MCID: MWT001
MIFTS: 47

Mowat-Wilson Syndrome

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

Aliases & Classifications for Mowat-Wilson Syndrome

MalaCards integrated aliases for Mowat-Wilson Syndrome:

Name: Mowat-Wilson Syndrome 53 12 72 23 49 24 55 71 36 28 13 41 14 69
Hirschsprung Disease-Mental Retardation Syndrome 53 24 71
Microcephaly, Mental Retardation, and Distinct Facial Features, with or Without Hirschsprung Disease 53 24
Hirschsprung Disease-Intellectual Disability Syndrome 23 55
Hirschsprung Disease Mental Retardation Syndrome 12 49
Mows 53 71
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 49
Microcephaly, Mental Retardation, Distinct Facial Features with or Without Hirschsprung Disease 71
Mws 24

Characteristics:

Orphanet epidemiological data:

55
mowat-wilson syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal;

OMIM:

53
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:

31
mowat-wilson syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

23
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 hirschsprung disease 1 and mowat-wilson syndrome due to monosomy 2q22, and has symptoms including constipation, seizures and hypertelorism. An important gene associated with Mowat-Wilson Syndrome is ZEB2 (Zinc Finger E-Box Binding Homeobox 2). Affiliated tissues include eye, heart and brain.

Genetics Home Reference : 24 Mowat-Wilson syndrome is a genetic condition that affects many parts of the body. Major signs of this disorder frequently include distinctive facial features, intellectual disability, delayed development, an intestinal disorder called Hirschsprung disease, and other birth defects.

NIH Rare Diseases : 49 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. Last updated: 7/10/2017

OMIM : 53 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 : 71 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: NBK1412

Related Diseases for Mowat-Wilson Syndrome

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 top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 hirschsprung disease 1 30.4 EDNRB GTDC1 ZEB2
2 mowat-wilson syndrome due to monosomy 2q22 12.3
3 mowat-wilson syndrome due to a zeb2 point mutation 12.2
4 muckle-wells syndrome 12.0
5 marden-walker syndrome 11.8
6 goldberg-shprintzen syndrome 11.3
7 cryopyrin-associated periodic syndrome 11.2
8 craniosynostosis 10.3
9 epilepsy 10.3
10 colonic disease 10.1 EDNRB ZEB2
11 autism 10.0
12 corpus callosum, agenesis of 10.0
13 aging 10.0
14 branchiootic syndrome 1 10.0
15 tracheobronchial stenosis, congenital 10.0
16 polymicrogyria, bilateral temporooccipital 10.0
17 alacrima, achalasia, and mental retardation syndrome 10.0
18 hypospadias 10.0
19 ehlers-danlos syndrome 10.0
20 status epilepticus 10.0
21 gingivitis 10.0
22 tracheal stenosis 10.0
23 rhabdomyosarcoma 10.0
24 laryngitis 10.0
25 gingival hypertrophy 10.0
26 polymicrogyria 10.0
27 congenital tracheal stenosis 10.0
28 dysphagia 10.0
29 megacolon 10.0 EDNRB ZEB2
30 leprosy 3 10.0
31 kala-azar 1 9.9
32 keratoconus 9.9
33 lepromatous leprosy 9.9
34 leishmaniasis 9.9
35 visceral leishmaniasis 9.9
36 wells syndrome 9.9
37 mental retardation and microcephaly with pontine and cerebellar hypoplasia 9.8 JAKMIP1 POGZ
38 b-cell growth factor 9.7
39 leukemia, chronic lymphocytic 2 9.7
40 hepatocellular carcinoma 9.7
41 cataract 32, multiple types 9.7
42 periodic fever, familial, autosomal dominant 9.7
43 leukemia, chronic lymphocytic 9.7
44 pemphigus vulgaris, familial 9.7
45 anemia, autoimmune hemolytic 9.7
46 familial mediterranean fever 9.7
47 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.7
48 hemolytic anemia 9.7
49 leukemia 9.7
50 pemphigus vulgaris 9.7

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



Diseases related to Mowat-Wilson Syndrome

Symptoms & Phenotypes for Mowat-Wilson Syndrome

Symptoms via clinical synopsis from OMIM:

53
Abdomen Gastroin testinal:
constipation
vomiting
barium enema shows transition zone between aganglionic contracted segment and dilated proximal bowel
megacolon

Head And Neck Eyes:
hypertelorism
ptosis
iris coloboma
downslanting palpebral fissures
deep-set eyes
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

Neurologic Central Nervous System:
seizures
hypoplasia of the corpus callosum
hypotonia
delayed motor development
agenesis of the corpus callosum
more
Chest External Features:
pectus excavatum
pectus carinatum

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

Human phenotypes related to Mowat-Wilson Syndrome:

55 31 (show top 50) (show all 82)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 55 31 very rare (1%) Occasional (29-5%) HP:0002019
2 seizures 55 31 very rare (1%) Frequent (79-30%) HP:0001250
3 hypertelorism 55 31 very rare (1%) Frequent (79-30%) HP:0000316
4 frontal bossing 55 31 hallmark (90%) Very frequent (99-80%) HP:0002007
5 finger syndactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0006101
6 high palate 55 31 frequent (33%) Frequent (79-30%) HP:0000218
7 nystagmus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000639
8 muscular hypotonia 55 31 frequent (33%) Frequent (79-30%) HP:0001252
9 wide nasal bridge 55 31 very rare (1%) Occasional (29-5%) HP:0000431
10 microcephaly 55 31 very rare (1%) Very frequent (99-80%) HP:0000252
11 short stature 55 31 very rare (1%) Frequent (79-30%) HP:0004322
12 broad hallux phalanx 55 31 occasional (7.5%) Occasional (29-5%) HP:0010059
13 cleft palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000175
14 ectopic kidney 55 31 occasional (7.5%) Occasional (29-5%) HP:0000086
15 strabismus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000486
16 patent ductus arteriosus 55 31 occasional (7.5%) Occasional (29-5%) HP:0001643
17 epicanthus 55 31 frequent (33%) Frequent (79-30%) HP:0000286
18 everted lower lip vermilion 55 31 frequent (33%) Frequent (79-30%) HP:0000232
19 cryptorchidism 55 31 very rare (1%) Frequent (79-30%) HP:0000028
20 external ear malformation 55 31 hallmark (90%) Very frequent (99-80%) HP:0008572
21 ventriculomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0002119
22 cerebral cortical atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0002120
23 aplasia/hypoplasia of the cerebellum 55 31 occasional (7.5%) Occasional (29-5%) HP:0007360
24 aganglionic megacolon 55 31 very rare (1%) Frequent (79-30%) HP:0002251
25 microphthalmia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000568
26 hypospadias 55 31 very rare (1%) Frequent (79-30%) HP:0000047
27 deeply set eye 55 31 very rare (1%) Very frequent (99-80%) HP:0000490
28 open mouth 55 31 frequent (33%) Frequent (79-30%) HP:0000194
29 vesicoureteral reflux 55 31 occasional (7.5%) Occasional (29-5%) HP:0000076
30 tetralogy of fallot 55 31 occasional (7.5%) Occasional (29-5%) HP:0001636
31 ventricular septal defect 55 31 occasional (7.5%) Occasional (29-5%) HP:0001629
32 fine hair 55 31 frequent (33%) Frequent (79-30%) HP:0002213
33 pointed chin 55 31 very rare (1%) Occasional (29-5%) HP:0000307
34 high forehead 55 31 hallmark (90%) Very frequent (99-80%) HP:0000348
35 hallux valgus 55 31 occasional (7.5%) Occasional (29-5%) HP:0001822
36 iris coloboma 55 31 very rare (1%) Occasional (29-5%) HP:0000612
37 camptodactyly of finger 55 31 occasional (7.5%) Occasional (29-5%) HP:0100490
38 bifid scrotum 55 31 very rare (1%) Occasional (29-5%) HP:0000048
39 cleft upper lip 55 31 occasional (7.5%) Occasional (29-5%) HP:0000204
40 large earlobe 55 31 very rare (1%) Very frequent (99-80%) HP:0009748
41 hydronephrosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000126
42 tapered finger 55 31 frequent (33%) Frequent (79-30%) HP:0001182
43 aplasia/hypoplasia of the corpus callosum 55 31 frequent (33%) Frequent (79-30%) HP:0007370
44 supernumerary nipple 55 31 occasional (7.5%) Occasional (29-5%) HP:0002558
45 deep plantar creases 55 31 occasional (7.5%) Occasional (29-5%) HP:0001869
46 broad columella 55 31 frequent (33%) Frequent (79-30%) HP:0010761
47 posteriorly rotated ears 55 31 frequent (33%) Frequent (79-30%) HP:0000358
48 uplifted earlobe 55 31 very rare (1%) Very frequent (99-80%) HP:0009909
49 vomiting 31 HP:0002013
50 pectus excavatum 31 HP:0000767

UMLS symptoms related to Mowat-Wilson Syndrome:


vomiting, seizures, constipation

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 28 ZEB2

Anatomical Context for Mowat-Wilson Syndrome

MalaCards organs/tissues related to Mowat-Wilson Syndrome:

38
Eye, Heart, Brain, Kidney, Cerebellum, Testes

Publications for Mowat-Wilson Syndrome

Articles related to Mowat-Wilson Syndrome:

(show top 50) (show all 83)
# Title Authors Year
1
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care. ( 29300384 )
2018
2
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
3
Critical involvement of ZEB2 in collagen fibrillogenesis: the molecular similarity between Mowat-Wilson syndrome and Ehlers-Danlos syndrome. ( 28422173 )
2017
4
Co-occurrence of rhabdomyosarcoma and Mowat-Wilson syndrome: is there a connection? ( 28230647 )
2017
5
Mowat-Wilson syndrome presenting with fever-associated seizures. ( 29258970 )
2017
6
Experience of Mowat-Wilson syndrome prenatal diagnosis for a Chinese family. ( 28096981 )
2017
7
A Novel Partial Duplication of ZEB2 and Review of ZEB2 Involvement in Mowat-Wilson Syndrome. ( 28690488 )
2017
8
Incontinence and psychological symptoms in individuals with Mowat-Wilson Syndrome. ( 28094084 )
2017
9
Electrical status epilepticus during sleep in Mowat-Wilson syndrome. ( 28501473 )
2017
10
Difficult airway in Mowat-Wilson syndrome. ( 27687363 )
2016
11
A Diagnosis to Consider in Intellectual Disability: Mowat-Wilson Syndrome. ( 26809768 )
2016
12
Novel Zeb2 gene variation in the Mowat Wilson syndrome (MWS). ( 26852091 )
2016
13
Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients. ( 27831545 )
2016
14
Anaesthetic management of Mowat-Wilson syndrome. ( 27141118 )
2016
15
Sleep disturbance in Mowat-Wilson syndrome. ( 26686679 )
2016
16
"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
17
Mowat-Wilson syndrome: neurological and molecular study in seven patients. ( 25608121 )
2015
18
Psychopharmacological Management of Problem Behaviors in Mowat-Wilson Syndrome. ( 26402313 )
2015
19
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
20
Polymicrogyria in a 10-month-old boy with Mowat-Wilson syndrome. ( 26012591 )
2015
21
Hirschsprung's disease in children with Mowat-Wilson syndrome. ( 26156877 )
2015
22
Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome. ( 25899569 )
2015
23
Mowat-Wilson syndrome. ( 25608118 )
2015
24
HIRSCHSPRUNG DISEASE ASSOCIATED WITH MOWAT-WILSON SYNDROME: REPORT OF A CASE. ( 25795985 )
2015
25
Ocular phenotype of Mowat-Wilson syndrome in the first reported Cypriot patients: an under-recognized association. ( 24263623 )
2014
26
ZEB2 Gene Mutation and Duplication of 22q11.23 in Mowat-Wilson Syndrome. ( 25028418 )
2014
27
Mowat-Wilson syndrome associated with craniosynostosis. ( 24300291 )
2014
28
The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations. ( 24715670 )
2014
29
Hirschsprung's disease associated with Mowat-Wilson syndrome. ( 24827654 )
2014
30
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
31
Mowat-Wilson syndrome detected by using high resolution microarray. ( 24029077 )
2013
32
Mowat-Wilson syndrome in a fetus with antenatal diagnosis of short corpus callosum: advocacy for standard autopsy. ( 23523603 )
2013
33
A new finding in a patient with Mowat Wilson syndrome: peripupillary atrophy and gingival hypertrophy. ( 23610866 )
2013
34
ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome. ( 23466526 )
2013
35
Vagus nerve stimulation for drug-resistant epilepsy in a patient with Mowat-Wilson syndrome. ( 23860154 )
2013
36
Mowat-Wilson syndrome: the first report of an association with central nervous system tumors. ( 24092421 )
2013
37
Recurrent structural malformations identified among Mowat-Wilson syndrome fetuses. ( 24375696 )
2013
38
Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype. ( 23322667 )
2013
39
Mowat-Wilson Syndrome: Deafness in the First Egyptian Case Who Was Conceived by Intracytoplasmic Sperm Injection. ( 24282181 )
2013
40
Epilepsy in Mowat-Wilson syndrome: is it a matter of GABA? ( 23815573 )
2013
41
Ophthalmologic abnormalities in Mowat-Wilson syndrome and a mutation in ZEB2. ( 22486326 )
2012
42
The behavioral phenotype of Mowat-Wilson syndrome. ( 22246645 )
2012
43
A case of Mowat-Wilson syndrome caused by a truncating mutation within exon 8 of the ZEB2 gene. ( 23427518 )
2012
44
A novel long-range enhancer regulates postnatal expression of Zeb2: implications for Mowat-Wilson syndrome phenotypes. ( 23001561 )
2012
45
Mowat-Wilson syndrome: the first clinical and molecular report of an indonesian patient. ( 23243526 )
2012
46
Clinical utility gene card for: Mowat-Wilson syndrome. ( 21343952 )
2011
47
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
48
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
49
Severe clinical course of Hirschsprung disease in a Mowat-Wilson syndrome patient. ( 20145308 )
2010
50
Mowat-Wilson syndrome with associated dysphagia. ( 20101699 )
2010

Variations for Mowat-Wilson Syndrome

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

71
# 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 97)
# Gene Variation Type Significance SNP ID Assembly Location
1 ZEB2 NM_014795.3(ZEB2): c.3211T> C (p.Ser1071Pro) single nucleotide variant Pathogenic rs397515448 GRCh37 Chromosome 2, 145147452: 145147452
2 ZEB2 NM_014795.3(ZEB2): c.3134A> G (p.His1045Arg) single nucleotide variant Pathogenic rs397515449 GRCh37 Chromosome 2, 145147529: 145147529
3 ZEB2 NM_014795.3(ZEB2): c.1381C> T (p.Gln461Ter) single nucleotide variant Pathogenic rs398124274 GRCh37 Chromosome 2, 145157373: 145157373
4 ZEB2 NM_014795.3(ZEB2): c.1541dupC (p.Val515Glyfs) duplication Pathogenic rs398124275 GRCh37 Chromosome 2, 145157213: 145157213
5 ZEB2 NM_014795.3(ZEB2): c.1586delC (p.Thr529Serfs) deletion Pathogenic rs398124276 GRCh37 Chromosome 2, 145157168: 145157168
6 ZEB2 NM_014795.3(ZEB2): c.2032delT (p.Ser678Profs) deletion Pathogenic rs398124277 GRCh37 Chromosome 2, 145156722: 145156722
7 ZEB2 NM_014795.3(ZEB2): c.2174_2177dupACTC (p.Leu728Phefs) duplication Pathogenic rs398124278 GRCh37 Chromosome 2, 145156577: 145156580
8 ZEB2 NM_014795.3(ZEB2): c.3359_3364delGGTACTinsTAATG (p.Gly1120Valfs) indel Pathogenic rs398124280 GRCh37 Chromosome 2, 145147299: 145147304
9 ZEB2 NM_014795.3(ZEB2): c.643_659del17 (p.Tyr215Glnfs) deletion Pathogenic rs398124281 GRCh37 Chromosome 2, 145161631: 145161647
10 ZEB2 NM_014795.3(ZEB2): c.73+2T> C single nucleotide variant Pathogenic rs398124282 GRCh37 Chromosome 2, 145274843: 145274843
11 ZEB2 NM_014795.3(ZEB2): c.782_783delTG (p.Val261Aspfs) deletion Pathogenic rs398124283 GRCh37 Chromosome 2, 145161507: 145161508
12 ZEB2 NM_014795.3(ZEB2): c.805C> T (p.Gln269Ter) single nucleotide variant Pathogenic rs398124284 GRCh37 Chromosome 2, 145161485: 145161485
13 ZEB2 NM_014795.3(ZEB2): c.2761C> T (p.Arg921Ter) single nucleotide variant Pathogenic rs587784566 GRCh38 Chromosome 2, 144398426: 144398426
14 ZEB2 NM_014795.3(ZEB2): c.2501delA (p.Lys834Argfs) deletion Pathogenic rs587784565 GRCh38 Chromosome 2, 144398686: 144398686
15 ZEB2 NM_014795.3(ZEB2): c.1956C> T (p.Tyr652=) single nucleotide variant Pathogenic rs587784563 GRCh38 Chromosome 2, 144399231: 144399231
16 ZEB2 NM_014795.3(ZEB2): c.904C> T (p.Arg302Ter) single nucleotide variant Pathogenic rs587784571 GRCh37 Chromosome 2, 145158778: 145158778
17 ZEB2 NM_014795.3(ZEB2): c.823C> T (p.Gln275Ter) single nucleotide variant Pathogenic rs587784570 GRCh38 Chromosome 2, 144401292: 144401292
18 ZEB2 NM_014795.3(ZEB2): c.550_568del19 (p.Ser184Argfs) deletion Pathogenic rs587784568 GRCh38 Chromosome 2, 144404860: 144404878
19 ZEB2 NM_014795.3(ZEB2): c.280G> T (p.Glu94Ter) single nucleotide variant Pathogenic rs727504228 GRCh37 Chromosome 2, 145187387: 145187387
20 ZEB2 NM_014795.3(ZEB2): c.1876G> T (p.Gly626Ter) single nucleotide variant Pathogenic rs727504224 GRCh37 Chromosome 2, 145156878: 145156878
21 ZEB2 NM_014795.3(ZEB2): c.3533delC (p.Thr1178Argfs) deletion Pathogenic rs727504223 GRCh37 Chromosome 2, 145147130: 145147130
22 ZEB2 NM_014795.3(ZEB2): c.1218delA (p.His407Thrfs) deletion Pathogenic rs727504226 GRCh37 Chromosome 2, 145157536: 145157536
23 ZEB2 NM_014795.3(ZEB2): c.930C> A (p.Tyr310Ter) single nucleotide variant Pathogenic rs6711223 GRCh37 Chromosome 2, 145157824: 145157824
24 ZEB2 NM_014795.3(ZEB2): c.304dupA (p.Ile102Asnfs) duplication Pathogenic rs786200997 GRCh37 Chromosome 2, 145187363: 145187363
25 ZEB2 NM_014795.3(ZEB2): c.289delT (p.Trp97Glyfs) deletion Pathogenic rs727503784 GRCh37 Chromosome 2, 145187378: 145187378
26 ZEB2 NM_014795.3(ZEB2): c.3499delA (p.Ser1167Valfs) deletion Pathogenic rs730881218 GRCh37 Chromosome 2, 145147164: 145147164
27 ZEB2 NM_014795.3(ZEB2): c.3195dupA (p.His1066Thrfs) duplication Pathogenic rs730881213 GRCh37 Chromosome 2, 145147468: 145147468
28 ZEB2 NM_014795.3(ZEB2): c.3073delA (p.Arg1025Aspfs) deletion Pathogenic rs730881217 GRCh37 Chromosome 2, 145147590: 145147590
29 ZEB2 NM_014795.3(ZEB2): c.3002delG (p.Cys1001Leufs) deletion Pathogenic rs730881212 GRCh37 Chromosome 2, 145154044: 145154044
30 ZEB2 NM_014795.3(ZEB2): c.2228_2229delCT (p.Ser743Tyrfs) deletion Pathogenic rs730881211 GRCh37 Chromosome 2, 145156525: 145156526
31 ZEB2 NM_014795.3(ZEB2): c.997delA (p.Lys333Asnfs) deletion Pathogenic rs730881208 GRCh37 Chromosome 2, 145157757: 145157757
32 ZEB2 NM_014795.3(ZEB2): c.178_190delACGAGTCCAGCTAinsGTT (p.Thr60Valfs) indel Pathogenic rs730881215 GRCh37 Chromosome 2, 145187477: 145187489
33 ZEB2 NM_014795.3(ZEB2): c.3068-?_(*5076_?)del deletion Pathogenic
34 ZEB2 NM_014795.3(ZEB2): c.404-?_(*5076_?)del deletion Pathogenic
35 ZEB2 NM_014795.3(ZEB2): c.3391_3400delCCGAGGGATG (p.Pro1131Alafs) deletion Pathogenic rs786204816 GRCh38 Chromosome 2, 144389696: 144389705
36 ZEB2 NM_014795.3(ZEB2): c.2687_2688dupCA (p.Ala897Glnfs) duplication Pathogenic rs786204804 GRCh38 Chromosome 2, 144398499: 144398500
37 ZEB2 NM_014795.3(ZEB2): c.2179_2180delTT (p.Leu727Ilefs) deletion Pathogenic rs786204810 GRCh38 Chromosome 2, 144399007: 144399008
38 ZEB2 NM_014795.3(ZEB2): c.2177_2180delCTTT (p.Ser726Tyrfs) deletion Pathogenic rs786204821 GRCh38 Chromosome 2, 144399007: 144399010
39 ZEB2 NM_014795.3(ZEB2): c.1966_1967delAT (p.Met656Valfs) deletion Pathogenic rs786204818 GRCh38 Chromosome 2, 144399220: 144399221
40 ZEB2 NM_014795.3(ZEB2): c.1944delC (p.Ile649Serfs) deletion Pathogenic rs786204803 GRCh38 Chromosome 2, 144399243: 144399243
41 ZEB2 NM_014795.3(ZEB2): c.1884delT (p.Phe628Leufs) deletion Pathogenic rs786204811 GRCh38 Chromosome 2, 144399303: 144399303
42 ZEB2 NM_014795.3(ZEB2): c.1754delT (p.Phe585Serfs) deletion Pathogenic rs786204809 GRCh38 Chromosome 2, 144399433: 144399433
43 ZEB2 NM_014795.3(ZEB2): c.1749C> A (p.Cys583Ter) single nucleotide variant Pathogenic rs786204808 GRCh38 Chromosome 2, 144399438: 144399438
44 ZEB2 NM_014795.3(ZEB2): c.1687delA (p.Ile563Terfs) deletion Pathogenic rs786204819 GRCh38 Chromosome 2, 144399500: 144399500
45 ZEB2 NM_014795.3(ZEB2): c.1653delC (p.Ser552Valfs) deletion Pathogenic rs786204820 GRCh38 Chromosome 2, 144399534: 144399534
46 ZEB2 NM_014795.3(ZEB2): c.1541_1542insA (p.Val515Glyfs) insertion Pathogenic rs398124275 GRCh38 Chromosome 2, 144399645: 144399646
47 ZEB2 NM_014795.3(ZEB2): c.1416_1420delCAGGC (p.Arg473Lysfs) deletion Pathogenic rs786204814 GRCh38 Chromosome 2, 144399767: 144399771
48 ZEB2 NM_014795.3(ZEB2): c.1277T> G (p.Leu426Ter) single nucleotide variant Pathogenic rs786204807 GRCh38 Chromosome 2, 144399910: 144399910
49 ZEB2 NM_014795.3(ZEB2): c.1257delG (p.Gly421Glufs) deletion Pathogenic rs786204801 GRCh38 Chromosome 2, 144399930: 144399930
50 ZEB2 NM_014795.3(ZEB2) indel Pathogenic rs786204805 GRCh38 Chromosome 2, 144400005: 144400015

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

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

# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.33 EDNRB MBD5 ZEB2
2 cellular response to lipopolysaccharide GO:0071222 9.26 EDNRB NLRP3
3 neural crest cell migration GO:0001755 8.96 EDNRB ZEB2
4 developmental pigmentation GO:0048066 8.62 EDNRB ZEB2

Sources for Mowat-Wilson Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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36 KEGG
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54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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