MWS
MCID: MWT001
MIFTS: 49

Mowat-Wilson Syndrome (MWS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Mental diseases categories

Summaries for Mowat-Wilson Syndrome

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22Genetics Home Reference, 44NIH Rare Diseases, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 Mowat-wilson syndrome (mws) is a rare genetic disorder that affects many systems of the body. the main features include moderate to severe intellectual disability, distinctive facial features, and epilepsy. other features may include hirschsprung disease; heart (cardiac) defects; kidney (renal) abnormalities; genital abnormalities; eye abnormalities; and short stature. it is caused by a mutation or deletion in the zeb2 gene, which usually occurs for the first time (sporadically) in affected people. treatment typically focuses on the specific symptoms in each person. last updated: 3/10/2014

MalaCards: Mowat-Wilson Syndrome, also known as hirschsprung disease-mental retardation syndrome, is related to mowat-wilson syndrome due to monosomy 2q22 and hirschsprung's disease, and has symptoms including hallux valgus, ventricular septal defect/interventricular communication and hypospadias/epispadias/bent penis. An important gene associated with Mowat-Wilson Syndrome is ZEB2 (zinc finger E-box binding homeobox 2). The compound zinc have been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and heart, and related mouse phenotypes are mortality/aging and nervous system.

Genetics Home Reference:22 Mowat-Wilson syndrome is a genetic condition that affects many parts of the body. Major signs of this disorder frequently include distinctive facial features, intellectual disability, delayed development, an intestinal disorder called Hirschsprung disease, and other birth defects.

Description from OMIM:48 235730

GeneReviews summary for mws

Aliases & Classifications for Mowat-Wilson Syndrome

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66Wikipedia, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 50Orphanet, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
mowat-wilson syndrome:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy


Aliases & Descriptions:

mowat-wilson syndrome 66 20 44 21 23 22 48 50 63
hirschsprung disease-mental retardation syndrome 20 22
microcephaly, mental retardation, and distinct facial features, with or without hirschsprung disease 22
mental retardation, microcephaly, and distinct facial features with or without hirschsprung disease 44
hirschsprung disease mental retardation syndrome 44
hirschsprung disease - intellectual disability 50
mws 22


External Ids:

OMIM48 235730
MESH via Orphanet37 C536990
ICD10 via Orphanet27 Q43.1
UMLS via Orphanet64 C1856113

Related Diseases for Mowat-Wilson Syndrome

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Mowat-Wilson Syndrome:



Diseases related to mowat-wilson syndrome

Symptoms for Mowat-Wilson Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

235730

Clinical features from OMIM:

235730

Symptoms:

50 (show all 50)
  • hallux valgus
  • ventricular septal defect/interventricular communication
  • hypospadias/epispadias/bent penis
  • deepset eyes/enophthalmos
  • mouth held open
  • vesicorenal/vesicoureteral reflux
  • bifid scrotum
  • tetralogy of fallot/trilogy of fallot
  • external ear anomalies
  • coloboma of iris
  • fine hair
  • high forehead
  • thick columella
  • abnormal sole/deep creases
  • supernumerary nipples/polythelia
  • tapered fingers
  • camptodactyly of fingers
  • thick/wide ear lobe
  • cleft lip
  • everted lower lip
  • pointed chin
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • eyebrows anomalies
  • high vaulted/narrow palate
  • constipation
  • nystagmus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • seizures/epilepsy/absences/spasms/status epilepticus
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • corpus callosum/septum pellucidum total/partial agenesis
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • syndactyly of fingers/interdigital palm
  • low set ears/posteriorly rotated ears
  • hypertelorism
  • hypotonia
  • broad nose/nasal bridge
  • broad/bifid big toe
  • dolichocolon/megacolon/megadolichocolon/hirschsprung's disease
  • dilated cerebral ventricles without hydrocephaly
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • patent ductus arteriosus
  • strabismus/squint
  • epicanthic folds
  • congenital cardiac anomaly/malformation/cardiopathy
  • ectopic/horseshoe/fused kidneys
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • microcephaly
  • short stature/dwarfism/nanism
  • frontal bossing/prominent forehead

Drugs & Therapeutics for Mowat-Wilson Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Mowat-Wilson Syndrome

Drug clinical trials:

Search ClinicalTrials for Mowat-Wilson Syndrome

Search NIH Clinical Center for Mowat-Wilson Syndrome

Search CenterWatch for Mowat-Wilson Syndrome

Genetic Tests for Mowat-Wilson Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Mowat-Wilson Syndrome:

id Genetic test Affiliating Genes
1 Mowat-Wilson Syndrome21 23 ZEB2

Anatomical Context for Mowat-Wilson Syndrome

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34MalaCards
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MalaCards organs/tissues related to Mowat-Wilson Syndrome:

34
Eye, Kidney, Heart, Testes, Cerebellum

Animal Models for Mowat-Wilson Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Mowat-Wilson Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107689.1GEMIN2, ZEB2
2MP:00036318.8GEMIN2, ZEB2

Publications for Mowat-Wilson Syndrome

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53PubMed
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Articles related to Mowat-Wilson Syndrome:

(show top 50)    (show all 56)
idTitleAuthorsYear
1
Ocular phenotype of Mowat-Wilson syndrome in the first reported Cypriot patients: an under-recognized association. (24263623)
2014
2
Mowat-Wilson syndrome associated with craniosynostosis. (24300291)
2014
3
Mowat-Wilson syndrome: the first report of an association with central nervous system tumors. (24092421)
2013
4
Recurrent structural malformations identified among Mowat-Wilson syndrome fetuses. (24375696)
2013
5
Vagus nerve stimulation for drug-resistant epilepsy in a patient with Mowat-Wilson syndrome. (23860154)
2013
6
Mowat-Wilson syndrome detected by using high resolution microarray. (24029077)
2013
7
Mowat-Wilson syndrome in a fetus with antenatal diagnosis of short corpus callosum: advocacy for standard autopsy. (23523603)
2013
8
Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype. (23322667)
2013
9
ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome. (23466526)
2013
10
Epilepsy in Mowat-Wilson syndrome: is it a matter of GABA? (23815573)
2013
11
Mowat-Wilson Syndrome: Deafness in the First Egyptian Case Who Was Conceived by Intracytoplasmic Sperm Injection. (24282181)
2013
12
A novel long-range enhancer regulates postnatal expression of Zeb2: implications for Mowat-Wilson syndrome phenotypes. (23001561)
2012
13
Ophthalmologic abnormalities in Mowat-Wilson syndrome and a mutation in ZEB2. (22486326)
2012
14
Mowat-Wilson syndrome: the first clinical and molecular report of an indonesian patient. (23243526)
2012
15
The behavioral phenotype of Mowat-Wilson syndrome. (22246645)
2012
16
A case of Mowat-Wilson syndrome caused by a truncating mutation within exon 8 of the ZEB2 gene. (23427518)
2012
17
Intrahepatic biliary anomalies in a patient with Mowat-Wilson syndrome uncover a role for the zinc finger homeobox gene zfhx1b in vertebrate biliary development. (21336163)
2011
18
Avoiding pitfalls in molecular genetic testing: case studies of high-resolution array comparative genomic hybridization testing in the definitive diagnosis of Mowat-Wilson syndrome. (21497296)
2011
19
Clinical utility gene card for: Mowat-Wilson syndrome. (21343952)
2011
20
Mowat-Wilson syndrome with associated dysphagia. (20101699)
2010
21
Second-trimester detection of Mowat-Wilson syndrome using comparative genomic hybridization microarray testing. (20093881)
2010
22
Mowat-Wilson syndrome: the first two Malaysian cases. (20428734)
2010
23
Severe clinical course of Hirschsprung disease in a Mowat-Wilson syndrome patient. (20145308)
2010
24
Mowat-Wilson syndrome--a case report]. (19764599)
2009
25
Outcomes of Hirschsprung's disease associated with Mowat-Wilson syndrome. (19302864)
2009
26
Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature. (19215041)
2009
27
Safe use of the classic laryngeal mask airway and endotracheal intubation in general anaesthesia for a patient with Mowat-Wilson syndrome. (19207908)
2009
28
Comprehensive ZEB2 gene analysis for Mowat-Wilson syndrome in a North American cohort: a suggested approach to molecular diagnostics. (19842203)
2009
29
Mowat-Wilson syndrome: an underdiagnosed syndrome? (18445050)
2008
30
Mowat-Wilson syndrome affecting 3 siblings. (18230842)
2008
31
Recurrence of Mowat-Wilson syndrome in siblings with a novel mutation in the ZEB2 gene. (19006215)
2008
32
Mowat--Wilson syndrome: the clinical report with the novel mutation in ZFHX1B (exon 8: c.2372del C; p.T791fsX816). (18259761)
2008
33
Mowat-Wilson syndrome in a Moroccan consanguineous family. (21957361)
2007
34
Pulmonary artery sling and congenital tracheal stenosis in another patient with Mowat-Wilson syndrome. (17567886)
2007
35
ZFHX1B mutations in patients with Mowat-Wilson syndrome. (17203459)
2007
36
Mowat-Wilson syndrome. (17958891)
2007
37
Atypical ZFHX1B mutation associated with a mild Mowat-Wilson syndrome phenotype. (16532472)
2006
38
A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype. (16688751)
2006
39
Clinical features and management issues in Mowat-Wilson syndrome. (17103451)
2006
40
Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation. (16088920)
2005
41
Variations in aganglionic segment length of the enteric neural plexus in Mowat-Wilson syndrome. (16150342)
2005
42
Genitourinary anomalies in Mowat-Wilson syndrome with deletion/mutation in the zinc finger homeo box 1B gene (ZFHX1B). Report of three Italian cases with hypospadias and review. (15908750)
2005
43
Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1. (15121779)
2004
44
Facial phenotype allows diagnosis of Mowat-Wilson syndrome in the absence of Hirschsprung disease. (14679597)
2004
45
Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity. (14757866)
2004
46
Frameshift mutation of the zinc finger homeo box 1 B gene in syndromic corpus callosum agenesis (Mowat-Wilson syndrome). (14681759)
2003
47
Mowat-Wilson syndrome. (12746390)
2003
48
Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome. (12920073)
2003
49
Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the gene ZFHX1B (SIP1): confirmation of the Mowat-Wilson syndrome. (12522797)
2003
50
Mowat-Wilson Syndrome (20301585)
1993

Variations for Mowat-Wilson Syndrome

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Mowat-Wilson Syndrome:

65
id Symbol AA change Variation ID SNP ID
1ZEB2p.Arg953GlyVAR_027017
2ZEB2p.Gln1119ArgVAR_027018

Clinvar genetic disease variations for Mowat-Wilson Syndrome:

1 (show all 16)
id Gene Name Type Significance SNP ID Assembly Location
1ZEB2NM_014795.3(ZEB2): c.1645A> T (p.Arg549Ter)single nucleotide variantPathogenicrs137852980GRCh37Chr 2, 145157109: 145157109
2ZEB2NM_014795.3(ZEB2): c.2083C> T (p.Arg695Ter)single nucleotide variantPathogenicrs137852981GRCh37Chr 2, 145156671: 145156671
3ZEB2NM_014795.3(ZEB2): c.1173_1176delAACA (p.Thr392Asnfs)deletionPathogenicGRCh37Chr 2, 145157578: 145157581
4ZEB2NM_014795.3(ZEB2): c.1426dupA (p.Met476Asnfs)duplicationPathogenicGRCh37Chr 2, 145157328: 145157328
5ZEB2NM_014795.3(ZEB2): c.760_761dupAC (p.Gln255Profs)duplicationPathogenicGRCh37Chr 2, 145161529: 145161530
6ZEB2NM_014795.3(ZEB2): c.2453dupT (p.Leu818Phefs)duplicationPathogenicGRCh37Chr 2, 145156301: 145156301
7ZEB2NM_014795.3(ZEB2): c.1892delA (p.Asn631Ilefs)deletionPathogenicGRCh37Chr 2, 145156862: 145156862
8ZEB2NM_014795.3(ZEB2): c.553_554insTG (p.Arg185Leufs)insertionPathogenicGRCh37Chr 2, 145162441: 145162442
9ZEB2NM_014795.3(ZEB2): c.2555C> G (p.Ser852Ter)single nucleotide variantPathogenicrs137852982GRCh37Chr 2, 145156199: 145156199
10ZEB2NM_014795.3(ZEB2): c.3566_3567dupCC (p.Met1190Profs)duplicationPathogenicGRCh37Chr 2, 145147096: 145147097
11ZEB2NC_000002.12: g.(144114719_144303837)_(144566562_144681958)deldeletionPathogenicGRCh38Chr 2, 144303837: 144566562
12ZEB2NM_014795.3(ZEB2): c.1862delT (p.Val621Alafs)deletionPathogenicGRCh37Chr 2, 145156892: 145156892
13ZEB2NM_014795.3(ZEB2): c.-69-1G> Asingle nucleotide variantPathogenicGRCh37Chr 2, 145274987: 145274987
14ZEB2NM_014795.3(ZEB2): c.3356A> G (p.Gln1119Arg)single nucleotide variantPathogenicrs137852983GRCh37Chr 2, 145147307: 145147307
15ZEB2NM_014795.3(ZEB2): c.3211T> C (p.Ser1071Pro)single nucleotide variantPathogenicrs397515448GRCh37Chr 2, 145147452: 145147452
16ZEB2NM_014795.3(ZEB2): c.3134A> G (p.His1045Arg)single nucleotide variantPathogenicrs397515449GRCh37Chr 2, 145147529: 145147529

Expression for genes affiliated with Mowat-Wilson Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Mowat-Wilson Syndrome

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Pathways for genes affiliated with Mowat-Wilson Syndrome

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Compounds for genes affiliated with Mowat-Wilson Syndrome

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46Novoseek, 25HMDB
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Compounds related to Mowat-Wilson Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1zinc46 2510.1GEMIN2, ZEB2

GO Terms for genes affiliated with Mowat-Wilson Syndrome

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Products for genes affiliated with Mowat-Wilson Syndrome

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Sources for Mowat-Wilson Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet