MWKS
MCID: MRD002
MIFTS: 56

Marden-Walker Syndrome (MWKS)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Marden-Walker Syndrome

MalaCards integrated aliases for Marden-Walker Syndrome:

Name: Marden-Walker Syndrome 56 74 52 58 73 29 6 71
Mws 56 52 73
Mwks 56 73
Connective Tissue Disorder Marden Walker Type 52
Syndrome, Marden Walker 39
Arachnodactyly 43

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:

56
Inheritance:
autosomal dominant

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


HPO:

31

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Marden-Walker Syndrome

NIH Rare Diseases : 52 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 3, 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 Phospholipase-C Pathway and Degradation of the extracellular matrix. The drugs Perindopril and Verapamil have been mentioned in the context of this disorder. Affiliated tissues include kidney, eye and thymus, and related phenotypes are intellectual disability and global developmental delay

OMIM : 56 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)

UniProtKB/Swiss-Prot : 73 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 : 74 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 281)
# Related Disease Score Top Affiliating Genes
1 contractural arachnodactyly, congenital 34.2 FBN2 FBN1
2 arthrogryposis, distal, type 3 32.8 PIEZO2 FBN2
3 arthrogryposis, distal, type 5 32.7 PIEZO2 FBN2
4 marfan syndrome 32.2 FBN2 FBN1
5 isolated ectopia lentis 30.6 FBN2 FBN1
6 aneurysm 30.4 FBN2 FBN1
7 pectus excavatum 30.4 PIEZO2 FBN1
8 ehlers-danlos syndrome 30.3 FBN2 FBN1
9 distal arthrogryposis 30.2 PIEZO2 FBN2 FBN1
10 aortic aneurysm 30.1 FBN2 FBN1
11 orthostatic intolerance 30.0 FBN2 FBN1
12 hypermobile ehlers-danlos syndrome 29.7 FBN1 EFEMP1
13 myopia 29.5 FBN2 FBN1 EFEMP1
14 loeys-dietz syndrome 29.3 FBN2 FBN1
15 scoliosis 29.1 PIEZO2 FBN2 FBN1 EFEMP1
16 arachnodactyly - intellectual disability - dysmorphism 12.5
17 muckle-wells syndrome 12.4
18 scoliosis, arachnodactyly, and blindness 12.4
19 mowat-wilson syndrome 12.3
20 van den ende-gupta syndrome 12.2
21 arachnodactyly-abnormal ossification-intellectual disability syndrome 12.2
22 shprintzen-goldberg craniosynostosis syndrome 12.1
23 achard syndrome 12.0
24 haim-munk syndrome 11.8
25 kosztolanyi syndrome 11.7
26 cryopyrin-associated periodic syndrome 11.5
27 cutis laxa, autosomal recessive, type ib 11.5
28 autosomal recessive cutis laxa type i 11.5
29 jaffer beighton syndrome 11.5
30 van benthem-driessen-hanveld syndrome 11.4
31 al-gazali syndrome 11.3
32 arterial tortuosity syndrome 11.2
33 galloway-mowat syndrome 2, x-linked 11.2
34 marfanoid-progeroid-lipodystrophy syndrome 11.2
35 galloway-mowat syndrome 3 11.2
36 galloway-mowat syndrome 4 11.2
37 galloway-mowat syndrome 5 11.2
38 vagneur triolle ripert syndrome 11.2
39 marfanoid hypermobility syndrome 11.1
40 antley-bixler syndrome without genital anomalies or disordered steroidogenesis 11.1
41 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 11.1
42 galloway-mowat syndrome 1 11.1
43 multiple pterygium syndrome, escobar variant 11.1
44 bazex syndrome 11.1
45 harrod syndrome 11.1
46 glass syndrome 11.1
47 sotos syndrome 2 11.1
48 loeys-dietz syndrome 4 11.1
49 epiphyseal chondrodysplasia, miura type 11.1
50 galloway-mowat syndrome 6 11.1

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 31 (show top 50) (show all 91)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
4 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
5 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
6 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
7 feeding difficulties 58 31 hallmark (90%) Very frequent (99-80%) HP:0011968
8 skeletal muscle atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003202
9 narrow mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000160
10 retrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000278
11 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
12 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
13 specific learning disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001328
14 ptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000508
15 mask-like facies 58 31 hallmark (90%) Very frequent (99-80%) HP:0000298
16 arachnodactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001166
17 blepharophimosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000581
18 radioulnar synostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002974
19 arthrogryposis multiplex congenita 58 31 hallmark (90%) Very frequent (99-80%) HP:0002804
20 bifid uvula 58 31 hallmark (90%) Very frequent (99-80%) HP:0000193
21 muscular dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003560
22 submucous cleft hard palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000176
23 posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000358
24 severe short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003510
25 short palpebral fissure 58 31 hallmark (90%) Very frequent (99-80%) HP:0012745
26 aplasia/hypoplasia involving the skeletal musculature 58 31 hallmark (90%) Very frequent (99-80%) HP:0001460
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 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
35 abnormal form of the vertebral bodies 58 31 occasional (7.5%) Occasional (29-5%) HP:0003312
36 metatarsus adductus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001840
37 hydronephrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000126
38 talipes 58 31 occasional (7.5%) Occasional (29-5%) HP:0001883
39 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
40 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
41 agenesis of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001274
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:

56
Genitourinary External Genitalia Male:
inguinal hernia
micropenis
hypospadias

Head And Neck Neck:
short neck

Neurologic Central Nervous System:
seizures
dandy-walker malformation
agenesis of corpus callosum
cerebellar hypoplasia
inferior vermis hypoplasia
more
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

Head And Neck Eyes:
hypertelorism
strabismus
ptosis
microphthalmia
blepharophimosis
more
Skeletal Spine:
scoliosis
kyphosis

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

UMLS symptoms related to Marden-Walker Syndrome:


seizures

MGI Mouse Phenotypes related to Marden-Walker Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.55 EFEMP1 FBN1 FBN2 PIEZO2 WFS1
2 integument MP:0010771 9.35 EFEMP1 FBN1 FBN2 PIEZO2 WFS1
3 mortality/aging MP:0010768 9.02 EFEMP1 FBN1 FBN2 PIEZO2 WFS1

Drugs & Therapeutics for Marden-Walker Syndrome

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

(show top 50) (show all 84)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Perindopril Approved Phase 4 107133-36-8, 82834-16-0 107807
2
Verapamil Approved Phase 4 52-53-9 2520
3
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
4
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
5
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
6
Fluoxetine Approved, Vet_approved Phase 4 54910-89-3 3386
7 Angiotensin-Converting Enzyme Inhibitors Phase 4
8
protease inhibitors Phase 4
9 HIV Protease Inhibitors Phase 4
10 Adrenergic beta-Antagonists Phase 4
11 Adrenergic beta-1 Receptor Antagonists Phase 4
12 Adrenergic Agents Phase 4
13 Adrenergic Antagonists Phase 4
14 Vasodilator Agents Phase 4
15 Sympatholytics Phase 4
16 Calcium, Dietary Phase 4
17 calcium channel blockers Phase 4
18 Dopamine Agents Phase 4
19 Dopamine Antagonists Phase 4
20 Central Nervous System Stimulants Phase 4
21 Psychotropic Drugs Phase 4
22 Antipsychotic Agents Phase 4
23 Neurotransmitter Agents Phase 4
24
Calcium Nutraceutical Phase 4 7440-70-2 271
25
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
26
Nebivolol Approved, Investigational Phase 3 99200-09-6, 118457-14-0, 152520-56-4 71301
27
Angiotensin II Approved, Investigational Phase 3 4474-91-3, 11128-99-7, 68521-88-0 172198
28 Adrenergic beta-Agonists Phase 3
29 Adrenergic Agonists Phase 3
30 Angiotensin II Type 1 Receptor Blockers Phase 3
31 Angiotensinogen Phase 3
32 Antihypertensive Agents Phase 3
33 Angiotensin Receptor Antagonists Phase 3
34 Giapreza Phase 3
35 Anti-Arrhythmia Agents Phase 3
36
Irbesartan Approved, Investigational Phase 2 138402-11-6 3749
37
Doxycycline Approved, Investigational, Vet_approved Phase 2 564-25-0 54671203
38
Propranolol Approved, Investigational Phase 2 525-66-6 4946
39
Parathyroid hormone Approved, Investigational Phase 2 9002-64-6
40
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
41
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
42
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5
43
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
44
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
45
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492 6473866
46 Prednisolone acetate Approved, Vet_approved Phase 1, Phase 2 52-21-1
47
Mycophenolic acid Approved Phase 1, Phase 2 24280-93-1 446541
48
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
49
Promethazine Approved, Investigational Phase 1, Phase 2 60-87-7 4927
50
Acetaminophen Approved Phase 1, Phase 2 103-90-2 1983

Interventional clinical trials:

(show all 48)
# 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 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
4 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
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 Effects of Losartan vs Atenolol on Aortic Stiffness and Diastolic Function in Adults With Marfan Syndrome Completed NCT00723801 Phase 3 Atenolol;Losartan
8 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
9 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
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 Dose Study of Thymus Transplantation in DiGeorge Anomaly, IND 9836, #932.1 Completed NCT00576836 Phase 2
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 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
18 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
19 Thymus Transplantation With Immunosuppression, #884 Completed NCT00579709 Phase 1
20 Parathyroid and Thymus Transplantation in DiGeorge Syndrome, #931 Completed NCT00566488 Phase 1
21 Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome Unknown status NCT00005102
22 Development of a Blood Test for Marfan Syndrome Unknown status NCT02148900
23 Generation of Marfan Syndrome and Fontan Cardiovascular Models Using Patient-specific Induced Pluripotent Stem Cells Unknown status NCT02815072
24 Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome Completed NCT02460328
25 Middle and Inner Ear Malformation in Children With Velocardiofacial Syndrome Completed NCT00784173
26 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
27 Classifying Ectopia Lentis in Marfan Syndrome Into Five Grades of Increasing Severity Completed NCT04319107
28 Aortopathy in Persons With Bicuspid Aortic Valve, Turner and Marfan Syndrome Completed NCT01760668
29 Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes Completed NCT02213484
30 A Remediation Program for Children at High-Risk of Schizophrenia: 22q11.2 Deletion Syndrome Completed NCT01781923
31 Correlations' Study Between Variability of Expression in FBN1 Gene and Clinical Features in Marfan Patients. Completed NCT01707563
32 Clinical and Molecular Manifestations of Heritable Connective Tissue Disorders Completed NCT00001641
33 Clinical and Molecular Manifestations of Heritable Disorders of Connective Tissue Completed NCT00270686
34 Computer-Based Cognitive Remediation in Adolescents With VCFS Completed NCT00917189
35 Thoracic Aortic Dilatation Syndromes - Diagnostic, Incidences, Morbidity, Mortality and Socioeconomical Observations. Completed NCT02111668
36 Sleep Disordered Breathing in Marfan Syndrome: Susceptibility and Hemodynamics Recruiting NCT03985657
37 Pathogenetic Basis of Aortopathy and Aortic Valve Disease Recruiting NCT03440697
38 Cardiorespiratory and Muscular Rehabilitation of Children and Young Adults With Marfan Syndrome: an Interventional, Prospective, Monocentric Study. Recruiting NCT03236571
39 Complex Aortic Aneurysm Repair Using Physician Modified Endografts and Custom Made Devices Recruiting NCT02050113
40 Children and Adolescents With Marfan Syndrome: 10,000 Healthy Steps and Beyond Recruiting NCT03567460
41 Tele-Clinic Visits in Pediatric Marfan Patients Using Parental Echo: The Future? Recruiting NCT03581682
42 Genetic Modifiers of 22q11.2 Deletion Syndrome Active, not recruiting NCT00556530
43 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
44 Study of Arithmetic Abilities of Children With 22q11.2 Deletion Syndrome Aged From 4 to 11 Years Old Not yet recruiting NCT04373226
45 A National Prospective Cohort for Pregnancies in Patients With Rare Vascular Anomalies: COGRare5 Study Not yet recruiting NCT04194619
46 The Oscillation of Crystalline and Intraocular Lenses: a Feasibility Study of the Lens' Movements in the Eye Not yet recruiting NCT04274634
47 Incidence of Infection in the Patient With DiGeorge Syndrome Following Surgery for Congenital Heart Disease Terminated NCT00278005
48 Social Cognition Training and Cognitive Remediation : a New Tool for 22q11.2 Deletion Syndrome Terminated NCT03284060

Search NIH Clinical Center for Marden-Walker Syndrome

Cochrane evidence based reviews: arachnodactyly

Genetic Tests for Marden-Walker Syndrome

Genetic tests related to Marden-Walker Syndrome:

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

Anatomical Context for Marden-Walker Syndrome

MalaCards organs/tissues related to Marden-Walker Syndrome:

40
Kidney, Eye, Thymus, Testes, Bone, Heart, Skeletal Muscle

Publications for Marden-Walker Syndrome

Articles related to Marden-Walker Syndrome:

(show top 50) (show all 86)
# Title Authors PMID Year
1
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. 56 6 61
24726473 2014
2
A 2.84 Mb deletion at 21q22.11 in a patient clinically diagnosed with Marden-Walker syndrome. 61 56
23894067 2013
3
Marden-Walker syndrome versus isolated distal arthrogryposis: evidence that both conditions may be variable manifestations of the same mutated gene. 56 61
9727748 1998
4
Marden-Walker syndrome in an adult. 61 56
7551165 1995
5
Renal anomalies in Marden-Walker syndrome: a clue for prenatal diagnosis. 61 56
7677143 1995
6
A case of Marden-Walker syndrome with Dandy-Walker malformation. 61 56
7543036 1995
7
Marden-Walker syndrome: case report, literature review and nosologic discussion. 56 61
8370150 1993
8
Marden-Walker phenotype: spectrum of variability in three infants. 56 61
7679543 1993
9
Early neurological manifestations and brain anomalies in Marden-Walker syndrome. 56 61
1519648 1992
10
Congenital myopathy with oculo-facial abnormalities (Marden-Walker syndrome). 56 61
1877612 1991
11
A 26-month-old child with Marden-Walker syndrome and pyloric stenosis. 56 61
3591834 1987
12
Brief clinical report and review: the Marden-Walker syndrome. 56 61
7081292 1982
13
Two brothers with the Marden-Walker syndrome: case report and review. 56 61
7252998 1981
14
The Marden-Walker syndrome. 61 56
739527 1978
15
Probable Marden-Walker syndrome: evidence for autosomal recessive inheritance. 56 61
1227520 1975
16
Congenital blepharophimosis, joint contractures, and muscular hypotonia. 56
5167313 1971
17
A new generalized connective tissue syndrome. 56
5945535 1966
18
Myotonia, dwarfism, diffuse bone disease and unusual ocular and facial abnormalities (a new syndrome). 56
4953364 1965
19
First transcatheter leadless pacemaker implantation in a pediatric patient with a genetic disease. 61
32372230 2020
20
Distal arthrogryposis type 5 and PIEZO2 novel variant in a Canadian family. 61
30938034 2019
21
Mutations in PIEZO2 contribute to Gordon syndrome, Marden-Walker syndrome and distal arthrogryposis: A bioinformatics analysis of mechanisms. 61
30988732 2019
22
Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects. 61
27974811 2017
23
Familial Gordon syndrome associated with a PIEZO2 mutation. 61
27714920 2017
24
Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis. 61
27843126 2016
25
Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders. 61
27375131 2016
26
Assessment of the MyWellness Key accelerometer in people with type 2 diabetes. 61
26489052 2015
27
Physical and functional evaluation in Marden-Walker syndrome: case report--review of literature. 61
24649842 2014
28
Re-assigned diagnosis of D4ST1-deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome) after initial diagnosis of Marden-Walker syndrome. 61
22987394 2012
29
Unusual manifestation of Marden-Walker syndrome. 61
23162309 2012
30
Congenital hydrocephalus in clinical practice: a genetic diagnostic approach. 61
21839187 2011
31
Novel findings in the Marden-Walker syndrome. 61
21496524 2011
32
The difficult nosology of blepharophimosis-mental retardation syndromes: report on two siblings. 61
21567902 2011
33
ENU mutagenesis reveals a novel phenotype of reduced limb strength in mice lacking fibrillin 2. 54
20161761 2010
34
[Marden-Walker syndrome--a case report]. 61
19769282 2009
35
A novel mutation (C1425Y) in the FBN2 gene in a father and son with congenital contractural arachnodactyly. 54
19473076 2009
36
The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations. 54
18767143 2009
37
Sonographic femur length to trunk cross area ratio: prediction of fetal outcome in 30 cases in which micromelia was suspected. 61
17578350 2007
38
FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly. 54
17345643 2007
39
Xenopus fibrillin regulates directed convergence and extension. 54
17027959 2007
40
Long-term survival in a child with severe congenital contractural arachnodactyly, autism and severe intellectual disability. 54
16531736 2006
41
Marden-Walker syndrome with some additional anomalies. 61
15693875 2005
42
Orofacial manifestations of congenital fibrillin deficiency: pathogenesis and clinical diagnostics. 54
15646918 2004
43
Determination of the molecular basis of Marfan syndrome: a growth industry. 54
15254580 2004
44
FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly. 54
15121784 2004
45
Ectopia lentis phenotypes and the FBN1 gene. 54
15054843 2004
46
Caecal volvulus in the Marden-Walker syndrome: an uncommon association of two rare diseases in a 4-year old child. Case report. 61
15053474 2004
47
van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: clinical delineation and recurrence in brothers. 61
12673658 2003
48
Fibrillin-1 and fibrillin-2 in human embryonic and early fetal development. 54
12524050 2002
49
Homo- and heterotypic fibrillin-1 and -2 interactions constitute the basis for the assembly of microfibrils. 54
12399449 2002
50
Prenatal ultrasound findings in a fetus with congenital contractural arachnodactyly. 54
12383326 2002

Variations for Marden-Walker Syndrome

ClinVar genetic disease variations for Marden-Walker Syndrome:

6 (show all 17) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PIEZO2 NM_022068.3(PIEZO2):c.2170-2A>CSNV Pathogenic 638404 18:10787184-10787184 18:10787186-10787186
2 EFEMP1 NM_001039348.3(EFEMP1):c.615T>A (p.Tyr205Ter)SNV Pathogenic 691885 2:56108772-56108772 2:55881637-55881637
3 EFEMP1 NM_001039348.3(EFEMP1):c.320_324del (p.Met107fs)deletion Pathogenic 691884 2:56144993-56144997 2:55917858-55917862
4 FBN1 NM_000138.4(FBN1):c.364C>T (p.Arg122Cys)SNV Pathogenic 16440 rs137854467 15:48892414-48892414 15:48600217-48600217
5 FBN1 NM_000138.5(FBN1):c.5788+5G>ASNV Pathogenic 42394 rs193922219 15:48738898-48738898 15:48446701-48446701
6 PIEZO2 NM_022068.3(PIEZO2):c.8056C>T (p.Arg2686Cys)SNV Pathogenic 137630 rs587777451 18:10671727-10671727 18:10671730-10671730
7 WFS1 NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter)SNV Pathogenic 598973 rs771409809 4:6303521-6303521 4:6301794-6301794
8 CHN1 NM_001822.7(CHN1):c.667G>A (p.Ala223Thr)SNV Likely pathogenic 598971 rs1558939623 2:175689207-175689207 2:174824479-174824479
9 KIF1A NM_001244008.1(KIF1A):c.3052C>T (p.His1018Tyr)SNV Uncertain significance 598972 rs1356639316 2:241686664-241686664 2:240747247-240747247
10 PIEZO2 NM_022068.3(PIEZO2):c.6136G>C (p.Glu2046Gln)SNV Uncertain significance 436313 rs200276831 18:10699142-10699142 18:10699144-10699144
11 PIEZO2 NM_022068.3(PIEZO2):c.4073C>T (p.Thr1358Met)SNV Uncertain significance 548506 rs777349822 18:10752653-10752653 18:10752655-10752655
12 PIEZO2 NM_022068.3(PIEZO2):c.5825C>T (p.Thr1942Met)SNV Uncertain significance 638514 18:10704486-10704486 18:10704488-10704488
13 FBN1 NM_000138.4(FBN1):c.139G>A (p.Gly47Ser)SNV Uncertain significance 200029 rs762400500 15:48936828-48936828 15:48644631-48644631
14 46;XX;t(17;22)(q23;q12.2)dnTranslocation Uncertain significance 268011
15 46;XY;t(1;4)(q32;q11)Translocation Uncertain significance 268019
16 NSDHL NM_015922.3(NSDHL):c.1054C>G (p.Leu352Val)SNV Uncertain significance 373975 rs142351862 X:152037592-152037592 X:152869048-152869048
17 KAT6B NM_012330.4(KAT6B):c.3154_3169del (p.Arg1052fs)deletion Uncertain significance 374242 rs1057519003 10:76781771-76781786 10:75022013-75022028

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.39 FBN2 FBN1 EFEMP1
2
Show member pathways
11.99 FBN2 FBN1 EFEMP1
3
Show member pathways
10.66 FBN2 FBN1 EFEMP1
4 10.35 FBN2 FBN1
5 10.34 FBN2 FBN1 EFEMP1

GO Terms for Marden-Walker Syndrome

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 constituent conferring elasticity GO:0030023 8.96 FBN2 FBN1
3 extracellular matrix structural constituent GO:0005201 8.8 FBN2 FBN1 EFEMP1

Sources for Marden-Walker Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....