MOWS
MCID: MWT001
MIFTS: 46

Mowat-Wilson Syndrome (MOWS) malady

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

Aliases & Classifications for Mowat-Wilson Syndrome

Aliases & Descriptions for Mowat-Wilson Syndrome:

Name: Mowat-Wilson Syndrome 54 12 71 23 50 24 25 56 66 29 13 42 14 69
Hirschsprung Disease-Mental Retardation Syndrome 24 25 66
Hirschsprung Disease-Intellectual Disability Syndrome 23 56
Hirschsprung Disease Mental Retardation Syndrome 12 50
Microcephaly, Mental Retardation, and Distinct Facial Features, with or Without Hirschsprung Disease 25
Microcephaly, Mental Retardation, and Distinct Facial Featrues, with or Without Hirschprung Disease 12
Mental Retardation, Microcephaly, and Distinct Facial Features with or Without Hirschsprung Disease 50
Microcephaly, Mental Retardation, Distinct Facial Features with or Without Hirschsprung Disease 66
Mows 66
Mws 25

Characteristics:

Orphanet epidemiological data:

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

GeneReviews:

23
mowat-wilson syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance Penetrance appears to be complete...

Classifications:



External Ids:

OMIM 54 235730
Disease Ontology 12 DOID:0060485
NCIt 47 C74999
SNOMED-CT 64 703535000
Orphanet 56 ORPHA2152
MESH via Orphanet 43 C536990
UMLS via Orphanet 70 C1856113
ICD10 via Orphanet 34 Q43.1
MedGen 40 C1856113
UMLS 69 C1856113

Summaries for Mowat-Wilson Syndrome

Disease Ontology : 12 A syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease, genitourinary anomalies (in particular hypospadias in males), congenital heart defects, agenesis of the corpus callosum and eye anomalies. It has material basis in de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22.

MalaCards based summary : Mowat-Wilson Syndrome, also known as hirschsprung disease-mental retardation syndrome, is related to mowat-wilson syndrome due to monosomy 2q22 and mowat-wilson syndrome due to a zeb2 point mutation, and has symptoms including constipation, seizures and hypertelorism. An important gene associated with Mowat-Wilson Syndrome is ZEB2 (Zinc Finger E-Box Binding Homeobox 2). Affiliated tissues include eye, heart and kidney.

Genetics Home Reference : 25 Mowat-Wilson syndrome is a genetic condition that affects many parts of the body. Major signs of this disorder frequently include distinctive facial features, intellectual disability, delayed development, an intestinal disorder called Hirschsprung disease, and other birth defects.

NIH Rare Diseases : 50 mowat-wilson syndrome (mws) is a rare genetic disorder that affects many systems of the body. the main features include moderate to severe intellectual disability, distinctive facial features, and epilepsy. other features may include hirschsprung disease; heart (cardiac) defects; kidney (renal) abnormalities; genital abnormalities; eye abnormalities; and short stature. it is caused by a mutation or deletion in the zeb2 gene, which usually occurs for the first time (sporadically) in affected people. treatment typically focuses on the specific symptoms in each person. last updated: 3/10/2014

OMIM : 54 Mowat-Wilson syndrome is an autosomal dominant complex developmental disorder; individuals with functional null... (235730) more...

UniProtKB/Swiss-Prot : 66 Mowat-Wilson syndrome: A complex developmental disorder characterized by mental retardation, delayed motor development, epilepsy, microcephaly and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Affected patients show an easily recognizable facial appearance with deep set eyes and hypertelorism, medially divergent, broad eyebrows, prominent columella, pointed chin and uplifted, notched ear lobes. Some patients manifest Hirschsprung disease.

GeneReviews: NBK1412

Related Diseases for Mowat-Wilson Syndrome

Diseases in the Mowat-Wilson Syndrome family:

Mowat-Wilson Syndrome Due to Monosomy 2q22 Mowat-Wilson Syndrome Due to a Zeb2 Point Mutation

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

(show all 46)
id Related Disease Score Top Affiliating Genes
1 mowat-wilson syndrome due to monosomy 2q22 12.2
2 mowat-wilson syndrome due to a zeb2 point mutation 12.1
3 muckle-wells syndrome 11.7
4 marden-walker syndrome 11.6
5 hirschsprung disease 1 11.2
6 goldberg-shprintzen megacolon syndrome 11.2
7 cryopyrin-associated periodic syndrome 11.1
8 craniosynostosis 10.3
9 epilepsy 10.2
10 spinal meningioma 10.1 EDNRB ZEB2
11 night blindness, congenital stationary , 1a, x-linked 10.0 POGZ ZEB2
12 skin pilomatrix carcinoma 10.0 EDNRB ZEB2
13 gingival hypertrophy 10.0
14 hypospadias 10.0
15 ehlers-danlos syndrome 10.0
16 polymicrogyria 10.0
17 status epilepticus 10.0
18 congenital tracheal stenosis 10.0
19 corpus callosum agenesis 10.0
20 gingivitis 10.0
21 intellectual disability 10.0
22 tracheal stenosis 10.0
23 dysphagia 10.0
24 rhabdomyosarcoma 10.0
25 laryngitis 10.0
26 mental retardation, truncal obesity, retinal dystrophy, and micropenis 9.9 KANSL1 MBD5
27 leprosy 9.9
28 leishmaniasis 9.8
29 lepromatous leprosy 9.8
30 visceral leishmaniasis 9.8
31 wells syndrome 9.8
32 keratoconus 9.6
33 leukemia 9.6
34 autoimmune hemolytic anemia 9.6
35 pemphigus vulgaris 9.6
36 borderline leprosy 9.6
37 amyloidosis 9.6
38 pemphigus 9.6
39 hiv-1 9.6
40 hepatocellular carcinoma 9.6
41 melanoma 9.6
42 dermatitis 9.6
43 chronic lymphocytic leukemia 9.6
44 hemolytic anemia 9.6
45 granulomatous dermatitis 9.6
46 epilepsy, idiopathic generalized 9 8.8 CNTNAP5 EDNRB EPC2 KANSL1 MBD5 NLRP3

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



Diseases related to Mowat-Wilson Syndrome

Symptoms & Phenotypes for Mowat-Wilson Syndrome

Symptoms by clinical synopsis from OMIM:

235730

Clinical features from OMIM:

235730

Human phenotypes related to Mowat-Wilson Syndrome:

56 32 (show top 50) (show all 80)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 56 32 Occasional (29-5%) HP:0002019
2 seizures 56 32 Frequent (79-30%) HP:0001250
3 hypertelorism 56 32 Frequent (79-30%) HP:0000316
4 frontal bossing 56 32 Very frequent (99-80%) HP:0002007
5 finger syndactyly 56 32 Occasional (29-5%) HP:0006101
6 high palate 56 32 Frequent (79-30%) HP:0000218
7 nystagmus 56 32 Occasional (29-5%) HP:0000639
8 muscular hypotonia 56 32 Frequent (79-30%) HP:0001252
9 wide nasal bridge 56 32 Occasional (29-5%) HP:0000431
10 microcephaly 56 32 Very frequent (99-80%) HP:0000252
11 short stature 56 32 Frequent (79-30%) HP:0004322
12 broad hallux phalanx 56 32 Occasional (29-5%) HP:0010059
13 cleft palate 56 32 Occasional (29-5%) HP:0000175
14 ectopic kidney 56 32 Occasional (29-5%) HP:0000086
15 strabismus 56 32 Occasional (29-5%) HP:0000486
16 patent ductus arteriosus 56 32 Occasional (29-5%) HP:0001643
17 epicanthus 56 32 Frequent (79-30%) HP:0000286
18 everted lower lip vermilion 56 32 Frequent (79-30%) HP:0000232
19 cryptorchidism 56 32 Frequent (79-30%) HP:0000028
20 ventriculomegaly 56 32 Occasional (29-5%) HP:0002119
21 cerebral cortical atrophy 56 32 Occasional (29-5%) HP:0002120
22 aplasia/hypoplasia of the cerebellum 56 32 Occasional (29-5%) HP:0007360
23 abnormality of the eyebrow 56 32 Very frequent (99-80%) HP:0000534
24 aganglionic megacolon 56 32 Frequent (79-30%) HP:0002251
25 microphthalmia 56 32 Occasional (29-5%) HP:0000568
26 hypospadias 56 32 Frequent (79-30%) HP:0000047
27 deeply set eye 56 32 Very frequent (99-80%) HP:0000490
28 open mouth 56 32 Frequent (79-30%) HP:0000194
29 vesicoureteral reflux 56 32 Occasional (29-5%) HP:0000076
30 tetralogy of fallot 56 32 Occasional (29-5%) HP:0001636
31 ventricular septal defect 56 32 Occasional (29-5%) HP:0001629
32 fine hair 56 32 Frequent (79-30%) HP:0002213
33 pointed chin 56 32 Occasional (29-5%) HP:0000307
34 high forehead 56 32 Very frequent (99-80%) HP:0000348
35 hallux valgus 56 32 Occasional (29-5%) HP:0001822
36 iris coloboma 56 32 Occasional (29-5%) HP:0000612
37 camptodactyly of finger 56 32 Occasional (29-5%) HP:0100490
38 bifid scrotum 56 32 Occasional (29-5%) HP:0000048
39 external ear malformation 56 32 Very frequent (99-80%) HP:0008572
40 cleft upper lip 56 32 Occasional (29-5%) HP:0000204
41 large earlobe 56 32 Very frequent (99-80%) HP:0009748
42 hydronephrosis 56 32 Occasional (29-5%) HP:0000126
43 tapered finger 56 32 Frequent (79-30%) HP:0001182
44 aplasia/hypoplasia of the corpus callosum 56 32 Frequent (79-30%) HP:0007370
45 supernumerary nipple 56 32 Occasional (29-5%) HP:0002558
46 deep plantar creases 56 32 Occasional (29-5%) HP:0001869
47 broad columella 56 32 Frequent (79-30%) HP:0010761
48 posteriorly rotated ears 56 32 Frequent (79-30%) HP:0000358
49 uplifted earlobe 56 32 Very frequent (99-80%) HP:0009909
50 vomiting 32 HP:0002013

UMLS symptoms related to Mowat-Wilson Syndrome:


constipation, seizures, vomiting

Drugs & Therapeutics for Mowat-Wilson Syndrome

Search Clinical Trials , NIH Clinical Center for Mowat-Wilson Syndrome

Cochrane evidence based reviews: mowat-wilson syndrome

Genetic Tests for Mowat-Wilson Syndrome

Genetic tests related to Mowat-Wilson Syndrome:

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

Anatomical Context for Mowat-Wilson Syndrome

MalaCards organs/tissues related to Mowat-Wilson Syndrome:

39
Eye, Heart, Kidney, Cerebellum, Testes

Publications for Mowat-Wilson Syndrome

Articles related to Mowat-Wilson Syndrome:

(show top 50) (show all 81)
id Title Authors Year
1
Co-occurrence of rhabdomyosarcoma and Mowat-Wilson syndrome: is there a connection? ( 28230647 )
2017
2
Incontinence and psychological symptoms in individuals with Mowat-Wilson Syndrome. ( 28094084 )
2017
3
Critical involvement of ZEB2 in collagen fibrillogenesis: the molecular similarity between Mowat-Wilson syndrome and Ehlers-Danlos syndrome. ( 28422173 )
2017
4
Electrical status epilepticus during sleep in Mowat-Wilson syndrome. ( 28501473 )
2017
5
Experience of Mowat-Wilson syndrome prenatal diagnosis for a Chinese family. ( 28096981 )
2017
6
Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients. ( 27831545 )
2016
7
Anaesthetic management of Mowat-Wilson syndrome. ( 27141118 )
2016
8
Difficult airway in Mowat-Wilson syndrome. ( 27687363 )
2016
9
Sleep disturbance in Mowat-Wilson syndrome. ( 26686679 )
2016
10
A Diagnosis to Consider in Intellectual Disability: Mowat-Wilson Syndrome. ( 26809768 )
2016
11
Novel Zeb2 gene variation in the Mowat Wilson syndrome (MWS). ( 26852091 )
2016
12
Erratum to "the spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations". ( 26057116 )
2015
13
Mowat-Wilson syndrome. ( 25608118 )
2015
14
De novo inbred heterozygous Zeb2/Sip1 mutant mice uniquely generated by germ-line conditional knockout exhibit craniofacial, callosal and behavioral defects associated with Mowat-Wilson syndrome. ( 26319231 )
2015
15
Mowat-Wilson syndrome: neurological and molecular study in seven patients. ( 25608121 )
2015
16
HIRSCHSPRUNG DISEASE ASSOCIATED WITH MOWAT-WILSON SYNDROME: REPORT OF A CASE. ( 25795985 )
2015
17
Psychopharmacological Management of Problem Behaviors in Mowat-Wilson Syndrome. ( 26402313 )
2015
18
"CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases" American Journal of Medical Genetics Part A. 164:2557-2566, 2014. ( 26097173 )
2015
19
Polymicrogyria in a 10-month-old boy with Mowat-Wilson syndrome. ( 26012591 )
2015
20
Hirschsprung's disease in children with Mowat-Wilson syndrome. ( 26156877 )
2015
21
Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome. ( 25899569 )
2015
22
CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases. ( 25123255 )
2014
23
ZEB2 Gene Mutation and Duplication of 22q11.23 in Mowat-Wilson Syndrome. ( 25028418 )
2014
24
Ocular phenotype of Mowat-Wilson syndrome in the first reported Cypriot patients: an under-recognized association. ( 24263623 )
2014
25
Mowat-Wilson syndrome associated with craniosynostosis. ( 24300291 )
2014
26
Hirschsprung's disease associated with Mowat-Wilson syndrome. ( 24827654 )
2014
27
The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations. ( 24715670 )
2014
28
Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype. ( 23322667 )
2013
29
Mowat-Wilson Syndrome: Deafness in the First Egyptian Case Who Was Conceived by Intracytoplasmic Sperm Injection. ( 24282181 )
2013
30
Recurrent structural malformations identified among Mowat-Wilson syndrome fetuses. ( 24375696 )
2013
31
ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome. ( 23466526 )
2013
32
A new finding in a patient with Mowat Wilson syndrome: peripupillary atrophy and gingival hypertrophy. ( 23610866 )
2013
33
Epilepsy in Mowat-Wilson syndrome: is it a matter of GABA? ( 23815573 )
2013
34
Mowat-Wilson syndrome in a fetus with antenatal diagnosis of short corpus callosum: advocacy for standard autopsy. ( 23523603 )
2013
35
Vagus nerve stimulation for drug-resistant epilepsy in a patient with Mowat-Wilson syndrome. ( 23860154 )
2013
36
Mowat-Wilson syndrome detected by using high resolution microarray. ( 24029077 )
2013
37
Mowat-Wilson syndrome: the first report of an association with central nervous system tumors. ( 24092421 )
2013
38
The behavioral phenotype of Mowat-Wilson syndrome. ( 22246645 )
2012
39
A novel long-range enhancer regulates postnatal expression of Zeb2: implications for Mowat-Wilson syndrome phenotypes. ( 23001561 )
2012
40
A case of Mowat-Wilson syndrome caused by a truncating mutation within exon 8 of the ZEB2 gene. ( 23427518 )
2012
41
Mowat-Wilson syndrome: the first clinical and molecular report of an indonesian patient. ( 23243526 )
2012
42
Ophthalmologic abnormalities in Mowat-Wilson syndrome and a mutation in ZEB2. ( 22486326 )
2012
43
Avoiding pitfalls in molecular genetic testing: case studies of high-resolution array comparative genomic hybridization testing in the definitive diagnosis of Mowat-Wilson syndrome. ( 21497296 )
2011
44
Intrahepatic biliary anomalies in a patient with Mowat-Wilson syndrome uncover a role for the zinc finger homeobox gene zfhx1b in vertebrate biliary development. ( 21336163 )
2011
45
Clinical utility gene card for: Mowat-Wilson syndrome. ( 21343952 )
2011
46
Supernumerary intestinal muscle coat in a patient with Hirschsprung disease/Mowat-Wilson syndrome. ( 20158378 )
2010
47
Second-trimester detection of Mowat-Wilson syndrome using comparative genomic hybridization microarray testing. ( 20093881 )
2010
48
Mowat-Wilson syndrome: the first two Malaysian cases. ( 20428734 )
2010
49
Mowat-Wilson syndrome with associated dysphagia. ( 20101699 )
2010
50
Severe clinical course of Hirschsprung disease in a Mowat-Wilson syndrome patient. ( 20145308 )
2010

Variations for Mowat-Wilson Syndrome

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

66
id Symbol AA change Variation ID SNP ID
1 ZEB2 p.Arg953Gly VAR_027017
2 ZEB2 p.Gln1119Arg VAR_027018 rs137852983

ClinVar genetic disease variations for Mowat-Wilson Syndrome:

6 (show top 50) (show all 87)
id Gene Variation Type Significance SNP ID Assembly Location
1 ZEB2 NM_014795.3(ZEB2): c.3566_3567dupCC (p.Met1190Profs) duplication Pathogenic rs587776609 GRCh38 Chromosome 2, 144389529: 144389530
2 ZEB2 NM_014795.3(ZEB2): c.1645A> T (p.Arg549Ter) single nucleotide variant Pathogenic rs137852980 GRCh37 Chromosome 2, 145157109: 145157109
3 ZEB2 NM_014795.3(ZEB2): c.2083C> T (p.Arg695Ter) single nucleotide variant Pathogenic rs137852981 GRCh37 Chromosome 2, 145156671: 145156671
4 ZEB2 NM_014795.3(ZEB2): c.1173_1176delAACA (p.Thr392Asnfs) deletion Pathogenic rs587776603 GRCh37 Chromosome 2, 145157578: 145157581
5 ZEB2 NM_014795.3(ZEB2): c.1426dupA (p.Met476Asnfs) duplication Pathogenic rs587776604 GRCh37 Chromosome 2, 145157328: 145157328
6 ZEB2 NM_014795.3(ZEB2): c.760_761dupAC (p.Gln255Profs) duplication Pathogenic rs587776605 GRCh37 Chromosome 2, 145161529: 145161530
7 ZEB2 NM_014795.3(ZEB2): c.2453dupT (p.Leu818Phefs) duplication Pathogenic rs587776606 GRCh37 Chromosome 2, 145156301: 145156301
8 ZEB2 NM_014795.3(ZEB2): c.1892delA (p.Asn631Ilefs) deletion Pathogenic rs587776607 GRCh37 Chromosome 2, 145156862: 145156862
9 ZEB2 NM_014795.3(ZEB2): c.553_554insTG (p.Arg185Leufs) insertion Pathogenic rs587776608 GRCh37 Chromosome 2, 145162441: 145162442
10 ZEB2 NM_014795.3(ZEB2): c.2555C> G (p.Ser852Ter) single nucleotide variant Pathogenic rs137852982 GRCh37 Chromosome 2, 145156199: 145156199
11 ZEB2 NC_000002.12 deletion Pathogenic GRCh38 Chromosome 2, 144114719: 144681958
12 ZEB2 NM_014795.3(ZEB2): c.1862delT (p.Val621Alafs) deletion Pathogenic rs587776611 GRCh37 Chromosome 2, 145156892: 145156892
13 ZEB2 NM_014795.3(ZEB2): c.-69-1G> A single nucleotide variant Pathogenic rs587776612 GRCh37 Chromosome 2, 145274987: 145274987
14 ZEB2 NM_014795.3(ZEB2): c.3356A> G (p.Gln1119Arg) single nucleotide variant Pathogenic rs137852983 GRCh37 Chromosome 2, 145147307: 145147307
15 ZEB2 NM_014795.3(ZEB2): c.3211T> C (p.Ser1071Pro) single nucleotide variant Pathogenic rs397515448 GRCh37 Chromosome 2, 145147452: 145147452
16 ZEB2 NM_014795.3(ZEB2): c.3134A> G (p.His1045Arg) single nucleotide variant Pathogenic rs397515449 GRCh37 Chromosome 2, 145147529: 145147529
17 ZEB2 NM_014795.3(ZEB2): c.1381C> T (p.Gln461Ter) single nucleotide variant Pathogenic rs398124274 GRCh37 Chromosome 2, 145157373: 145157373
18 ZEB2 NM_014795.3(ZEB2): c.1541dupC (p.Val515Glyfs) duplication Pathogenic rs398124275 GRCh37 Chromosome 2, 145157213: 145157213
19 ZEB2 NM_014795.3(ZEB2): c.1586delC (p.Thr529Serfs) deletion Pathogenic rs398124276 GRCh37 Chromosome 2, 145157168: 145157168
20 ZEB2 NM_014795.3(ZEB2): c.2032delT (p.Ser678Profs) deletion Pathogenic rs398124277 GRCh37 Chromosome 2, 145156722: 145156722
21 ZEB2 NM_014795.3(ZEB2): c.2174_2177dupACTC (p.Leu728Phefs) duplication Pathogenic rs398124278 GRCh37 Chromosome 2, 145156577: 145156580
22 ZEB2 NM_014795.3(ZEB2): c.3359_3364delGGTACTinsTAATG (p.Gly1120Valfs) indel Pathogenic rs398124280 GRCh37 Chromosome 2, 145147299: 145147304
23 ZEB2 NM_014795.3(ZEB2): c.643_659del17 (p.Tyr215Glnfs) deletion Pathogenic rs398124281 GRCh37 Chromosome 2, 145161631: 145161647
24 ZEB2 NM_014795.3(ZEB2): c.73+2T> C single nucleotide variant Pathogenic rs398124282 GRCh37 Chromosome 2, 145274843: 145274843
25 ZEB2 NM_014795.3(ZEB2): c.782_783delTG (p.Val261Aspfs) deletion Pathogenic rs398124283 GRCh37 Chromosome 2, 145161507: 145161508
26 ZEB2 NM_014795.3(ZEB2): c.805C> T (p.Gln269Ter) single nucleotide variant Pathogenic rs398124284 GRCh37 Chromosome 2, 145161485: 145161485
27 ZEB2 NM_014795.3(ZEB2): c.2761C> T (p.Arg921Ter) single nucleotide variant Pathogenic rs587784566 GRCh38 Chromosome 2, 144398426: 144398426
28 ZEB2 NM_014795.3(ZEB2): c.2501delA (p.Lys834Argfs) deletion Pathogenic rs587784565 GRCh38 Chromosome 2, 144398686: 144398686
29 ZEB2 NM_014795.3(ZEB2): c.1956C> T (p.Tyr652=) single nucleotide variant Pathogenic rs587784563 GRCh38 Chromosome 2, 144399231: 144399231
30 ZEB2 NM_014795.3(ZEB2): c.904C> T (p.Arg302Ter) single nucleotide variant Pathogenic rs587784571 GRCh37 Chromosome 2, 145158778: 145158778
31 ZEB2 NM_014795.3(ZEB2): c.823C> T (p.Gln275Ter) single nucleotide variant Pathogenic rs587784570 GRCh37 Chromosome 2, 145158859: 145158859
32 ZEB2 NM_014795.3(ZEB2): c.550_568del19 (p.Ser184Argfs) deletion Pathogenic rs587784568 GRCh37 Chromosome 2, 145162427: 145162445
33 ZEB2 NM_014795.3(ZEB2): c.280G> T (p.Glu94Ter) single nucleotide variant Pathogenic rs727504228 GRCh37 Chromosome 2, 145187387: 145187387
34 ZEB2 NM_014795.3(ZEB2): c.1876G> T (p.Gly626Ter) single nucleotide variant Pathogenic rs727504224 GRCh37 Chromosome 2, 145156878: 145156878
35 ZEB2 NM_014795.3(ZEB2): c.3533delC (p.Thr1178Argfs) deletion Pathogenic rs727504223 GRCh37 Chromosome 2, 145147130: 145147130
36 ZEB2 NM_014795.3(ZEB2): c.1218delA (p.His407Thrfs) deletion Pathogenic rs727504226 GRCh37 Chromosome 2, 145157536: 145157536
37 ZEB2 NM_014795.3(ZEB2): c.930C> A (p.Tyr310Ter) single nucleotide variant Pathogenic rs6711223 GRCh37 Chromosome 2, 145157824: 145157824
38 ZEB2 NM_014795.3(ZEB2): c.304dupA (p.Ile102Asnfs) duplication Pathogenic rs786200997 GRCh37 Chromosome 2, 145187363: 145187363
39 ZEB2 NM_014795.3(ZEB2): c.289delT (p.Trp97Glyfs) deletion Pathogenic rs727503784 GRCh37 Chromosome 2, 145187378: 145187378
40 ZEB2 NM_014795.3(ZEB2): c.3499delA (p.Ser1167Valfs) deletion Pathogenic rs730881218 GRCh38 Chromosome 2, 144389597: 144389597
41 ZEB2 NM_014795.3(ZEB2): c.3195dupA (p.His1066Thrfs) duplication Pathogenic rs730881213 GRCh38 Chromosome 2, 144389901: 144389901
42 ZEB2 NM_014795.3(ZEB2): c.3073delA (p.Arg1025Aspfs) deletion Pathogenic rs730881217 GRCh38 Chromosome 2, 144390023: 144390023
43 ZEB2 NM_014795.3(ZEB2): c.3002delG (p.Cys1001Leufs) deletion Pathogenic rs730881212 GRCh38 Chromosome 2, 144396477: 144396477
44 ZEB2 NM_014795.3(ZEB2): c.2228_2229delCT (p.Ser743Tyrfs) deletion Pathogenic rs730881211 GRCh38 Chromosome 2, 144398958: 144398959
45 ZEB2 NM_014795.3(ZEB2): c.997delA (p.Lys333Asnfs) deletion Pathogenic rs730881208 GRCh38 Chromosome 2, 144400190: 144400190
46 ZEB2 NM_014795.3(ZEB2): c.178_190delACGAGTCCAGCTAinsGTT (p.Thr60Valfs) indel Pathogenic rs730881215 GRCh38 Chromosome 2, 144429910: 144429922
47 ZEB2 NM_014795.3(ZEB2): c.3068-?_(*5076_?)del deletion Pathogenic
48 ZEB2 NM_014795.3(ZEB2): c.404-?_(*5076_?)del deletion Pathogenic
49 ZEB2 NM_014795.3(ZEB2): c.3391_3400delCCGAGGGATG (p.Pro1131Alafs) deletion Pathogenic rs786204816 GRCh38 Chromosome 2, 144389696: 144389705
50 ZEB2 NM_014795.3(ZEB2): c.2687_2688dupCA (p.Ala897Glnfs) duplication Pathogenic rs786204804 GRCh38 Chromosome 2, 144398499: 144398500

Copy number variations for Mowat-Wilson Syndrome from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 149721 2 91200000 148400000 Copy number ZFHX1B Mowat-Wilson syndrome

Expression for Mowat-Wilson Syndrome

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

Pathways for Mowat-Wilson Syndrome

GO Terms for Mowat-Wilson Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 chromosome GO:0005694 8.8 KANSL1 MBD5 POGZ

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

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

Sources for Mowat-Wilson Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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