MOWS
MCID: MWT001
MIFTS: 44

Mowat-Wilson Syndrome (MOWS)

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

Aliases & Classifications for Mowat-Wilson Syndrome

MalaCards integrated aliases for Mowat-Wilson Syndrome:

Name: Mowat-Wilson Syndrome 58 12 77 25 54 26 60 76 38 30 13 6 45 15 41 74
Hirschsprung Disease-Mental Retardation Syndrome 58 26 76
Microcephaly, Mental Retardation, and Distinct Facial Features, with or Without Hirschsprung Disease 58 26
Hirschsprung Disease Mental Retardation Syndrome 12 54
Mows 58 76
Microcephaly, Mental Retardation, and Distinct Facial Featrues, with or Without Hirschprung Disease 12
Mental Retardation, Microcephaly, and Distinct Facial Features with or Without Hirschsprung Disease 54
Microcephaly, Mental Retardation, Distinct Facial Features with or Without Hirschsprung Disease 76
Hirschsprung Disease and Intellectual Disability Due to a Zeb2 Point Mutation 60
Hirschsprung Disease and Intellectual Disability Due to 2q22 Microdeletion 60
Hirschsprung Disease and Intellectual Disability Due to Monosomy 2q22 60
Hirschsprung Disease and Intellectual Disability Due to Del(2)(q22) 60
Hirschsprung Disease - Intellectual Disability Syndrome 25
Hirschsprung Disease-Intellectual Disability Syndrome 60
Mowat-Wilson Syndrome Due to a Zeb2 Point Mutation 60
Mowat-Wilson Syndrome Due to 2q22 Microdeletion 60
Mowat-Wilson Syndrome Due to Monosomy 2q22 60
Mowat-Wilson Syndrome Due to Del(2)q(22) 60
Mws 26

Characteristics:

Orphanet epidemiological data:

60
mowat-wilson syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
prevalence of 1 in 50,000-70,000 live births
milder phenotype associated with aberrant function of a single domain of the zeb2 protein rather than complete haploinsufficiency of zeb2


HPO:

33
mowat-wilson syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

25
Penetrance Penetrance appears to be complete...

Classifications:



Summaries for Mowat-Wilson Syndrome

Disease Ontology : 12 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 muckle-wells syndrome and marden-walker syndrome, and has symptoms including seizures, constipation and vomiting. An important gene associated with Mowat-Wilson Syndrome is ZEB2 (Zinc Finger E-Box Binding Homeobox 2). Affiliated tissues include eye, heart and brain, and related phenotypes are frontal bossing and microcephaly

Genetics Home Reference : 26 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 : 54 Mowat-Wilson syndrome (MWS) is a rare genetic disorder that affects many systems of the body. Some of the main features include intellectual disability, distinctive facial features, delayed development, and Hirschsprung disease. Other features may include microcephaly, structural brain abnormalities, epilepsy, short stature, and defects of the heart, urinary tract, or genitalia. MWS is caused by a mutation in the ZEB2 gene. It typically occurs for the first time in a person with MWS and is not inherited from a parent. Vary rarely, more than one child in a family will have MWS. Treatment depends on the symptoms present and focuses on the specific needs of each person.

OMIM : 58 Mowat-Wilson syndrome is an autosomal dominant complex developmental disorder; individuals with functional null mutations present with mental retardation, delayed motor development, epilepsy, and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Mowat-Wilson syndrome has many clinical features in common with Goldberg-Shprintzen syndrome (609460) but the 2 disorders are genetically distinct (Mowat et al., 2003). Goldberg-Shprintzen syndrome is caused by mutation in the KIAA1279 gene (609367) located on 10q. (235730)

UniProtKB/Swiss-Prot : 76 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.

Wikipedia : 77 Mowat–Wilson syndrome is a rare genetic disorder that was clinically delineated by Dr. D. R. Mowat and... more...

GeneReviews: NBK1412

Related Diseases for Mowat-Wilson Syndrome

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

(show top 50) (show all 87)
# Related Disease Score Top Affiliating Genes
1 muckle-wells syndrome 12.2
2 marden-walker syndrome 12.0
3 goldberg-shprintzen syndrome 11.4
4 cryopyrin-associated periodic syndrome 11.4
5 vibratory urticaria 11.1
6 hirschsprung disease 1 10.6
7 craniosynostosis 10.5
8 epilepsy 10.5
9 neutrophil migration 10.3
10 frasier syndrome 10.2
11 rapidly involuting congenital hemangioma 10.2
12 autism 10.2
13 corpus callosum, agenesis of 10.2
14 tracheobronchial stenosis, congenital 10.2
15 patent ductus arteriosus 1 10.2
16 alacrima, achalasia, and mental retardation syndrome 10.2
17 purpura fulminans 10.2
18 hypospadias 10.2
19 ehlers-danlos syndrome 10.2
20 status epilepticus 10.2
21 tracheal stenosis 10.2
22 rhabdomyosarcoma 10.2
23 purpura 10.2
24 gingival hypertrophy 10.2
25 polymicrogyria 10.2
26 congenital tracheal stenosis 10.2
27 seizure disorder 10.2
28 dysphagia 10.2
29 bowenoid papulosis 10.1
30 keratoconus 10.1
31 leprosy 3 10.1
32 hansen's disease 10.1
33 myocardial infarction 10.1
34 muscle disorders 10.1
35 spinal cord injury 10.1
36 myopathy 10.1
37 bladder cancer 10.0
38 horns in sheep 10.0
39 lymphoma 10.0
40 lepromatous leprosy 10.0
41 leishmaniasis 10.0
42 visceral leishmaniasis 10.0
43 wells syndrome 10.0
44 b-cell growth factor 9.8
45 leukemia, chronic lymphocytic 2 9.8
46 blood group, colton system 9.8
47 burkitt lymphoma 9.8
48 periodic fever, familial, autosomal dominant 9.8
49 renal cell carcinoma, nonpapillary 9.8
50 leukemia, chronic lymphocytic 9.8

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



Diseases related to Mowat-Wilson Syndrome

Symptoms & Phenotypes for Mowat-Wilson Syndrome

Human phenotypes related to Mowat-Wilson Syndrome:

60 33 (show top 50) (show all 87)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 60 33 hallmark (90%) Very frequent (99-80%) HP:0002007
2 microcephaly 60 33 very rare (1%) Very frequent (99-80%) HP:0000252
3 external ear malformation 60 33 hallmark (90%) Very frequent (99-80%) HP:0008572
4 deeply set eye 60 33 hallmark (90%) Very frequent (99-80%) HP:0000490
5 high forehead 60 33 hallmark (90%) Very frequent (99-80%) HP:0000348
6 large earlobe 60 33 hallmark (90%) Very frequent (99-80%) HP:0009748
7 uplifted earlobe 60 33 hallmark (90%) Very frequent (99-80%) HP:0009909
8 abnormal eyebrow morphology 33 hallmark (90%) HP:0000534
9 hypertelorism 60 33 frequent (33%) Frequent (79-30%) HP:0000316
10 high palate 60 33 frequent (33%) Frequent (79-30%) HP:0000218
11 seizures 60 33 very rare (1%) Frequent (79-30%) HP:0001250
12 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252
13 short stature 60 33 very rare (1%) Frequent (79-30%) HP:0004322
14 epicanthus 60 33 frequent (33%) Frequent (79-30%) HP:0000286
15 everted lower lip vermilion 60 33 frequent (33%) Frequent (79-30%) HP:0000232
16 cryptorchidism 60 33 very rare (1%) Frequent (79-30%) HP:0000028
17 aganglionic megacolon 60 33 very rare (1%) Frequent (79-30%) HP:0002251
18 hypospadias 60 33 very rare (1%) Frequent (79-30%) HP:0000047
19 open mouth 60 33 frequent (33%) Frequent (79-30%) HP:0000194
20 fine hair 60 33 frequent (33%) Frequent (79-30%) HP:0002213
21 tapered finger 60 33 frequent (33%) Frequent (79-30%) HP:0001182
22 aplasia/hypoplasia of the corpus callosum 60 33 frequent (33%) Frequent (79-30%) HP:0007370
23 broad columella 60 33 frequent (33%) Frequent (79-30%) HP:0010761
24 posteriorly rotated ears 60 33 frequent (33%) Frequent (79-30%) HP:0000358
25 finger syndactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0006101
26 nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000639
27 constipation 60 33 very rare (1%) Occasional (29-5%) HP:0002019
28 wide nasal bridge 60 33 occasional (7.5%) Occasional (29-5%) HP:0000431
29 broad hallux phalanx 60 33 occasional (7.5%) Occasional (29-5%) HP:0010059
30 cleft palate 60 33 very rare (1%) Occasional (29-5%) HP:0000175
31 ectopic kidney 60 33 occasional (7.5%) Occasional (29-5%) HP:0000086
32 strabismus 60 33 very rare (1%) Occasional (29-5%) HP:0000486
33 patent ductus arteriosus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001643
34 ventriculomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0002119
35 cerebral cortical atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0002120
36 aplasia/hypoplasia of the cerebellum 60 33 occasional (7.5%) Occasional (29-5%) HP:0007360
37 microphthalmia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000568
38 vesicoureteral reflux 60 33 occasional (7.5%) Occasional (29-5%) HP:0000076
39 tetralogy of fallot 60 33 occasional (7.5%) Occasional (29-5%) HP:0001636
40 ventricular septal defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0001629
41 pointed chin 60 33 occasional (7.5%) Occasional (29-5%) HP:0000307
42 hallux valgus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001822
43 iris coloboma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000612
44 camptodactyly of finger 60 33 occasional (7.5%) Occasional (29-5%) HP:0100490
45 bifid scrotum 60 33 very rare (1%) Occasional (29-5%) HP:0000048
46 cleft upper lip 60 33 occasional (7.5%) Occasional (29-5%) HP:0000204
47 hydronephrosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000126
48 supernumerary nipple 60 33 occasional (7.5%) Occasional (29-5%) HP:0002558
49 deep plantar creases 60 33 occasional (7.5%) Occasional (29-5%) HP:0001869
50 agenesis of corpus callosum 33 very rare (1%) HP:0001274

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
ptosis
iris coloboma
downslanting palpebral fissures
deep-set eyes
more
Neurologic Central Nervous System:
seizures
hypoplasia of the corpus callosum
hypotonia
delayed motor development
agenesis of the corpus callosum
more
Head And Neck Teeth:
widely spaced teeth
delayed tooth eruption
malpositioned teeth

Head And Neck Head:
microcephaly
pointed chin

Cardiovascular Vascular:
patent ductus arteriosus
pulmonary artery stenosis
pulmonary artery sling

Cardiovascular Heart:
atrial septal defect
ventricular septal defect
pulmonic valve stenosis

Abdomen External Features:
abdominal distention

Neurologic Behavioral Psychiatric Manifestations:
happy demeanor
repetitive behaviors
oral behaviors

Head And Neck Ears:
cupped ears
fleshy upturned lobules

Laboratory Abnormalities:
absent enteric ganglia beginning at rectum and extending proximally by varying degrees

Chest External Features:
pectus excavatum
pectus carinatum

Abdomen Gastrointestinal:
constipation
vomiting
barium enema shows transition zone between aganglionic contracted segment and dilated proximal bowel
megacolon

Head And Neck Nose:
wide nasal bridge
prominent nasal tip
columella extends below the ala nasi

Growth Height:
short stature

Genitourinary Internal Genitalia Male:
cryptorchidism

Genitourinary External Genitalia Male:
hypospadias
bifid scrotum

Head And Neck Mouth:
drooling
submucous cleft palate

Chest Breasts:
accessory nipple

Skin Nails Hair Hair:
broad eyebrows
medially flared eyebrows

Clinical features from OMIM:

235730

UMLS symptoms related to Mowat-Wilson Syndrome:


seizures, constipation, vomiting

Drugs & Therapeutics for Mowat-Wilson Syndrome

Search Clinical Trials , NIH Clinical Center for Mowat-Wilson Syndrome

Cochrane evidence based reviews: mowat-wilson syndrome

Genetic Tests for Mowat-Wilson Syndrome

Genetic tests related to Mowat-Wilson Syndrome:

# Genetic test Affiliating Genes
1 Mowat-Wilson Syndrome 30 ZEB2

Anatomical Context for Mowat-Wilson Syndrome

MalaCards organs/tissues related to Mowat-Wilson Syndrome:

42
Eye, Heart, Brain, Kidney, Cerebellum, B Cells, Testes

Publications for Mowat-Wilson Syndrome

Articles related to Mowat-Wilson Syndrome:

(show top 50) (show all 99)
# Title Authors Year
1
Letter regarding the article "Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals ()" and the diagnosis of coexisting Mowat-Wilson syndrome in a patient with 16p11.2 deletion. ( 29024826 )
2018
2
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care. ( 29300384 )
2018
3
Anesthesia in Mowat-Wilson syndrome: information on 11 Italian patients. ( 29721247 )
2018
4
Requirement of the Mowat-Wilson Syndrome Gene Zeb2 in the Differentiation and Maintenance of Non-photoreceptor Cell Types During Retinal Development. ( 29922981 )
2018
5
Incidental finding of pulmonary arterial sling during patent ductus arteriosus surgery in a patient with Mowat-Wilson syndrome. ( 29954473 )
2018
6
Exome-first approach identified novel INDELs and gene deletions in Mowat-Wilson Syndrome patients. ( 30083364 )
2018
7
Mowat-Wilson Syndrome Presenting With Purpura Fulminans. ( 30573661 )
2018
8
Critical involvement of ZEB2 in collagen fibrillogenesis: the molecular similarity between Mowat-Wilson syndrome and Ehlers-Danlos syndrome. ( 28422173 )
2017
9
Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients. ( 27831545 )
2017
10
Incontinence and psychological symptoms in individuals with Mowat-Wilson Syndrome. ( 28094084 )
2017
11
Experience of Mowat-Wilson syndrome prenatal diagnosis for a Chinese family. ( 28096981 )
2017
12
Co-occurrence of rhabdomyosarcoma and Mowat-Wilson syndrome: is there a connection? ( 28230647 )
2017
13
Electrical status epilepticus during sleep in Mowat-Wilson syndrome. ( 28501473 )
2017
14
A Novel Partial Duplication of ZEB2 and Review of ZEB2 Involvement in Mowat-Wilson Syndrome. ( 28690488 )
2017
15
Mowat-Wilson syndrome presenting with fever-associated seizures. ( 29258970 )
2017
16
Sleep disturbance in Mowat-Wilson syndrome. ( 26686679 )
2016
17
A Diagnosis to Consider in Intellectual Disability: Mowat-Wilson Syndrome. ( 26809768 )
2016
18
Novel Zeb2 gene variation in the Mowat Wilson syndrome (MWS). ( 26852091 )
2016
19
Anaesthetic management of Mowat-Wilson syndrome. ( 27141118 )
2016
20
Difficult airway in Mowat-Wilson syndrome. ( 27687363 )
2016
21
"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
22
ZEB2 gene mutation and duplication of 22q11.23 in Mowat-Wilson syndrome. ( 25028418 )
2015
23
Mowat-Wilson syndrome. ( 25608118 )
2015
24
Mowat-Wilson syndrome: neurological and molecular study in seven patients. ( 25608121 )
2015
25
Hirschsprung disease associated with Mowat-Wilson syndrome: report of a case. ( 25795985 )
2015
26
Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome. ( 25899569 )
2015
27
Polymicrogyria in a 10-month-old boy with Mowat-Wilson syndrome. ( 26012591 )
2015
28
Erratum to "the spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations". ( 26057116 )
2015
29
Hirschsprung's disease in children with Mowat-Wilson syndrome. ( 26156877 )
2015
30
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
31
Psychopharmacological Management of Problem Behaviors in Mowat-Wilson Syndrome. ( 26402313 )
2015
32
Mowat-Wilson syndrome associated with craniosynostosis. ( 24300291 )
2014
33
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
34
Ocular phenotype of Mowat-Wilson syndrome in the first reported Cypriot patients: an under-recognized association. ( 24263623 )
2014
35
Mowat-Wilson syndrome: deafness in the first Egyptian case who was conceived by intracytoplasmic sperm injection. ( 24282181 )
2014
36
Recurrent structural malformations identified among Mowat-Wilson syndrome fetuses. ( 24375696 )
2014
37
The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations. ( 24715670 )
2014
38
Hirschsprung's disease associated with Mowat-Wilson syndrome. ( 24827654 )
2014
39
A new finding in a patient with Mowat Wilson syndrome: peripupillary atrophy and gingival hypertrophy. ( 23610866 )
2013
40
Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype. ( 23322667 )
2013
41
ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome. ( 23466526 )
2013
42
Mowat-Wilson syndrome in a fetus with antenatal diagnosis of short corpus callosum: advocacy for standard autopsy. ( 23523603 )
2013
43
Epilepsy in Mowat-Wilson syndrome: is it a matter of GABA? ( 23815573 )
2013
44
Vagus nerve stimulation for drug-resistant epilepsy in a patient with Mowat-Wilson syndrome. ( 23860154 )
2013
45
Mowat-Wilson syndrome detected by using high resolution microarray. ( 24029077 )
2013
46
Mowat-Wilson syndrome: the first report of an association with central nervous system tumors. ( 24092421 )
2013
47
The behavioral phenotype of Mowat-Wilson syndrome. ( 22246645 )
2012
48
Ophthalmologic abnormalities in Mowat-Wilson syndrome and a mutation in ZEB2. ( 22486326 )
2012
49
A novel long-range enhancer regulates postnatal expression of Zeb2: implications for Mowat-Wilson syndrome phenotypes. ( 23001561 )
2012
50
Mowat-Wilson syndrome: the first clinical and molecular report of an indonesian patient. ( 23243526 )
2012

Variations for Mowat-Wilson Syndrome

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

76
# Symbol AA change Variation ID SNP ID
1 ZEB2 p.Arg953Gly VAR_027017
2 ZEB2 p.Gln1119Arg VAR_027018 rs137852983

ClinVar genetic disease variations for Mowat-Wilson Syndrome:

6 (show top 50) (show all 589)
# Gene Variation Type Significance SNP ID Assembly Location
1 ZEB2 NM_014795.3(ZEB2): c.3566_3567dupCC (p.Met1190Profs) duplication Pathogenic rs587776609 GRCh38 Chromosome 2, 144389529: 144389530
2 ZEB2 NM_014795.3(ZEB2): c.2555C> G (p.Ser852Ter) single nucleotide variant Pathogenic rs137852982 GRCh37 Chromosome 2, 145156199: 145156199
3 ZEB2 NM_014795.3(ZEB2): c.2555C> G (p.Ser852Ter) single nucleotide variant Pathogenic rs137852982 GRCh38 Chromosome 2, 144398632: 144398632
4 ZEB2 NM_014795.3(ZEB2): c.3566_3567dupCC (p.Met1190Profs) duplication Pathogenic rs587776609 GRCh37 Chromosome 2, 145147096: 145147097
5 ZEB2 NM_014795.3(ZEB2): c.1645A> T (p.Arg549Ter) single nucleotide variant Pathogenic rs137852980 GRCh37 Chromosome 2, 145157109: 145157109
6 ZEB2 NM_014795.3(ZEB2): c.1645A> T (p.Arg549Ter) single nucleotide variant Pathogenic rs137852980 GRCh38 Chromosome 2, 144399542: 144399542
7 ZEB2 NM_014795.3(ZEB2): c.2083C> T (p.Arg695Ter) single nucleotide variant Pathogenic rs137852981 GRCh37 Chromosome 2, 145156671: 145156671
8 ZEB2 NM_014795.3(ZEB2): c.2083C> T (p.Arg695Ter) single nucleotide variant Pathogenic rs137852981 GRCh38 Chromosome 2, 144399104: 144399104
9 ZEB2 NM_014795.3(ZEB2): c.1173_1176delAACA (p.Thr392Asnfs) deletion Pathogenic rs587776603 GRCh37 Chromosome 2, 145157578: 145157581
10 ZEB2 NM_014795.3(ZEB2): c.1173_1176delAACA (p.Thr392Asnfs) deletion Pathogenic rs587776603 GRCh38 Chromosome 2, 144400011: 144400014
11 ZEB2 NM_014795.3(ZEB2): c.1426dupA (p.Met476Asnfs) duplication Pathogenic rs587776604 GRCh37 Chromosome 2, 145157328: 145157328
12 ZEB2 NM_014795.3(ZEB2): c.1426dupA (p.Met476Asnfs) duplication Pathogenic rs587776604 GRCh38 Chromosome 2, 144399761: 144399761
13 ZEB2 NM_014795.3(ZEB2): c.760_761dupAC (p.Gln255Profs) duplication Pathogenic rs587776605 GRCh37 Chromosome 2, 145161529: 145161530
14 ZEB2 NM_014795.3(ZEB2): c.760_761dupAC (p.Gln255Profs) duplication Pathogenic rs587776605 GRCh38 Chromosome 2, 144403962: 144403963
15 ZEB2 NM_014795.3(ZEB2): c.2453dupT (p.Leu818Phefs) duplication Pathogenic rs587776606 GRCh37 Chromosome 2, 145156301: 145156301
16 ZEB2 NM_014795.3(ZEB2): c.2453dupT (p.Leu818Phefs) duplication Pathogenic rs587776606 GRCh38 Chromosome 2, 144398734: 144398734
17 ZEB2 NM_014795.3(ZEB2): c.1892delA (p.Asn631Ilefs) deletion Pathogenic rs587776607 GRCh37 Chromosome 2, 145156862: 145156862
18 ZEB2 NM_014795.3(ZEB2): c.1892delA (p.Asn631Ilefs) deletion Pathogenic rs587776607 GRCh38 Chromosome 2, 144399295: 144399295
19 ZEB2 NM_014795.3(ZEB2): c.553_554insTG (p.Arg185Leufs) insertion Pathogenic rs587776608 GRCh37 Chromosome 2, 145162441: 145162442
20 ZEB2 NM_014795.3(ZEB2): c.553_554insTG (p.Arg185Leufs) insertion Pathogenic rs587776608 GRCh38 Chromosome 2, 144404874: 144404875
21 ZEB2 NM_014795.3(ZEB2): c.298_300delAAC (p.Asn100del) deletion Uncertain significance rs587776610 GRCh37 Chromosome 2, 145187367: 145187369
22 ZEB2 NM_014795.3(ZEB2): c.298_300delAAC (p.Asn100del) deletion Uncertain significance rs587776610 GRCh38 Chromosome 2, 144429800: 144429802
23 ZEB2 NC_000002.12 deletion Pathogenic GRCh38 Chromosome 2, 144114719: 144681958
24 ZEB2 NM_014795.3(ZEB2): c.1862delT (p.Val621Alafs) deletion Pathogenic rs587776611 GRCh37 Chromosome 2, 145156892: 145156892
25 ZEB2 NM_014795.3(ZEB2): c.1862delT (p.Val621Alafs) deletion Pathogenic rs587776611 GRCh38 Chromosome 2, 144399325: 144399325
26 ZEB2 NM_014795.3(ZEB2): c.-69-1G> A single nucleotide variant Pathogenic rs587776612 GRCh37 Chromosome 2, 145274987: 145274987
27 ZEB2 NM_014795.3(ZEB2): c.-69-1G> A single nucleotide variant Pathogenic rs587776612 GRCh38 Chromosome 2, 144517420: 144517420
28 ZEB2 NM_014795.3(ZEB2): c.3356A> G (p.Gln1119Arg) single nucleotide variant Pathogenic rs137852983 GRCh37 Chromosome 2, 145147307: 145147307
29 ZEB2 NM_014795.3(ZEB2): c.3356A> G (p.Gln1119Arg) single nucleotide variant Pathogenic rs137852983 GRCh38 Chromosome 2, 144389740: 144389740
30 ZEB2 NM_014795.3(ZEB2): c.3211T> C (p.Ser1071Pro) single nucleotide variant Pathogenic rs397515448 GRCh37 Chromosome 2, 145147452: 145147452
31 ZEB2 NM_014795.3(ZEB2): c.3211T> C (p.Ser1071Pro) single nucleotide variant Pathogenic rs397515448 GRCh38 Chromosome 2, 144389885: 144389885
32 ZEB2 NM_014795.3(ZEB2): c.3134A> G (p.His1045Arg) single nucleotide variant Pathogenic rs397515449 GRCh37 Chromosome 2, 145147529: 145147529
33 ZEB2 NM_014795.3(ZEB2): c.3134A> G (p.His1045Arg) single nucleotide variant Pathogenic rs397515449 GRCh38 Chromosome 2, 144389962: 144389962
34 ZEB2 NM_014795.3(ZEB2): c.1161A> G (p.Leu387=) single nucleotide variant Benign/Likely benign rs146673563 GRCh37 Chromosome 2, 145157593: 145157593
35 ZEB2 NM_014795.3(ZEB2): c.1161A> G (p.Leu387=) single nucleotide variant Benign/Likely benign rs146673563 GRCh38 Chromosome 2, 144400026: 144400026
36 ZEB2 NM_014795.3(ZEB2): c.1410T> A (p.Thr470=) single nucleotide variant Benign/Likely benign rs34890427 GRCh37 Chromosome 2, 145157344: 145157344
37 ZEB2 NM_014795.3(ZEB2): c.1410T> A (p.Thr470=) single nucleotide variant Benign/Likely benign rs34890427 GRCh38 Chromosome 2, 144399777: 144399777
38 ZEB2 NM_014795.3(ZEB2): c.1480C> T (p.Pro494Ser) single nucleotide variant Benign/Likely benign rs144952836 GRCh37 Chromosome 2, 145157274: 145157274
39 ZEB2 NM_014795.3(ZEB2): c.1480C> T (p.Pro494Ser) single nucleotide variant Benign/Likely benign rs144952836 GRCh38 Chromosome 2, 144399707: 144399707
40 ZEB2 NM_014795.3(ZEB2): c.1541dupC (p.Val515Glyfs) duplication Pathogenic rs398124275 GRCh37 Chromosome 2, 145157213: 145157213
41 ZEB2 NM_014795.3(ZEB2): c.1541dupC (p.Val515Glyfs) duplication Pathogenic rs398124275 GRCh38 Chromosome 2, 144399646: 144399646
42 ZEB2 NM_014795.3(ZEB2): c.2141C> T (p.Pro714Leu) single nucleotide variant Benign/Likely benign rs112581563 GRCh37 Chromosome 2, 145156613: 145156613
43 ZEB2 NM_014795.3(ZEB2): c.2141C> T (p.Pro714Leu) single nucleotide variant Benign/Likely benign rs112581563 GRCh38 Chromosome 2, 144399046: 144399046
44 ZEB2 NM_014795.3(ZEB2): c.2174_2177dupACTC (p.Leu728Phefs) duplication Pathogenic rs398124278 GRCh37 Chromosome 2, 145156577: 145156580
45 ZEB2 NM_014795.3(ZEB2): c.2174_2177dupACTC (p.Leu728Phefs) duplication Pathogenic rs398124278 GRCh38 Chromosome 2, 144399010: 144399013
46 ZEB2 NM_014795.3(ZEB2): c.2203C> T (p.Pro735Ser) single nucleotide variant Benign/Likely benign rs144154908 GRCh37 Chromosome 2, 145156551: 145156551
47 ZEB2 NM_014795.3(ZEB2): c.2203C> T (p.Pro735Ser) single nucleotide variant Benign/Likely benign rs144154908 GRCh38 Chromosome 2, 144398984: 144398984
48 ZEB2 NM_014795.3(ZEB2): c.2230A> G (p.Ile744Val) single nucleotide variant Benign/Likely benign rs112005830 GRCh37 Chromosome 2, 145156524: 145156524
49 ZEB2 NM_014795.3(ZEB2): c.2230A> G (p.Ile744Val) single nucleotide variant Benign/Likely benign rs112005830 GRCh38 Chromosome 2, 144398957: 144398957
50 ZEB2 NM_014795.3(ZEB2): c.2255C> T (p.Thr752Met) single nucleotide variant Conflicting interpretations of pathogenicity rs143438888 GRCh37 Chromosome 2, 145156499: 145156499

Copy number variations for Mowat-Wilson Syndrome from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 149721 2 91200000 148400000 Copy number ZFHX1B Mowat-Wilson syndrome

Expression for Mowat-Wilson Syndrome

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

Pathways for Mowat-Wilson Syndrome

GO Terms for Mowat-Wilson Syndrome

Sources for Mowat-Wilson Syndrome

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