MCID: MWT001
MIFTS: 48

Mowat-Wilson Syndrome

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

Aliases & Classifications for Mowat-Wilson Syndrome

MalaCards integrated aliases for Mowat-Wilson Syndrome:

Name: Mowat-Wilson Syndrome 54 12 72 23 50 24 25 56 71 29 13 42 14 69
Hirschsprung Disease-Mental Retardation Syndrome 24 25 71
Hirschsprung Disease-Intellectual Disability Syndrome 23 56
Hirschsprung Disease Mental Retardation Syndrome 12 50
Microcephaly, Mental Retardation, and Distinct Facial Features, with or Without Hirschsprung Disease 25
Microcephaly, Mental Retardation, and Distinct Facial Featrues, with or Without Hirschprung Disease 12
Mental Retardation, Microcephaly, and Distinct Facial Features with or Without Hirschsprung Disease 50
Microcephaly, Mental Retardation, Distinct Facial Features with or Without Hirschsprung Disease 71
Mows 71
Mws 25

Characteristics:

Orphanet epidemiological data:

56
mowat-wilson syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal;

OMIM:

54
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:

32
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 mowat-wilson syndrome due to monosomy 2q22 and mowat-wilson syndrome due to a zeb2 point mutation, and has symptoms including short stature, nystagmus and strabismus. 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 : 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 : 50 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 : 54
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 all 45)
id Related Disease Score Top Affiliating Genes
1 mowat-wilson syndrome due to monosomy 2q22 12.2
2 mowat-wilson syndrome due to a zeb2 point mutation 12.1
3 muckle-wells syndrome 11.7
4 marden-walker syndrome 11.6
5 goldberg-shprintzen megacolon syndrome 11.2
6 cryopyrin-associated periodic syndrome 11.1
7 craniosynostosis 10.3
8 wolffian duct adenocarcinoma 10.2 EDNRB ZEB2
9 epilepsy 10.2
10 spinal meningioma 10.1 EDNRB ZEB2
11 ehlers-danlos syndrome 10.0
12 polymicrogyria 10.0
13 status epilepticus 10.0
14 congenital tracheal stenosis 10.0
15 corpus callosum agenesis 10.0
16 gingivitis 10.0
17 intellectual disability 10.0
18 tracheal stenosis 10.0
19 dysphagia 10.0
20 rhabdomyosarcoma 10.0
21 laryngitis 10.0
22 gingival hypertrophy 10.0
23 hypospadias 10.0
24 leprosy 9.9
25 myasthenic syndrome, congenital, 21, presynaptic 9.8 EDNRB ZEB2
26 wells syndrome 9.8
27 keratoconus 9.8
28 leishmaniasis 9.8
29 lepromatous leprosy 9.8
30 visceral leishmaniasis 9.8
31 septooptic dysplasia 9.8 JAKMIP1 POGZ
32 night blindness, congenital stationary , 1a, x-linked 9.6 JAKMIP1 POGZ ZEB2
33 hepatocellular carcinoma 9.6
34 melanoma 9.6
35 dermatitis 9.6
36 hiv-1 9.6
37 chronic lymphocytic leukemia 9.6
38 hemolytic anemia 9.6
39 granulomatous dermatitis 9.6
40 leukemia 9.6
41 autoimmune hemolytic anemia 9.6
42 pemphigus vulgaris 9.6
43 borderline leprosy 9.6
44 amyloidosis 9.6
45 pemphigus 9.6

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:

54

Growth- Height:
short stature

Head And Neck- Eyes:
downslanting palpebral fissures
ptosis
hypertelorism
iris coloboma
deep-set eyes
more
Head And Neck- Mouth:
submucous cleft palate
drooling

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

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

Genitourinary- Internal Genitalia Male:
cryptorchidism

Head And Neck- Teeth:
delayed tooth eruption
widely spaced teeth
malpositioned teeth

Head And Neck- Ears:
cupped ears
fleshy upturned lobules

Skin Nails & Hair- Hair:
broad eyebrows
medially flared eyebrows

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

Neurologic- Central Nervous System:
hypotonia
delayed motor development
seizures
hypoplasia of the corpus callosum
agenesis of the corpus callosum
more
Head And Neck- Head:
microcephaly
pointed chin

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

Genitourinary- External Genitalia Male:
hypospadias
bifid scrotum

Chest- External Features:
pectus carinatum
pectus excavatum

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

Neurologic- Behavioral Psychiatric Manifestations:
happy demeanor
repetitive behaviors
oral behaviors

Abdomen- External Features:
abdominal distention

Chest- Breasts:
accessory nipple


Clinical features from OMIM:

235730

Human phenotypes related to Mowat-Wilson Syndrome:

56 32 (show top 50) (show all 80)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 very rare (1%) Frequent (79-30%) HP:0004322
2 nystagmus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000639
3 strabismus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000486
4 ventriculomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0002119
5 seizures 56 32 very rare (1%) Frequent (79-30%) HP:0001250
6 high forehead 56 32 hallmark (90%) Very frequent (99-80%) HP:0000348
7 microcephaly 56 32 very rare (1%) Very frequent (99-80%) HP:0000252
8 hypertelorism 56 32 very rare (1%) Frequent (79-30%) HP:0000316
9 cleft palate 56 32 occasional (7.5%) Occasional (29-5%) HP:0000175
10 patent ductus arteriosus 56 32 occasional (7.5%) Occasional (29-5%) HP:0001643
11 hypospadias 56 32 very rare (1%) Frequent (79-30%) HP:0000047
12 microphthalmia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000568
13 frontal bossing 56 32 hallmark (90%) Very frequent (99-80%) HP:0002007
14 posteriorly rotated ears 56 32 frequent (33%) Frequent (79-30%) HP:0000358
15 hydronephrosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000126
16 cryptorchidism 56 32 very rare (1%) Frequent (79-30%) HP:0000028
17 iris coloboma 56 32 very rare (1%) Occasional (29-5%) HP:0000612
18 ventricular septal defect 56 32 occasional (7.5%) Occasional (29-5%) HP:0001629
19 tetralogy of fallot 56 32 occasional (7.5%) Occasional (29-5%) HP:0001636
20 cerebral cortical atrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0002120
21 wide nasal bridge 56 32 very rare (1%) Occasional (29-5%) HP:0000431
22 open mouth 56 32 frequent (33%) Frequent (79-30%) HP:0000194
23 bifid scrotum 56 32 very rare (1%) Occasional (29-5%) HP:0000048
24 constipation 56 32 very rare (1%) Occasional (29-5%) HP:0002019
25 vesicoureteral reflux 56 32 occasional (7.5%) Occasional (29-5%) HP:0000076
26 pointed chin 56 32 very rare (1%) Occasional (29-5%) HP:0000307
27 finger syndactyly 56 32 occasional (7.5%) Occasional (29-5%) HP:0006101
28 hallux valgus 56 32 occasional (7.5%) Occasional (29-5%) HP:0001822
29 high palate 56 32 frequent (33%) Frequent (79-30%) HP:0000218
30 epicanthus 56 32 frequent (33%) Frequent (79-30%) HP:0000286
31 fine hair 56 32 frequent (33%) Frequent (79-30%) HP:0002213
32 muscular hypotonia 56 32 frequent (33%) Frequent (79-30%) HP:0001252
33 ectopic kidney 56 32 occasional (7.5%) Occasional (29-5%) HP:0000086
34 aganglionic megacolon 56 32 very rare (1%) Frequent (79-30%) HP:0002251
35 deep plantar creases 56 32 occasional (7.5%) Occasional (29-5%) HP:0001869
36 everted lower lip vermilion 56 32 frequent (33%) Frequent (79-30%) HP:0000232
37 supernumerary nipple 56 32 occasional (7.5%) Occasional (29-5%) HP:0002558
38 broad columella 56 32 frequent (33%) Frequent (79-30%) HP:0010761
39 external ear malformation 56 32 hallmark (90%) Very frequent (99-80%) HP:0008572
40 broad hallux phalanx 56 32 occasional (7.5%) Occasional (29-5%) HP:0010059
41 aplasia/hypoplasia of the cerebellum 56 32 occasional (7.5%) Occasional (29-5%) HP:0007360
42 abnormality of the eyebrow 56 32 hallmark (90%) Very frequent (99-80%) HP:0000534
43 deeply set eye 56 32 very rare (1%) Very frequent (99-80%) HP:0000490
44 camptodactyly of finger 56 32 occasional (7.5%) Occasional (29-5%) HP:0100490
45 cleft upper lip 56 32 occasional (7.5%) Occasional (29-5%) HP:0000204
46 large earlobe 56 32 very rare (1%) Very frequent (99-80%) HP:0009748
47 tapered finger 56 32 frequent (33%) Frequent (79-30%) HP:0001182
48 aplasia/hypoplasia of the corpus callosum 56 32 frequent (33%) Frequent (79-30%) HP:0007370
49 uplifted earlobe 56 32 very rare (1%) Very frequent (99-80%) HP:0009909
50 absent speech 32 HP:0001344

UMLS symptoms related to Mowat-Wilson Syndrome:


constipation, seizures, 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:

id Genetic test Affiliating Genes
1 Mowat-Wilson Syndrome 29 24 ZEB2

Anatomical Context for Mowat-Wilson Syndrome

MalaCards organs/tissues related to Mowat-Wilson Syndrome:

39
Eye, Heart, Brain, Kidney, Cerebellum, Testes

Publications for Mowat-Wilson Syndrome

Articles related to Mowat-Wilson Syndrome:

(show top 50) (show all 81)
id Title Authors Year
1
Experience of Mowat-Wilson syndrome prenatal diagnosis for a Chinese family. ( 28096981 )
2017
2
A Novel Partial Duplication of ZEB2 and Review of ZEB2 Involvement in Mowat-Wilson Syndrome. ( 28690488 )
2017
3
Co-occurrence of rhabdomyosarcoma and Mowat-Wilson syndrome: is there a connection? ( 28230647 )
2017
4
Electrical status epilepticus during sleep in Mowat-Wilson syndrome. ( 28501473 )
2017
5
Incontinence and psychological symptoms in individuals with Mowat-Wilson Syndrome. ( 28094084 )
2017
6
Critical involvement of ZEB2 in collagen fibrillogenesis: the molecular similarity between Mowat-Wilson syndrome and Ehlers-Danlos syndrome. ( 28422173 )
2017
7
Difficult airway in Mowat-Wilson syndrome. ( 27687363 )
2016
8
A Diagnosis to Consider in Intellectual Disability: Mowat-Wilson Syndrome. ( 26809768 )
2016
9
Anaesthetic management of Mowat-Wilson syndrome. ( 27141118 )
2016
10
Sleep disturbance in Mowat-Wilson syndrome. ( 26686679 )
2016
11
Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients. ( 27831545 )
2016
12
Novel Zeb2 gene variation in the Mowat Wilson syndrome (MWS). ( 26852091 )
2016
13
Psychopharmacological Management of Problem Behaviors in Mowat-Wilson Syndrome. ( 26402313 )
2015
14
Mowat-Wilson syndrome: neurological and molecular study in seven patients. ( 25608121 )
2015
15
Mowat-Wilson syndrome. ( 25608118 )
2015
16
Hirschsprung's disease in children with Mowat-Wilson syndrome. ( 26156877 )
2015
17
Polymicrogyria in a 10-month-old boy with Mowat-Wilson syndrome. ( 26012591 )
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
HIRSCHSPRUNG DISEASE ASSOCIATED WITH MOWAT-WILSON SYNDROME: REPORT OF A CASE. ( 25795985 )
2015
20
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
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
Mowat-Wilson syndrome associated with craniosynostosis. ( 24300291 )
2014
24
ZEB2 Gene Mutation and Duplication of 22q11.23 in Mowat-Wilson Syndrome. ( 25028418 )
2014
25
Hirschsprung's disease associated with Mowat-Wilson syndrome. ( 24827654 )
2014
26
Ocular phenotype of Mowat-Wilson syndrome in the first reported Cypriot patients: an under-recognized association. ( 24263623 )
2014
27
The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations. ( 24715670 )
2014
28
Mowat-Wilson syndrome detected by using high resolution microarray. ( 24029077 )
2013
29
Mowat-Wilson Syndrome: Deafness in the First Egyptian Case Who Was Conceived by Intracytoplasmic Sperm Injection. ( 24282181 )
2013
30
Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype. ( 23322667 )
2013
31
Vagus nerve stimulation for drug-resistant epilepsy in a patient with Mowat-Wilson syndrome. ( 23860154 )
2013
32
Mowat-Wilson syndrome: the first report of an association with central nervous system tumors. ( 24092421 )
2013
33
Mowat-Wilson syndrome in a fetus with antenatal diagnosis of short corpus callosum: advocacy for standard autopsy. ( 23523603 )
2013
34
Recurrent structural malformations identified among Mowat-Wilson syndrome fetuses. ( 24375696 )
2013
35
A new finding in a patient with Mowat Wilson syndrome: peripupillary atrophy and gingival hypertrophy. ( 23610866 )
2013
36
Epilepsy in Mowat-Wilson syndrome: is it a matter of GABA? ( 23815573 )
2013
37
ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome. ( 23466526 )
2013
38
The behavioral phenotype of Mowat-Wilson syndrome. ( 22246645 )
2012
39
A case of Mowat-Wilson syndrome caused by a truncating mutation within exon 8 of the ZEB2 gene. ( 23427518 )
2012
40
Mowat-Wilson syndrome: the first clinical and molecular report of an indonesian patient. ( 23243526 )
2012
41
Ophthalmologic abnormalities in Mowat-Wilson syndrome and a mutation in ZEB2. ( 22486326 )
2012
42
A novel long-range enhancer regulates postnatal expression of Zeb2: implications for Mowat-Wilson syndrome phenotypes. ( 23001561 )
2012
43
Clinical utility gene card for: Mowat-Wilson syndrome. ( 21343952 )
2011
44
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
45
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
46
Severe clinical course of Hirschsprung disease in a Mowat-Wilson syndrome patient. ( 20145308 )
2010
47
Mowat-Wilson syndrome with associated dysphagia. ( 20101699 )
2010
48
Supernumerary intestinal muscle coat in a patient with Hirschsprung disease/Mowat-Wilson syndrome. ( 20158378 )
2010
49
Mowat-Wilson syndrome: the first two Malaysian cases. ( 20428734 )
2010
50
Second-trimester detection of Mowat-Wilson syndrome using comparative genomic hybridization microarray testing. ( 20093881 )
2010

Variations for Mowat-Wilson Syndrome

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

71
id 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 92)
id Gene Variation Type Significance SNP ID Assembly Location
1 ZEB2 NM_014795.3(ZEB2): c.2453dupT (p.Leu818Phefs) duplication Pathogenic rs587776606 GRCh37 Chromosome 2, 145156301: 145156301
2 ZEB2 NM_014795.3(ZEB2): c.1645A> T (p.Arg549Ter) single nucleotide variant Pathogenic rs137852980 GRCh37 Chromosome 2, 145157109: 145157109
3 ZEB2 NM_014795.3(ZEB2): c.2083C> T (p.Arg695Ter) single nucleotide variant Pathogenic rs137852981 GRCh37 Chromosome 2, 145156671: 145156671
4 ZEB2 NM_014795.3(ZEB2): c.1173_1176delAACA (p.Thr392Asnfs) deletion Pathogenic rs587776603 GRCh37 Chromosome 2, 145157578: 145157581
5 ZEB2 NM_014795.3(ZEB2): c.1426dupA (p.Met476Asnfs) duplication Pathogenic rs587776604 GRCh37 Chromosome 2, 145157328: 145157328
6 ZEB2 NM_014795.3(ZEB2): c.760_761dupAC (p.Gln255Profs) duplication Pathogenic rs587776605 GRCh37 Chromosome 2, 145161529: 145161530
7 ZEB2 NM_014795.3(ZEB2): c.1892delA (p.Asn631Ilefs) deletion Pathogenic rs587776607 GRCh37 Chromosome 2, 145156862: 145156862
8 ZEB2 NM_014795.3(ZEB2): c.553_554insTG (p.Arg185Leufs) insertion Pathogenic rs587776608 GRCh37 Chromosome 2, 145162441: 145162442
9 ZEB2 NM_014795.3(ZEB2): c.2555C> G (p.Ser852Ter) single nucleotide variant Pathogenic rs137852982 GRCh37 Chromosome 2, 145156199: 145156199
10 ZEB2 NM_014795.3(ZEB2): c.3566_3567dupCC (p.Met1190Profs) duplication Pathogenic rs587776609 GRCh37 Chromosome 2, 145147096: 145147097
11 ZEB2 NC_000002.12 deletion Pathogenic GRCh38 Chromosome 2, 144114719: 144681958
12 ZEB2 NM_014795.3(ZEB2): c.1862delT (p.Val621Alafs) deletion Pathogenic rs587776611 GRCh37 Chromosome 2, 145156892: 145156892
13 ZEB2 NM_014795.3(ZEB2): c.-69-1G> A single nucleotide variant Pathogenic rs587776612 GRCh37 Chromosome 2, 145274987: 145274987
14 ZEB2 NM_014795.3(ZEB2): c.3356A> G (p.Gln1119Arg) single nucleotide variant Pathogenic rs137852983 GRCh37 Chromosome 2, 145147307: 145147307
15 ZEB2 NM_014795.3(ZEB2): c.3211T> C (p.Ser1071Pro) single nucleotide variant Pathogenic rs397515448 GRCh37 Chromosome 2, 145147452: 145147452
16 ZEB2 NM_014795.3(ZEB2): c.3134A> G (p.His1045Arg) single nucleotide variant Pathogenic rs397515449 GRCh37 Chromosome 2, 145147529: 145147529
17 ZEB2 NM_014795.3(ZEB2): c.1381C> T (p.Gln461Ter) single nucleotide variant Pathogenic rs398124274 GRCh37 Chromosome 2, 145157373: 145157373
18 ZEB2 NM_014795.3(ZEB2): c.1541dupC (p.Val515Glyfs) duplication Pathogenic rs398124275 GRCh37 Chromosome 2, 145157213: 145157213
19 ZEB2 NM_014795.3(ZEB2): c.1586delC (p.Thr529Serfs) deletion Pathogenic rs398124276 GRCh37 Chromosome 2, 145157168: 145157168
20 ZEB2 NM_014795.3(ZEB2): c.2032delT (p.Ser678Profs) deletion Pathogenic rs398124277 GRCh37 Chromosome 2, 145156722: 145156722
21 ZEB2 NM_014795.3(ZEB2): c.2174_2177dupACTC (p.Leu728Phefs) duplication Pathogenic rs398124278 GRCh37 Chromosome 2, 145156577: 145156580
22 ZEB2 NM_014795.3(ZEB2): c.3359_3364delGGTACTinsTAATG (p.Gly1120Valfs) indel Pathogenic rs398124280 GRCh37 Chromosome 2, 145147299: 145147304
23 ZEB2 NM_014795.3(ZEB2): c.643_659del17 (p.Tyr215Glnfs) deletion Pathogenic rs398124281 GRCh37 Chromosome 2, 145161631: 145161647
24 ZEB2 NM_014795.3(ZEB2): c.73+2T> C single nucleotide variant Pathogenic rs398124282 GRCh37 Chromosome 2, 145274843: 145274843
25 ZEB2 NM_014795.3(ZEB2): c.782_783delTG (p.Val261Aspfs) deletion Pathogenic rs398124283 GRCh37 Chromosome 2, 145161507: 145161508
26 ZEB2 NM_014795.3(ZEB2): c.805C> T (p.Gln269Ter) single nucleotide variant Pathogenic rs398124284 GRCh37 Chromosome 2, 145161485: 145161485
27 ZEB2 NM_014795.3(ZEB2): c.2761C> T (p.Arg921Ter) single nucleotide variant Pathogenic rs587784566 GRCh37 Chromosome 2, 145155993: 145155993
28 ZEB2 NM_014795.3(ZEB2): c.2501delA (p.Lys834Argfs) deletion Pathogenic rs587784565 GRCh37 Chromosome 2, 145156253: 145156253
29 ZEB2 NM_014795.3(ZEB2): c.1956C> T (p.Tyr652=) single nucleotide variant Pathogenic rs587784563 GRCh37 Chromosome 2, 145156798: 145156798
30 ZEB2 NM_014795.3(ZEB2): c.904C> T (p.Arg302Ter) single nucleotide variant Pathogenic rs587784571 GRCh37 Chromosome 2, 145158778: 145158778
31 ZEB2 NM_014795.3(ZEB2): c.823C> T (p.Gln275Ter) single nucleotide variant Pathogenic rs587784570 GRCh38 Chromosome 2, 144401292: 144401292
32 ZEB2 NM_014795.3(ZEB2): c.550_568del19 (p.Ser184Argfs) deletion Pathogenic rs587784568 GRCh38 Chromosome 2, 144404860: 144404878
33 ZEB2 NM_014795.3(ZEB2): c.280G> T (p.Glu94Ter) single nucleotide variant Pathogenic rs727504228 GRCh38 Chromosome 2, 144429820: 144429820
34 ZEB2 NM_014795.3(ZEB2): c.1876G> T (p.Gly626Ter) single nucleotide variant Pathogenic rs727504224 GRCh37 Chromosome 2, 145156878: 145156878
35 ZEB2 NM_014795.3(ZEB2): c.3533delC (p.Thr1178Argfs) deletion Pathogenic rs727504223 GRCh37 Chromosome 2, 145147130: 145147130
36 ZEB2 NM_014795.3(ZEB2): c.1218delA (p.His407Thrfs) deletion Pathogenic rs727504226 GRCh37 Chromosome 2, 145157536: 145157536
37 ZEB2 NM_014795.3(ZEB2): c.930C> A (p.Tyr310Ter) single nucleotide variant Pathogenic rs6711223 GRCh37 Chromosome 2, 145157824: 145157824
38 ZEB2 NM_014795.3(ZEB2): c.304dupA (p.Ile102Asnfs) duplication Pathogenic rs786200997 GRCh37 Chromosome 2, 145187363: 145187363
39 ZEB2 NM_014795.3(ZEB2): c.289delT (p.Trp97Glyfs) deletion Pathogenic rs727503784 GRCh37 Chromosome 2, 145187378: 145187378
40 ZEB2 NM_014795.3(ZEB2): c.3499delA (p.Ser1167Valfs) deletion Pathogenic rs730881218 GRCh37 Chromosome 2, 145147164: 145147164
41 ZEB2 NM_014795.3(ZEB2): c.3195dupA (p.His1066Thrfs) duplication Pathogenic rs730881213 GRCh37 Chromosome 2, 145147468: 145147468
42 ZEB2 NM_014795.3(ZEB2): c.3073delA (p.Arg1025Aspfs) deletion Pathogenic rs730881217 GRCh37 Chromosome 2, 145147590: 145147590
43 ZEB2 NM_014795.3(ZEB2): c.3002delG (p.Cys1001Leufs) deletion Pathogenic rs730881212 GRCh37 Chromosome 2, 145154044: 145154044
44 ZEB2 NM_014795.3(ZEB2): c.2228_2229delCT (p.Ser743Tyrfs) deletion Pathogenic rs730881211 GRCh37 Chromosome 2, 145156525: 145156526
45 ZEB2 NM_014795.3(ZEB2): c.997delA (p.Lys333Asnfs) deletion Pathogenic rs730881208 GRCh37 Chromosome 2, 145157757: 145157757
46 ZEB2 NM_014795.3(ZEB2): c.178_190delACGAGTCCAGCTAinsGTT (p.Thr60Valfs) indel Pathogenic rs730881215 GRCh37 Chromosome 2, 145187477: 145187489
47 ZEB2 NM_014795.3(ZEB2): c.3068-?_(*5076_?)del deletion Pathogenic
48 ZEB2 NM_014795.3(ZEB2): c.404-?_(*5076_?)del deletion Pathogenic
49 ZEB2 NM_014795.3(ZEB2): c.3391_3400delCCGAGGGATG (p.Pro1131Alafs) deletion Pathogenic rs786204816 GRCh38 Chromosome 2, 144389696: 144389705
50 ZEB2 NM_014795.3(ZEB2): c.2687_2688dupCA (p.Ala897Glnfs) duplication Pathogenic rs786204804 GRCh38 Chromosome 2, 144398499: 144398500

Copy number variations for Mowat-Wilson Syndrome from CNVD:

7
id 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:

id Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.33 EDNRB MBD5 ZEB2
2 neural crest cell migration GO:0001755 8.96 EDNRB ZEB2
3 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....