MOWS
MCID: MWT001
MIFTS: 46

Mowat-Wilson Syndrome (MOWS) 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 52 11 71 23 48 24 25 54 70 27 12 39 13 68
Hirschsprung Disease-Mental Retardation Syndrome 24 25 70
Hirschsprung Disease-Intellectual Disability Syndrome 23 54
Hirschsprung Disease Mental Retardation Syndrome 11 48
Microcephaly, Mental Retardation, and Distinct Facial Features, with or Without Hirschsprung Disease 25
 
Mental Retardation, Microcephaly, and Distinct Facial Features with or Without Hirschsprung Disease 48
Microcephaly, Mental Retardation, and Distinct Facial Featrues, with or Without Hirschprung Disease 11
Microcephaly, Mental Retardation, Distinct Facial Features with or Without Hirschsprung Disease 70
Mows 70
Mws 25

Characteristics:

Orphanet epidemiological data:

54
mowat-wilson syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal

HPO:

64
mowat-wilson syndrome:
Inheritance: autosomal dominant inheritance

GeneReviews:

23
Penetrance: penetrance appears to be complete...


Classifications:



External Ids:

OMIM52 235730
Disease Ontology11 DOID:0060485
NCIt45 C74999
Orphanet54 ORPHA2152
SNOMED-CT62 703535000
MESH via Orphanet40 C536990
UMLS via Orphanet69 C1856113
ICD10 via Orphanet31 Q43.1
MedGen37 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 constipation, constipation and seizures. An important gene associated with Mowat-Wilson Syndrome is ZEB2 (Zinc Finger E-Box Binding Homeobox 2). Affiliated tissues include eye, heart and kidney.

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.

NIH Rare Diseases:48 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

OMIM:52 Mowat-Wilson syndrome is an autosomal dominant complex developmental disorder; individuals with functional null... (235730) more...

UniProtKB/Swiss-Prot:70 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.

GeneReviews for NBK1412

Related Diseases for Mowat-Wilson Syndrome

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Diseases in the Mowat-Wilson Syndrome family:

Mowat-Wilson Syndrome Due to Monosomy 2q22 Mowat-Wilson Syndrome Due to a Zeb2 Point Mutation

Diseases related to Mowat-Wilson Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
idRelated DiseaseScoreTop Affiliating Genes
1mowat-wilson syndrome due to monosomy 2q2212.2
2mowat-wilson syndrome due to a zeb2 point mutation12.1
3muckle-wells syndrome11.7
4marden-walker syndrome11.6
5hirschsprung disease 111.2
6goldberg-shprintzen megacolon syndrome11.2
7cryopyrin-associated periodic syndrome11.1
8craniosynostosis10.3
9epilepsy10.2
10spinal meningioma10.1EDNRB, ZEB2
11night blindness, congenital stationary , 1a, x-linked10.0POGZ, ZEB2
12skin pilomatrix carcinoma10.0EDNRB, ZEB2
13hypospadias10.0
14ehlers-danlos syndrome10.0
15status epilepticus10.0
16gingivitis10.0
17tracheal stenosis10.0
18rhabdomyosarcoma10.0
19laryngitis10.0
20gingival hypertrophy10.0
21polymicrogyria10.0
22congenital tracheal stenosis10.0
23corpus callosum agenesis10.0
24intellectual disability10.0
25dysphagia10.0
26mental retardation, truncal obesity, retinal dystrophy, and micropenis9.9KANSL1, MBD5
27leprosy9.9
28lepromatous leprosy9.8
29leishmaniasis9.8
30visceral leishmaniasis9.8
31wells syndrome9.8
32hiv-19.6
33hepatocellular carcinoma9.6
34chronic lymphocytic leukemia9.6
35hemolytic anemia9.6
36keratoconus9.6
37leukemia9.6
38pemphigus vulgaris9.6
39borderline leprosy9.6
40melanoma9.6
41dermatitis9.6
42granulomatous dermatitis9.6
43autoimmune hemolytic anemia9.6
44amyloidosis9.6
45pemphigus9.6
46epilepsy, idiopathic generalized 98.8CNTNAP5, EDNRB, EPC2, KANSL1, MBD5, NLRP3

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



Diseases related to mowat-wilson syndrome

Symptoms & Phenotypes 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:

 54 64 (show all 80)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism64 54 Frequent (79-30%) HP:0000028
2 hypospadias64 54 Frequent (79-30%) HP:0000047
3 bifid scrotum64 54 Occasional (29-5%) HP:0000048
4 vesicoureteral reflux64 54 Occasional (29-5%) HP:0000076
5 ectopic kidney64 54 Occasional (29-5%) HP:0000086
6 hydronephrosis64 54 Occasional (29-5%) HP:0000126
7 cleft palate64 54 Occasional (29-5%) HP:0000175
8 open mouth64 54 Frequent (79-30%) HP:0000194
9 cleft upper lip64 54 Occasional (29-5%) HP:0000204
10 high palate64 54 Frequent (79-30%) HP:0000218
11 everted lower lip vermilion64 54 Frequent (79-30%) HP:0000232
12 microcephaly64 54 Very frequent (99-80%) HP:0000252
13 epicanthus64 54 Frequent (79-30%) HP:0000286
14 pointed chin64 54 Occasional (29-5%) HP:0000307
15 hypertelorism64 54 Frequent (79-30%) HP:0000316
16 high forehead64 54 Very frequent (99-80%) HP:0000348
17 posteriorly rotated ears64 54 Frequent (79-30%) HP:0000358
18 wide nasal bridge64 54 Occasional (29-5%) HP:0000431
19 strabismus64 54 Occasional (29-5%) HP:0000486
20 deeply set eye64 54 Very frequent (99-80%) HP:0000490
21 abnormality of the eyebrow64 54 Very frequent (99-80%) HP:0000534
22 microphthalmia64 54 Occasional (29-5%) HP:0000568
23 iris coloboma64 54 Occasional (29-5%) HP:0000612
24 nystagmus64 54 Occasional (29-5%) HP:0000639
25 tapered finger64 54 Frequent (79-30%) HP:0001182
26 seizures64 54 Frequent (79-30%) HP:0001250
27 muscular hypotonia64 54 Frequent (79-30%) HP:0001252
28 ventricular septal defect64 54 Occasional (29-5%) HP:0001629
29 tetralogy of fallot64 54 Occasional (29-5%) HP:0001636
30 patent ductus arteriosus64 54 Occasional (29-5%) HP:0001643
31 hallux valgus64 54 Occasional (29-5%) HP:0001822
32 deep plantar creases64 54 Occasional (29-5%) HP:0001869
33 frontal bossing64 54 Very frequent (99-80%) HP:0002007
34 constipation64 54 Occasional (29-5%) HP:0002019
35 ventriculomegaly64 54 Occasional (29-5%) HP:0002119
36 cerebral cortical atrophy64 54 Occasional (29-5%) HP:0002120
37 fine hair64 54 Frequent (79-30%) HP:0002213
38 aganglionic megacolon64 54 Frequent (79-30%) HP:0002251
39 supernumerary nipple64 54 Occasional (29-5%) HP:0002558
40 malformation of the heart and great vessels54 Frequent (79-30%)
41 short stature64 54 Frequent (79-30%) HP:0004322
42 finger syndactyly64 54 Occasional (29-5%) HP:0006101
43 aplasia/hypoplasia of the cerebellum64 54 Occasional (29-5%) HP:0007360
44 aplasia/hypoplasia of the corpus callosum64 54 Frequent (79-30%) HP:0007370
45 external ear malformation64 54 Very frequent (99-80%) HP:0008572
46 large earlobe64 54 Very frequent (99-80%) HP:0009748
47 uplifted earlobe64 54 Very frequent (99-80%) HP:0009909
48 broad hallux phalanx64 54 Occasional (29-5%) HP:0010059
49 broad columella64 54 Frequent (79-30%) HP:0010761
50 camptodactyly of finger64 54 Occasional (29-5%) HP:0100490
51 submucous cleft hard palate64 HP:0000176
52 cupped ear64 HP:0000378
53 downslanted palpebral fissures64 HP:0000494
54 ptosis64 HP:0000508
55 esotropia64 HP:0000565
56 delayed eruption of teeth64 HP:0000684
57 widely spaced teeth64 HP:0000687
58 pectus excavatum64 HP:0000767
59 pectus carinatum64 HP:0000768
60 intellectual disability64 HP:0001249
61 motor delay64 HP:0001270
62 agenesis of corpus callosum64 HP:0001274
63 absent speech64 HP:0001344
64 abnormality of the rib cage64 HP:0001547
65 atrial septal defect64 HP:0001631
66 pulmonic stenosis64 HP:0001642
67 abnormality of metabolism/homeostasis64 HP:0001939
68 vomiting64 HP:0002013
69 hypoplasia of the corpus callosum64 HP:0002079
70 drooling64 HP:0002307
71 intellectual disability, moderate64 HP:0002342
72 abdominal distention64 HP:0003270
73 generalized muscle hypertrophy64 HP:0003720
74 abnormality of the abdominal wall64 HP:0004298
75 pulmonary artery stenosis64 HP:0004415
76 pulmonary artery sling64 HP:0004961
77 prominent nasal tip64 HP:0005274
78 low hanging columella64 HP:0009765
79 broad eyebrow64 HP:0011229
80 happy demeanor64 HP:0040082

UMLS symptoms related to Mowat-Wilson Syndrome:


constipation, 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 Syndrome27 24 ZEB2

Anatomical Context for Mowat-Wilson Syndrome

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MalaCards organs/tissues related to Mowat-Wilson Syndrome:

36
Eye, Heart, Kidney, Cerebellum, Testes

Publications for Mowat-Wilson Syndrome

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Articles related to Mowat-Wilson Syndrome:

(show top 50)    (show all 81)
idTitleAuthorsYear
1
Co-occurrence of rhabdomyosarcoma and Mowat-Wilson syndrome: is there a connection? (28230647)
2017
2
Incontinence and psychological symptoms in individuals with Mowat-Wilson Syndrome. (28094084)
2017
3
Critical involvement of ZEB2 in collagen fibrillogenesis: the molecular similarity between Mowat-Wilson syndrome and Ehlers-Danlos syndrome. (28422173)
2017
4
Electrical status epilepticus during sleep in Mowat-Wilson syndrome. (28501473)
2017
5
Experience of Mowat-Wilson syndrome prenatal diagnosis for a Chinese family. (28096981)
2017
6
Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients. (27831545)
2016
7
Anaesthetic management of Mowat-Wilson syndrome. (27141118)
2016
8
Difficult airway in Mowat-Wilson syndrome. (27687363)
2016
9
Sleep disturbance in Mowat-Wilson syndrome. (26686679)
2016
10
A Diagnosis to Consider in Intellectual Disability: Mowat-Wilson Syndrome. (26809768)
2016
11
Novel Zeb2 gene variation in the Mowat Wilson syndrome (MWS). (26852091)
2016
12
Erratum to "the spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations". (26057116)
2015
13
Mowat-Wilson syndrome. (25608118)
2015
14
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
15
Mowat-Wilson syndrome: neurological and molecular study in seven patients. (25608121)
2015
16
HIRSCHSPRUNG DISEASE ASSOCIATED WITH MOWAT-WILSON SYNDROME: REPORT OF A CASE. (25795985)
2015
17
Psychopharmacological Management of Problem Behaviors in Mowat-Wilson Syndrome. (26402313)
2015
18
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
19
Polymicrogyria in a 10-month-old boy with Mowat-Wilson syndrome. (26012591)
2015
20
Hirschsprung's disease in children with Mowat-Wilson syndrome. (26156877)
2015
21
Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome. (25899569)
2015
22
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
23
ZEB2 Gene Mutation and Duplication of 22q11.23 in Mowat-Wilson Syndrome. (25028418)
2014
24
Ocular phenotype of Mowat-Wilson syndrome in the first reported Cypriot patients: an under-recognized association. (24263623)
2014
25
Mowat-Wilson syndrome associated with craniosynostosis. (24300291)
2014
26
Hirschsprung's disease associated with Mowat-Wilson syndrome. (24827654)
2014
27
The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations. (24715670)
2014
28
Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype. (23322667)
2013
29
Mowat-Wilson Syndrome: Deafness in the First Egyptian Case Who Was Conceived by Intracytoplasmic Sperm Injection. (24282181)
2013
30
Recurrent structural malformations identified among Mowat-Wilson syndrome fetuses. (24375696)
2013
31
ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome. (23466526)
2013
32
A new finding in a patient with Mowat Wilson syndrome: peripupillary atrophy and gingival hypertrophy. (23610866)
2013
33
Epilepsy in Mowat-Wilson syndrome: is it a matter of GABA? (23815573)
2013
34
Mowat-Wilson syndrome in a fetus with antenatal diagnosis of short corpus callosum: advocacy for standard autopsy. (23523603)
2013
35
Vagus nerve stimulation for drug-resistant epilepsy in a patient with Mowat-Wilson syndrome. (23860154)
2013
36
Mowat-Wilson syndrome detected by using high resolution microarray. (24029077)
2013
37
Mowat-Wilson syndrome: the first report of an association with central nervous system tumors. (24092421)
2013
38
The behavioral phenotype of Mowat-Wilson syndrome. (22246645)
2012
39
A novel long-range enhancer regulates postnatal expression of Zeb2: implications for Mowat-Wilson syndrome phenotypes. (23001561)
2012
40
A case of Mowat-Wilson syndrome caused by a truncating mutation within exon 8 of the ZEB2 gene. (23427518)
2012
41
Mowat-Wilson syndrome: the first clinical and molecular report of an indonesian patient. (23243526)
2012
42
Ophthalmologic abnormalities in Mowat-Wilson syndrome and a mutation in ZEB2. (22486326)
2012
43
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
44
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
45
Clinical utility gene card for: Mowat-Wilson syndrome. (21343952)
2011
46
Supernumerary intestinal muscle coat in a patient with Hirschsprung disease/Mowat-Wilson syndrome. (20158378)
2010
47
Second-trimester detection of Mowat-Wilson syndrome using comparative genomic hybridization microarray testing. (20093881)
2010
48
Mowat-Wilson syndrome: the first two Malaysian cases. (20428734)
2010
49
Mowat-Wilson syndrome with associated dysphagia. (20101699)
2010
50
Severe clinical course of Hirschsprung disease in a Mowat-Wilson syndrome patient. (20145308)
2010

Variations for Mowat-Wilson Syndrome

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

70
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 87)
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)SNVPathogenicrs727504228GRCh37Chr 2, 145187387: 145187387
13ZEB2NM_ 014795.3(ZEB2): c.289delT (p.Trp97Glyfs)deletionPathogenicrs727503784GRCh37Chr 2, 145187378: 145187378
14ZEB2NM_ 014795.3(ZEB2): c.997delA (p.Lys333Asnfs)deletionPathogenicrs730881208GRCh38Chr 2, 144400190: 144400190
15ZEB2NM_ 014795.3(ZEB2): c.2228_ 2229delCT (p.Ser743Tyrfs)deletionPathogenicrs730881211GRCh38Chr 2, 144398958: 144398959
16ZEB2NM_ 014795.3(ZEB2): c.3002delG (p.Cys1001Leufs)deletionPathogenicrs730881212GRCh38Chr 2, 144396477: 144396477
17ZEB2NM_ 014795.3(ZEB2): c.3195dupA (p.His1066Thrfs)duplicationPathogenicrs730881213GRCh38Chr 2, 144389901: 144389901
18ZEB2NM_ 014795.3(ZEB2): c.178_ 190delACGAGTCCAGCTAinsGTT (p.Thr60Valfs)indelPathogenicrs730881215GRCh38Chr 2, 144429910: 144429922
19ZEB2NM_ 014795.3(ZEB2): c.3073delA (p.Arg1025Aspfs)deletionPathogenicrs730881217GRCh38Chr 2, 144390023: 144390023
20ZEB2NM_ 014795.3(ZEB2): c.3499delA (p.Ser1167Valfs)deletionPathogenicrs730881218GRCh38Chr 2, 144389597: 144389597
21ZEB2NM_ 014795.3(ZEB2): c.1257delG (p.Gly421Glufs)deletionPathogenicrs786204801GRCh38Chr 2, 144399930: 144399930
22ZEB2NM_ 014795.3(ZEB2): c.20_ 21insT (p.Asp8Glyfs)insertionPathogenicrs786204802GRCh38Chr 2, 144517330: 144517331
23ZEB2NM_ 014795.3(ZEB2): c.1944delC (p.Ile649Serfs)deletionPathogenicrs786204803GRCh38Chr 2, 144399243: 144399243
24ZEB2NM_ 014795.3(ZEB2): c.2687_ 2688dupCA (p.Ala897Glnfs)duplicationPathogenicrs786204804GRCh38Chr 2, 144398499: 144398500
25ZEB2NM_ 014795.3(ZEB2): c.1172_ 1182delAAACAGAACCAinsTGACTTAAAATTAATG (p.Lys391Metfs)indelPathogenicrs786204805GRCh38Chr 2, 144400005: 144400015
26ZEB2NM_ 014795.3(ZEB2): c.404-?_ (*5076_ ?)deldeletionPathogenic
27ZEB2NM_ 014795.3(ZEB2): c.660C> G (p.Tyr220Ter)SNVPathogenicrs111724246GRCh38Chr 2, 144404063: 144404063
28ZEB2NM_ 014795.3(ZEB2): c.(?_ -522)_ (*5076_ ?)deldeletionPathogenic
29ZEB2NM_ 014795.3(ZEB2): c.1541_ 1542insA (p.Val515Glyfs)insertionPathogenicrs398124275GRCh38Chr 2, 144399645: 144399646
30ZEB2NM_ 014795.3(ZEB2): c.703delG (p.Glu235Argfs)deletionPathogenicrs786204806GRCh38Chr 2, 144404020: 144404020
31ZEB2NM_ 014795.3(ZEB2): c.1277T> G (p.Leu426Ter)SNVPathogenicrs786204807GRCh38Chr 2, 144399910: 144399910
32ZEB2NM_ 014795.3(ZEB2): c.1749C> A (p.Cys583Ter)SNVPathogenicrs786204808GRCh38Chr 2, 144399438: 144399438
33ZEB2NM_ 014795.3(ZEB2): c.1754delT (p.Phe585Serfs)deletionPathogenicrs786204809GRCh38Chr 2, 144399433: 144399433
34ZEB2NM_ 014795.3(ZEB2): c.2179_ 2180delTT (p.Leu727Ilefs)deletionPathogenicrs786204810GRCh38Chr 2, 144399007: 144399008
35ZEB2NM_ 014795.3(ZEB2): c.1884delT (p.Phe628Leufs)deletionPathogenicrs786204811GRCh38Chr 2, 144399303: 144399303
36ZEB2NM_ 014795.3(ZEB2): c.227_ 233delAAGCTCT (p.Gln76Argfs)deletionPathogenicrs786204812GRCh38Chr 2, 144429867: 144429873
37ZEB2NM_ 014795.3(ZEB2): c.73+1delGdeletionPathogenicrs786204813GRCh38Chr 2, 144517277: 144517277
38ZEB2NM_ 014795.3(ZEB2): c.1416_ 1420delCAGGC (p.Arg473Lysfs)deletionPathogenicrs786204814GRCh38Chr 2, 144399767: 144399771
39ZEB2NM_ 014795.3(ZEB2): c.1027C> T (p.Arg343Ter)SNVPathogenicrs786204815GRCh38Chr 2, 144400160: 144400160
40ZEB2NM_ 014795.3(ZEB2): c.3391_ 3400delCCGAGGGATG (p.Pro1131Alafs)deletionPathogenicrs786204816GRCh38Chr 2, 144389696: 144389705
41ZEB2NM_ 014795.3(ZEB2): c.460delG (p.Glu154Argfs)deletionPathogenicrs786204817GRCh38Chr 2, 144404968: 144404968
42ZEB2NM_ 014795.3(ZEB2): c.3068-?_ (*5076_ ?)deldeletionPathogenic
43ZEB2NM_ 014795.3(ZEB2): c.1966_ 1967delAT (p.Met656Valfs)deletionPathogenicrs786204818GRCh38Chr 2, 144399220: 144399221
44ZEB2NM_ 014795.3(ZEB2): c.1687delA (p.Ile563Terfs)deletionPathogenicrs786204819GRCh38Chr 2, 144399500: 144399500
45ZEB2NM_ 014795.3(ZEB2): c.1653delC (p.Ser552Valfs)deletionPathogenicrs786204820GRCh38Chr 2, 144399534: 144399534
46ZEB2NM_ 014795.3(ZEB2): c.2177_ 2180delCTTT (p.Ser726Tyrfs)deletionPathogenicrs786204821GRCh38Chr 2, 144399007: 144399010
47ZEB2NM_ 014795.3(ZEB2): c.980C> A (p.Ser327Ter)SNVPathogenicrs756686919GRCh38Chr 2, 144400207: 144400207
48ZEB2NM_ 014795.3(ZEB2): c.2701C> T (p.Gln901Ter)SNVPathogenicrs794727924GRCh37Chr 2, 145156053: 145156053
49ZEB2NM_ 014795.3(ZEB2): c.1106T> A (p.Leu369Ter)SNVPathogenicrs797046117GRCh37Chr 2, 145157648: 145157648
50ZEB2NM_ 014795.3(ZEB2): c.2061delT (p.Phe687Leufs)deletionPathogenicrs797046118GRCh37Chr 2, 145156693: 145156693
51ZEB2NM_ 014795.3(ZEB2): c.2404_ 2407delACTC (p.Thr802Glnfs)deletionPathogenicrs797046119GRCh37Chr 2, 145156347: 145156350
52ZEB2NM_ 014795.3(ZEB2): c.2894T> A (p.Leu965Ter)SNVPathogenicrs797046120GRCh38Chr 2, 144396585: 144396585
53ZEB2NM_ 014795.3(ZEB2): c.3137C> A (p.Ser1046Ter)SNVPathogenicrs797046121GRCh37Chr 2, 145147526: 145147526
54ZEB2NM_ 014795.3(ZEB2): c.674C> A (p.Ser225Ter)SNVPathogenicrs797046122GRCh38Chr 2, 144404049: 144404049
55ZEB2NM_ 014795.3(ZEB2): c.2932G> T (p.Asp978Tyr)SNVLikely pathogenicrs863224942GRCh37Chr 2, 145154114: 145154114
56ZEB2NM_ 014795.3(ZEB2): c.2180delT (p.Leu727Tyrfs)deletionLikely pathogenicrs863224943GRCh37Chr 2, 145156574: 145156574
57ZEB2NM_ 014795.3(ZEB2): c.2672_ 2678delCCAAACC (p.Ala891Valfs)deletionPathogenicrs878855329GRCh37Chr 2, 145156076: 145156082
58ZEB2NM_ 014795.3(ZEB2): c.1102C> T (p.Gln368Ter)SNVPathogenicrs886041338GRCh37Chr 2, 145157652: 145157652
59ZEB2NM_ 014795.3(ZEB2): c.3241T> A (p.Cys1081Ser)SNVLikely pathogenicrs886044396GRCh37Chr 2, 145147422: 145147422
60ZEB2NM_ 014795.3(ZEB2): c.3095delG (p.Cys1032Leufs)deletionPathogenicrs1060500653GRCh38Chr 2, 144390001: 144390001
61ZEB2NC_ 000002.12: g.(?_ 144517278)_ (144517419_ ?)deldeletionPathogenicGRCh37Chr 2, 145274845: 145274986
62ZEB2NM_ 014795.3(ZEB2): c.1645A> T (p.Arg549Ter)SNVPathogenicrs137852980GRCh37Chr 2, 145157109: 145157109
63ZEB2NM_ 014795.3(ZEB2): c.2083C> T (p.Arg695Ter)SNVPathogenicrs137852981GRCh37Chr 2, 145156671: 145156671
64ZEB2NM_ 014795.3(ZEB2): c.1173_ 1176delAACA (p.Thr392Asnfs)deletionPathogenicrs587776603GRCh37Chr 2, 145157578: 145157581
65ZEB2NM_ 014795.3(ZEB2): c.1426dupA (p.Met476Asnfs)duplicationPathogenicrs587776604GRCh37Chr 2, 145157328: 145157328
66ZEB2NM_ 014795.3(ZEB2): c.760_ 761dupAC (p.Gln255Profs)duplicationPathogenicrs587776605GRCh37Chr 2, 145161529: 145161530
67ZEB2NM_ 014795.3(ZEB2): c.2453dupT (p.Leu818Phefs)duplicationPathogenicrs587776606GRCh37Chr 2, 145156301: 145156301
68ZEB2NM_ 014795.3(ZEB2): c.1892delA (p.Asn631Ilefs)deletionPathogenicrs587776607GRCh37Chr 2, 145156862: 145156862
69ZEB2NM_ 014795.3(ZEB2): c.553_ 554insTG (p.Arg185Leufs)insertionPathogenicrs587776608GRCh37Chr 2, 145162441: 145162442
70ZEB2NM_ 014795.3(ZEB2): c.2555C> G (p.Ser852Ter)SNVPathogenicrs137852982GRCh37Chr 2, 145156199: 145156199
71ZEB2NM_ 014795.3(ZEB2): c.3566_ 3567dupCC (p.Met1190Profs)duplicationPathogenicrs587776609GRCh38Chr 2, 144389529: 144389530
72ZEB2NC_ 000002.12: g.(144114719_ 144303837)_ (144566562_ 144681958)deldeletionPathogenicGRCh38Chr 2, 144114719: 144681958
73ZEB2NM_ 014795.3(ZEB2): c.1862delT (p.Val621Alafs)deletionPathogenicrs587776611GRCh37Chr 2, 145156892: 145156892
74ZEB2NM_ 014795.3(ZEB2): c.-69-1G> ASNVPathogenicrs587776612GRCh37Chr 2, 145274987: 145274987
75ZEB2NM_ 014795.3(ZEB2): c.3356A> G (p.Gln1119Arg)SNVPathogenicrs137852983GRCh37Chr 2, 145147307: 145147307
76ZEB2NM_ 014795.3(ZEB2): c.3211T> C (p.Ser1071Pro)SNVPathogenicrs397515448GRCh37Chr 2, 145147452: 145147452
77ZEB2NM_ 014795.3(ZEB2): c.3134A> G (p.His1045Arg)SNVPathogenicrs397515449GRCh37Chr 2, 145147529: 145147529
78ZEB2NM_ 014795.3(ZEB2): c.1381C> T (p.Gln461Ter)SNVPathogenicrs398124274GRCh37Chr 2, 145157373: 145157373
79ZEB2NM_ 014795.3(ZEB2): c.1541dupC (p.Val515Glyfs)duplicationPathogenicrs398124275GRCh37Chr 2, 145157213: 145157213
80ZEB2NM_ 014795.3(ZEB2): c.1586delC (p.Thr529Serfs)deletionPathogenicrs398124276GRCh37Chr 2, 145157168: 145157168
81ZEB2NM_ 014795.3(ZEB2): c.2032delT (p.Ser678Profs)deletionPathogenicrs398124277GRCh37Chr 2, 145156722: 145156722
82ZEB2NM_ 014795.3(ZEB2): c.2174_ 2177dupACTC (p.Leu728Phefs)duplicationPathogenicrs398124278GRCh37Chr 2, 145156577: 145156580
83ZEB2NM_ 014795.3(ZEB2): c.3359_ 3364delGGTACTinsTAATG (p.Gly1120Valfs)indelPathogenicrs398124280GRCh37Chr 2, 145147299: 145147304
84ZEB2NM_ 014795.3(ZEB2): c.643_ 659del17 (p.Tyr215Glnfs)deletionPathogenicrs398124281GRCh37Chr 2, 145161631: 145161647
85ZEB2NM_ 014795.3(ZEB2): c.73+2T> CSNVPathogenicrs398124282GRCh37Chr 2, 145274843: 145274843
86ZEB2NM_ 014795.3(ZEB2): c.782_ 783delTG (p.Val261Aspfs)deletionPathogenicrs398124283GRCh37Chr 2, 145161507: 145161508
87ZEB2NM_ 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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Cellular components related to Mowat-Wilson Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1chromosomeGO:00056948.9KANSL1, MBD5, POGZ

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

idNameGO IDScoreTop Affiliating Genes
1developmental pigmentationGO:004806610.4EDNRB, ZEB2
2cellular response to lipopolysaccharideGO:007122210.2EDNRB, NLRP3
3neural crest cell migrationGO:00017559.8EDNRB, ZEB2
4nervous system developmentGO:00073999.5EDNRB, MBD5, ZEB2

Sources for Mowat-Wilson Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet