MOWS
MCID: MWT001
MIFTS: 54

Mowat-Wilson Syndrome (MOWS)

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

Aliases & Classifications for Mowat-Wilson Syndrome

MalaCards integrated aliases for Mowat-Wilson Syndrome:

Name: Mowat-Wilson Syndrome 56 12 74 24 52 25 58 73 36 29 13 6 43 15 39 71
Hirschsprung Disease-Mental Retardation Syndrome 56 25 73
Microcephaly, Mental Retardation, and Distinct Facial Features, with or Without Hirschsprung Disease 56 25
Mows 56 73
Intellectual Disability, Microcephaly, and Distinct Facial Features with or Without Hirschsprung Disease 52
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 24
Hirschsprung Disease Intellectual Disability Syndrome 52
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
Mws 25

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Mowat-Wilson Syndrome

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. 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 alacrima, achalasia, and mental retardation syndrome, and has symptoms including seizures, vomiting and constipation. An important gene associated with Mowat-Wilson Syndrome is ZEB2 (Zinc Finger E-Box Binding Homeobox 2). Affiliated tissues include eye, heart and brain, and related phenotypes are microcephaly 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.

NIH Rare Diseases : 52 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 : 56 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)

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

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 197)
# Related Disease Score Top Affiliating Genes
1 hirschsprung disease 1 32.9 ZEB2 SOX10 KIFBP GTDC1
2 alacrima, achalasia, and mental retardation syndrome 31.1 UBE3A TCF4 SLC9A6 MECP2
3 megacolon 30.5 ZEB2 SOX10 KIFBP
4 angelman syndrome 30.0 UBE3A TCF4 SLC9A7 SLC9A6 MECP2
5 microcephaly 29.9 ZEB2 UBE3A TCF4 SLC9A6 MECP2 MBD5
6 muckle-wells syndrome 12.4
7 marden-walker syndrome 12.1
8 goldberg-shprintzen syndrome 11.6
9 cryopyrin-associated periodic syndrome 11.5
10 vibratory urticaria 11.2
11 tularemia 11.2
12 hypospadias 10.7
13 constipation 10.6
14 corpus callosum, agenesis of 10.6
15 microphthalmia 10.6
16 epilepsy 10.5
17 craniosynostosis 10.5
18 seizure disorder 10.5
19 coloboma of macula 10.5
20 hypotonia 10.5
21 leprosy 3 10.4
22 hansen's disease 10.4
23 hypertelorism 10.4
24 enterocolitis 10.4
25 visual epilepsy 10.4
26 status epilepticus 10.4
27 meier-gorlin syndrome 2 10.4 ZEB2 GTDC1 ARHGAP15
28 epilepsy, idiopathic generalized 9 10.4 ZEB2 GTDC1 ARHGAP15
29 kleefstra syndrome 10.2 UBE3A SLC9A7 MBD5
30 epileptic encephalopathy, childhood-onset 10.2 SLC9A7 SLC9A6
31 rapidly involuting congenital hemangioma 10.2
32 medulloblastoma 10.2
33 optic nerve hypoplasia, bilateral 10.2
34 otitis media 10.2
35 retinal aplasia 10.2
36 strabismus 10.2
37 autism 10.2
38 charge syndrome 10.2
39 corpus callosum, partial agenesis of, x-linked 10.2
40 branchiootic syndrome 1 10.2
41 tracheobronchial stenosis, congenital 10.2
42 patent ductus arteriosus 1 10.2
43 choanal atresia, posterior 10.2
44 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
45 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.2
46 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.2
47 purpura fulminans 10.2
48 intestinal pseudo-obstruction 10.2
49 sensorineural hearing loss 10.2
50 diarrhea 10.2

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 31 (show top 50) (show all 192)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 58 31 very rare (1%) Very frequent (99-80%) HP:0000252
2 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%),Occasional (29-5%) HP:0002007
3 external ear malformation 58 31 hallmark (90%) Very frequent (99-80%) HP:0008572
4 deeply set eye 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%),Frequent (79-30%) HP:0000490
5 high forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000348
6 large earlobe 58 31 hallmark (90%) Very frequent (99-80%) HP:0009748
7 uplifted earlobe 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%),Frequent (79-30%) HP:0009909
8 abnormal eyebrow morphology 31 hallmark (90%) HP:0000534
9 hypertelorism 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%),Occasional (29-5%) HP:0000316
10 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
11 short stature 58 31 very rare (1%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0004322
12 everted lower lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000232
13 cryptorchidism 58 31 very rare (1%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0000028
14 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
15 epicanthus 58 31 frequent (33%) Frequent (79-30%),Very rare (<4-1%) HP:0000286
16 open mouth 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0000194
17 aganglionic megacolon 58 31 very rare (1%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0002251
18 fine hair 58 31 frequent (33%) Frequent (79-30%) HP:0002213
19 hypospadias 58 31 very rare (1%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0000047
20 tapered finger 58 31 frequent (33%) Frequent (79-30%) HP:0001182
21 aplasia/hypoplasia of the corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0007370
22 posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0000358
23 broad columella 58 31 frequent (33%) Frequent (79-30%) HP:0010761
24 seizure 31 very rare (1%) HP:0001250
25 wide nasal bridge 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%),Frequent (79-30%) HP:0000431
26 broad hallux phalanx 58 31 occasional (7.5%) Occasional (29-5%) HP:0010059
27 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
28 strabismus 58 31 very rare (1%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0000486
29 cleft palate 58 31 very rare (1%) Occasional (29-5%),Very rare (<4-1%),Very rare (<4-1%) HP:0000175
30 ectopic kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0000086
31 cerebral cortical atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002120
32 iris coloboma 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0000612
33 bifid scrotum 58 31 very rare (1%) Occasional (29-5%),Very rare (<4-1%),Very rare (<4-1%) HP:0000048
34 cleft upper lip 58 31 occasional (7.5%) Occasional (29-5%) HP:0000204
35 microphthalmia 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0000568
36 tetralogy of fallot 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0001636
37 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%),Very rare (<4-1%) HP:0001643
38 vesicoureteral reflux 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0000076
39 hydronephrosis 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0000126
40 aplasia/hypoplasia of the cerebellum 58 31 occasional (7.5%) Occasional (29-5%) HP:0007360
41 constipation 58 31 very rare (1%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0002019
42 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
43 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%),Very rare (<4-1%) HP:0001629
44 pointed chin 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%),Frequent (79-30%) HP:0000307
45 hallux valgus 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0001822
46 finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006101
47 camptodactyly of finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0100490
48 supernumerary nipple 58 31 occasional (7.5%) Occasional (29-5%) HP:0002558
49 deep plantar creases 58 31 occasional (7.5%) Occasional (29-5%) HP:0001869
50 absent speech 58 31 very rare (1%) Very frequent (99-80%),Very frequent (99-80%) HP:0001344

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
cataract
hypertelorism
ptosis
iris coloboma
chorioretinal coloboma
more
Head And Neck Nose:
wide nasal bridge
prominent nasal tip
columella extends below the ala nasi

Neurologic Central Nervous System:
seizures
hypoplasia of the corpus callosum
hypotonia
delayed motor development
agenesis of the corpus callosum
more
Growth Height:
short stature

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 Teeth:
widely spaced teeth
delayed tooth eruption
malpositioned teeth

Chest External Features:
pectus carinatum
pectus excavatum

Head And Neck Head:
microcephaly
pointed chin

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

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

UMLS symptoms related to Mowat-Wilson Syndrome:


seizures, vomiting, constipation

MGI Mouse Phenotypes related to Mowat-Wilson Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.32 FOXG1 KIFBP MBD5 MECP2 SLC9A6 SOX10

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 29 ZEB2

Anatomical Context for Mowat-Wilson Syndrome

MalaCards organs/tissues related to Mowat-Wilson Syndrome:

40
Eye, Heart, Brain, Colon, Skin, Kidney, Cerebellum

Publications for Mowat-Wilson Syndrome

Articles related to Mowat-Wilson Syndrome:

(show top 50) (show all 173)
# Title Authors PMID Year
1
ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome. 56 6 24 61
23466526 2013
2
A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype. 61 24 6 56
16688751 2006
3
Atypical ZFHX1B mutation associated with a mild Mowat-Wilson syndrome phenotype. 56 61 24 6
16532472 2006
4
Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation. 61 24 6 56
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. 24 56 6
9719364 1998
6
Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome. 61 56 6
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 6 56
11891681 2002
8
Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients. 61 24 56
27831545 2017
9
Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype. 61 56 24
23322667 2013
10
The behavioral phenotype of Mowat-Wilson syndrome. 24 56 61
22246645 2012
11
Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature. 24 56 61
19215041 2009
12
Recurrence of Mowat-Wilson syndrome in siblings with a novel mutation in the ZEB2 gene. 24 56 61
19006215 2008
13
ZFHX1B mutations in patients with Mowat-Wilson syndrome. 61 56 24
17203459 2007
14
Clinical features and management issues in Mowat-Wilson syndrome. 56 24 61
17103451 2006
15
Clinical and mutational spectrum of Mowat-Wilson syndrome. 61 24 56
16053902 2005
16
Mowat-Wilson syndrome. 56 24 61
12746390 2003
17
Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures. 56 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. 6 56
11592033 2001
19
Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease. 6 56
11448942 2001
20
Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease. 56 6
11279515 2001
21
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care. 24 61 52
29300384 2018
22
Late infantile Hirschsprung disease-mental retardation syndrome with a 3-bp deletion in ZFHX1B. 56 24
12451214 2002
23
Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome. 61 56
25899569 2015
24
Clinical utility gene card for: Mowat-Wilson syndrome. 61 6
21343952 2011
25
Mowat-Wilson syndrome: an underdiagnosed syndrome? 56 61
18445050 2008
26
Atypical Mowat-Wilson patient confirms the importance of the novel association between ZFHX1B/SIP1 and NuRD corepressor complex. 6 61
18182442 2008
27
Pulmonary artery sling and congenital tracheal stenosis in another patient with Mowat-Wilson syndrome. 56 61
17567886 2007
28
Mowat-Wilson Syndrome 61 6
20301585 2007
29
Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus. 61 56
16443855 2006
30
Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1. 61 56
15121779 2004
31
Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity. 56 61
14757866 2004
32
Facial phenotype allows diagnosis of Mowat-Wilson syndrome in the absence of Hirschsprung disease. 56 61
14679597 2004
33
Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the gene ZFHX1B (SIP1): confirmation of the Mowat-Wilson syndrome. 61 56
12522797 2003
34
Mowat-Wilson Syndrome Presenting With Purpura Fulminans. 61 24
30573661 2019
35
Anesthesia in Mowat-Wilson syndrome: information on 11 Italian patients. 24 61
29721247 2018
36
Electrical status epilepticus during sleep in Mowat-Wilson syndrome. 61 24
28501473 2017
37
Co-occurrence of rhabdomyosarcoma and Mowat-Wilson syndrome: is there a connection? 24 61
28230647 2017
38
Incontinence and psychological symptoms in individuals with Mowat-Wilson Syndrome. 61 24
28094084 2017
39
Difficult airway in Mowat-Wilson syndrome. 61 24
27687363 2016
40
Anaesthetic management of Mowat-Wilson syndrome. 24 61
27141118 2016
41
Sleep disturbance in Mowat-Wilson syndrome. 61 24
26686679 2016
42
Psychopharmacological Management of Problem Behaviors in Mowat-Wilson Syndrome. 61 24
26402313 2015
43
Mowat-Wilson syndrome: deafness in the first Egyptian case who was conceived by intracytoplasmic sperm injection. 24 61
24282181 2014
44
CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases. 61 24
25123255 2014
45
Mowat-Wilson syndrome: the first report of an association with central nervous system tumors. 61 24
24092421 2013
46
A new finding in a patient with Mowat Wilson syndrome: peripupillary atrophy and gingival hypertrophy. 61 24
23610866 2013
47
Dlx1&2-dependent expression of Zfhx1b (Sip1, Zeb2) regulates the fate switch between cortical and striatal interneurons. 61 24
23312518 2013
48
Avoiding pitfalls in molecular genetic testing: case studies of high-resolution array comparative genomic hybridization testing in the definitive diagnosis of Mowat-Wilson syndrome. 24 61
21497296 2011
49
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 24
21336163 2011
50
Supernumerary intestinal muscle coat in a patient with Hirschsprung disease/Mowat-Wilson syndrome. 24 61
20158378 2010

Variations for Mowat-Wilson Syndrome

ClinVar genetic disease variations for Mowat-Wilson Syndrome:

6 (show top 50) (show all 379) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ZEB2 NC_000002.12:g.(?_144517278)_(144517419_?)deldeletion Pathogenic 417344 2:145274845-145274986 2:144517278-144517419
2 ZEB2 NM_014795.4(ZEB2):c.3095del (p.Cys1032fs)deletion Pathogenic 405331 rs1060500653 2:145147568-145147568 2:144390001-144390001
3 ZEB2 NM_014795.4(ZEB2):c.3170G>A (p.Cys1057Tyr)SNV Pathogenic 431116 rs1135401790 2:145147493-145147493 2:144389926-144389926
4 ZEB2 NM_014795.4(ZEB2):c.3109A>T (p.Lys1037Ter)SNV Pathogenic 437324 rs1553960793 2:145147554-145147554 2:144389987-144389987
5 ZEB2 NM_014795.4(ZEB2):c.2072G>A (p.Trp691Ter)SNV Pathogenic 437332 rs1553961610 2:145156682-145156682 2:144399115-144399115
6 ZEB2 NM_014795.4(ZEB2):c.1489C>T (p.Gln497Ter)SNV Pathogenic 437333 rs1553961702 2:145157265-145157265 2:144399698-144399698
7 ZEB2 NM_014795.4(ZEB2):c.2211_2214dup (p.Ile739fs)duplication Pathogenic 448970 rs1553961585 2:145156539-145156540 2:144398972-144398973
8 ZEB2 NC_000002.12:g.(?_144517258)_(144517420_?)deldeletion Pathogenic 466272 2:144517258-144517420
9 ZEB2 NM_014795.4(ZEB2):c.2038_2152dup (p.Asn718delinsSerCysGlyProSerSerGlyIleCysGluGlyMetValTer)duplication Pathogenic 466279 rs1553961598 2:145156601-145156602 2:144399034-144399035
10 ZEB2 NM_014795.4(ZEB2):c.481del (p.Val161fs)deletion Pathogenic 466289 rs1553962198 2:145162514-145162514 2:144404947-144404947
11 ZEB2 NM_014795.4(ZEB2):c.2688dup (p.Ala897fs)duplication Pathogenic 466281 rs1553961510 2:145156065-145156066 2:144398498-144398499
12 ZEB2 NM_014795.4(ZEB2):c.234_235del (p.Leu79fs)deletion Pathogenic 534631 rs1553964147 2:145187432-145187433 2:144429865-144429866
13 ZEB2 NM_014795.4(ZEB2):c.2806del (p.Ala936fs)deletion Pathogenic 534632 rs1553961487 2:145155948-145155948 2:144398381-144398381
14 ZEB2 NM_014795.4(ZEB2):c.71dup (p.Asn24fs)duplication Pathogenic 559637 rs1553971826 2:145274846-145274847 2:144517279-144517280
15 ZEB2 NM_014795.4(ZEB2):c.2757del (p.Leu920fs)deletion Pathogenic 561145 rs1560605892 2:145155997-145155997 2:144398430-144398430
16 ZEB2 NM_014795.4(ZEB2):c.502C>T (p.Gln168Ter)SNV Pathogenic 561146 rs1560609721 2:145162493-145162493 2:144404926-144404926
17 ZEB2 NM_014795.4(ZEB2):c.808-2A>GSNV Pathogenic 569478 rs1560607925 2:145158876-145158876 2:144401309-144401309
18 ZEB2 NM_014795.4(ZEB2):c.432dup (p.Glu145Ter)duplication Pathogenic 572710 rs1560609810 2:145162562-145162563 2:144404995-144404996
19 ZEB2 NM_014795.4(ZEB2):c.351T>A (p.Tyr117Ter)SNV Pathogenic 567647 rs1560618505 2:145182415-145182415 2:144424848-144424848
20 ZEB2 NM_014795.4(ZEB2):c.236_239del (p.Leu78_Leu79insTer)deletion Pathogenic 569754 rs1560620837 2:145187428-145187431 2:144429861-144429864
21 ZEB2 NM_014795.4(ZEB2):c.1570dup (p.Ser524fs)duplication Pathogenic 571056 rs1560606974 2:145157183-145157184 2:144399616-144399617
22 ZEB2 NM_014795.4(ZEB2):c.2227del (p.Ser743fs)deletion Pathogenic 547835 rs1553961580 2:145156527-145156527 2:144398960-144398960
23 ZEB2 NM_014795.4(ZEB2):c.3025C>T (p.Gln1009Ter)SNV Pathogenic 572098 rs1560604977 2:145154021-145154021 2:144396454-144396454
24 ZEB2 NM_014795.4(ZEB2):c.2337del (p.Ser780fs)deletion Pathogenic 569753 rs1560606294 2:145156417-145156417 2:144398850-144398850
25 ZEB2 NM_014795.4(ZEB2):c.1956C>A (p.Tyr652Ter)SNV Pathogenic 589324 rs587784563 2:145156798-145156798 2:144399231-144399231
26 ZEB2 NM_014795.4(ZEB2):c.703G>T (p.Glu235Ter)SNV Pathogenic 619079 2:145161587-145161587 2:144404020-144404020
27 ZEB2 NM_014795.4(ZEB2):c.1017del (p.Ser339_Val340insTer)deletion Pathogenic 650576 2:145157737-145157737 2:144400170-144400170
28 ZEB2 NM_014795.4(ZEB2):c.855_856AG[1] (p.Glu286fs)short repeat Pathogenic 641571 2:145158824-145158825 2:144401257-144401258
29 ZEB2 NM_014795.4(ZEB2):c.585del (p.Glu196fs)deletion Pathogenic 661350 2:145162410-145162410 2:144404843-144404843
30 ZEB2 NM_014795.4(ZEB2):c.1387del (p.Val463fs)deletion Pathogenic 692022 2:145157367-145157367 2:144399800-144399800
31 ZEB2 NM_014795.4(ZEB2):c.656del (p.Gly219fs)deletion Pathogenic 691991 2:145161634-145161634 2:144404067-144404067
32 ZEB2 NM_014795.4(ZEB2):c.2996_3003del (p.Met998_Tyr999insTer)deletion Pathogenic 801754 2:145154043-145154050 2:144396476-144396483
33 ZEB2 NM_014795.4(ZEB2):c.2095C>T (p.Gln699Ter)SNV Pathogenic 801755 2:145156659-145156659 2:144399092-144399092
34 ZEB2 NM_014795.4(ZEB2):c.192_193TG[1] (p.Val65fs)short repeat Pathogenic 801757 2:145187472-145187473 2:144429905-144429906
35 ZEB2 NM_014795.4(ZEB2):c.770_771del (p.Glu257fs)deletion Pathogenic 807524 2:145161519-145161520 2:144403952-144403953
36 ZEB2 NM_014795.4(ZEB2):c.425_429del (p.Ser142fs)deletion Pathogenic 807525 2:145162566-145162570 2:144404999-144405003
37 ZEB2 NM_014795.4(ZEB2):c.1434C>A (p.Cys478Ter)SNV Pathogenic 846691 2:145157320-145157320 2:144399753-144399753
38 ZEB2 NM_014795.4(ZEB2):c.1277T>A (p.Leu426Ter)SNV Pathogenic 844347 2:145157477-145157477 2:144399910-144399910
39 ZEB2 NM_014795.4(ZEB2):c.2303del (p.Asn768fs)deletion Pathogenic 869448 2:145156451-145156451 2:144398884-144398884
40 ZEB2 NM_014795.4(ZEB2):c.2453dup (p.Leu818fs)duplication Pathogenic 4759 rs587776606 2:145156300-145156301 2:144398733-144398734
41 ZEB2 NM_014795.4(ZEB2):c.1892del (p.Asn631fs)deletion Pathogenic 4760 rs587776607 2:145156862-145156862 2:144399295-144399295
42 ZEB2 NM_014795.4(ZEB2):c.1645A>T (p.Arg549Ter)SNV Pathogenic 4754 rs137852980 2:145157109-145157109 2:144399542-144399542
43 ZEB2 NM_014795.4(ZEB2):c.2083C>T (p.Arg695Ter)SNV Pathogenic 4755 rs137852981 2:145156671-145156671 2:144399104-144399104
44 ZEB2 NM_014795.4(ZEB2):c.1173_1176del (p.Thr392fs)deletion Pathogenic 4756 rs587776603 2:145157578-145157581 2:144400011-144400014
45 ZEB2 NM_014795.4(ZEB2):c.1426dup (p.Met476fs)duplication Pathogenic 4757 rs587776604 2:145157327-145157328 2:144399760-144399761
46 ZEB2 NM_014795.4(ZEB2):c.760_761dup (p.Gln255fs)duplication Pathogenic 4758 rs587776605 2:145161528-145161529 2:144403961-144403962
47 ZEB2 NM_014795.4(ZEB2):c.553_554insTG (p.Arg185fs)insertion Pathogenic 4761 rs587776608 2:145162441-145162442 2:144404874-144404875
48 ZEB2 NM_014795.4(ZEB2):c.2555C>G (p.Ser852Ter)SNV Pathogenic 4762 rs137852982 2:145156199-145156199 2:144398632-144398632
49 ZEB2 NM_014795.4(ZEB2):c.3566_3567dup (p.Met1190fs)duplication Pathogenic 4763 rs587776609 2:145147095-145147096 2:144389528-144389529
50 ZEB2 NM_014795.4(ZEB2):c.493G>T (p.Glu165Ter)SNV Pathogenic 843162 2:145162502-145162502 2:144404935-144404935

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 ZFHX1B Mowat-Wilson syndrome

Expression for Mowat-Wilson Syndrome

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

Pathways for Mowat-Wilson Syndrome

GO Terms for Mowat-Wilson Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 regulation of intracellular pH GO:0051453 9.43 SLC9A7 SLC9A6
2 positive regulation of neuroblast proliferation GO:0002052 9.4 SOX10 FOXG1
3 embryonic morphogenesis GO:0048598 9.37 ZEB2 ZEB1
4 nervous system development GO:0007399 9.35 ZEB2 ZEB1 TCF4 MBD5 KIFBP
5 positive regulation of neuron differentiation GO:0045666 9.33 ZEB1 TCF4 FOXG1
6 regulation of pH GO:0006885 9.32 SLC9A7 SLC9A6
7 sodium ion import across plasma membrane GO:0098719 9.26 SLC9A7 SLC9A6
8 negative regulation of transcription by RNA polymerase II GO:0000122 9.1 ZEB2 ZEB1 TCF4 SOX10 MECP2 FOXG1

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 9.92 ZEB2 ZEB1 ZBTB11 TCF4 SOX10 MECP2
2 solute:proton antiporter activity GO:0015299 9.26 SLC9A7 SLC9A6
3 sodium:proton antiporter activity GO:0015385 9.16 SLC9A7 SLC9A6
4 chromatin binding GO:0003682 9.02 ZEB1 TCF4 SOX10 MECP2 MBD5
5 potassium:proton antiporter activity GO:0015386 8.96 SLC9A7 SLC9A6

Sources for Mowat-Wilson Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....