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MOWS
MCID: MWT001
MIFTS: 55

Mowat-Wilson Syndrome (MOWS)

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Mowat-Wilson Syndrome

About this section

MalaCards integrated aliases for Mowat-Wilson Syndrome:

Name: Mowat-Wilson Syndrome 57 12 74 25 20 43 58 73 36 29 13 6 44 15 71
Hirschsprung Disease-Mental Retardation Syndrome 57 43 73
Microcephaly, Mental Retardation, and Distinct Facial Features, with or Without Hirschsprung Disease 57 43
Mows 57 73
Intellectual Disability, Microcephaly, and Distinct Facial Features with or Without Hirschsprung Disease 20
Microcephaly, Mental Retardation, and Distinct Facial Featrues, with or Without Hirschprung Disease 12
Microcephaly, Mental Retardation, Distinct Facial Features with or Without Hirschsprung Disease 73
Hirschsprung Disease and Intellectual Disability Due to a Zeb2 Point Mutation 58
Hirschsprung Disease and Intellectual Disability Due to 2q22 Microdeletion 58
Hirschsprung Disease and Intellectual Disability Due to Monosomy 2q22 58
Hirschsprung Disease and Intellectual Disability Due to Del(2)(q22) 58
Hirschsprung Disease - Intellectual Disability Syndrome 25
Hirschsprung Disease Intellectual Disability Syndrome 20
Hirschsprung Disease-Intellectual Disability Syndrome 58
Mowat-Wilson Syndrome Due to a Zeb2 Point Mutation 58
Hirschsprung Disease Mental Retardation Syndrome 12
Mowat-Wilson Syndrome Due to 2q22 Microdeletion 58
Mowat-Wilson Syndrome Due to Monosomy 2q22 58
Mowat-Wilson Syndrome Due to Del(2)q(22) 58
Syndrome, Mowat-Wilson 39
Mws 43

Characteristics:

Orphanet epidemiological data:

58
mowat-wilson syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal;

OMIM®:

57 (Updated 05-Mar-2021)
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


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060485
OMIM® 57 235730
KEGG 36 H00908
NCIt 50 C74999
SNOMED-CT 67 703535000
MESH via Orphanet 45 C536990
ICD10 via Orphanet 33 Q43.1
UMLS via Orphanet 72 C1856113
MedGen 41 C1856113
SNOMED-CT via HPO 68 109504005 111266001 11296007 more
UMLS 71 C1856113
Sources

Summaries for Mowat-Wilson Syndrome

About this section
MedlinePlus Genetics : 43 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.Children with Mowat-Wilson syndrome have a square-shaped face with deep-set, widely spaced eyes. They also have a broad nasal bridge with a rounded nasal tip; a prominent and pointed chin; large, flaring eyebrows; and uplifted earlobes with a dimple in the middle. These facial features become more distinctive with age, and adults with Mowat-Wilson syndrome have an elongated face with heavy eyebrows and a pronounced chin and jaw. Affected people tend to have a smiling, open-mouthed expression, and they typically have friendly and happy personalities.Mowat-Wilson syndrome is often associated with an unusually small head (microcephaly), structural brain abnormalities, and intellectual disability ranging from moderate to severe. Speech is absent or severely impaired, and affected people may learn to speak only a few words. Many people with this condition can understand others' speech, however, and some use sign language to communicate. If speech develops, it is delayed until mid-childhood or later. Children with Mowat-Wilson syndrome also have delayed development of motor skills such as sitting, standing, and walking.More than half of people with Mowat-Wilson syndrome are born with an intestinal disorder called Hirschsprung disease that causes severe constipation, intestinal blockage, and enlargement of the colon. Chronic constipation also occurs frequently in people with Mowat-Wilson syndrome who have not been diagnosed with Hirschsprung disease.Other features of Mowat-Wilson syndrome include short stature, seizures, heart defects, and abnormalities of the urinary tract and genitalia. Less commonly, this condition also affects the eyes, teeth, hands, and skin coloring (pigmentation). Although many different medical issues have been associated with Mowat-Wilson syndrome, not every individual with this condition has all of these features.

MalaCards based summary : Mowat-Wilson Syndrome, also known as hirschsprung disease-mental retardation syndrome, is related to hirschsprung disease 1 and megacolon, 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). The drugs Benzocaine and tannic acid have been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and cerebellum, and related phenotypes are intellectual disability and frontal bossing

Disease Ontology : 12 A syndrome characterized by distinctive facial features, intellectual disability, delayed development, Hirschsprung disease and has material basis in de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22.

GARD : 20 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® : 57 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) (Updated 05-Mar-2021)

KEGG : 36 Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease, genitourinary anomalies, congenital heart defects, agenesis of the corpus callosum and eye anomalies. MWS is caused by heterozygous mutations or deletions of the ZEB2/ZFHX1B gene.

UniProtKB/Swiss-Prot : 73 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 : 74 Mowat-Wilson syndrome is a rare genetic disorder that was clinically delineated by Dr. David R. Mowat... more...

GeneReviews: NBK1412
Sources

Related Diseases for Mowat-Wilson Syndrome

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

(show top 50) (show all 81)
# Related Disease Score Top Affiliating Genes
1 hirschsprung disease 1 32.4 ZEB2 TLX2 SOX10 KIFBP GTDC1
2 megacolon 30.5 ZEB2 TLX2 SOX10 KIFBP
3 muckle-wells syndrome 11.6
4 marden-walker syndrome 11.5
5 goldberg-shprintzen syndrome 11.2
6 cryopyrin-associated periodic syndrome 11.0
7 alacrima, achalasia, and mental retardation syndrome 10.8
8 microcephaly 10.8
9 hypospadias 10.6
10 constipation 10.5
11 corpus callosum, agenesis of 10.4
12 microphthalmia 10.4
13 epilepsy 10.4
14 craniosynostosis 10.4
15 seizure disorder 10.4
16 meier-gorlin syndrome 2 10.3 ZEB2 LRP1B GTDC1 ARHGAP15
17 epilepsy, idiopathic generalized 9 10.3 ZEB2 LRP1B GTDC1 ARHGAP15
18 coloboma of macula 10.3
19 status epilepticus 10.3
20 hypotonia 10.3
21 cerebral creatine deficiency syndrome 1 10.3 SLC9A7 SLC9A6
22 central hypoventilation syndrome, congenital 10.2 ZEB2 TLX2 SOX10 KIFBP
23 angelman syndrome 10.2
24 hypertelorism 10.2
25 enterocolitis 10.2
26 christianson syndrome 10.2 UBE3A SLC9A7 SLC9A6 MBD5 FOXG1
27 congenital nervous system abnormality 10.2 UBE3A SLC9A6 FOXG1
28 gene duplication disease 10.2 UBE3A FOXG1
29 pitt-hopkins syndrome 10.2 ZEB2 UBE3A SLC9A7 SLC9A6 MBD5 FOXG1
30 early infantile epileptic encephalopathy 10.1 UBE3A SLC9A7 SLC9A6 MBD5 FOXG1
31 wells syndrome 10.1
32 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 10.1 SLC9A7 SLC9A6
33 medulloblastoma 10.1
34 optic nerve hypoplasia, bilateral 10.1
35 otitis media 10.1
36 retinal aplasia 10.1
37 strabismus 10.1
38 autism 10.1
39 charge syndrome 10.1
40 corpus callosum, partial agenesis of, x-linked 10.1
41 branchiootic syndrome 1 10.1
42 tracheobronchial stenosis, congenital 10.1
43 patent ductus arteriosus 1 10.1
44 choanal atresia, posterior 10.1
45 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.1
46 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.1
47 purpura fulminans 10.1
48 intestinal pseudo-obstruction 10.1
49 sensorineural hearing loss 10.1
50 ehlers-danlos syndrome 10.1

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



Diseases related to Mowat-Wilson Syndrome
Sources

Symptoms & Phenotypes for Mowat-Wilson Syndrome

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Human phenotypes related to Mowat-Wilson Syndrome:

58 31 (show top 50) (show all 195)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001249
2 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%),Occasional (29-5%) HP:0002007
3 abnormal facial shape 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001999
4 microcephaly 58 31 very rare (1%) Very frequent (99-80%) HP:0000252
5 absent speech 58 31 very rare (1%) Very frequent (99-80%),Very frequent (99-80%) HP:0001344
6 external ear malformation 58 31 hallmark (90%) Very frequent (99-80%) HP:0008572
7 deeply set eye 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%),Frequent (79-30%) HP:0000490
8 high forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000348
9 large earlobe 58 31 hallmark (90%) Very frequent (99-80%) HP:0009748
10 expressive language delay 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002474
11 uplifted earlobe 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%),Frequent (79-30%) HP:0009909
12 happy demeanor 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0040082
13 abnormal eyebrow morphology 31 hallmark (90%) HP:0000534
14 spasticity 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001257
15 agenesis of corpus callosum 58 31 very rare (1%) Frequent (79-30%),Frequent (79-30%) HP:0001274
16 failure to thrive 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001508
17 eeg abnormality 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002353
18 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
19 bowel incontinence 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002607
20 hypertelorism 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%),Occasional (29-5%) HP:0000316
21 mandibular prognathia 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000303
22 wide nasal bridge 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%),Frequent (79-30%) HP:0000431
23 short stature 58 31 very rare (1%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0004322
24 stereotypy 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000733
25 thick lower lip vermilion 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000179
26 everted lower lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000232
27 cryptorchidism 58 31 very rare (1%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0000028
28 recurrent otitis media 58 31 very rare (1%) Frequent (79-30%),Frequent (79-30%) HP:0000403
29 epicanthus 58 31 frequent (33%) Frequent (79-30%),Very rare (<4-1%) HP:0000286
30 open mouth 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0000194
31 aganglionic megacolon 58 31 very rare (1%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0002251
32 fine hair 58 31 frequent (33%) Frequent (79-30%) HP:0002213
33 hypospadias 58 31 very rare (1%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0000047
34 short philtrum 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000322
35 telecanthus 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000506
36 pointed chin 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%),Frequent (79-30%) HP:0000307
37 convex nasal ridge 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000444
38 tapered finger 58 31 frequent (33%) Frequent (79-30%) HP:0001182
39 aplasia/hypoplasia of the corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0007370
40 broad-based gait 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002136
41 depressed nasal tip 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000437
42 hypoplasia of the corpus callosum 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002079
43 posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0000358
44 broad columella 58 31 frequent (33%) Frequent (79-30%) HP:0010761
45 postnatal microcephaly 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0005484
46 focal-onset seizure 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0007359
47 poor fine motor coordination 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0007010
48 urinary incontinence 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000020
49 infantile muscular hypotonia 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0008947
50 broad eyebrow 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0011229

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
seizures
hypoplasia of the corpus callosum
hypotonia
delayed motor development
agenesis of the corpus callosum
more
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

Head And Neck Head:
microcephaly
pointed chin

Genitourinary Internal Genitalia Male:
cryptorchidism

Genitourinary External Genitalia Male:
bifid scrotum
hypospadias

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

Head And Neck Eyes:
ptosis
cataract
hypertelorism
iris coloboma
chorioretinal coloboma
more
Head And Neck Teeth:
widely spaced teeth
delayed tooth eruption
malpositioned teeth

Chest External Features:
pectus carinatum
pectus excavatum

Growth Height:
short stature

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

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

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 (Updated 05-Mar-2021)

UMLS symptoms related to Mowat-Wilson Syndrome:


seizures, constipation, vomiting
Sources

Drugs & Therapeutics for Mowat-Wilson Syndrome

About this section

Drugs for Mowat-Wilson Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
2
tannic acid Approved 1401-55-4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Connecting Seniors to Care Recruiting NCT04581317
2 Strength on Wheels: A Meal Delivery and Exercise Intervention for Homebound Older Adults Recruiting NCT04087343

Search NIH Clinical Center for Mowat-Wilson Syndrome

Cochrane evidence based reviews: mowat-wilson syndrome

Sources

Genetic Tests for Mowat-Wilson Syndrome

About this section

Genetic tests related to Mowat-Wilson Syndrome:

# Genetic test Affiliating Genes
1 Mowat-Wilson Syndrome 29 ZEB2
Sources

Anatomical Context for Mowat-Wilson Syndrome

About this section

MalaCards organs/tissues related to Mowat-Wilson Syndrome:

40
Eye, Kidney, Cerebellum, Colon, Heart, Testis, Brain
Sources

Publications for Mowat-Wilson Syndrome

About this section

Articles related to Mowat-Wilson Syndrome:

(show top 50) (show all 183)
# Title Authors PMID Year
1
ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome. 25 6 61 57
23466526 2013
2
A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype. 57 25 6 61
16688751 2006
3
Atypical ZFHX1B mutation associated with a mild Mowat-Wilson syndrome phenotype. 61 6 57 25
16532472 2006
4
Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation. 6 57 25 61
16088920 2005
5
Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23. 25 57 6
9719364 1998
6
Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome. 61 6 57
12920073 2003
7
"Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene. 61 57 6
11891681 2002
8
Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients. 57 25 61
27831545 2017
9
Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype. 57 25 61
23322667 2013
10
The behavioral phenotype of Mowat-Wilson syndrome. 57 25 61
22246645 2012
11
Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature. 25 61 57
19215041 2009
12
Recurrence of Mowat-Wilson syndrome in siblings with a novel mutation in the ZEB2 gene. 61 57 25
19006215 2008
13
ZFHX1B mutations in patients with Mowat-Wilson syndrome. 61 25 57
17203459 2007
14
Clinical features and management issues in Mowat-Wilson syndrome. 25 57 61
17103451 2006
15
Clinical and mutational spectrum of Mowat-Wilson syndrome. 61 57 25
16053902 2005
16
Mowat-Wilson syndrome. 57 25 61
12746390 2003
17
Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures. 57 6
11595972 2001
18
Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features. 57 6
11592033 2001
19
Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease. 6 57
11448942 2001
20
Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease. 57 6
11279515 2001
21
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care. 61 25 20
29300384 2018
22
Late infantile Hirschsprung disease-mental retardation syndrome with a 3-bp deletion in ZFHX1B. 25 57
12451214 2002
23
Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome. 57 61
25899569 2015
24
Mowat-Wilson syndrome: an underdiagnosed syndrome? 57 61
18445050 2008
25
Atypical Mowat-Wilson patient confirms the importance of the novel association between ZFHX1B/SIP1 and NuRD corepressor complex. 61 6
18182442 2008
26
Pulmonary artery sling and congenital tracheal stenosis in another patient with Mowat-Wilson syndrome. 61 57
17567886 2007
27
Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus. 57 61
16443855 2006
28
Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1. 61 57
15121779 2004
29
Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity. 61 57
14757866 2004
30
Facial phenotype allows diagnosis of Mowat-Wilson syndrome in the absence of Hirschsprung disease. 57 61
14679597 2004
31
Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the gene ZFHX1B (SIP1): confirmation of the Mowat-Wilson syndrome. 61 57
12522797 2003
32
Mowat-Wilson Syndrome Presenting With Purpura Fulminans. 25 61
30573661 2019
33
Anesthesia in Mowat-Wilson syndrome: information on 11 Italian patients. 25 61
29721247 2018
34
Electrical status epilepticus during sleep in Mowat-Wilson syndrome. 25 61
28501473 2017
35
Co-occurrence of rhabdomyosarcoma and Mowat-Wilson syndrome: is there a connection? 61 25
28230647 2017
36
Incontinence and psychological symptoms in individuals with Mowat-Wilson Syndrome. 25 61
28094084 2017
37
Difficult airway in Mowat-Wilson syndrome. 25 61
27687363 2016
38
Anaesthetic management of Mowat-Wilson syndrome. 61 25
27141118 2016
39
Sleep disturbance in Mowat-Wilson syndrome. 25 61
26686679 2016
40
Psychopharmacological Management of Problem Behaviors in Mowat-Wilson Syndrome. 61 25
26402313 2015
41
Mowat-Wilson syndrome: deafness in the first Egyptian case who was conceived by intracytoplasmic sperm injection. 61 25
24282181 2014
42
CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases. 25 61
25123255 2014
43
Mowat-Wilson syndrome: the first report of an association with central nervous system tumors. 61 25
24092421 2013
44
A new finding in a patient with Mowat Wilson syndrome: peripupillary atrophy and gingival hypertrophy. 25 61
23610866 2013
45
Dlx1&2-dependent expression of Zfhx1b (Sip1, Zeb2) regulates the fate switch between cortical and striatal interneurons. 25 61
23312518 2013
46
Avoiding pitfalls in molecular genetic testing: case studies of high-resolution array comparative genomic hybridization testing in the definitive diagnosis of Mowat-Wilson syndrome. 61 25
21497296 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. 61 25
21336163 2011
48
Supernumerary intestinal muscle coat in a patient with Hirschsprung disease/Mowat-Wilson syndrome. 25 61
20158378 2010
49
Genetic interaction between Sox10 and Zfhx1b during enteric nervous system development. 61 25
20206619 2010
50
Mowat-Wilson syndrome with associated dysphagia. 61 25
20101699 2010
Sources

Variations for Mowat-Wilson Syndrome

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ClinVar genetic disease variations for Mowat-Wilson Syndrome:

6 (show top 50) (show all 369)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ZEB2 NM_014795.4(ZEB2):c.3073del (p.Arg1025fs) Deletion Pathogenic 181762 rs730881217 2:145147590-145147590 2:144390023-144390023
2 ZEB2 NM_014795.4(ZEB2):c.3499del (p.Ser1167fs) Deletion Pathogenic 181763 rs730881218 2:145147164-145147164 2:144389597-144389597
3 ZEB2 NM_014795.4(ZEB2):c.1257del (p.Gly421fs) Deletion Pathogenic 189263 rs786204801 2:145157497-145157497 2:144399930-144399930
4 ZEB2 NM_014795.4(ZEB2):c.20_21insT (p.Asp8fs) Insertion Pathogenic 189264 rs786204802 2:145274897-145274898 2:144517330-144517331
5 ZEB2 NM_014795.4(ZEB2):c.1944del (p.Ile649fs) Deletion Pathogenic 189265 rs786204803 2:145156810-145156810 2:144399243-144399243
6 ZEB2 NM_014795.4(ZEB2):c.2685_2686CA[3] (p.Ala897fs) Microsatellite Pathogenic 189266 rs786204804 2:145156065-145156066 2:144398498-144398499
7 ZEB2 NM_014795.4(ZEB2):c.1172_1182delinsTGACTTAAAATTAATG (p.Lys391_Pro394delinsMetThrTer) Indel Pathogenic 189267 rs786204805 2:145157572-145157582 2:144400005-144400015
8 ZEB2 NM_014795.3(ZEB2):c.404-?_(*5076_?)del Deletion Pathogenic 189268
9 ZEB2 NM_014795.4(ZEB2):c.660C>G (p.Tyr220Ter) SNV Pathogenic 189269 rs111724246 2:145161630-145161630 2:144404063-144404063
10 ZEB2 NM_014795.3(ZEB2):c.(?_-522)_(*5076_?)del Deletion Pathogenic 189270
11 ZEB2 NM_014795.4(ZEB2):c.1541_1542insA (p.Val515fs) Insertion Pathogenic 189271 rs1553961695 2:145157212-145157213 2:144399645-144399646
12 ZEB2 NM_014795.4(ZEB2):c.703del (p.Glu235fs) Deletion Pathogenic 189272 rs786204806 2:145161587-145161587 2:144404020-144404020
13 ZEB2 NM_014795.4(ZEB2):c.1277T>G (p.Leu426Ter) SNV Pathogenic 189273 rs786204807 2:145157477-145157477 2:144399910-144399910
14 ZEB2 NM_014795.4(ZEB2):c.1749C>A (p.Cys583Ter) SNV Pathogenic 189274 rs786204808 2:145157005-145157005 2:144399438-144399438
15 ZEB2 NM_014795.4(ZEB2):c.1754del (p.Phe585fs) Deletion Pathogenic 189275 rs786204809 2:145157000-145157000 2:144399433-144399433
16 ZEB2 NM_014795.4(ZEB2):c.2179_2180del (p.Leu727fs) Deletion Pathogenic 189276 rs786204810 2:145156574-145156575 2:144399007-144399008
17 ZEB2 NM_014795.4(ZEB2):c.1884del (p.Phe628fs) Deletion Pathogenic 189277 rs786204811 2:145156870-145156870 2:144399303-144399303
18 ZEB2 NM_014795.4(ZEB2):c.227_233del (p.Gln76fs) Deletion Pathogenic 189278 rs786204812 2:145187434-145187440 2:144429867-144429873
19 ZEB2 NM_014795.4(ZEB2):c.73+1del Deletion Pathogenic 189279 rs786204813 2:145274844-145274844 2:144517277-144517277
20 ZEB2 NM_014795.4(ZEB2):c.1416_1420del (p.Arg473fs) Deletion Pathogenic 189280 rs786204814 2:145157334-145157338 2:144399767-144399771
21 ZEB2 NM_014795.4(ZEB2):c.1027C>T (p.Arg343Ter) SNV Pathogenic 189281 rs786204815 2:145157727-145157727 2:144400160-144400160
22 ZEB2 NM_014795.4(ZEB2):c.3391_3400del (p.Pro1131fs) Deletion Pathogenic 189282 rs786204816 2:145147263-145147272 2:144389696-144389705
23 ZEB2 NM_014795.4(ZEB2):c.460del (p.Glu154fs) Deletion Pathogenic 189283 rs786204817 2:145162535-145162535 2:144404968-144404968
24 ZEB2 NM_014795.3(ZEB2):c.3068-?_(*5076_?)del Deletion Pathogenic 189284
25 ZEB2 NM_014795.4(ZEB2):c.1966_1967del (p.Met656fs) Deletion Pathogenic 189285 rs786204818 2:145156787-145156788 2:144399220-144399221
26 ZEB2 NM_014795.4(ZEB2):c.1687del (p.Leu562_Ile563insTer) Deletion Pathogenic 189286 rs786204819 2:145157067-145157067 2:144399500-144399500
27 ZEB2 NM_014795.4(ZEB2):c.1653del (p.Ser552fs) Deletion Pathogenic 189287 rs786204820 2:145157101-145157101 2:144399534-144399534
28 ZEB2 NM_014795.4(ZEB2):c.2177_2180del (p.Ser726fs) Deletion Pathogenic 189288 rs786204821 2:145156574-145156577 2:144399007-144399010
29 ZEB2 NM_014795.4(ZEB2):c.2404_2407del (p.Thr802fs) Deletion Pathogenic 212634 rs797046119 2:145156347-145156350 2:144398780-144398783
30 ZEB2 NM_014795.4(ZEB2):c.2061del (p.Phe687fs) Deletion Pathogenic 212633 rs797046118 2:145156693-145156693 2:144399126-144399126
31 ZEB2 NM_014795.4(ZEB2):c.674C>A (p.Ser225Ter) SNV Pathogenic 212637 rs797046122 2:145161616-145161616 2:144404049-144404049
32 ZEB2 NM_014795.4(ZEB2):c.2894T>A (p.Leu965Ter) SNV Pathogenic 212635 rs797046120 2:145154152-145154152 2:144396585-144396585
33 ZEB2 NM_014795.4(ZEB2):c.3137C>A (p.Ser1046Ter) SNV Pathogenic 212636 rs797046121 2:145147526-145147526 2:144389959-144389959
34 ZEB2 NM_014795.4(ZEB2):c.1106T>A (p.Leu369Ter) SNV Pathogenic 212632 rs797046117 2:145157648-145157648 2:144400081-144400081
35 ZEB2 NM_014795.4(ZEB2):c.1645A>T (p.Arg549Ter) SNV Pathogenic 4754 rs137852980 2:145157109-145157109 2:144399542-144399542
36 ZEB2 NM_014795.4(ZEB2):c.1173_1176del (p.Thr392fs) Deletion Pathogenic 4756 rs587776603 2:145157578-145157581 2:144400011-144400014
37 ZEB2 NM_014795.4(ZEB2):c.1426dup (p.Met476fs) Duplication Pathogenic 4757 rs587776604 2:145157327-145157328 2:144399760-144399761
38 ZEB2 NM_014795.4(ZEB2):c.760_761dup (p.Gln255fs) Duplication Pathogenic 4758 rs587776605 2:145161528-145161529 2:144403961-144403962
39 ZEB2 NM_014795.4(ZEB2):c.2453dup (p.Leu818fs) Duplication Pathogenic 4759 rs587776606 2:145156300-145156301 2:144398733-144398734
40 ZEB2 NM_014795.4(ZEB2):c.1892del (p.Asn631fs) Deletion Pathogenic 4760 rs587776607 2:145156862-145156862 2:144399295-144399295
41 LOC111721705 NM_014795.4(ZEB2):c.553_554insTG (p.Arg185fs) Insertion Pathogenic 4761 rs587776608 2:145162441-145162442 2:144404874-144404875
42 ZEB2 NM_014795.4(ZEB2):c.2555C>G (p.Ser852Ter) SNV Pathogenic 4762 rs137852982 2:145156199-145156199 2:144398632-144398632
43 ZEB2 NM_014795.4(ZEB2):c.3566_3567dup (p.Met1190fs) Duplication Pathogenic 4763 rs587776609 2:145147095-145147096 2:144389528-144389529
44 LOC112806051 NC_000002.12:g.(144114719_144303837)_(144566562_144681958)del Deletion Pathogenic 4765 2:144114719-144681958
45 ZEB2 NM_014795.4(ZEB2):c.1862del (p.Val621fs) Deletion Pathogenic 4766 rs587776611 2:145156892-145156892 2:144399325-144399325
46 ZEB2 NM_014795.4(ZEB2):c.-69-1G>A SNV Pathogenic 4767 rs587776612 2:145274987-145274987 2:144517420-144517420
47 ZEB2 NM_014795.4(ZEB2):c.3356A>G (p.Gln1119Arg) SNV Pathogenic 4768 rs137852983 2:145147307-145147307 2:144389740-144389740
48 ZEB2 NM_014795.4(ZEB2):c.3211T>C (p.Ser1071Pro) SNV Pathogenic 56826 rs397515448 2:145147452-145147452 2:144389885-144389885
49 ZEB2 NM_014795.4(ZEB2):c.3134A>G (p.His1045Arg) SNV Pathogenic 56827 rs397515449 2:145147529-145147529 2:144389962-144389962
50 ZEB2 NM_014795.4(ZEB2):c.3359_3364delinsTAATG (p.Gly1120fs) Indel Pathogenic 95635 rs398124280 2:145147299-145147304 2:144389732-144389737

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

73
# Symbol AA change Variation ID SNP ID
1 ZEB2 p.Arg953Gly VAR_027017
2 ZEB2 p.Gln1119Arg VAR_027018 rs137852983

Copy number variations for Mowat-Wilson Syndrome from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 149721 2 91200000 148400000 Copy number ZEB2 Mowat-Wilson syndrome
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Expression for Mowat-Wilson Syndrome

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

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GO Terms for Mowat-Wilson Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 regulation of intracellular pH GO:0051453 9.32 SLC9A7 SLC9A6
2 positive regulation of neuroblast proliferation GO:0002052 9.26 SOX10 FOXG1
3 sodium ion import across plasma membrane GO:0098719 9.16 SLC9A7 SLC9A6
4 regulation of pH GO:0006885 8.96 SLC9A7 SLC9A6
5 enteric nervous system development GO:0048484 8.62 TLX2 SOX10

Molecular functions related to Mowat-Wilson Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.73 ZEB2 ZEB1 ZBTB11 TLX2 SOX10 FOXG1
2 solute:proton antiporter activity GO:0015299 9.16 SLC9A7 SLC9A6
3 sodium:proton antiporter activity GO:0015385 8.96 SLC9A7 SLC9A6
4 potassium:proton antiporter activity GO:0015386 8.62 SLC9A7 SLC9A6
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Sources for Mowat-Wilson Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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