MCID: MWT001
MIFTS: 50

Mowat-Wilson Syndrome malady

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

Aliases & Classifications for Mowat-Wilson Syndrome

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Aliases & Descriptions for Mowat-Wilson Syndrome:

Name: Mowat-Wilson Syndrome 50 11 69 22 46 23 24 13 52 68 25 12 37 66
Hirschsprung Disease-Mental Retardation Syndrome 23 24 68
Hirschsprung Disease-Intellectual Disability Syndrome 22 52
Hirschsprung Disease Mental Retardation Syndrome 11 46
Microcephaly, Mental Retardation, and Distinct Facial Features, with or Without Hirschsprung Disease 24
 
Mental Retardation, Microcephaly, and Distinct Facial Features with or Without Hirschsprung Disease 46
Microcephaly, Mental Retardation, and Distinct Facial Featrues, with or Without Hirschprung Disease 11
Microcephaly, Mental Retardation, Distinct Facial Features with or Without Hirschsprung Disease 68
Mows 68
Mws 24

Characteristics:

Orphanet epidemiological data:

52
mowat-wilson syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal

HPO:

62
mowat-wilson syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 235730
Disease Ontology11 DOID:0060485
NCIt43 C74999
Orphanet52 ORPHA2152
SNOMED-CT60 703535000
ICD10 via Orphanet29 Q43.1
MESH via Orphanet38 C536990
UMLS via Orphanet67 C1856113
MedGen35 C1856113

Summaries for Mowat-Wilson Syndrome

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Disease Ontology:11 A syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with m-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including hirschsprung disease, genitourinary anomalies (in particular hypospadias in males), congenital heart defects, agenesis of the corpus callosum and eye anomalies. it is caused by de novo heterozygous mutation in the zeb2 gene on chromosome 2q22.

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 mowat-wilson syndrome due to a zeb2 point mutation, and has symptoms including intellectual disability, microcephaly and high forehead. An important gene associated with Mowat-Wilson Syndrome is ZEB2 (Zinc Finger E-Box Binding Homeobox 2). Affiliated tissues include eye, heart and kidney, and related mouse phenotypes are craniofacial and limbs/digits/tail.

NIH Rare Diseases:46 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

UniProtKB/Swiss-Prot:68 Mowat-Wilson syndrome: A complex developmental disorder characterized by mental retardation, delayed motor development, epilepsy, microcephaly and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Affected patients show an easily recognizable facial appearance with deep set eyes and hypertelorism, medially divergent, broad eyebrows, prominent columella, pointed chin and uplifted, notched ear lobes. Some patients manifest Hirschsprung disease.

Genetics Home Reference:24 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:50 Mowat-Wilson syndrome is an autosomal dominant complex developmental disorder; individuals with functional null... (235730) more...

GeneReviews summary for NBK1412

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:

 52 (show all 50)
  • cryptorchidism
  • hypospadias
  • bifid scrotum
  • vesicoureteral reflux
  • ectopic kidney
  • hydronephrosis
  • cleft palate
  • open mouth
  • cleft upper lip
  • high palate
  • everted lower lip vermilion
  • microcephaly
  • epicanthus
  • pointed chin
  • hypertelorism
  • high forehead
  • posteriorly rotated ears
  • wide nasal bridge
  • strabismus
  • deeply set eye
  • abnormality of the eyebrow
  • microphthalmos
  • iris coloboma
  • nystagmus
  • tapered finger
  • seizures
  • muscular hypotonia
  • ventricular septal defect
  • tetralogy of fallot
  • patent ductus arteriosus
  • hallux valgus
  • deep plantar creases
  • frontal bossing
  • constipation
  • ventriculomegaly
  • cerebral cortical atrophy
  • fine hair
  • aganglionic megacolon
  • supernumerary nipple
  • malformation of the heart and great vessels
  • short stature
  • finger syndactyly
  • aplasia/hypoplasia of the cerebellum
  • aplasia/hypoplasia of the corpus callosum
  • external ear malformation
  • large earlobe
  • uplifted earlobe
  • broad hallux phalanx
  • broad columella
  • camptodactyly of finger

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 microcephaly hallmark (90%) HP:0000252
3 high forehead hallmark (90%) HP:0000348
4 deeply set eye hallmark (90%) HP:0000490
5 abnormality of the eyebrow hallmark (90%) HP:0000534
6 seizures hallmark (90%) HP:0001250
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 cryptorchidism typical (50%) HP:0000028
14 open mouth typical (50%) HP:0000194
15 everted lower lip vermilion typical (50%) HP:0000232
16 epicanthus typical (50%) HP:0000286
17 pointed chin typical (50%) HP:0000307
18 hypertelorism typical (50%) HP:0000316
19 low-set, posteriorly rotated ears typical (50%) HP:0000368
20 cupped ear typical (50%) HP:0000378
21 wide nasal bridge typical (50%) HP:0000431
22 deeply set eye typical (50%) HP:0000490
23 downslanted palpebral fissures typical (50%) HP:0000494
24 ptosis typical (50%) HP:0000508
25 esotropia typical (50%) HP:0000565
26 iris coloboma typical (50%) HP:0000612
27 tapered finger typical (50%) HP:0001182
28 seizures typical (50%) HP:0001250
29 muscular hypotonia typical (50%) HP:0001252
30 constipation typical (50%) HP:0002019
31 fine hair typical (50%) HP:0002213
32 aganglionic megacolon typical (50%) HP:0002251
33 short stature typical (50%) HP:0004322
34 prominent nasal tip typical (50%) HP:0005274
35 aplasia/hypoplasia of the corpus callosum typical (50%) HP:0007370
36 large earlobe typical (50%) HP:0009748
37 low hanging columella typical (50%) HP:0009765
38 uplifted earlobe typical (50%) HP:0009909
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 bifid scrotum occasional (7.5%) HP:0000048
48 vesicoureteral reflux occasional (7.5%) HP:0000076
49 cleft palate occasional (7.5%) HP:0000175
50 submucous cleft hard palate occasional (7.5%) HP:0000176
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 nipple 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 delayed eruption of teeth HP:0000684
72 widely spaced teeth HP:0000687
73 pectus excavatum HP:0000767
74 pectus carinatum HP:0000768
75 muscular hypotonia HP:0001252
76 motor delay HP:0001270
77 absent speech HP:0001344
78 abnormality of the rib cage HP:0001547
79 ventricular septal defect HP:0001629
80 atria septal defect HP:0001631
81 pulmonic stenosis HP:0001642
82 patent ductus arteriosus HP:0001643
83 abnormality of metabolism/homeostasis HP:0001939
84 vomiting HP:0002013
85 hypoplasia of the corpus callosum HP:0002079
86 drooling HP:0002307
87 intellectual disability, moderate HP:0002342
88 supernumerary nipple HP:0002558
89 abdominal distention HP:0003270
90 abnormality of the abdominal wall HP:0004298
91 pulmonary artery stenosis HP:0004415
92 pulmonary artery sling HP:0004961
93 broad eyebrow HP:0011229
94 happy demeanor HP:0040082

UMLS symptoms related to Mowat-Wilson Syndrome:


constipation, drooling, seizures, vomiting

Drugs & Therapeutics for Mowat-Wilson Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Mowat-Wilson Syndrome


Cochrane evidence based reviews: 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 Syndrome25 23 ZEB2

Anatomical Context for Mowat-Wilson Syndrome

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MalaCards organs/tissues related to Mowat-Wilson Syndrome:

34
Eye, Heart, Kidney, Cerebellum, Testes

Animal Models for Mowat-Wilson Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Mowat-Wilson Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.1EDNRB, MBD5, MEF2C, ZEB2
2MP:00053718.7EDNRB, MBD5, MEF2C, NLRP3
3MP:00036317.3EDNRB, GEMIN2, KANSL1, MBD5, MEF2C, NLRP3

Publications for Mowat-Wilson Syndrome

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Articles related to Mowat-Wilson Syndrome:

(show top 50)    (show all 73)
idTitleAuthorsYear
1
Anaesthetic management of Mowat-Wilson syndrome. (27141118)
2016
2
Novel Zeb2 gene variation in the Mowat Wilson syndrome (MWS). (26852091)
2016
3
Sleep disturbance in Mowat-Wilson syndrome. (26686679)
2016
4
HIRSCHSPRUNG DISEASE ASSOCIATED WITH MOWAT-WILSON SYNDROME: REPORT OF A CASE. (25795985)
2015
5
Polymicrogyria in a 10-month-old boy with Mowat-Wilson syndrome. (26012591)
2015
6
Mowat-Wilson syndrome: neurological and molecular study in seven patients. (25608121)
2015
7
Psychopharmacological Management of Problem Behaviors in Mowat-Wilson Syndrome. (26402313)
2015
8
Hirschsprung's disease in children with Mowat-Wilson syndrome. (26156877)
2015
9
Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome. (25899569)
2015
10
De novo inbred heterozygous Zeb2/Sip1 mutant mice uniquely generated by germ-line conditional knockout exhibit craniofacial, callosal and behavioral defects associated with Mowat-Wilson syndrome. (26319231)
2015
11
Ocular phenotype of Mowat-Wilson syndrome in the first reported Cypriot patients: an under-recognized association. (24263623)
2014
12
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
13
ZEB2 Gene Mutation and Duplication of 22q11.23 in Mowat-Wilson Syndrome. (25028418)
2014
14
Mowat-Wilson syndrome associated with craniosynostosis. (24300291)
2014
15
The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations. (24715670)
2014
16
Hirschsprung's disease associated with Mowat-Wilson syndrome. (24827654)
2014
17
Mowat-Wilson syndrome: the first report of an association with central nervous system tumors. (24092421)
2013
18
Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype. (23322667)
2013
19
Mowat-Wilson Syndrome: Deafness in the First Egyptian Case Who Was Conceived by Intracytoplasmic Sperm Injection. (24282181)
2013
20
A novel long-range enhancer regulates postnatal expression of Zeb2: implications for Mowat-Wilson syndrome phenotypes. (23001561)
2012
21
Ophthalmologic abnormalities in Mowat-Wilson syndrome and a mutation in ZEB2. (22486326)
2012
22
Mowat-Wilson syndrome: the first clinical and molecular report of an indonesian patient. (23243526)
2012
23
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
24
Clinical utility gene card for: Mowat-Wilson syndrome. (21343952)
2011
25
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
26
Mowat-Wilson syndrome with associated dysphagia. (20101699)
2010
27
Second-trimester detection of Mowat-Wilson syndrome using comparative genomic hybridization microarray testing. (20093881)
2010
28
Supernumerary intestinal muscle coat in a patient with Hirschsprung disease/Mowat-Wilson syndrome. (20158378)
2010
29
Mowat-Wilson syndrome--a case report]. (19764599)
2009
30
Outcomes of Hirschsprung's disease associated with Mowat-Wilson syndrome. (19302864)
2009
31
Mowat-Wilson syndrome affecting 3 siblings. (18230842)
2008
32
Recurrence of Mowat-Wilson syndrome in siblings with a novel mutation in the ZEB2 gene. (19006215)
2008
33
Mowat-Wilson syndrome with craniosynostosis: a case report. (18076118)
2008
34
Mowat-Wilson syndrome: an underdiagnosed syndrome? (18445050)
2008
35
ZFHX1B mutations in patients with Mowat-Wilson syndrome. (17203459)
2007
36
Mowat-Wilson syndrome. (17958891)
2007
37
Neural crest-specific removal of Zfhx1b in mouse leads to a wide range of neurocristopathies reminiscent of Mowat-Wilson syndrome. (17478475)
2007
38
Mowat-Wilson syndrome in a Moroccan consanguineous family. (21957361)
2007
39
Pulmonary artery sling and congenital tracheal stenosis in another patient with Mowat-Wilson syndrome. (17567886)
2007
40
Atypical ZFHX1B mutation associated with a mild Mowat-Wilson syndrome phenotype. (16532472)
2006
41
A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype. (16688751)
2006
42
Clinical features and management issues in Mowat-Wilson syndrome. (17103451)
2006
43
Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation. (16088920)
2005
44
Variations in aganglionic segment length of the enteric neural plexus in Mowat-Wilson syndrome. (16150342)
2005
45
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
46
Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1. (15121779)
2004
47
Facial phenotype allows diagnosis of Mowat-Wilson syndrome in the absence of Hirschsprung disease. (14679597)
2004
48
Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity. (14757866)
2004
49
Mowat-Wilson syndrome. (12746390)
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:

68
id Symbol AA change Variation ID SNP ID
1ZEB2p.Arg953GlyVAR_027017
2ZEB2p.Gln1119ArgVAR_027018rs137852983

Clinvar genetic disease variations for Mowat-Wilson Syndrome:

5 (show all 86)
id Gene Variation Type Significance SNP ID Assembly Location
1ZEB2NM_014795.3(ZEB2): c.1956C> T (p.Tyr652=)single nucleotide variantPathogenicrs587784563GRCh38Chr 2, 144399231: 144399231
2ZEB2NM_014795.3(ZEB2): c.2501delA (p.Lys834Argfs)deletionPathogenicrs587784565GRCh38Chr 2, 144398686: 144398686
3ZEB2NM_014795.3(ZEB2): c.2761C> T (p.Arg921Ter)single nucleotide variantPathogenicrs587784566GRCh38Chr 2, 144398426: 144398426
4ZEB2NM_014795.3(ZEB2): c.550_568del19 (p.Ser184Argfs)deletionPathogenicrs587784568GRCh37Chr 2, 145162427: 145162445
5ZEB2NM_014795.3(ZEB2): c.823C> T (p.Gln275Ter)single nucleotide variantPathogenicrs587784570GRCh37Chr 2, 145158859: 145158859
6ZEB2NM_014795.3(ZEB2): c.904C> T (p.Arg302Ter)single nucleotide variantPathogenicrs587784571GRCh37Chr 2, 145158778: 145158778
7ZEB2NM_014795.3(ZEB2): c.3533delC (p.Thr1178Argfs)deletionPathogenicrs727504223GRCh37Chr 2, 145147130: 145147130
8ZEB2NM_014795.3(ZEB2): c.1876G> T (p.Gly626Ter)single nucleotide variantPathogenicrs727504224GRCh37Chr 2, 145156878: 145156878
9ZEB2NM_014795.3(ZEB2): c.1218delA (p.His407Thrfs)deletionPathogenicrs727504226GRCh37Chr 2, 145157536: 145157536
10ZEB2NM_014795.3(ZEB2): c.930C> A (p.Tyr310Ter)single nucleotide variantPathogenicrs6711223GRCh37Chr 2, 145157824: 145157824
11ZEB2NM_014795.3(ZEB2): c.304dupA (p.Ile102Asnfs)duplicationPathogenicrs786200997GRCh37Chr 2, 145187363: 145187363
12ZEB2NM_014795.3(ZEB2): c.280G> T (p.Glu94Ter)single nucleotide variantPathogenicrs727504228GRCh37Chr 2, 145187387: 145187387
13ZEB2NM_014795.3(ZEB2): c.289delT (p.Trp97Glyfs)deletionPathogenicrs727503784GRCh37Chr 2, 145187378: 145187378
14ZEB2NM_014795.3(ZEB2): c.59C> T (p.Pro20Leu)single nucleotide variantPathogenicrs730881206GRCh37Chr 2, 145274859: 145274859
15ZEB2NM_014795.3(ZEB2): c.997delA (p.Lys333Asnfs)deletionPathogenicrs730881208GRCh37Chr 2, 145157757: 145157757
16ZEB2NM_014795.3(ZEB2): c.1921delT (p.Ser641Leufs)deletionPathogenicrs730881209GRCh37Chr 2, 145156833: 145156833
17ZEB2NM_014795.3(ZEB2): c.2228_2229delCT (p.Ser743Tyrfs)deletionPathogenicrs730881211GRCh37Chr 2, 145156525: 145156526
18ZEB2NM_014795.3(ZEB2): c.3002delG (p.Cys1001Leufs)deletionPathogenicrs730881212GRCh37Chr 2, 145154044: 145154044
19ZEB2NM_014795.3(ZEB2): c.3195dupA (p.His1066Thrfs)duplicationPathogenicrs730881213GRCh37Chr 2, 145147468: 145147468
20ZEB2NM_014795.3(ZEB2): c.178_190delACGAGTCCAGCTAinsGTT (p.Thr60Valfs)indelPathogenicrs730881215GRCh37Chr 2, 145187477: 145187489
21ZEB2NM_014795.3(ZEB2): c.3086G> A (p.Cys1029Tyr)single nucleotide variantLikely pathogenicrs730881216GRCh38Chr 2, 144390010: 144390010
22ZEB2NM_014795.3(ZEB2): c.3073delA (p.Arg1025Aspfs)deletionPathogenicrs730881217GRCh37Chr 2, 145147590: 145147590
23ZEB2NM_014795.3(ZEB2): c.3499delA (p.Ser1167Valfs)deletionPathogenicrs730881218GRCh37Chr 2, 145147164: 145147164
24ZEB2NM_014795.3(ZEB2): c.1257delG (p.Gly421Glufs)deletionPathogenicrs786204801GRCh38Chr 2, 144399930: 144399930
25ZEB2NM_014795.3(ZEB2): c.20_21insT (p.Asp8Glyfs)insertionPathogenicrs786204802GRCh38Chr 2, 144517330: 144517331
26ZEB2NM_014795.3(ZEB2): c.1944delC (p.Ile649Serfs)deletionPathogenicrs786204803GRCh38Chr 2, 144399243: 144399243
27ZEB2NM_014795.3(ZEB2): c.2687_2688dupCA (p.Ala897Glnfs)duplicationPathogenicrs786204804GRCh38Chr 2, 144398499: 144398500
28ZEB2NM_014795.3(ZEB2)indelPathogenicrs786204805GRCh38Chr 2, 144400005: 144400015
29ZEB2NM_014795.3(ZEB2): c.404-?_(*5076_?)deldeletionPathogenic
30ZEB2NM_014795.3(ZEB2): c.660C> G (p.Tyr220Ter)single nucleotide variantPathogenicrs111724246GRCh38Chr 2, 144404063: 144404063
31ZEB2NM_014795.3(ZEB2): c.(?_-522)_(*5076_?)deldeletionPathogenic
32ZEB2NM_014795.3(ZEB2): c.1541_1542insA (p.Val515Glyfs)insertionPathogenicrs398124275GRCh38Chr 2, 144399645: 144399646
33ZEB2NM_014795.3(ZEB2): c.703delG (p.Glu235Argfs)deletionPathogenicrs786204806GRCh38Chr 2, 144404020: 144404020
34ZEB2NM_014795.3(ZEB2): c.1277T> G (p.Leu426Ter)single nucleotide variantPathogenicrs786204807GRCh38Chr 2, 144399910: 144399910
35ZEB2NM_014795.3(ZEB2): c.1749C> A (p.Cys583Ter)single nucleotide variantPathogenicrs786204808GRCh38Chr 2, 144399438: 144399438
36ZEB2NM_014795.3(ZEB2): c.1754delT (p.Phe585Serfs)deletionPathogenicrs786204809GRCh38Chr 2, 144399433: 144399433
37ZEB2NM_014795.3(ZEB2): c.2179_2180delTT (p.Leu727Ilefs)deletionPathogenicrs786204810GRCh38Chr 2, 144399007: 144399008
38ZEB2NM_014795.3(ZEB2): c.1884delT (p.Phe628Leufs)deletionPathogenicrs786204811GRCh38Chr 2, 144399303: 144399303
39ZEB2NM_014795.3(ZEB2): c.227_233delAAGCTCT (p.Gln76Argfs)deletionPathogenicrs786204812GRCh38Chr 2, 144429867: 144429873
40ZEB2NM_014795.3(ZEB2): c.73+1delGdeletionPathogenicrs786204813GRCh38Chr 2, 144517277: 144517277
41ZEB2NM_014795.3(ZEB2): c.1416_1420delCAGGC (p.Arg473Lysfs)deletionPathogenicrs786204814GRCh38Chr 2, 144399767: 144399771
42ZEB2NM_014795.3(ZEB2): c.1027C> T (p.Arg343Ter)single nucleotide variantPathogenicrs786204815GRCh38Chr 2, 144400160: 144400160
43ZEB2NM_014795.3(ZEB2): c.3391_3400delCCGAGGGATG (p.Pro1131Alafs)deletionPathogenicrs786204816GRCh38Chr 2, 144389696: 144389705
44ZEB2NM_014795.3(ZEB2): c.460delG (p.Glu154Argfs)deletionPathogenicrs786204817GRCh38Chr 2, 144404968: 144404968
45ZEB2NM_014795.3(ZEB2): c.3068-?_(*5076_?)deldeletionPathogenic
46ZEB2NM_014795.3(ZEB2): c.1966_1967delAT (p.Met656Valfs)deletionPathogenicrs786204818GRCh38Chr 2, 144399220: 144399221
47ZEB2NM_014795.3(ZEB2): c.1687delA (p.Ile563Terfs)deletionPathogenicrs786204819GRCh38Chr 2, 144399500: 144399500
48ZEB2NM_014795.3(ZEB2): c.1653delC (p.Ser552Valfs)deletionPathogenicrs786204820GRCh38Chr 2, 144399534: 144399534
49ZEB2NM_014795.3(ZEB2): c.2177_2180delCTTT (p.Ser726Tyrfs)deletionPathogenicrs786204821GRCh38Chr 2, 144399007: 144399010
50ZEB2NM_014795.3(ZEB2): c.980C> A (p.Ser327Ter)single nucleotide variantPathogenicrs756686919GRCh38Chr 2, 144400207: 144400207
51ZEB2NM_014795.3(ZEB2): c.2701C> T (p.Gln901Ter)single nucleotide variantPathogenicrs794727924GRCh37Chr 2, 145156053: 145156053
52ZEB2NM_014795.3(ZEB2): c.1106T> A (p.Leu369Ter)single nucleotide variantPathogenicrs797046117GRCh37Chr 2, 145157648: 145157648
53ZEB2NM_014795.3(ZEB2): c.2061delT (p.Phe687Leufs)deletionPathogenicrs797046118GRCh38Chr 2, 144399126: 144399126
54ZEB2NM_014795.3(ZEB2): c.2404_2407delACTC (p.Thr802Glnfs)deletionPathogenicrs797046119GRCh37Chr 2, 145156347: 145156350
55ZEB2NM_014795.3(ZEB2): c.2894T> A (p.Leu965Ter)single nucleotide variantPathogenicrs797046120GRCh38Chr 2, 144396585: 144396585
56ZEB2NM_014795.3(ZEB2): c.3137C> A (p.Ser1046Ter)single nucleotide variantPathogenicrs797046121GRCh37Chr 2, 145147526: 145147526
57ZEB2NM_014795.3(ZEB2): c.674C> A (p.Ser225Ter)single nucleotide variantPathogenicrs797046122GRCh38Chr 2, 144404049: 144404049
58ZEB2NM_014795.3(ZEB2): c.2932G> T (p.Asp978Tyr)single nucleotide variantLikely pathogenicrs863224942GRCh37Chr 2, 145154114: 145154114
59ZEB2NM_014795.3(ZEB2): c.2180delT (p.Leu727Tyrfs)deletionLikely pathogenicrs863224943GRCh37Chr 2, 145156574: 145156574
60ZEB2NM_014795.3(ZEB2): c.2672_2678delCCAAACC (p.Ala891Valfs)deletionPathogenicrs878855329GRCh37Chr 2, 145156076: 145156082
61ZEB2NM_014795.3(ZEB2): c.1645A> T (p.Arg549Ter)single nucleotide variantPathogenicrs137852980GRCh37Chr 2, 145157109: 145157109
62ZEB2NM_014795.3(ZEB2): c.2083C> T (p.Arg695Ter)single nucleotide variantPathogenicrs137852981GRCh37Chr 2, 145156671: 145156671
63ZEB2NM_014795.3(ZEB2): c.1173_1176delAACA (p.Thr392Asnfs)deletionPathogenicrs587776603GRCh37Chr 2, 145157578: 145157581
64ZEB2NM_014795.3(ZEB2): c.1426dupA (p.Met476Asnfs)duplicationPathogenicrs587776604GRCh37Chr 2, 145157328: 145157328
65ZEB2NM_014795.3(ZEB2): c.760_761dupAC (p.Gln255Profs)duplicationPathogenicrs587776605GRCh37Chr 2, 145161529: 145161530
66ZEB2NM_014795.3(ZEB2): c.2453dupT (p.Leu818Phefs)duplicationPathogenicrs587776606GRCh37Chr 2, 145156301: 145156301
67ZEB2NM_014795.3(ZEB2): c.1892delA (p.Asn631Ilefs)deletionPathogenicrs587776607GRCh37Chr 2, 145156862: 145156862
68ZEB2NM_014795.3(ZEB2): c.553_554insTG (p.Arg185Leufs)insertionPathogenicrs587776608GRCh37Chr 2, 145162441: 145162442
69ZEB2NM_014795.3(ZEB2): c.2555C> G (p.Ser852Ter)single nucleotide variantPathogenicrs137852982GRCh37Chr 2, 145156199: 145156199
70ZEB2NM_014795.3(ZEB2): c.3566_3567dupCC (p.Met1190Profs)duplicationPathogenicrs587776609GRCh37Chr 2, 145147096: 145147097
71NC_000002.12deletionPathogenicGRCh38Chr 2, 144114719: 144681958
72ZEB2NM_014795.3(ZEB2): c.1862delT (p.Val621Alafs)deletionPathogenicrs587776611GRCh37Chr 2, 145156892: 145156892
73ZEB2NM_014795.3(ZEB2): c.-69-1G> Asingle nucleotide variantPathogenicrs587776612GRCh37Chr 2, 145274987: 145274987
74ZEB2NM_014795.3(ZEB2): c.3356A> G (p.Gln1119Arg)single nucleotide variantPathogenicrs137852983GRCh37Chr 2, 145147307: 145147307
75ZEB2NM_014795.3(ZEB2): c.3211T> C (p.Ser1071Pro)single nucleotide variantPathogenicrs397515448GRCh37Chr 2, 145147452: 145147452
76ZEB2NM_014795.3(ZEB2): c.3134A> G (p.His1045Arg)single nucleotide variantPathogenicrs397515449GRCh37Chr 2, 145147529: 145147529
77ZEB2NM_014795.3(ZEB2): c.1381C> T (p.Gln461Ter)single nucleotide variantPathogenicrs398124274GRCh37Chr 2, 145157373: 145157373
78ZEB2NM_014795.3(ZEB2): c.1541dupC (p.Val515Glyfs)duplicationPathogenicrs398124275GRCh37Chr 2, 145157213: 145157213
79ZEB2NM_014795.3(ZEB2): c.1586delC (p.Thr529Serfs)deletionPathogenicrs398124276GRCh37Chr 2, 145157168: 145157168
80ZEB2NM_014795.3(ZEB2): c.2032delT (p.Ser678Profs)deletionPathogenicrs398124277GRCh37Chr 2, 145156722: 145156722
81ZEB2NM_014795.3(ZEB2): c.2174_2177dupACTC (p.Leu728Phefs)duplicationPathogenicrs398124278GRCh37Chr 2, 145156577: 145156580
82ZEB2NM_014795.3(ZEB2): c.3359_3364delGGTACTinsTAATG (p.Gly1120Valfs)indelPathogenicrs398124280GRCh37Chr 2, 145147299: 145147304
83ZEB2NM_014795.3(ZEB2): c.643_659del17 (p.Tyr215Glnfs)deletionPathogenicrs398124281GRCh37Chr 2, 145161631: 145161647
84ZEB2NM_014795.3(ZEB2): c.73+2T> Csingle nucleotide variantPathogenicrs398124282GRCh37Chr 2, 145274843: 145274843
85ZEB2NM_014795.3(ZEB2): c.782_783delTG (p.Val261Aspfs)deletionPathogenicrs398124283GRCh37Chr 2, 145161507: 145161508
86ZEB2NM_014795.3(ZEB2): c.805C> T (p.Gln269Ter)single nucleotide variantPathogenicrs398124284GRCh37Chr 2, 145161485: 145161485

Copy number variations for Mowat-Wilson Syndrome from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1149721291200000148400000Copy numberZFHX1BMowat-Wilson syndrome

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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GO Terms for genes affiliated with Mowat-Wilson Syndrome

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Biological processes related to Mowat-Wilson Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1neural crest cell migrationGO:000175510.3EDNRB, ZEB2
2developmental pigmentationGO:004806610.2EDNRB, ZEB2
3melanocyte differentiationGO:003031810.1EDNRB, MEF2C
4cellular response to lipopolysaccharideGO:00712229.6EDNRB, MEF2C, NLRP3
5nervous system developmentGO:00073998.9EDNRB, MBD5, MEF2C, ZEB2

Molecular functions related to Mowat-Wilson Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific bindingGO:00012059.7MEF2C, ZEB2

Sources for Mowat-Wilson Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet