MOWS
MCID: MWT001
MIFTS: 61

Mowat-Wilson Syndrome (MOWS)

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Mowat-Wilson Syndrome

MalaCards integrated aliases for Mowat-Wilson Syndrome:

Name: Mowat-Wilson Syndrome 57 11 24 19 42 58 75 73 28 12 5 43 14 38 71
Microcephaly, Mental Retardation, and Distinct Facial Features, with or Without Hirschsprung Disease 57 42
Hirschsprung Disease-Mental Retardation Syndrome 57 42
Mowat-Wilson Syndrome Due to Monosomy 2q22 58 28
Mows 57 73
Intellectual Disability, Microcephaly, and Distinct Facial Features with or Without Hirschsprung Disease 19
Microcephaly, Mental Retardation, and Distinct Facial Featrues, with or Without Hirschprung Disease 11
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 24
Hirschsprung Disease Intellectual Disability Syndrome 19
Hirschsprung Disease-Intellectual Disability Syndrome 58
Mowat-Wilson Syndrome Due to a Zeb2 Point Mutation 58
Hirschsprung Disease Mental Retardation Syndrome 11
Mowat-Wilson Syndrome Due to 2q22 Microdeletion 58
Mowat-Wilson Syndrome Due to Del(2)q(22) 58
Mws 42

Characteristics:


Inheritance:

Autosomal dominant 58 57

Prevelance:

1-9/100000 (Europe) 58

Age Of Onset:

Antenatal,Neonatal 58

OMIM®:

57 (Updated 24-Oct-2022)
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


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0060485
OMIM® 57 235730
NCIt 49 C74999
SNOMED-CT 68 703535000
MESH via Orphanet 44 C536990
ICD10 via Orphanet 32 Q43.1
UMLS via Orphanet 72 C1856113
MedGen 40 C1856113
SNOMED-CT via HPO 69 109504005 111266001 11296007 more
UMLS 71 C1856113

Summaries for Mowat-Wilson Syndrome

MedlinePlus Genetics: 42 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 microcephaly, mental retardation, and distinct facial features, with or without hirschsprung disease, is related to goldberg-shprintzen syndrome and hirschsprung disease 1, and has symptoms including constipation, seizures and vomiting. An important gene associated with Mowat-Wilson Syndrome is ZEB2 (Zinc Finger E-Box Binding Homeobox 2), and among its related pathways/superpathways are Neural crest differentiation and MECP2 and associated Rett syndrome. Affiliated tissues include heart, colon and brain, and related phenotypes are intellectual disability and abnormal facial shape

OMIM®: 57 Mowat-Wilson syndrome (MOWS) 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 KIFBP gene (609367) on chromosome 10q. (235730) (Updated 24-Oct-2022)

GARD: 19 Mowat-Wilson syndrome (MWS) is a rare genetic disorder that affects many systems of the body. Symptoms may include intellectual disability, distinctive facial features, delayed development, and Hirschsprung disease. Other symptoms may include microcephaly, structural brain abnormalities, epilepsy, short stature, and defects of the heart, urinary tract, or genitalia. MWS is caused by a genetic change 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.

UniProtKB/Swiss-Prot: 73 A complex developmental disorder characterized by intellectual disability, 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.

Disease Ontology: 11 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.

Orphanet: 58 A rare multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR) and variable congenital malformations.

Wikipedia: 75 Mowat-Wilson syndrome is a rare genetic disorder that was clinically delineated by David 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 154)
# Related Disease Score Top Affiliating Genes
1 goldberg-shprintzen syndrome 32.3 KIFBP EDNRB EDN3
2 hirschsprung disease 1 32.0 ZEB2 TLX2 SOX10 PHOX2B MECP2 KIFBP
3 hypotonia 30.9 UBE3A MEF2C MECP2 FOXG1
4 microcephaly 30.8 ZEB2 UBE3A SLC9A7 SLC9A6 MECP2 MBD5
5 epilepsy 30.6 ZEB2 UBE3A SLC9A6 MEF2C MECP2 KANSL1
6 angelman syndrome 30.4 UBE3A SLC9A6 MECP2 CDKL5
7 intestinal pseudo-obstruction 30.4 TLX2 SOX10 EDNRB EDN3
8 childhood absence epilepsy 30.2 UBE3A MECP2 CDKL5
9 megacolon 30.1 ZEB2 TLX2 SOX10 PHOX2B KIFBP EDNRB
10 muckle-wells syndrome 11.6
11 marden-walker syndrome 11.5
12 cryopyrin-associated periodic syndrome 11.4
13 alacrima, achalasia, and mental retardation syndrome 10.9
14 corpus callosum, agenesis of 10.8
15 hypospadias 10.6
16 constipation 10.6
17 microphthalmia 10.4
18 meier-gorlin syndrome 2 10.4 ZEB2 GTDC1 ARHGAP15
19 epilepsy, idiopathic generalized 9 10.4 ZEB2 GTDC1 ARHGAP15
20 hypertelorism 10.4
21 status epilepticus 10.4
22 craniosynostosis 10.4
23 deafness, dystonia, and cerebral hypomyelination 10.4 SLC9A7 SLC9A6
24 complex partial epilepsy 10.4 SLC9A6 MBD5
25 developmental and epileptic encephalopathy 21 10.3 ZEB2 CDKL5
26 x-linked intellectual disability-psychosis-macroorchidism syndrome 10.3 MECP2 GTDC1
27 epilepsy, familial temporal lobe, 6 10.3 EDNRB EDN3
28 neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language 10.3 MEF2C CDKL5
29 cochlear disease 10.3 EDNRB EDN3
30 gait apraxia 10.3 MECP2 FOXG1 CDKL5
31 motor stereotypies 10.3 MECP2 FOXG1 CDKL5
32 intellectual developmental disorder, x-linked, syndromic, billuart type 10.3 SLC9A7 SLC9A6
33 nescav syndrome 10.3 MECP2 FOXG1 CDKL5
34 kleefstra syndrome 10.3 UBE3A MECP2 MBD5
35 coloboma of macula 10.3
36 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.3
37 patent ductus arteriosus 1 10.3
38 waardenburg syndrome, type 2c 10.3 SOX10 EDNRB EDN3
39 waardenburg syndrome, type 2b 10.3 SOX10 EDNRB EDN3
40 waardenburg syndrome, type 2d 10.3 SOX10 EDNRB EDN3
41 waardenburg syndrome, type 4c 10.3 SOX10 EDNRB EDN3
42 peho syndrome 10.3 MECP2 FOXG1 CDKL5
43 childhood disintegrative disease 10.3 UBE3A MECP2
44 waardenburg syndrome, type 3 10.3 SOX10 EDNRB EDN3
45 alcohol-related neurodevelopmental disorder 10.3 MECP2 CDKL5
46 waardenburg syndrome, type 2a 10.3 SOX10 EDNRB EDN3
47 waardenburg syndrome, type 2e 10.3 SOX10 EDNRB EDN3
48 stereotypic movement disorder 10.3 MECP2 FOXG1 CDKL5
49 tietz albinism-deafness syndrome 10.3 SOX10 EDNRB EDN3
50 central hypoventilation syndrome, congenital, 1 10.3 PHOX2B EDNRB EDN3

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:

58 30 (show top 50) (show all 215)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0001249
2 abnormal facial shape 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0001999
3 absent speech 58 30 Very rare (1%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0001344
4 expressive language delay 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0002474
5 happy demeanor 58 30 Frequent (33%) Frequent (79-30%)
Very frequent (99-80%)
Very frequent (99-80%)
HP:0040082
6 spasticity 58 30 Occasional (7.5%) Occasional (29-5%)
Frequent (79-30%)
Frequent (79-30%)
HP:0001257
7 agenesis of corpus callosum 58 30 Very rare (1%) Frequent (79-30%)
Frequent (79-30%)
Frequent (79-30%)
HP:0001274
8 failure to thrive 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0001508
9 eeg abnormality 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0002353
10 sleep disturbance 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
Frequent (79-30%)
HP:0002360
11 scoliosis 58 30 Frequent (33%) Frequent (79-30%)
Occasional (29-5%)
Occasional (29-5%)
HP:0002650
12 bowel incontinence 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
Frequent (79-30%)
HP:0002607
13 delayed skeletal maturation 58 30 Frequent (33%) Frequent (79-30%)
Occasional (29-5%)
Occasional (29-5%)
HP:0002750
14 hypertelorism 58 30 Frequent (33%) Frequent (79-30%)
Occasional (29-5%)
Occasional (29-5%)
HP:0000316
15 mandibular prognathia 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
Frequent (79-30%)
HP:0000303
16 wide nasal bridge 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
Frequent (79-30%)
HP:0000431
17 pectus carinatum 58 30 Frequent (33%) Frequent (79-30%)
Occasional (29-5%)
Occasional (29-5%)
HP:0000768
18 pes planus 58 30 Frequent (33%) Frequent (79-30%)
Occasional (29-5%)
Occasional (29-5%)
HP:0001763
19 microcephaly 58 30 Very rare (1%) Frequent (79-30%)
HP:0000252
20 short stature 58 30 Very rare (1%) Frequent (79-30%)
Frequent (79-30%)
Frequent (79-30%)
HP:0004322
21 intellectual disability, severe 58 30 Very rare (1%) Frequent (79-30%)
HP:0010864
22 thick lower lip vermilion 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
Frequent (79-30%)
HP:0000179
23 genu valgum 58 30 Frequent (33%) Frequent (79-30%)
Occasional (29-5%)
Occasional (29-5%)
HP:0002857
24 everted lower lip vermilion 58 30 Frequent (33%) Frequent (79-30%)
HP:0000232
25 strabismus 58 30 Very rare (1%) Frequent (79-30%)
Occasional (29-5%)
Occasional (29-5%)
HP:0000486
26 cryptorchidism 58 30 Very rare (1%) Frequent (79-30%)
Frequent (79-30%)
Frequent (79-30%)
HP:0000028
27 recurrent otitis media 58 30 Very rare (1%) Frequent (79-30%)
Frequent (79-30%)
Frequent (79-30%)
HP:0000403
28 pectus excavatum 58 30 Frequent (33%) Frequent (79-30%)
Occasional (29-5%)
Occasional (29-5%)
HP:0000767
29 open mouth 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
Frequent (79-30%)
HP:0000194
30 aganglionic megacolon 58 30 Very rare (1%) Frequent (79-30%)
Frequent (79-30%)
Frequent (79-30%)
HP:0002251
31 impaired pain sensation 58 30 Frequent (33%) Frequent (79-30%)
Occasional (29-5%)
Occasional (29-5%)
HP:0007328
32 patent ductus arteriosus 58 30 Frequent (33%) Frequent (79-30%)
Very rare (<4-1%)
HP:0001643
33 abnormal cardiac septum morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0001671
34 long face 58 30 Frequent (33%) Frequent (79-30%)
HP:0000276
35 deeply set eye 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
Frequent (79-30%)
HP:0000490
36 intellectual disability, moderate 58 30 Frequent (33%) Frequent (79-30%)
HP:0002342
37 hypospadias 58 30 Very rare (1%) Frequent (79-30%)
Frequent (79-30%)
Frequent (79-30%)
HP:0000047
38 short philtrum 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0000322
39 telecanthus 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
Frequent (79-30%)
HP:0000506
40 pointed chin 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
Frequent (79-30%)
HP:0000307
41 hallux valgus 58 30 Frequent (33%) Frequent (79-30%)
Occasional (29-5%)
Occasional (29-5%)
HP:0001822
42 convex nasal ridge 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0000444
43 decreased body weight 58 30 Frequent (33%) Frequent (79-30%)
HP:0004325
44 broad-based gait 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
Frequent (79-30%)
HP:0002136
45 depressed nasal tip 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
Frequent (79-30%)
HP:0000437
46 posteriorly rotated ears 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
Frequent (79-30%)
HP:0000358
47 broad columella 58 30 Frequent (33%) Frequent (79-30%)
HP:0010761
48 focal-onset seizure 58 30 Occasional (7.5%) Occasional (29-5%)
Frequent (79-30%)
Frequent (79-30%)
HP:0007359
49 hypoplasia of the corpus callosum 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
Frequent (79-30%)
HP:0002079
50 camptodactyly 58 30 Frequent (33%) Frequent (79-30%)
Occasional (29-5%)
Occasional (29-5%)
HP:0012385

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
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 24-Oct-2022)

UMLS symptoms related to Mowat-Wilson Syndrome:


constipation; seizures; vomiting

MGI Mouse Phenotypes related to Mowat-Wilson Syndrome:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.38 CDKL5 EDN3 EDNRB FOXG1 KANSL1 KIFBP
2 growth/size/body region MP:0005378 10.27 EDNRB FOXG1 KANSL1 KIFBP MBD5 MECP2
3 embryo MP:0005380 10.17 EDN3 EDNRB FOXG1 KIFBP MECP2 MEF2C
4 behavior/neurological MP:0005386 10.13 CDKL5 EDN3 EDNRB FOXG1 KANSL1 MBD5
5 pigmentation MP:0001186 10.1 EDN3 EDNRB FOXG1 KANSL1 MEF2C SOX10
6 craniofacial MP:0005382 10.02 EDNRB FOXG1 KIFBP MBD5 MECP2 MEF2C
7 digestive/alimentary MP:0005381 10.01 EDN3 EDNRB FOXG1 KIFBP MEF2C SOX10
8 respiratory system MP:0005388 9.86 EDNRB FOXG1 KIFBP MECP2 MEF2C PHOX2B
9 vision/eye MP:0005391 9.85 CDKL5 EDNRB FOXG1 KANSL1 KIFBP MBD5
10 mortality/aging MP:0010768 9.83 EDN3 EDNRB FOXG1 KANSL1 KIFBP MBD5
11 integument MP:0010771 9.4 EDN3 EDNRB FOXG1 KANSL1 KIFBP MBD5

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
2 Mowat-Wilson Syndrome Due to Monosomy 2q22 28

Anatomical Context for Mowat-Wilson Syndrome

Organs/tissues related to Mowat-Wilson Syndrome:

MalaCards : Heart, Colon, Brain, Kidney, Skin, Testis, Cerebellum
ODiseA: Respiratory System-Lung, Respiratory System, Kidney

Publications for Mowat-Wilson Syndrome

Articles related to Mowat-Wilson Syndrome:

(show top 50) (show all 214)
# Title Authors PMID Year
1
Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients. 62 24 57 5
27831545 2017
2
ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome. 62 24 57 5
23466526 2013
3
Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature. 62 24 57 5
19215041 2009
4
Recurrence of Mowat-Wilson syndrome in siblings with a novel mutation in the ZEB2 gene. 62 24 57 5
19006215 2008
5
ZFHX1B mutations in patients with Mowat-Wilson syndrome. 62 24 57 5
17203459 2007
6
A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype. 62 24 57 5
16688751 2006
7
Atypical ZFHX1B mutation associated with a mild Mowat-Wilson syndrome phenotype. 62 24 57 5
16532472 2006
8
Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation. 62 24 57 5
16088920 2005
9
Clinical and mutational spectrum of Mowat-Wilson syndrome. 62 24 57 5
16053902 2005
10
Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23. 24 57 5
9719364 1998
11
Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome. 62 57 5
25899569 2015
12
Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1. 62 57 5
15121779 2004
13
Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome. 62 57 5
12920073 2003
14
"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. 62 57 5
11891681 2002
15
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care. 62 24 5
29300384 2018
16
Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype. 62 24 57
23322667 2013
17
The behavioral phenotype of Mowat-Wilson syndrome. 62 24 57
22246645 2012
18
Comprehensive ZEB2 gene analysis for Mowat-Wilson syndrome in a North American cohort: a suggested approach to molecular diagnostics. 62 24 5
19842203 2009
19
Clinical features and management issues in Mowat-Wilson syndrome. 62 24 57
17103451 2006
20
Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B. 57 5
12784289 2003
21
Mowat-Wilson syndrome. 62 24 57
12746390 2003
22
Late infantile Hirschsprung disease-mental retardation syndrome with a 3-bp deletion in ZFHX1B. 62 24 57
12451214 2002
23
Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures. 57 5
11595972 2001
24
Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features. 57 5
11592033 2001
25
Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease. 57 5
11448942 2001
26
Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease. 57 5
11279515 2001
27
Mowat-Wilson syndrome: Generation of two human iPS cell lines (UUIGPi004A and UUIGPi005A) from siblings with a truncating ZEB2 gene variant. 62 5
31376723 2019
28
A Diagnosis to Consider in Intellectual Disability: Mowat-Wilson Syndrome. 62 5
26809768 2016
29
Mowat-Wilson syndrome: neurological and molecular study in seven patients. 62 5
25608121 2015
30
The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations. 62 5
24715670 2014
31
Mowat-Wilson syndrome: an underdiagnosed syndrome? 62 57
18445050 2008
32
Atypical Mowat-Wilson patient confirms the importance of the novel association between ZFHX1B/SIP1 and NuRD corepressor complex. 62 5
18182442 2008
33
Mowat-Wilson syndrome. 62 5
17958891 2007
34
Pulmonary artery sling and congenital tracheal stenosis in another patient with Mowat-Wilson syndrome. 62 57
17567886 2007
35
Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus. 62 57
16443855 2006
36
Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity. 62 57
14757866 2004
37
Facial phenotype allows diagnosis of Mowat-Wilson syndrome in the absence of Hirschsprung disease. 62 57
14679597 2004
38
Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the gene ZFHX1B (SIP1): confirmation of the Mowat-Wilson syndrome. 62 57
12522797 2003
39
Expanding the genotypes and phenotypes for 19 rare diseases by exome sequencing performed in pediatric intensive care unit. 5
34298581 2021
40
Mowat-Wilson Syndrome Presenting With Purpura Fulminans. 62 24
30573661 2019
41
Anesthesia in Mowat-Wilson syndrome: information on 11 Italian patients. 62 24
29721247 2018
42
Marked yield of re-evaluating phenotype and exome/target sequencing data in 33 individuals with intellectual disabilities. 5
29159939 2018
43
Electrical status epilepticus during sleep in Mowat-Wilson syndrome. 62 24
28501473 2017
44
Co-occurrence of rhabdomyosarcoma and Mowat-Wilson syndrome: is there a connection? 62 24
28230647 2017
45
Incontinence and psychological symptoms in individuals with Mowat-Wilson Syndrome. 62 24
28094084 2017
46
Difficult airway in Mowat-Wilson syndrome. 62 24
27687363 2016
47
Anaesthetic management of Mowat-Wilson syndrome. 62 24
27141118 2016
48
Sleep disturbance in Mowat-Wilson syndrome. 62 24
26686679 2016
49
Psychopharmacological Management of Problem Behaviors in Mowat-Wilson Syndrome. 62 24
26402313 2015
50
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 5
25741868 2015

Variations for Mowat-Wilson Syndrome

ClinVar genetic disease variations for Mowat-Wilson Syndrome:

5 (show top 50) (show all 694)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ZEB2 NM_014795.4(ZEB2):c.1645A>T (p.Arg549Ter) SNV Pathogenic
4754 rs137852980 GRCh37: 2:145157109-145157109
GRCh38: 2:144399542-144399542
2 ZEB2 NM_014795.4(ZEB2):c.1173_1176del (p.Thr392fs) DEL Pathogenic
4756 rs587776603 GRCh37: 2:145157578-145157581
GRCh38: 2:144400011-144400014
3 ZEB2 NM_014795.4(ZEB2):c.760_761dup (p.Gln255fs) DUP Pathogenic
4758 rs587776605 GRCh37: 2:145161528-145161529
GRCh38: 2:144403961-144403962
4 ZEB2 NM_014795.4(ZEB2):c.2453dup (p.Leu818fs) DUP Pathogenic
4759 rs587776606 GRCh37: 2:145156300-145156301
GRCh38: 2:144398733-144398734
5 ZEB2 NM_014795.4(ZEB2):c.1892del (p.Asn631fs) DEL Pathogenic
4760 rs587776607 GRCh37: 2:145156862-145156862
GRCh38: 2:144399295-144399295
6 LOC111721705, ZEB2 NM_014795.4(ZEB2):c.553_554insTG (p.Arg185fs) INSERT Pathogenic
4761 rs587776608 GRCh37: 2:145162441-145162442
GRCh38: 2:144404874-144404875
7 ZEB2 NM_014795.4(ZEB2):c.2555C>G (p.Ser852Ter) SNV Pathogenic
4762 rs137852982 GRCh37: 2:145156199-145156199
GRCh38: 2:144398632-144398632
8 ZEB2 NM_014795.4(ZEB2):c.3566_3567dup (p.Met1190fs) DUP Pathogenic
4763 rs587776609 GRCh37: 2:145147095-145147096
GRCh38: 2:144389528-144389529
9 overlap with 11 genes NC_000002.12:g.(144114719_144303837)_(144566562_144681958)del DEL Pathogenic
4765 GRCh37:
GRCh38: 2:144114719-144681958
10 ZEB2 NM_014795.4(ZEB2):c.1862del (p.Val621fs) DEL Pathogenic
4766 rs587776611 GRCh37: 2:145156892-145156892
GRCh38: 2:144399325-144399325
11 ZEB2 NM_014795.4(ZEB2):c.-69-1G>A SNV Pathogenic
4767 rs587776612 GRCh37: 2:145274987-145274987
GRCh38: 2:144517420-144517420
12 ZEB2 NM_014795.4(ZEB2):c.3356A>G (p.Gln1119Arg) SNV Pathogenic
4768 rs137852983 GRCh37: 2:145147307-145147307
GRCh38: 2:144389740-144389740
13 ZEB2 NM_014795.4(ZEB2):c.3211T>C (p.Ser1071Pro) SNV Pathogenic
56826 rs397515448 GRCh37: 2:145147452-145147452
GRCh38: 2:144389885-144389885
14 ZEB2 NM_014795.4(ZEB2):c.3134A>G (p.His1045Arg) SNV Pathogenic
56827 rs397515449 GRCh37: 2:145147529-145147529
GRCh38: 2:144389962-144389962
15 ZEB2 NM_014795.4(ZEB2):c.3359_3364delinsTAATG (p.Gly1120fs) INDEL Pathogenic
95635 rs398124280 GRCh37: 2:145147299-145147304
GRCh38: 2:144389732-144389737
16 ZEB2 NM_014795.4(ZEB2):c.1876G>T (p.Gly626Ter) SNV Pathogenic
Conflicting Interpretations Of Pathogenicity
167854 rs727504224 GRCh37: 2:145156878-145156878
GRCh38: 2:144399311-144399311
17 ZEB2 NM_014795.4(ZEB2):c.1218del (p.His407fs) DEL Pathogenic
167856 rs727504226 GRCh37: 2:145157536-145157536
GRCh38: 2:144399969-144399969
18 ZEB2 NM_014795.4(ZEB2):c.999del (p.Lys333fs) DEL Pathogenic
181751 rs730881208 GRCh37: 2:145157755-145157755
GRCh38: 2:144400188-144400188
19 ZEB2 NM_014795.4(ZEB2):c.2228_2229del (p.Ser743fs) DEL Pathogenic
181754 rs730881211 GRCh37: 2:145156525-145156526
GRCh38: 2:144398958-144398959
20 ZEB2 NM_014795.4(ZEB2):c.3002del (p.Cys1001fs) DEL Pathogenic
181755 rs730881212 GRCh37: 2:145154044-145154044
GRCh38: 2:144396477-144396477
21 ZEB2 NM_014795.4(ZEB2):c.3195dup (p.His1066fs) DUP Pathogenic
181756 rs730881213 GRCh37: 2:145147467-145147468
GRCh38: 2:144389900-144389901
22 ZEB2 NM_014795.4(ZEB2):c.178_190delinsGTT (p.Thr60fs) INDEL Pathogenic
181758 rs730881215 GRCh37: 2:145187477-145187489
GRCh38: 2:144429910-144429922
23 ZEB2 NM_014795.4(ZEB2):c.3073del (p.Arg1025fs) DEL Pathogenic
181762 rs730881217 GRCh37: 2:145147590-145147590
GRCh38: 2:144390023-144390023
24 ZEB2 NM_014795.4(ZEB2):c.3499del (p.Ser1167fs) DEL Pathogenic
181763 rs730881218 GRCh37: 2:145147164-145147164
GRCh38: 2:144389597-144389597
25 ZEB2 NM_014795.4(ZEB2):c.1257del (p.Gly421fs) DEL Pathogenic
189263 rs786204801 GRCh37: 2:145157497-145157497
GRCh38: 2:144399930-144399930
26 ZEB2 NM_014795.4(ZEB2):c.20_21insT (p.Asp8fs) INSERT Pathogenic
189264 rs786204802 GRCh37: 2:145274897-145274898
GRCh38: 2:144517330-144517331
27 ZEB2 NM_014795.4(ZEB2):c.1944del (p.Ile649fs) DEL Pathogenic
189265 rs786204803 GRCh37: 2:145156810-145156810
GRCh38: 2:144399243-144399243
28 ZEB2 NM_014795.4(ZEB2):c.2687_2688dup (p.Ala897fs) MICROSAT Pathogenic
189266 rs786204804 GRCh37: 2:145156065-145156066
GRCh38: 2:144398498-144398499
29 ZEB2 NM_014795.4(ZEB2):c.1172_1182delinsTGACTTAAAATTAATG (p.Lys391_Pro394delinsMetThrTer) INDEL Pathogenic
189267 rs786204805 GRCh37: 2:145157572-145157582
GRCh38: 2:144400005-144400015
30 ZEB2 NM_014795.4(ZEB2):c.660C>G (p.Tyr220Ter) SNV Pathogenic
189269 rs111724246 GRCh37: 2:145161630-145161630
GRCh38: 2:144404063-144404063
31 ZEB2 NM_014795.4(ZEB2):c.1541_1542insA (p.Val515fs) INSERT Pathogenic
189271 rs1553961695 GRCh37: 2:145157212-145157213
GRCh38: 2:144399645-144399646
32 ZEB2 NM_014795.4(ZEB2):c.703del (p.Glu235fs) DEL Pathogenic
189272 rs786204806 GRCh37: 2:145161587-145161587
GRCh38: 2:144404020-144404020
33 ZEB2 NM_014795.4(ZEB2):c.1277T>G (p.Leu426Ter) SNV Pathogenic
Pathogenic
189273 rs786204807 GRCh37: 2:145157477-145157477
GRCh38: 2:144399910-144399910
34 ZEB2 NM_014795.4(ZEB2):c.1749C>A (p.Cys583Ter) SNV Pathogenic
189274 rs786204808 GRCh37: 2:145157005-145157005
GRCh38: 2:144399438-144399438
35 ZEB2 NM_014795.4(ZEB2):c.1754del (p.Phe585fs) DEL Pathogenic
189275 rs786204809 GRCh37: 2:145157000-145157000
GRCh38: 2:144399433-144399433
36 ZEB2 NM_014795.4(ZEB2):c.2179_2180del (p.Leu727fs) DEL Pathogenic
Likely Pathogenic
189276 rs786204810 GRCh37: 2:145156574-145156575
GRCh38: 2:144399007-144399008
37 ZEB2 NM_014795.4(ZEB2):c.227_233del (p.Gln76fs) DEL Pathogenic
189278 rs786204812 GRCh37: 2:145187434-145187440
GRCh38: 2:144429867-144429873
38 ZEB2 NM_014795.4(ZEB2):c.73+1del DEL Pathogenic
189279 rs786204813 GRCh37: 2:145274844-145274844
GRCh38: 2:144517277-144517277
39 ZEB2 NM_014795.4(ZEB2):c.1416_1420del (p.Arg473fs) DEL Pathogenic
189280 rs786204814 GRCh37: 2:145157334-145157338
GRCh38: 2:144399767-144399771
40 ZEB2 NM_014795.4(ZEB2):c.3391_3400del (p.Pro1131fs) DEL Pathogenic
189282 rs786204816 GRCh37: 2:145147263-145147272
GRCh38: 2:144389696-144389705
41 ZEB2 NM_014795.4(ZEB2):c.460del (p.Glu154fs) DEL Pathogenic
189283 rs786204817 GRCh37: 2:145162535-145162535
GRCh38: 2:144404968-144404968
42 ZEB2 NM_014795.4(ZEB2):c.1966_1967del (p.Met656fs) DEL Pathogenic
189285 rs786204818 GRCh37: 2:145156787-145156788
GRCh38: 2:144399220-144399221
43 ZEB2 NM_014795.4(ZEB2):c.1687del (p.Leu562_Ile563insTer) DEL Pathogenic
189286 rs786204819 GRCh37: 2:145157067-145157067
GRCh38: 2:144399500-144399500
44 ZEB2 NM_014795.4(ZEB2):c.1653del (p.Ser552fs) DEL Pathogenic
189287 rs786204820 GRCh37: 2:145157101-145157101
GRCh38: 2:144399534-144399534
45 ZEB2 NM_014795.4(ZEB2):c.2177_2180del (p.Ser726fs) DEL Pathogenic
189288 rs786204821 GRCh37: 2:145156574-145156577
GRCh38: 2:144399007-144399010
46 ZEB2 NM_014795.4(ZEB2):c.2672_2678del (p.Ala891fs) DEL Pathogenic
242351 rs878855329 GRCh37: 2:145156076-145156082
GRCh38: 2:144398509-144398515
47 ZEB2 NC_000002.12:g.(?_144517278)_(144517419_?)del DEL Pathogenic
417344 GRCh37: 2:145274845-145274986
GRCh38: 2:144517278-144517419
48 ZEB2 NM_014795.4(ZEB2):c.3170G>A (p.Cys1057Tyr) SNV Pathogenic
431116 rs1135401790 GRCh37: 2:145147493-145147493
GRCh38: 2:144389926-144389926
49 ZEB2 NM_014795.4(ZEB2):c.2211_2214dup (p.Ile739fs) DUP Pathogenic
448970 rs1553961585 GRCh37: 2:145156539-145156540
GRCh38: 2:144398972-144398973
50 ZEB2 NC_000002.12:g.(?_144517258)_(144517420_?)del DEL Pathogenic
466272 GRCh37:
GRCh38: 2:144517258-144517420

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:

6
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 149721 2 91200000 148400000 Copy number ZEB2 Mowat-Wilson syndrome

Expression for Mowat-Wilson Syndrome

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

Pathways for Mowat-Wilson Syndrome

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

# Super pathways Score Top Affiliating Genes
1 11.34 TLX2 SOX10 PHOX2B
2 11.12 UBE3A MEF2C MECP2 FOXG1
3 10.61 MEF2C MECP2 FOXG1 CDKL5

GO Terms for Mowat-Wilson Syndrome

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.4 MECP2 MEF2C PHOX2B SOX10 TLX2 UBE3A
2 nervous system development GO:0007399 10.1 EDNRB KIFBP MBD5 MEF2C ZEB1 ZEB2
3 cell population proliferation GO:0008283 9.95 ZEB1 PHOX2B MECP2 EDN3
4 anatomical structure development GO:0048856 9.92 ZEB2 ZEB1 MEF2C
5 neural crest cell migration GO:0001755 9.91 SOX10 EDNRB EDN3
6 positive regulation of neuron differentiation GO:0045666 9.86 FOXG1 MEF2C PHOX2B ZEB1
7 regulation of respiratory gaseous exchange by nervous system process GO:0002087 9.84 PHOX2B MECP2
8 developmental pigmentation GO:0048066 9.81 ZEB2 EDNRB
9 neuron differentiation GO:0030182 9.8 PHOX2B MEF2C MECP2 FOXG1 EDN3
10 vein smooth muscle contraction GO:0014826 9.67 EDNRB EDN3
11 cell morphogenesis involved in neuron differentiation GO:0048667 9.63 MEF2C FOXG1
12 melanocyte differentiation GO:0030318 9.56 SOX10 MEF2C EDNRB EDN3
13 regulation of pH GO:0006885 9.55 SLC9A7 SLC9A6 EDNRB
14 regulation of biological quality GO:0065008 9.48 EDNRB EDN3
15 enteric nervous system development GO:0048484 9.23 TLX2 SOX10 PHOX2B EDNRB

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.77 ZEB2 ZEB1 TLX2 SOX10 PHOX2B MEF2C
2 DNA-binding transcription factor activity GO:0003700 9.32 ZEB1 TLX2 SOX10 MEF2C MECP2 FOXG1

Sources for Mowat-Wilson Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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