MCID: MWT001
MIFTS: 46

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 51 11 70 23 47 24 25 53 69 26 12 38 13 67
Hirschsprung Disease-Mental Retardation Syndrome 24 25 69
Hirschsprung Disease-Intellectual Disability Syndrome 23 53
Hirschsprung Disease Mental Retardation Syndrome 11 47
Microcephaly, Mental Retardation, and Distinct Facial Features, with or Without Hirschsprung Disease 25
 
Microcephaly, Mental Retardation, and Distinct Facial Featrues, with or Without Hirschprung Disease 11
Mental Retardation, Microcephaly, and Distinct Facial Features with or Without Hirschsprung Disease 47
Microcephaly, Mental Retardation, Distinct Facial Features with or Without Hirschsprung Disease 69
Mows 69
Mws 25

Characteristics:

Orphanet epidemiological data:

53
mowat-wilson syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal

HPO:

63
mowat-wilson syndrome:
Inheritance: autosomal dominant inheritance

GeneReviews:

23
Penetrance: penetrance appears to be complete...


Classifications:



External Ids:

OMIM51 235730
Disease Ontology11 DOID:0060485
NCIt44 C74999
Orphanet53 ORPHA2152
SNOMED-CT61 703535000
MESH via Orphanet39 C536990
UMLS via Orphanet68 C1856113
ICD10 via Orphanet30 Q43.1
MedGen36 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 has material basis in 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.

UniProtKB/Swiss-Prot:69 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:25 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:51 Mowat-Wilson syndrome is an autosomal dominant complex developmental disorder; individuals with functional null... (235730) more...

NIH Rare Diseases:47 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

GeneReviews 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

Human phenotypes related to Mowat-Wilson Syndrome:

 63 53 (show all 86)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability63 obligate (100%) HP:0001249
2 microcephaly63 53 hallmark (90%) Very frequent (99-80%) HP:0000252
3 high forehead63 53 hallmark (90%) Very frequent (99-80%) HP:0000348
4 deeply set eye63 53 hallmark (90%) Very frequent (99-80%) HP:0000490
5 abnormality of the eyebrow63 53 hallmark (90%) Very frequent (99-80%) HP:0000534
6 seizures63 53 hallmark (90%) Frequent (79-30%) HP:0001250
7 frontal bossing63 53 hallmark (90%) Very frequent (99-80%) HP:0002007
8 external ear malformation63 53 hallmark (90%) Very frequent (99-80%) HP:0008572
9 large earlobe63 53 hallmark (90%) Very frequent (99-80%) HP:0009748
10 cognitive impairment63 hallmark (90%) HP:0100543
11 aganglionic megacolon63 53 62% Frequent (79-30%) HP:0002251
12 cryptorchidism63 53 typical (50%) Frequent (79-30%) HP:0000028
13 open mouth63 53 typical (50%) Frequent (79-30%) HP:0000194
14 everted lower lip vermilion63 53 typical (50%) Frequent (79-30%) HP:0000232
15 epicanthus63 53 typical (50%) Frequent (79-30%) HP:0000286
16 pointed chin63 53 typical (50%) Occasional (29-5%) HP:0000307
17 hypertelorism63 53 typical (50%) Frequent (79-30%) HP:0000316
18 low-set, posteriorly rotated ears63 typical (50%) HP:0000368
19 cupped ear63 typical (50%) HP:0000378
20 wide nasal bridge63 53 typical (50%) Occasional (29-5%) HP:0000431
21 downslanted palpebral fissures63 typical (50%) HP:0000494
22 ptosis63 typical (50%) HP:0000508
23 esotropia63 typical (50%) HP:0000565
24 iris coloboma63 53 typical (50%) Occasional (29-5%) HP:0000612
25 tapered finger63 53 typical (50%) Frequent (79-30%) HP:0001182
26 muscular hypotonia63 53 typical (50%) Frequent (79-30%) HP:0001252
27 constipation63 53 typical (50%) Occasional (29-5%) HP:0002019
28 fine hair63 53 typical (50%) Frequent (79-30%) HP:0002213
29 short stature63 53 typical (50%) Frequent (79-30%) HP:0004322
30 prominent nasal tip63 typical (50%) HP:0005274
31 aplasia/hypoplasia of the corpus callosum63 53 typical (50%) Frequent (79-30%) HP:0007370
32 low hanging columella63 typical (50%) HP:0009765
33 uplifted earlobe63 53 typical (50%) Very frequent (99-80%) HP:0009909
34 broad columella63 53 typical (50%) Frequent (79-30%) HP:0010761
35 displacement of the external urethral meatus63 typical (50%) HP:0100627
36 agenesis of corpus callosum63 42% HP:0001274
37 hypospadias63 53 frequent (33%) Frequent (79-30%) HP:0000047
38 bifid scrotum63 53 frequent (33%) Occasional (29-5%) HP:0000048
39 generalized muscle hypertrophy63 frequent (33%) HP:0003720
40 vesicoureteral reflux63 53 occasional (7.5%) Occasional (29-5%) HP:0000076
41 cleft palate63 53 occasional (7.5%) Occasional (29-5%) HP:0000175
42 submucous cleft hard palate63 occasional (7.5%) HP:0000176
43 cleft upper lip63 53 occasional (7.5%) Occasional (29-5%) HP:0000204
44 strabismus63 53 occasional (7.5%) Occasional (29-5%) HP:0000486
45 nystagmus63 53 occasional (7.5%) Occasional (29-5%) HP:0000639
46 ventricular septal defect63 53 occasional (7.5%) Occasional (29-5%) HP:0001629
47 tetralogy of fallot63 53 occasional (7.5%) Occasional (29-5%) HP:0001636
48 patent ductus arteriosus63 53 occasional (7.5%) Occasional (29-5%) HP:0001643
49 hallux valgus63 53 occasional (7.5%) Occasional (29-5%) HP:0001822
50 preaxial foot polydactyly63 occasional (7.5%) HP:0001841
51 deep plantar creases63 53 occasional (7.5%) Occasional (29-5%) HP:0001869
52 ventriculomegaly63 53 occasional (7.5%) Occasional (29-5%) HP:0002119
53 cerebral cortical atrophy63 53 occasional (7.5%) Occasional (29-5%) HP:0002120
54 supernumerary nipple63 53 occasional (7.5%) Occasional (29-5%) HP:0002558
55 finger syndactyly63 53 occasional (7.5%) Occasional (29-5%) HP:0006101
56 aplasia/hypoplasia of the cerebellum63 53 occasional (7.5%) Occasional (29-5%) HP:0007360
57 aplasia/hypoplasia affecting the eye63 occasional (7.5%) HP:0008056
58 camptodactyly of finger63 53 occasional (7.5%) Occasional (29-5%) HP:0100490
59 abnormal localization of kidney63 occasional (7.5%) HP:0100542
60 delayed eruption of teeth63 HP:0000684
61 widely spaced teeth63 HP:0000687
62 pectus excavatum63 HP:0000767
63 pectus carinatum63 HP:0000768
64 motor delay63 HP:0001270
65 absent speech63 HP:0001344
66 abnormality of the rib cage63 HP:0001547
67 atria septal defect63 HP:0001631
68 pulmonic stenosis63 HP:0001642
69 abnormality of metabolism/homeostasis63 HP:0001939
70 vomiting63 HP:0002013
71 hypoplasia of the corpus callosum63 HP:0002079
72 drooling63 HP:0002307
73 intellectual disability, moderate63 HP:0002342
74 abdominal distention63 HP:0003270
75 abnormality of the abdominal wall63 HP:0004298
76 pulmonary artery stenosis63 HP:0004415
77 pulmonary artery sling63 HP:0004961
78 broad eyebrow63 HP:0011229
79 happy demeanor63 HP:0040082
80 ectopic kidney53 Occasional (29-5%)
81 hydronephrosis53 Occasional (29-5%)
82 high palate53 Frequent (79-30%)
83 posteriorly rotated ears53 Frequent (79-30%)
84 microphthalmia53 Occasional (29-5%)
85 malformation of the heart and great vessels53 Frequent (79-30%)
86 broad hallux phalanx53 Occasional (29-5%)

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 Syndrome26 24 ZEB2

Anatomical Context for Mowat-Wilson Syndrome

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MalaCards organs/tissues related to Mowat-Wilson Syndrome:

35
Eye, Heart, Kidney, Cerebellum, Testes

Animal Models for Mowat-Wilson Syndrome or affiliated genes

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Publications for Mowat-Wilson Syndrome

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Articles related to Mowat-Wilson Syndrome:

(show top 49)    (show all 76)
idTitleAuthorsYear
1
Difficult airway in Mowat-Wilson syndrome. (27687363)
2016
2
Anaesthetic management of Mowat-Wilson syndrome. (27141118)
2016
3
Novel Zeb2 gene variation in the Mowat Wilson syndrome (MWS). (26852091)
2016
4
Sleep disturbance in Mowat-Wilson syndrome. (26686679)
2016
5
HIRSCHSPRUNG DISEASE ASSOCIATED WITH MOWAT-WILSON SYNDROME: REPORT OF A CASE. (25795985)
2015
6
Polymicrogyria in a 10-month-old boy with Mowat-Wilson syndrome. (26012591)
2015
7
Mowat-Wilson syndrome: neurological and molecular study in seven patients. (25608121)
2015
8
Psychopharmacological Management of Problem Behaviors in Mowat-Wilson Syndrome. (26402313)
2015
9
Hirschsprung's disease in children with Mowat-Wilson syndrome. (26156877)
2015
10
Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome. (25899569)
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
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
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
45
Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1. (15121779)
2004
46
Facial phenotype allows diagnosis of Mowat-Wilson syndrome in the absence of Hirschsprung disease. (14679597)
2004
47
Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity. (14757866)
2004
48
Mowat-Wilson syndrome. (12746390)
2003
49
Mowat-Wilson Syndrome (20301585)
1993

Variations for Mowat-Wilson Syndrome

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

69
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 88)
id Gene Variation Type Significance SNP ID Assembly Location
1ZEB2NM_014795.3(ZEB2): c.1956C> T (p.Tyr652=)SNVPathogenicrs587784563GRCh38Chr 2, 144399231: 144399231
2ZEB2NM_014795.3(ZEB2): c.2501delA (p.Lys834Argfs)deletionPathogenicrs587784565GRCh38Chr 2, 144398686: 144398686
3ZEB2NM_014795.3(ZEB2): c.2761C> T (p.Arg921Ter)SNVPathogenicrs587784566GRCh38Chr 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)SNVPathogenicrs587784570GRCh37Chr 2, 145158859: 145158859
6ZEB2NM_014795.3(ZEB2): c.904C> T (p.Arg302Ter)SNVPathogenicrs587784571GRCh37Chr 2, 145158778: 145158778
7ZEB2NM_014795.3(ZEB2): c.3533delC (p.Thr1178Argfs)deletionPathogenicrs727504223GRCh37Chr 2, 145147130: 145147130
8ZEB2NM_014795.3(ZEB2): c.1876G> T (p.Gly626Ter)SNVPathogenicrs727504224GRCh37Chr 2, 145156878: 145156878
9ZEB2NM_014795.3(ZEB2): c.1218delA (p.His407Thrfs)deletionPathogenicrs727504226GRCh37Chr 2, 145157536: 145157536
10ZEB2NM_014795.3(ZEB2): c.930C> A (p.Tyr310Ter)SNVPathogenicrs6711223GRCh37Chr 2, 145157824: 145157824
11ZEB2NM_014795.3(ZEB2): c.304dupA (p.Ile102Asnfs)duplicationPathogenicrs786200997GRCh37Chr 2, 145187363: 145187363
12ZEB2NM_014795.3(ZEB2): c.280G> T (p.Glu94Ter)SNVPathogenicrs727504228GRCh38Chr 2, 144429820: 144429820
13ZEB2NM_014795.3(ZEB2): c.289delT (p.Trp97Glyfs)deletionPathogenicrs727503784GRCh37Chr 2, 145187378: 145187378
14ZEB2NM_014795.3(ZEB2): c.59C> T (p.Pro20Leu)SNVPathogenicrs730881206GRCh37Chr 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)indelPathogenicrs730881215GRCh38Chr 2, 144429910: 144429922
21ZEB2NM_014795.3(ZEB2): c.3086G> A (p.Cys1029Tyr)SNVLikely pathogenicrs730881216GRCh37Chr 2, 145147577: 145147577
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_?)deldeletionPathogenicChr na, -1: -1
30ZEB2NM_014795.3(ZEB2): c.660C> G (p.Tyr220Ter)SNVPathogenicrs111724246GRCh38Chr 2, 144404063: 144404063
31ZEB2NM_014795.3(ZEB2): c.(?_-522)_(*5076_?)deldeletionPathogenicChr na, -1: -1
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)SNVPathogenicrs786204807GRCh38Chr 2, 144399910: 144399910
35ZEB2NM_014795.3(ZEB2): c.1749C> A (p.Cys583Ter)SNVPathogenicrs786204808GRCh38Chr 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)SNVPathogenicrs786204815GRCh38Chr 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_?)deldeletionPathogenicChr na, -1: -1
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)SNVPathogenicrs756686919GRCh38Chr 2, 144400207: 144400207
51ZEB2NM_014795.3(ZEB2): c.2701C> T (p.Gln901Ter)SNVPathogenicrs794727924GRCh37Chr 2, 145156053: 145156053
52ZEB2NM_014795.3(ZEB2): c.1106T> A (p.Leu369Ter)SNVPathogenicrs797046117GRCh37Chr 2, 145157648: 145157648
53ZEB2NM_014795.3(ZEB2): c.2061delT (p.Phe687Leufs)deletionPathogenicrs797046118GRCh37Chr 2, 145156693: 145156693
54ZEB2NM_014795.3(ZEB2): c.2404_2407delACTC (p.Thr802Glnfs)deletionPathogenicrs797046119GRCh37Chr 2, 145156347: 145156350
55ZEB2NM_014795.3(ZEB2): c.2894T> A (p.Leu965Ter)SNVPathogenicrs797046120GRCh37Chr 2, 145154152: 145154152
56ZEB2NM_014795.3(ZEB2): c.3137C> A (p.Ser1046Ter)SNVPathogenicrs797046121GRCh37Chr 2, 145147526: 145147526
57ZEB2NM_014795.3(ZEB2): c.674C> A (p.Ser225Ter)SNVPathogenicrs797046122GRCh37Chr 2, 145161616: 145161616
58ZEB2NM_014795.3(ZEB2): c.2932G> T (p.Asp978Tyr)SNVLikely pathogenicrs863224942GRCh38Chr 2, 144396547: 144396547
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.1102C> T (p.Gln368Ter)SNVPathogenicrs886041338GRCh37Chr 2, 145157652: 145157652
62ZEB2NM_014795.3(ZEB2): c.3241T> A (p.Cys1081Ser)SNVLikely pathogenicrs886044396GRCh37Chr 2, 145147422: 145147422
63ZEB2NM_014795.3(ZEB2): c.1645A> T (p.Arg549Ter)SNVPathogenicrs137852980GRCh37Chr 2, 145157109: 145157109
64ZEB2NM_014795.3(ZEB2): c.2083C> T (p.Arg695Ter)SNVPathogenicrs137852981GRCh37Chr 2, 145156671: 145156671
65ZEB2NM_014795.3(ZEB2): c.1173_1176delAACA (p.Thr392Asnfs)deletionPathogenicrs587776603GRCh37Chr 2, 145157578: 145157581
66ZEB2NM_014795.3(ZEB2): c.1426dupA (p.Met476Asnfs)duplicationPathogenicrs587776604GRCh37Chr 2, 145157328: 145157328
67ZEB2NM_014795.3(ZEB2): c.760_761dupAC (p.Gln255Profs)duplicationPathogenicrs587776605GRCh38Chr 2, 144403962: 144403963
68ZEB2NM_014795.3(ZEB2): c.2453dupT (p.Leu818Phefs)duplicationPathogenicrs587776606GRCh37Chr 2, 145156301: 145156301
69ZEB2NM_014795.3(ZEB2): c.1892delA (p.Asn631Ilefs)deletionPathogenicrs587776607GRCh37Chr 2, 145156862: 145156862
70ZEB2NM_014795.3(ZEB2): c.553_554insTG (p.Arg185Leufs)insertionPathogenicrs587776608GRCh37Chr 2, 145162441: 145162442
71ZEB2NM_014795.3(ZEB2): c.2555C> G (p.Ser852Ter)SNVPathogenicrs137852982GRCh37Chr 2, 145156199: 145156199
72ZEB2NM_014795.3(ZEB2): c.3566_3567dupCC (p.Met1190Profs)duplicationPathogenicrs587776609GRCh37Chr 2, 145147096: 145147097
73ZEB2NC_000002.12deletionPathogenicGRCh38Chr 2, 144114719: 144681958
74ZEB2NM_014795.3(ZEB2): c.1862delT (p.Val621Alafs)deletionPathogenicrs587776611GRCh37Chr 2, 145156892: 145156892
75ZEB2NM_014795.3(ZEB2): c.-69-1G> ASNVPathogenicrs587776612GRCh37Chr 2, 145274987: 145274987
76ZEB2NM_014795.3(ZEB2): c.3356A> G (p.Gln1119Arg)SNVPathogenicrs137852983GRCh37Chr 2, 145147307: 145147307
77ZEB2NM_014795.3(ZEB2): c.3211T> C (p.Ser1071Pro)SNVPathogenicrs397515448GRCh37Chr 2, 145147452: 145147452
78ZEB2NM_014795.3(ZEB2): c.3134A> G (p.His1045Arg)SNVPathogenicrs397515449GRCh37Chr 2, 145147529: 145147529
79ZEB2NM_014795.3(ZEB2): c.1381C> T (p.Gln461Ter)SNVPathogenicrs398124274GRCh37Chr 2, 145157373: 145157373
80ZEB2NM_014795.3(ZEB2): c.1541dupC (p.Val515Glyfs)duplicationPathogenicrs398124275GRCh37Chr 2, 145157213: 145157213
81ZEB2NM_014795.3(ZEB2): c.1586delC (p.Thr529Serfs)deletionPathogenicrs398124276GRCh37Chr 2, 145157168: 145157168
82ZEB2NM_014795.3(ZEB2): c.2032delT (p.Ser678Profs)deletionPathogenicrs398124277GRCh37Chr 2, 145156722: 145156722
83ZEB2NM_014795.3(ZEB2): c.2174_2177dupACTC (p.Leu728Phefs)duplicationPathogenicrs398124278GRCh37Chr 2, 145156577: 145156580
84ZEB2NM_014795.3(ZEB2): c.3359_3364delGGTACTinsTAATG (p.Gly1120Valfs)indelPathogenicrs398124280GRCh37Chr 2, 145147299: 145147304
85ZEB2NM_014795.3(ZEB2): c.643_659del17 (p.Tyr215Glnfs)deletionPathogenicrs398124281GRCh37Chr 2, 145161631: 145161647
86ZEB2NM_014795.3(ZEB2): c.73+2T> CSNVPathogenicrs398124282GRCh37Chr 2, 145274843: 145274843
87ZEB2NM_014795.3(ZEB2): c.782_783delTG (p.Val261Aspfs)deletionPathogenicrs398124283GRCh37Chr 2, 145161507: 145161508
88ZEB2NM_014795.3(ZEB2): c.805C> T (p.Gln269Ter)SNVPathogenicrs398124284GRCh37Chr 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:000175510.2EDNRB, ZEB2
2developmental pigmentationGO:004806610.1EDNRB, ZEB2
3cellular response to lipopolysaccharideGO:007122210.0EDNRB, NLRP3
4nervous system developmentGO:00073999.1EDNRB, MBD5, ZEB2

Sources for Mowat-Wilson Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet