MCID: MWT001
MIFTS: 52

Mowat-Wilson Syndrome malady

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

Summaries for Mowat-Wilson Syndrome

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NIH Rare Diseases:43 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 based summary: Mowat-Wilson Syndrome, also known as hirschsprung disease-mental retardation syndrome, is related to mowat-wilson syndrome due to monosomy 2q22 and craniosynostosis, and has symptoms including intellectual disability, seizures and microcephaly. 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:23 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.

OMIM:47 Mowat-Wilson syndrome is an autosomal dominant complex developmental disorder; individuals with functional null... (235730) more...

GeneReviews summary for mws

Aliases & Classifications for Mowat-Wilson Syndrome

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Sources:
47OMIM, 11diseasecard, 65Wikipedia, 21GeneReviews, 43NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 49Orphanet, 24GTR, 62UMLS, 36MESH via Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Mowat-Wilson Syndrome, Aliases & Descriptions:

Name: Mowat-Wilson Syndrome 47 11 65 21 43 22 23 49 24 62
Hirschsprung Disease-Mental Retardation Syndrome 21 23 62
Hirschsprung Disease - Intellectual Disability 43 49
Microcephaly, Mental Retardation, and Distinct Facial Features, with or Without Hirschsprung Disease 23
 
Mental Retardation, Microcephaly, and Distinct Facial Features with or Without Hirschsprung Disease 43
Hirschsprung Disease Mental Retardation Syndrome 43
Mws 23


Classifications:



Characteristics (Orphanet epidemiological data):

49
mowat-wilson syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal


External Ids:

OMIM47 235730
Orphanet49 2152
MESH via Orphanet36 C536990
ICD10 via Orphanet28 Q43.1
UMLS via Orphanet63 C1856113

Related Diseases for Mowat-Wilson Syndrome

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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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Symptoms by clinical synopsis from OMIM:

235730

Clinical features from OMIM:

235730

Symptoms:

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

HPO human phenotypes related to Mowat-Wilson Syndrome:

(show all 94)
id Description Frequency HPO Source Accession
1 intellectual disability obligate (100%) HP:0001249
2 seizures hallmark (90%) HP:0001250
3 microcephaly hallmark (90%) HP:0000252
4 high forehead hallmark (90%) HP:0000348
5 deeply set eye hallmark (90%) HP:0000490
6 abnormality of the eyebrow hallmark (90%) HP:0000534
7 frontal bossing hallmark (90%) HP:0002007
8 external ear malformation hallmark (90%) HP:0008572
9 large earlobe hallmark (90%) HP:0009748
10 cognitive impairment hallmark (90%) HP:0100543
11 microcephaly 84% HP:0000252
12 aganglionic megacolon 62% HP:0002251
13 pointed chin typical (50%) HP:0000307
14 hypertelorism typical (50%) HP:0000316
15 cupped ear typical (50%) HP:0000378
16 wide nasal bridge typical (50%) HP:0000431
17 deeply set eye typical (50%) HP:0000490
18 downslanted palpebral fissures typical (50%) HP:0000494
19 ptosis typical (50%) HP:0000508
20 esotropia typical (50%) HP:0000565
21 iris coloboma typical (50%) HP:0000612
22 constipation typical (50%) HP:0002019
23 short stature typical (50%) HP:0004322
24 prominent nasal tip typical (50%) HP:0005274
25 large earlobe typical (50%) HP:0009748
26 low hanging columella typical (50%) HP:0009765
27 uplifted earlobe typical (50%) HP:0009909
28 cryptorchidism typical (50%) HP:0000028
29 open mouth typical (50%) HP:0000194
30 everted lower lip vermilion typical (50%) HP:0000232
31 epicanthus typical (50%) HP:0000286
32 low-set, posteriorly rotated ears typical (50%) HP:0000368
33 tapered finger typical (50%) HP:0001182
34 seizures typical (50%) HP:0001250
35 muscular hypotonia typical (50%) HP:0001252
36 fine hair typical (50%) HP:0002213
37 aganglionic megacolon typical (50%) HP:0002251
38 aplasia/hypoplasia of the corpus callosum typical (50%) HP:0007370
39 broad columella typical (50%) HP:0010761
40 displacement of the external urethral meatus typical (50%) HP:0100627
41 agenesis of corpus callosum 42% HP:0001274
42 cryptorchidism frequent (33%) HP:0000028
43 hypospadias frequent (33%) HP:0000047
44 bifid scrotum frequent (33%) HP:0000048
45 aganglionic megacolon frequent (33%) HP:0002251
46 generalized muscle hypertrophy frequent (33%) HP:0003720
47 submucous cleft hard palate occasional (7.5%) HP:0000176
48 bifid scrotum occasional (7.5%) HP:0000048
49 vesicoureteral reflux occasional (7.5%) HP:0000076
50 cleft palate occasional (7.5%) HP:0000175
51 cleft upper lip occasional (7.5%) HP:0000204
52 pointed chin occasional (7.5%) HP:0000307
53 strabismus occasional (7.5%) HP:0000486
54 iris coloboma occasional (7.5%) HP:0000612
55 nystagmus occasional (7.5%) HP:0000639
56 ventricular septal defect occasional (7.5%) HP:0001629
57 tetralogy of fallot occasional (7.5%) HP:0001636
58 patent ductus arteriosus occasional (7.5%) HP:0001643
59 hallux valgus occasional (7.5%) HP:0001822
60 preaxial foot polydactyly occasional (7.5%) HP:0001841
61 deep plantar creases occasional (7.5%) HP:0001869
62 constipation occasional (7.5%) HP:0002019
63 ventriculomegaly occasional (7.5%) HP:0002119
64 cerebral cortical atrophy occasional (7.5%) HP:0002120
65 supernumerary nipples occasional (7.5%) HP:0002558
66 finger syndactyly occasional (7.5%) HP:0006101
67 aplasia/hypoplasia of the cerebellum occasional (7.5%) HP:0007360
68 aplasia/hypoplasia affecting the eye occasional (7.5%) HP:0008056
69 camptodactyly of finger occasional (7.5%) HP:0100490
70 abnormal localization of kidney occasional (7.5%) HP:0100542
71 autosomal dominant inheritance HP:0000006
72 delayed eruption of teeth HP:0000684
73 widely spaced teeth HP:0000687
74 pectus excavatum HP:0000767
75 pectus carinatum HP:0000768
76 muscular hypotonia HP:0001252
77 motor delay HP:0001270
78 absent speech HP:0001344
79 abnormality of the rib cage HP:0001547
80 ventricular septal defect HP:0001629
81 defect in the atrial septum HP:0001631
82 pulmonic stenosis HP:0001642
83 patent ductus arteriosus HP:0001643
84 abnormality of metabolism/homeostasis HP:0001939
85 vomiting HP:0002013
86 hypoplasia of the corpus callosum HP:0002079
87 drooling HP:0002307
88 intellectual disability, moderate HP:0002342
89 supernumerary nipples HP:0002558
90 abdominal distention HP:0003270
91 abnormality of the abdominal wall HP:0004298
92 pulmonary artery stenosis HP:0004415
93 pulmonary artery sling HP:0004961
94 broad eyebrow HP:0011229

Drugs & Therapeutics for Mowat-Wilson Syndrome

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Drug clinical trials:

Search ClinicalTrials for Mowat-Wilson Syndrome

Search NIH Clinical Center for Mowat-Wilson Syndrome

Genetic Tests for Mowat-Wilson Syndrome

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Genetic tests related to Mowat-Wilson Syndrome:

id Genetic test Affiliating Genes
1 Mowat-Wilson Syndrome22 24 ZEB2

Anatomical Context for Mowat-Wilson Syndrome

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MalaCards organs/tissues related to Mowat-Wilson Syndrome:

33
Eye, Kidney, Heart, Testes, Cerebellum

Animal Models for Mowat-Wilson Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Mowat-Wilson Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107689.1GEMIN2, ZEB2
2MP:00036318.8GEMIN2, ZEB2

Publications for Mowat-Wilson Syndrome

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Articles related to Mowat-Wilson Syndrome:

(show top 50)    (show all 63)
idTitleAuthorsYear
1
Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome. (25899569)
2015
2
Mowat-Wilson syndrome. (25608118)
2015
3
Hirschsprung's disease associated with Mowat-Wilson syndrome. (24827654)
2014
4
Ocular phenotype of Mowat-Wilson syndrome in the first reported Cypriot patients: an under-recognized association. (24263623)
2014
5
CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases. (25123255)
2014
6
ZEB2 Gene Mutation and Duplication of 22q11.23 in Mowat-Wilson Syndrome. (25028418)
2014
7
Mowat-Wilson syndrome associated with craniosynostosis. (24300291)
2014
8
Mowat-Wilson syndrome: the first report of an association with central nervous system tumors. (24092421)
2013
9
Recurrent structural malformations identified among Mowat-Wilson syndrome fetuses. (24375696)
2013
10
Vagus nerve stimulation for drug-resistant epilepsy in a patient with Mowat-Wilson syndrome. (23860154)
2013
11
Mowat-Wilson syndrome detected by using high resolution microarray. (24029077)
2013
12
Mowat-Wilson syndrome in a fetus with antenatal diagnosis of short corpus callosum: advocacy for standard autopsy. (23523603)
2013
13
Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype. (23322667)
2013
14
ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome. (23466526)
2013
15
Epilepsy in Mowat-Wilson syndrome: is it a matter of GABA? (23815573)
2013
16
Mowat-Wilson Syndrome: Deafness in the First Egyptian Case Who Was Conceived by Intracytoplasmic Sperm Injection. (24282181)
2013
17
A novel long-range enhancer regulates postnatal expression of Zeb2: implications for Mowat-Wilson syndrome phenotypes. (23001561)
2012
18
Ophthalmologic abnormalities in Mowat-Wilson syndrome and a mutation in ZEB2. (22486326)
2012
19
Mowat-Wilson syndrome: the first clinical and molecular report of an indonesian patient. (23243526)
2012
20
The behavioral phenotype of Mowat-Wilson syndrome. (22246645)
2012
21
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
22
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
23
Clinical utility gene card for: Mowat-Wilson syndrome. (21343952)
2011
24
Mowat-Wilson syndrome with associated dysphagia. (20101699)
2010
25
Second-trimester detection of Mowat-Wilson syndrome using comparative genomic hybridization microarray testing. (20093881)
2010
26
Mowat-Wilson syndrome: the first two Malaysian cases. (20428734)
2010
27
Mowat-Wilson syndrome--a case report]. (19764599)
2009
28
Outcomes of Hirschsprung's disease associated with Mowat-Wilson syndrome. (19302864)
2009
29
Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature. (19215041)
2009
30
Safe use of the classic laryngeal mask airway and endotracheal intubation in general anaesthesia for a patient with Mowat-Wilson syndrome. (19207908)
2009
31
Comprehensive ZEB2 gene analysis for Mowat-Wilson syndrome in a North American cohort: a suggested approach to molecular diagnostics. (19842203)
2009
32
Mowat-Wilson syndrome: an underdiagnosed syndrome? (18445050)
2008
33
Mowat-Wilson syndrome affecting 3 siblings. (18230842)
2008
34
Recurrence of Mowat-Wilson syndrome in siblings with a novel mutation in the ZEB2 gene. (19006215)
2008
35
Mowat--Wilson syndrome: the clinical report with the novel mutation in ZFHX1B (exon 8: c.2372del C; p.T791fsX816). (18259761)
2008
36
Mowat-Wilson syndrome in a Moroccan consanguineous family. (21957361)
2007
37
Pulmonary artery sling and congenital tracheal stenosis in another patient with Mowat-Wilson syndrome. (17567886)
2007
38
ZFHX1B mutations in patients with Mowat-Wilson syndrome. (17203459)
2007
39
Atypical ZFHX1B mutation associated with a mild Mowat-Wilson syndrome phenotype. (16532472)
2006
40
A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype. (16688751)
2006
41
Clinical features and management issues in Mowat-Wilson syndrome. (17103451)
2006
42
Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation. (16088920)
2005
43
Variations in aganglionic segment length of the enteric neural plexus in Mowat-Wilson syndrome. (16150342)
2005
44
Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1. (15121779)
2004
45
Facial phenotype allows diagnosis of Mowat-Wilson syndrome in the absence of Hirschsprung disease. (14679597)
2004
46
Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity. (14757866)
2004
47
Frameshift mutation of the zinc finger homeo box 1 B gene in syndromic corpus callosum agenesis (Mowat-Wilson syndrome). (14681759)
2003
48
Mowat-Wilson syndrome. (12746390)
2003
49
Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome. (12920073)
2003
50
Mowat-Wilson Syndrome (20301585)
1993

Variations for Mowat-Wilson Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Mowat-Wilson Syndrome:

64
id Symbol AA change Variation ID SNP ID
1ZEB2p.Arg953GlyVAR_027017
2ZEB2p.Gln1119ArgVAR_027018

Clinvar genetic disease variations for Mowat-Wilson Syndrome:

7 (show all 16)
id Gene Variation 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_000002.12deletionPathogenicGRCh38Chr 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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Search GEO for disease gene expression data for Mowat-Wilson Syndrome.

Pathways for genes affiliated with Mowat-Wilson Syndrome

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Compounds for genes affiliated with Mowat-Wilson Syndrome

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Sources:
45Novoseek, 26HMDB
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Compounds related to Mowat-Wilson Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1zinc45 2610.1GEMIN2, 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
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet