MCID: MWT001
MIFTS: 47

Mowat-Wilson Syndrome malady

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

Aliases & Classifications for Mowat-Wilson Syndrome

About this section

Aliases & Descriptions for Mowat-Wilson Syndrome:

Name: Mowat-Wilson Syndrome 49 10 11 68 21 45 22 23 12 51 67 36 24 65
Hirschsprung Disease-Mental Retardation Syndrome 22 23 67
Hirschsprung Disease-Intellectual Disability Syndrome 21 51
Hirschsprung Disease Mental Retardation Syndrome 10 45
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 45
Microcephaly, Mental Retardation, and Distinct Facial Featrues, with or Without Hirschprung Disease 10
Microcephaly, Mental Retardation, Distinct Facial Features with or Without Hirschsprung Disease 67
Mows 67
Mws 23

Characteristics:

Orphanet epidemiological data:

51
mowat-wilson syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal

HPO:

61
mowat-wilson syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 235730
Disease Ontology10 DOID:0060485
ICD1027 Q43.1
Orphanet51 2152
ICD10 via Orphanet28 Q43.1
MESH via Orphanet37 C536990
UMLS via Orphanet66 C1856113
MedGen34 C1856113
UMLS65 C1856113

Summaries for Mowat-Wilson Syndrome

About this section
Disease Ontology:10 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, cognitive impairment and large earlobe. 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 phenotype nervous system.

NIH Rare Diseases:45 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:67 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: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:49 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

About this section

Graphical network of the top 20 diseases related to Mowat-Wilson Syndrome:



Diseases related to mowat-wilson syndrome

Symptoms for Mowat-Wilson Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

235730

Clinical features from OMIM:

235730

Symptoms:

 51 (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 cognitive impairment hallmark (90%) HP:0100543
3 large earlobe hallmark (90%) HP:0009748
4 external ear malformation hallmark (90%) HP:0008572
5 frontal bossing hallmark (90%) HP:0002007
6 seizures hallmark (90%) HP:0001250
7 abnormality of the eyebrow hallmark (90%) HP:0000534
8 deeply set eye hallmark (90%) HP:0000490
9 high forehead hallmark (90%) HP:0000348
10 microcephaly hallmark (90%) HP:0000252
11 microcephaly 84% HP:0000252
12 aganglionic megacolon 62% HP:0002251
13 displacement of the external urethral meatus typical (50%) HP:0100627
14 broad columella typical (50%) HP:0010761
15 uplifted earlobe typical (50%) HP:0009909
16 low hanging columella typical (50%) HP:0009765
17 large earlobe typical (50%) HP:0009748
18 aplasia/hypoplasia of the corpus callosum typical (50%) HP:0007370
19 prominent nasal tip typical (50%) HP:0005274
20 short stature typical (50%) HP:0004322
21 aganglionic megacolon typical (50%) HP:0002251
22 fine hair typical (50%) HP:0002213
23 constipation typical (50%) HP:0002019
24 muscular hypotonia typical (50%) HP:0001252
25 seizures typical (50%) HP:0001250
26 tapered finger typical (50%) HP:0001182
27 iris coloboma typical (50%) HP:0000612
28 esotropia typical (50%) HP:0000565
29 ptosis typical (50%) HP:0000508
30 downslanted palpebral fissures typical (50%) HP:0000494
31 deeply set eye typical (50%) HP:0000490
32 wide nasal bridge typical (50%) HP:0000431
33 cupped ear typical (50%) HP:0000378
34 low-set, posteriorly rotated ears typical (50%) HP:0000368
35 hypertelorism typical (50%) HP:0000316
36 pointed chin typical (50%) HP:0000307
37 epicanthus typical (50%) HP:0000286
38 everted lower lip vermilion typical (50%) HP:0000232
39 open mouth typical (50%) HP:0000194
40 cryptorchidism typical (50%) HP:0000028
41 agenesis of corpus callosum 42% HP:0001274
42 generalized muscle hypertrophy frequent (33%) HP:0003720
43 aganglionic megacolon frequent (33%) HP:0002251
44 bifid scrotum frequent (33%) HP:0000048
45 hypospadias frequent (33%) HP:0000047
46 cryptorchidism frequent (33%) HP:0000028
47 abnormal localization of kidney occasional (7.5%) HP:0100542
48 camptodactyly of finger occasional (7.5%) HP:0100490
49 aplasia/hypoplasia affecting the eye occasional (7.5%) HP:0008056
50 aplasia/hypoplasia of the cerebellum occasional (7.5%) HP:0007360
51 finger syndactyly occasional (7.5%) HP:0006101
52 supernumerary nipple occasional (7.5%) HP:0002558
53 cerebral cortical atrophy occasional (7.5%) HP:0002120
54 ventriculomegaly occasional (7.5%) HP:0002119
55 constipation occasional (7.5%) HP:0002019
56 deep plantar creases occasional (7.5%) HP:0001869
57 preaxial foot polydactyly occasional (7.5%) HP:0001841
58 hallux valgus occasional (7.5%) HP:0001822
59 patent ductus arteriosus occasional (7.5%) HP:0001643
60 tetralogy of fallot occasional (7.5%) HP:0001636
61 ventricular septal defect occasional (7.5%) HP:0001629
62 nystagmus occasional (7.5%) HP:0000639
63 iris coloboma occasional (7.5%) HP:0000612
64 strabismus occasional (7.5%) HP:0000486
65 pointed chin occasional (7.5%) HP:0000307
66 cleft upper lip occasional (7.5%) HP:0000204
67 submucous cleft hard palate occasional (7.5%) HP:0000176
68 cleft palate occasional (7.5%) HP:0000175
69 vesicoureteral reflux occasional (7.5%) HP:0000076
70 bifid scrotum occasional (7.5%) HP:0000048
71 happy demeanor HP:0040082
72 broad eyebrow HP:0011229
73 pulmonary artery sling HP:0004961
74 pulmonary artery stenosis HP:0004415
75 abnormality of the abdominal wall HP:0004298
76 abdominal distention HP:0003270
77 supernumerary nipple HP:0002558
78 intellectual disability, moderate HP:0002342
79 drooling HP:0002307
80 hypoplasia of the corpus callosum HP:0002079
81 vomiting HP:0002013
82 abnormality of metabolism/homeostasis HP:0001939
83 patent ductus arteriosus HP:0001643
84 pulmonic stenosis HP:0001642
85 atria septal defect HP:0001631
86 ventricular septal defect HP:0001629
87 abnormality of the rib cage HP:0001547
88 absent speech HP:0001344
89 motor delay HP:0001270
90 muscular hypotonia HP:0001252
91 pectus carinatum HP:0000768
92 pectus excavatum HP:0000767
93 widely spaced teeth HP:0000687
94 delayed eruption of teeth HP:0000684

UMLS symptoms related to Mowat-Wilson Syndrome:


vomiting, seizures, drooling, constipation

Drugs & Therapeutics for Mowat-Wilson Syndrome

About this section

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

About this section

Genetic tests related to Mowat-Wilson Syndrome:

id Genetic test Affiliating Genes
1 Mowat-Wilson Syndrome22 ZEB2

Anatomical Context for Mowat-Wilson Syndrome

About this section

MalaCards organs/tissues related to Mowat-Wilson Syndrome:

33
Eye, Heart, Kidney, Testes, Cerebellum, Endothelial, Spinal cord

Animal Models for Mowat-Wilson Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Mowat-Wilson Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036317.5EDNRB, GEMIN2, KANSL1, MEF2C, NLRP3, SLC9A6

Publications for Mowat-Wilson Syndrome

About this section

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
Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome. (25899569)
2015
4
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
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" American Journal of Medical Genetics Part A. 164:2557-2566, 2014. (26097173)
2015
6
HIRSCHSPRUNG DISEASE ASSOCIATED WITH MOWAT-WILSON SYNDROME: REPORT OF A CASE. (25795985)
2015
7
Mowat-Wilson syndrome. (25608118)
2015
8
Hirschsprung's disease associated with Mowat-Wilson syndrome. (24827654)
2014
9
Ocular phenotype of Mowat-Wilson syndrome in the first reported Cypriot patients: an under-recognized association. (24263623)
2014
10
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
11
ZEB2 Gene Mutation and Duplication of 22q11.23 in Mowat-Wilson Syndrome. (25028418)
2014
12
Mowat-Wilson syndrome: the first report of an association with central nervous system tumors. (24092421)
2013
13
Recurrent structural malformations identified among Mowat-Wilson syndrome fetuses. (24375696)
2013
14
Vagus nerve stimulation for drug-resistant epilepsy in a patient with Mowat-Wilson syndrome. (23860154)
2013
15
Mowat-Wilson syndrome detected by using high resolution microarray. (24029077)
2013
16
Mowat-Wilson syndrome in a fetus with antenatal diagnosis of short corpus callosum: advocacy for standard autopsy. (23523603)
2013
17
Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype. (23322667)
2013
18
ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome. (23466526)
2013
19
Epilepsy in Mowat-Wilson syndrome: is it a matter of GABA? (23815573)
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
The behavioral phenotype of Mowat-Wilson syndrome. (22246645)
2012
24
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
25
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
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
Mowat-Wilson syndrome--a case report]. (19764599)
2009
29
Outcomes of Hirschsprung's disease associated with Mowat-Wilson syndrome. (19302864)
2009
30
Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature. (19215041)
2009
31
Safe use of the classic laryngeal mask airway and endotracheal intubation in general anaesthesia for a patient with Mowat-Wilson syndrome. (19207908)
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

About this section

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

67
id Symbol AA change Variation ID SNP ID
1ZEB2p.Arg953GlyVAR_027017
2ZEB2p.Gln1119ArgVAR_027018

Clinvar genetic disease variations for Mowat-Wilson Syndrome:

5 (show all 85)
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 variantPathogenicrs756686919GRCh37Chr 2, 145157774: 145157774
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)deletionPathogenicrs797046119GRCh38Chr 2, 144398780: 144398783
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 variantPathogenicrs797046121GRCh38Chr 2, 144389959: 144389959
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.1645A> T (p.Arg549Ter)single nucleotide variantPathogenicrs137852980GRCh37Chr 2, 145157109: 145157109
61ZEB2NM_014795.3(ZEB2): c.2083C> T (p.Arg695Ter)single nucleotide variantPathogenicrs137852981GRCh37Chr 2, 145156671: 145156671
62ZEB2NM_014795.3(ZEB2): c.1173_1176delAACA (p.Thr392Asnfs)deletionPathogenicrs587776603GRCh37Chr 2, 145157578: 145157581
63ZEB2NM_014795.3(ZEB2): c.1426dupA (p.Met476Asnfs)duplicationPathogenicrs587776604GRCh37Chr 2, 145157328: 145157328
64ZEB2NM_014795.3(ZEB2): c.760_761dupAC (p.Gln255Profs)duplicationPathogenicrs587776605GRCh37Chr 2, 145161529: 145161530
65ZEB2NM_014795.3(ZEB2): c.2453dupT (p.Leu818Phefs)duplicationPathogenicrs587776606GRCh37Chr 2, 145156301: 145156301
66ZEB2NM_014795.3(ZEB2): c.1892delA (p.Asn631Ilefs)deletionPathogenicrs587776607GRCh37Chr 2, 145156862: 145156862
67ZEB2NM_014795.3(ZEB2): c.553_554insTG (p.Arg185Leufs)insertionPathogenicrs587776608GRCh37Chr 2, 145162441: 145162442
68ZEB2NM_014795.3(ZEB2): c.2555C> G (p.Ser852Ter)single nucleotide variantPathogenicrs137852982GRCh37Chr 2, 145156199: 145156199
69ZEB2NM_014795.3(ZEB2): c.3566_3567dupCC (p.Met1190Profs)duplicationPathogenicrs587776609GRCh37Chr 2, 145147096: 145147097
70NC_000002.12deletionPathogenicGRCh38Chr 2, 144114719: 144681958
71ZEB2NM_014795.3(ZEB2): c.1862delT (p.Val621Alafs)deletionPathogenicrs587776611GRCh37Chr 2, 145156892: 145156892
72ZEB2NM_014795.3(ZEB2): c.-69-1G> Asingle nucleotide variantPathogenicrs587776612GRCh37Chr 2, 145274987: 145274987
73ZEB2NM_014795.3(ZEB2): c.3356A> G (p.Gln1119Arg)single nucleotide variantPathogenicrs137852983GRCh37Chr 2, 145147307: 145147307
74ZEB2NM_014795.3(ZEB2): c.3211T> C (p.Ser1071Pro)single nucleotide variantPathogenicrs397515448GRCh37Chr 2, 145147452: 145147452
75ZEB2NM_014795.3(ZEB2): c.3134A> G (p.His1045Arg)single nucleotide variantPathogenicrs397515449GRCh37Chr 2, 145147529: 145147529
76ZEB2NM_014795.3(ZEB2): c.1381C> T (p.Gln461Ter)single nucleotide variantPathogenicrs398124274GRCh37Chr 2, 145157373: 145157373
77ZEB2NM_014795.3(ZEB2): c.1541dupC (p.Val515Glyfs)duplicationPathogenicrs398124275GRCh37Chr 2, 145157213: 145157213
78ZEB2NM_014795.3(ZEB2): c.1586delC (p.Thr529Serfs)deletionPathogenicrs398124276GRCh37Chr 2, 145157168: 145157168
79ZEB2NM_014795.3(ZEB2): c.2032delT (p.Ser678Profs)deletionPathogenicrs398124277GRCh37Chr 2, 145156722: 145156722
80ZEB2NM_014795.3(ZEB2): c.2174_2177dupACTC (p.Leu728Phefs)duplicationPathogenicrs398124278GRCh37Chr 2, 145156577: 145156580
81ZEB2NM_014795.3(ZEB2): c.3359_3364delGGTACTinsTAATG (p.Gly1120Valfs)indelPathogenicrs398124280GRCh37Chr 2, 145147299: 145147304
82ZEB2NM_014795.3(ZEB2): c.643_659del17 (p.Tyr215Glnfs)deletionPathogenicrs398124281GRCh37Chr 2, 145161631: 145161647
83ZEB2NM_014795.3(ZEB2): c.73+2T> Csingle nucleotide variantPathogenicrs398124282GRCh37Chr 2, 145274843: 145274843
84ZEB2NM_014795.3(ZEB2): c.782_783delTG (p.Val261Aspfs)deletionPathogenicrs398124283GRCh37Chr 2, 145161507: 145161508
85ZEB2NM_014795.3(ZEB2): c.805C> T (p.Gln269Ter)single nucleotide variantPathogenicrs398124284GRCh37Chr 2, 145161485: 145161485

Expression for genes affiliated with Mowat-Wilson Syndrome

About this section
Search GEO for disease gene expression data for Mowat-Wilson Syndrome.

Pathways for genes affiliated with Mowat-Wilson Syndrome

About this section

GO Terms for genes affiliated with Mowat-Wilson Syndrome

About this section

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

idNameGO IDScoreTop Affiliating Genes
1neural crest cell migrationGO:000175510.2EDNRB, ZEB2
2cellular response to lipopolysaccharideGO:00712229.6EDNRB, MEF2C
3negative regulation of transcription from RNA polymerase II promoterGO:00001229.0EDNRB, MEF2C, ZEB2

Sources for Mowat-Wilson Syndrome

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet