ORPHA:2152
Mowat-Wilson syndrome
Synonyms: Hirschsprung disease-intellectual disability syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR) and variable congenital malformations.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mowat-Wilson syndrome | Hirschsprung disease-intellectual disability syndrome |
| fr | Syndrome de Mowat-Wilson | Syndrome de maladie de Hirschsprung-déficience intellectuelle |
| de | Mowat-Wilson-Syndrom | Hirschsprung-Krankheit-Intelligenzminderung-Syndrom |
| es | Síndrome de Mowat-Wilson | Síndrome de enfermedad de Hirschsprung-discapacidad intelectual |
| it | Sindrome di Mowat-Wilson | Malattia di Hirschsprung - disabilità cognitiva |
| nl | Syndroom van Mowat-Wilson | Ziekte van Hirschsprung - intellectuele achterstand-syndroom |
| pt | Síndrome Mowat-Wilson | Síndrome de Hirschsprung-perturbação do desenvolvimento intelectual |
| pl | Zespół Mowata i Wilsona | Choroba Hirschsprunga - niepełnosprawność intelektualna |
| cs | Mowatův-Wilsonové syndrom | Syndrom zahrnující Hirschsprungovu chorobu a mentální retardaci · Mowat-Wilsonové syndrom |
| uk | Синдром Мовата-Вілсона | Хвороба Гіршпрунга з інтелектуальною недостатністю |
| zh | Mowat-Wilson综合征 | 多毛症-智力障碍综合征 |
| tr | Mowat-Wilson sendromu | Hirschsprung hastalığı-zihinsel yetersizlik sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 235730 | E | validated | |
| ICD-10 | Q43.1 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0009341 | E | validated | |
| MeSH | C536990 | E | validated | |
| UMLS | C1856113 | E | validated | |
| GARD | 9673 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:166472Monogenic disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:557866Rare disorder with Hirschsprung disease as a major feature
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders
4
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| ZEB2 | ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutation | Disease-causing germline mutation(s) in | Assessed | HGNC:14881 | ENSG00000169554 | 605802 | 2q22.3 | zinc finger E-box binding homeobox 2 | 20301585[PMID] |
| ZEB2 | ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22 | Role in the phenotype of | Assessed | HGNC:14881 | ENSG00000169554 | 605802 | 2q22.3 | zinc finger E-box binding homeobox 2 | 20301585[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | 35646055[PMID]_ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 1.7 / 100 000 | Europe | Value and class | Validated | 21343952[PMID]_20301585[PMID]_ ISBN:470191414[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
140 annotations · validated 2021-04-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0001627 | Abnormal heart morphology | |
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0002251 | Aganglionic megacolon | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0002607 | Bowel incontinence | |
| HP:0010761 | Broad columella | |
| HP:0011229 | Broad eyebrow | |
| HP:0010055 | Broad hallux | |
| HP:0002136 | Broad-based gait | |
| HP:0012385 | Camptodactyly | |
| HP:0000028 | Cryptorchidism | |
| HP:0004325 | Decreased body weight | |
| HP:0000490 | Deeply set eye | |
| HP:0031936 | Delayed ability to walk | |
| HP:0010862 | Delayed fine motor development | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000437 | Depressed nasal tip | |
| HP:0010845 | EEG with generalized slow activity | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0001371 | Flexion contracture | |
| HP:0002857 | Genu valgum | |
| HP:0001510 | Growth delay | |
| HP:0001822 | Hallux valgus | |
| HP:0040082 | Happy demeanor | |
| HP:0011228 | Horizontal eyebrow | |
| HP:0000316 | Hypertelorism | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0000047 | Hypospadias | |
| HP:0007328 | Impaired pain sensation | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000276 | Long face | |
| HP:0010511 | Long toe | |
| HP:0009765 | Low hanging columella | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000252 | Microcephaly | |
| HP:0002011 | Morphological central nervous system abnormality | |
| HP:0002427 | Motor aphasia | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0000194 | Open mouth | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0000768 | Pectus carinatum | |
| HP:0000767 | Pectus excavatum | |
| HP:0001763 | Pes planus | |
| HP:0000307 | Pointed chin | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0005274 | Prominent nasal tip | |
| HP:0000403 | Recurrent otitis media | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
| HP:0002360 | Sleep abnormality | |
| HP:0000486 | Strabismus | |
| HP:0001159 | Syndactyly | |
| HP:0000506 | Telecanthus | |
| HP:0000179 | Thick lower lip vermilion | |
| HP:0009487 | Ulnar deviation of the hand | |
| HP:0009909 | Uplifted earlobe | |
| HP:0000020 | Urinary incontinence | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0006482 | Abnormal dental morphology | |
| HP:0025100 | Abnormal hippocampus morphology | |
| HP:0000478 | Abnormality of the eye | |
| HP:0000077 | Abnormality of the kidney | |
| HP:0001181 | Adducted thumb | |
| HP:0002335 | Agenesis of cerebellar vermis | |
| HP:0000739 | Anxiety | |
| HP:0001650 | Aortic valve stenosis | |
| HP:0001746 | Asplenia | |
| HP:0000483 | Astigmatism | |
| HP:0001251 | Ataxia | |
| HP:0007270 | Atypical absence seizure | |
| HP:0001492 | Axenfeld anomaly | |
| HP:0001647 | Bicuspid aortic valve | |
| HP:0003763 | Bruxism | |
| HP:0001848 | Calcaneovalgus deformity | |
| HP:0000518 | Cataract | |
| HP:0001320 | Cerebellar vermis hypoplasia | |
| HP:0001680 | Coarctation of aorta | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0002019 | Constipation | |
| HP:0004313 | Decreased circulating antibody level | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0000678 | Dental crowding | |
| HP:0025156 | Dependency on intravenous nutrition | |
| HP:0002376 | Developmental regression | |
| HP:0010850 | EEG with spike-wave complexes | |
| HP:0012081 | Enlarged cerebellum | |
| HP:0004387 | Enterocolitis | |
| HP:0032046 | Focal cortical dysplasia | |
| HP:0007042 | Focal white matter lesions | |
| HP:0007359 | Focal-onset seizure | |
| HP:0002579 | Gastrointestinal dysmotility | |
| HP:0000212 | Gingival overgrowth | |
| HP:0000126 | Hydronephrosis | |
| HP:0001252 | Hypotonia | |
| HP:0002540 | Inability to walk | |
| HP:0000612 | Iris coloboma | |
| HP:0007048 | Large basal ganglia | |
| HP:0000568 | Microphthalmia | |
| HP:0000003 | Multicystic kidney dysplasia | |
| HP:0000545 | Myopia | |
| HP:0000639 | Nystagmus | |
| HP:0000125 | Pelvic kidney | |
| HP:0007165 | Periventricular heterotopia | |
| HP:0002126 | Polymicrogyria | |
| HP:0001642 | Pulmonic stenosis | |
| HP:0002021 | Pyloric stenosis | |
| HP:0002719 | Recurrent infections | |
| HP:0012760 | Reduced social responsiveness | |
| HP:0000075 | Renal duplication | |
| HP:0000480 | Retinal coloboma | |
| HP:0001257 | Spasticity | |
| HP:0002133 | Status epilepticus | |
| HP:0001182 | Tapered finger | |
| HP:0001636 | Tetralogy of Fallot | |
| HP:0000692 | Tooth malposition | |
| HP:0002119 | Ventriculomegaly | |
| HP:0000076 | Vesicoureteral reflux | |
| HP:0002013 | Vomiting | |
| HP:0000687 | Widely spaced teeth | |
| Very rare (<4-1%) | ||
| HP:0011326 | Anterior plagiocephaly | |
| HP:0000048 | Bifid scrotum | |
| HP:0000193 | Bifid uvula | |
| HP:0000041 | Chordee | |
| HP:0410005 | Cleft hard palate | |
| HP:0000175 | Cleft palate | |
| HP:0002015 | Dysphagia | |
| HP:0000034 | Hydrocele testis | |
| HP:0000054 | Micropenis | |
| HP:0000876 | Oligomenorrhea | |
| HP:0004961 | Pulmonary artery sling | |
| HP:0002757 | Recurrent fractures | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0001153 | Septate vagina | |
| HP:0410031 | Submucous cleft of soft and hard palate | |
| HP:0002777 | Tracheal stenosis | |
| HP:0030264 | Webbed penis | |
Annotation source: 20301585[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2152
- This record as JSON: /data/d/2152.json