 CHN1 EFEMP1 FBN1 FBN2
Sources

Drugs & Therapeutics for Marden-Walker Syndrome

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Drugs for Marden-Walker Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 88)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Atenolol Approved Phase 4 29122-68-7 2249
2
Perindopril Approved Phase 4 107133-36-8, 82834-16-0 107807
3
Verapamil Approved Phase 4 52-53-9 2520
4
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
5
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
6
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
7
Fluoxetine Approved, Vet_approved Phase 4 54910-89-3 3386
8 Adrenergic Antagonists Phase 4
9 Adrenergic beta-Antagonists Phase 4
10 Adrenergic Agents Phase 4
11 Sympatholytics Phase 4
12 Adrenergic beta-1 Receptor Antagonists Phase 4
13 Angiotensin-Converting Enzyme Inhibitors Phase 4
14
protease inhibitors Phase 4
15 HIV Protease Inhibitors Phase 4
16 Hormones Phase 4
17 Calcium, Dietary Phase 4
18 Vasodilator Agents Phase 4
19 calcium channel blockers Phase 4
20 Dopamine Agents Phase 4
21 Psychotropic Drugs Phase 4
22 Neurotransmitter Agents Phase 4
23 Dopamine Antagonists Phase 4
24 Antipsychotic Agents Phase 4
25 Central Nervous System Stimulants Phase 4
26 Dopamine Uptake Inhibitors Phase 4
27
Calcium Nutraceutical Phase 4 7440-70-2 271
28
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
29
Nebivolol Approved, Investigational Phase 3 152520-56-4, 118457-14-0, 99200-09-6 71301
30
Angiotensin II Approved, Investigational Phase 3 68521-88-0, 11128-99-7, 4474-91-3 172198
31 Adrenergic Agonists Phase 3
32 Adrenergic beta-Agonists Phase 3
33 Anti-Arrhythmia Agents Phase 3
34 Giapreza Phase 3
35 Antihypertensive Agents Phase 3
36 Angiotensinogen Phase 3
37 Angiotensin Receptor Antagonists Phase 3
38 Angiotensin II Type 1 Receptor Blockers Phase 3
39
Irbesartan Approved, Investigational Phase 2 138402-11-6 3749
40
Doxycycline Approved, Investigational, Vet_approved Phase 2 564-25-0 54671203
41
Propranolol Approved, Investigational Phase 2 525-66-6 4946
42
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
43
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
44
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 6473866 445643 439492
45
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
46
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5
47
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
48
Mycophenolic acid Approved Phase 1, Phase 2 24280-93-1 446541
49
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
50
Prednisolone acetate Approved, Vet_approved Phase 1, Phase 2 52-21-1

Interventional clinical trials:

(show top 50) (show all 57)
# Name Status NCT ID Phase Drugs
1 Effects of Atenolol, Perindopril and Verapamil on Haemodynamic and Vascular Function in Marfan Syndrome - A Randomised Double-Blind Crossover Trial Completed NCT01295047 Phase 4 Atenolol;VERAPAMIL;Perindopril
2 The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome (VCFS), Williams Syndrome (WS)and Fragile X Syndrome Characterization, Treatment and Examining the Connection to Developmental and Molecular Factors Recruiting NCT00768820 Phase 4 methylphenidate, fluoxetin, risperidone
3 A Clinical Trial to Assess the Efficacy and Safety of Losartan Versus Atenolol in the Prevention of Progressive Dilation of the Aorta in Patients With Marfan Syndrome. Unknown status NCT01145612 Phase 3 Losartan;Atenolol
4 Randomized, Double-blind Study for the Evaluation of the Effect of Losartan Versus Placebo on Aortic Root Dilatation in Patients With Marfan Syndrome Under Treatment With Beta-blockers Unknown status NCT00782327 Phase 3 Losartan;Placebo
5 Effects of Losartan vs. Nebivolol vs. the Association of Both on the Progression of Aortic Root Dilation in Marfan Syndrome (MFS) With FBN1 Gene Mutations. Unknown status NCT00683124 Phase 3 Losartan and nebivolol;Losartan;Nebivolol
6 The Effect of an Angiotensin Converting Enzyme Inhibitor on Aortic Wall Properties in Patients With Marfan Syndrome. Completed NCT00485368 Phase 3 Coversyl (perindopril)
7 Trial of Beta Blocker Therapy (Atenolol) Versus Angiotensin II Receptor Blocker Therapy (Losartan) in Individuals With Marfan Syndrome (A Trial Conducted by the Pediatric Heart Network) Completed NCT00429364 Phase 3 Losartan Potassium;Atenolol
8 Comparison Study of the Effect of Aliskiren Versus Negative Controls on Aortic Stiffness in Patients With Marfan Syndrome Under Treatment With Atenolol Completed NCT01715207 Phase 3 Aliskiren;Atenolol
9 Effects of Losartan vs Atenolol on Aortic Stiffness and Diastolic Function in Adults With Marfan Syndrome Completed NCT00723801 Phase 3 Atenolol;Losartan
10 Multicenter, Randomised, Double Blind Study of the Efficacy of Losartan on Aortic Dilatation in Patients With Marfan Syndrome Terminated NCT00763893 Phase 3 placebo;Losartan
11 Circulating Transforming Growth Factor Beta (TGF-β) in Individuals With Withdrawn NCT01361087 Phase 3
12 A Randomised, Double-blind, Placebo-controlled Pilot Trial of Irbesartan, Doxycycline and a Combination on Markers of Vascular Dysfunction in the Marfan Syndrome, Using Cardiovascular Magnetic Resonance Imaging Unknown status NCT01949233 Phase 2 Irbesartan 150-300mg capsules daily for 6 months;Doxycycline 100-200mg capsules daily for 6 months;Doxycycline placebo capsules daily for 6 months;Irbesartan placebo capsules daily for 6 months
13 A Randomized, Open-label, Active Control Trial to Evaluate the Effect of LOSARTAN Therapy on the Progression of Aortic Root Dilation in Patients With Marfan Syndrome Unknown status NCT00651235 Phase 2 Losartan and Atenolol or Propranolol;Atenolol or Propranolol
14 Phase II Study of Thymus Transplantation in Complete DiGeorge Syndrome #668 Completed NCT00576407 Phase 2
15 A Randomized Double-blind Study Assessing the Effects of Losartan Versus Atenolol on Pulse Wave Velocity and the Biophysical Properties of the Aorta in Patients With Marfan Syndrome Completed NCT00593710 Phase 2 Losartan;Atenolol
16 Phase I/II Trial of Thymus Transplantation With Immunosuppression, #950 Completed NCT00579527 Phase 1, Phase 2 Rabbit anti-thymocyte globulin;Cyclosporine;Tacrolimus;Methylprednisolone or Prednisolone;Daclizumab;Mycophenolate mofetil
17 Dose Study of Thymus Transplantation in DiGeorge Anomaly, IND 9836, #932.1 Completed NCT00576836 Phase 2
18 Parathyroid and Thymus Transplantation in DiGeorge Syndrome, #931 Completed NCT00566488 Phase 1
19 Thymus Transplantation With Immunosuppression, #884 Completed NCT00579709 Phase 1
20 A 5-Week, Multi-center, Open-label Study to Assess the Safety and Efficacy of NFC-1 in Subjects Aged 12-17 Years With 22q11.2 Deletion Syndrome and Commonly Associated Neuropsychiatric Conditions (Anxiety, ADHD, ASD) Completed NCT02895906 Phase 1 NFC-1
21 The Diabetes Aerobic and Resistance Bands Exercise (DARE-Bands) Trial Unknown status NCT02009995
22 Generation of Marfan Syndrome and Fontan Cardiovascular Models Using Patient-specific Induced Pluripotent Stem Cells Unknown status NCT02815072
23 Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome Unknown status NCT00005102
24 Development of a Blood Test for Marfan Syndrome Unknown status NCT02148900
25 A Remediation Program for Children at High-Risk of Schizophrenia: 22q11.2 Deletion Syndrome Completed NCT01781923
26 Aortopathy in Persons With Bicuspid Aortic Valve, Turner and Marfan Syndrome Completed NCT01760668
27 Clinical and Molecular Manifestations of Heritable Disorders of Connective Tissue Completed NCT00270686
28 Tele-Clinic Visits in Pediatric Marfan Patients Using Parental Echo: The Future? Completed NCT03581682
29 Clinical and Molecular Manifestations of Heritable Connective Tissue Disorders Completed NCT00001641
30 Children and Adolescents With Marfan Syndrome: 10,000 Healthy Steps and Beyond Completed NCT03567460
31 Sleep Disordered Breathing in Marfan Syndrome: Susceptibility and Hemodynamics Completed NCT03985657
32 Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome Completed NCT02460328
33 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
34 Middle and Inner Ear Malformation in Children With Velocardiofacial Syndrome Completed NCT00784173
35 Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes Completed NCT02213484
36 Classifying Ectopia Lentis in Marfan Syndrome Into Five Grades of Increasing Severity Completed NCT04319107
37 Thoracic Aortic Dilatation Syndromes - Diagnostic, Incidences, Morbidity, Mortality and Socioeconomical Observations. Completed NCT02111668
38 Computer-Based Cognitive Remediation in Adolescents With VCFS Completed NCT00917189
39 Correlations' Study Between Variability of Expression in FBN1 Gene and Clinical Features in Marfan Patients. Completed NCT01707563
40 Effects of Modulation of the Dopaminergic System Using Risperidone on Memory and Executive Processes in Individuals With 22q11.2 Deletion Syndrome Recruiting NCT04639960 Risperdal;Placebo
41 Effects of Modulation of the Dopaminergic System Using Methylphenidate on Memory and Executive Processes in Individuals With 22q11.2 Deletion Syndrome Recruiting NCT04647500 Concerta
42 Evaluating the Effects of Moderate Physical Activity on Health and Well-being in Adolescents and Young Adults With Marfan Syndrome Recruiting NCT04641325
43 Genetic Modifiers of 22q11.2 Deletion Syndrome Recruiting NCT00556530
44 Cardiorespiratory and Muscular Rehabilitation of Children and Young Adults With Marfan Syndrome: an Interventional, Prospective, Monocentric Study. Recruiting NCT03236571
45 Complex Aortic Aneurysm Repair Using Physician Modified Endografts and Custom Made Devices Recruiting NCT02050113
46 Evaluation of the Effects of Personalized Training at Home Combining Endurance and Resistance in Patients Suffering From Marfan Syndrome Recruiting NCT04553094
47 Pathogenetic Basis of Aortopathy and Aortic Valve Disease Recruiting NCT03440697
48 Study of Arithmetic Abilities of Children With 22q11.2 Deletion Syndrome Aged From 4 to 11 Years Old Recruiting NCT04373226
49 Effect on the Quality of Life of a Therapeutic Education Program in Patients With Marfan Syndrome: an Observational, Prospective and Multicenter Study Active, not recruiting NCT04731493
50 Safety and Efficacy of Thymus Transplantation in Complete DiGeorge Anomaly, IND#9836 Available NCT01220531 Rabbit anti-thymocyte globulin;Cyclosporine;Tacrolimus;Methylprednisolone or Prednisolone;Basiliximab;Mycophenolate mofetil

Search NIH Clinical Center for Marden-Walker Syndrome

Cochrane evidence based reviews: arachnodactyly

Sources

Genetic Tests for Marden-Walker Syndrome

About this section

Genetic tests related to Marden-Walker Syndrome:

# Genetic test Affiliating Genes
1 Marden-Walker Syndrome 29 PIEZO2
Sources

Anatomical Context for Marden-Walker Syndrome

About this section

MalaCards organs/tissues related to Marden-Walker Syndrome:

40
Eye, Thymus, Kidney, Skeletal Muscle, Heart, Liver, Lung
Sources

Publications for Marden-Walker Syndrome

About this section

Articles related to Marden-Walker Syndrome:

(show top 50) (show all 87)
# Title Authors PMID Year
1
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. 6 57 61
24726473 2014
2
A 2.84 Mb deletion at 21q22.11 in a patient clinically diagnosed with Marden-Walker syndrome. 61 57
23894067 2013
3
Marden-Walker syndrome versus isolated distal arthrogryposis: evidence that both conditions may be variable manifestations of the same mutated gene. 61 57
9727748 1998
4
Renal anomalies in Marden-Walker syndrome: a clue for prenatal diagnosis. 61 57
7677143 1995
5
Marden-Walker syndrome in an adult. 61 57
7551165 1995
6
A case of Marden-Walker syndrome with Dandy-Walker malformation. 57 61
7543036 1995
7
Marden-Walker syndrome: case report, literature review and nosologic discussion. 57 61
8370150 1993
8
Marden-Walker phenotype: spectrum of variability in three infants. 61 57
7679543 1993
9
Early neurological manifestations and brain anomalies in Marden-Walker syndrome. 61 57
1519648 1992
10
Congenital myopathy with oculo-facial abnormalities (Marden-Walker syndrome). 57 61
1877612 1991
11
A 26-month-old child with Marden-Walker syndrome and pyloric stenosis. 57 61
3591834 1987
12
Brief clinical report and review: the Marden-Walker syndrome. 61 57
7081292 1982
13
Two brothers with the Marden-Walker syndrome: case report and review. 61 57
7252998 1981
14
The Marden-Walker syndrome. 61 57
739527 1978
15
Probable Marden-Walker syndrome: evidence for autosomal recessive inheritance. 61 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
Confirming the involvement of PIEZO2 in the etiology of Marden-Walker syndrome. 61
33369052 2021
20
First transcatheter leadless pacemaker implantation in a pediatric patient with a genetic disease. 61
32372230 2020
21
Distal arthrogryposis type 5 and PIEZO2 novel variant in a Canadian family. 61
30938034 2019
22
Mutations in PIEZO2 contribute to Gordon syndrome, Marden-Walker syndrome and distal arthrogryposis: A bioinformatics analysis of mechanisms. 61
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Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects. 61
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Familial Gordon syndrome associated with a PIEZO2 mutation. 61
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Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis. 61
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Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders. 61
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Assessment of the MyWellness Key accelerometer in people with type 2 diabetes. 61
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Physical and functional evaluation in Marden-Walker syndrome: case report--review of literature. 61
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Re-assigned diagnosis of D4ST1-deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome) after initial diagnosis of Marden-Walker syndrome. 61
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Unusual manifestation of Marden-Walker syndrome. 61
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Congenital hydrocephalus in clinical practice: a genetic diagnostic approach. 61
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Novel findings in the Marden-Walker syndrome. 61
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The difficult nosology of blepharophimosis-mental retardation syndromes: report on two siblings. 61
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ENU mutagenesis reveals a novel phenotype of reduced limb strength in mice lacking fibrillin 2. 54
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[Marden-Walker syndrome--a case report]. 61
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A novel mutation (C1425Y) in the FBN2 gene in a father and son with congenital contractural arachnodactyly. 54
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The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations. 54
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Sonographic femur length to trunk cross area ratio: prediction of fetal outcome in 30 cases in which micromelia was suspected. 61
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FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly. 54
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Xenopus fibrillin regulates directed convergence and extension. 54
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Long-term survival in a child with severe congenital contractural arachnodactyly, autism and severe intellectual disability. 54
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Marden-Walker syndrome with some additional anomalies. 61
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Orofacial manifestations of congenital fibrillin deficiency: pathogenesis and clinical diagnostics. 54
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Determination of the molecular basis of Marfan syndrome: a growth industry. 54
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FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly. 54
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Ectopia lentis phenotypes and the FBN1 gene. 54
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Caecal volvulus in the Marden-Walker syndrome: an uncommon association of two rare diseases in a 4-year old child. Case report. 61
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van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: clinical delineation and recurrence in brothers. 61
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Homo- and heterotypic fibrillin-1 and -2 interactions constitute the basis for the assembly of microfibrils. 54
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Fibrillin-1 and fibrillin-2 in human embryonic and early fetal development. 54
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Sources

Variations for Marden-Walker Syndrome

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ClinVar genetic disease variations for Marden-Walker Syndrome:

6 (show all 17)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PIEZO2 NM_022068.3(PIEZO2):c.8056C>T (p.Arg2686Cys) SNV Pathogenic 137630 rs587777451 GRCh37: 18:10671727-10671727
GRCh38: 18:10671730-10671730
2 PIEZO2 NM_022068.3(PIEZO2):c.2170-2A>C SNV Pathogenic 638404 rs1598479779 GRCh37: 18:10787184-10787184
GRCh38: 18:10787186-10787186
3 WFS1 NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter) SNV Pathogenic 598973 rs771409809 GRCh37: 4:6303521-6303521
GRCh38: 4:6301794-6301794
4 FBN1 NM_000138.5(FBN1):c.5788+5G>A SNV Pathogenic 42394 rs193922219 GRCh37: 15:48738898-48738898
GRCh38: 15:48446701-48446701
5 FBN1 NM_000138.5(FBN1):c.364C>T SNV Pathogenic 16440 rs137854467 GRCh37: 15:48892414-48892414
GRCh38: 15:48600217-48600217
6 EFEMP1 NM_001039348.3(EFEMP1):c.615T>A (p.Tyr205Ter) SNV Pathogenic 691885 rs765517862 GRCh37: 2:56108772-56108772
GRCh38: 2:55881637-55881637
7 EFEMP1 NM_001039348.3(EFEMP1):c.320_324del (p.Met107fs) Deletion Pathogenic 691884 rs1572850869 GRCh37: 2:56144993-56144997
GRCh38: 2:55917858-55917862
8 CHN1 NM_001822.7(CHN1):c.667G>A (p.Ala223Thr) SNV Likely pathogenic 598971 rs1558939623 GRCh37: 2:175689207-175689207
GRCh38: 2:174824479-174824479
9 KIF1A NM_001244008.1(KIF1A):c.3052C>T (p.His1018Tyr) SNV Uncertain significance 598972 rs1356639316 GRCh37: 2:241686664-241686664
GRCh38: 2:240747247-240747247
10 PIEZO2 NM_001378183.1(PIEZO2):c.3193G>C (p.Asp1065His) SNV Uncertain significance 1028748 GRCh37: 18:10762554-10762554
GRCh38: 18:10762556-10762556
11 PIEZO2 NM_022068.3(PIEZO2):c.605G>T (p.Arg202Leu) SNV Uncertain significance 493231 rs760374118 GRCh37: 18:10857097-10857097
GRCh38: 18:10857099-10857099
12 NSDHL NM_015922.3(NSDHL):c.1054C>G (p.Leu352Val) SNV Uncertain significance 373975 rs142351862 GRCh37: X:152037592-152037592
GRCh38: X:152869048-152869048
13 PIEZO2 NM_022068.3(PIEZO2):c.5825C>T (p.Thr1942Met) SNV Uncertain significance 638514 rs1005911734 GRCh37: 18:10704486-10704486
GRCh38: 18:10704488-10704488
14 FBN1 NM_000138.4(FBN1):c.139G>A (p.Gly47Ser) SNV Uncertain significance 200029 rs762400500 GRCh37: 15:48936828-48936828
GRCh38: 15:48644631-48644631
15 KAT6B NM_012330.4(KAT6B):c.3154_3169del (p.Arg1052fs) Deletion Uncertain significance 374242 rs1057519003 GRCh37: 10:76781771-76781786
GRCh38: 10:75022013-75022028
16 PIEZO2 NM_022068.3(PIEZO2):c.4073C>T (p.Thr1358Met) SNV Uncertain significance 548506 rs777349822 GRCh37: 18:10752653-10752653
GRCh38: 18:10752655-10752655
17 PIEZO2 NM_022068.3(PIEZO2):c.6136G>C (p.Glu2046Gln) SNV Uncertain significance 436313 rs200276831 GRCh37: 18:10699142-10699142
GRCh38: 18:10699144-10699144

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

72
# Symbol AA change Variation ID SNP ID
1 PIEZO2 p.Arg2686Cys VAR_071302 rs587777451

Sources

Expression for Marden-Walker Syndrome

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

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Pathways related to Marden-Walker Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Degradation of the extracellular matrix 65
Show member pathways
 11.99 FBN2 FBN1 EFEMP1
2
Elastic fibre formation 65
Show member pathways
 10.66 FBN2 FBN1 EFEMP1
3
Hypothesized Pathways in Pathogenesis of Cardiovascular Disease 1
10.35 FBN2 FBN1
4
G-protein signaling_Rap2B regulation pathway 23
10.34 FBN2 FBN1 EFEMP1
Sources

GO Terms for Marden-Walker Syndrome

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Cellular components related to Marden-Walker Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.33 FBN2 FBN1 EFEMP1
2 extracellular matrix GO:0031012 9.13 FBN2 FBN1 EFEMP1
3 microfibril GO:0001527 8.62 FBN2 FBN1

Biological processes related to Marden-Walker Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 anatomical structure morphogenesis GO:0009653 9.37 FBN2 FBN1
2 kidney development GO:0001822 9.32 WFS1 FBN1
3 post-embryonic eye morphogenesis GO:0048050 9.26 FBN1 EFEMP1
4 sequestering of TGFbeta in extracellular matrix GO:0035583 9.16 FBN2 FBN1
5 camera-type eye development GO:0043010 9.13 FBN2 FBN1 EFEMP1
6 embryonic eye morphogenesis GO:0048048 8.8 FBN2 FBN1 EFEMP1

Molecular functions related to Marden-Walker Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.33 FBN2 FBN1 EFEMP1
2 extracellular matrix structural constituent GO:0005201 9.13 FBN2 FBN1 EFEMP1
3 extracellular matrix constituent conferring elasticity GO:0030023 8.62 FBN2 FBN1
Sources

Sources for Marden-Walker Syndrome

About this section
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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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