Details of Disease | DrugMAP

General Information of Disease (ID: DISD1AW7)

Disease Name	Mowat-Wilson syndrome
Synonyms	microcephaly, mental retardation, and distinct Facial features, with or without Hirschsprung disease; mental retardation, microcephaly, and distinct facial features with or without Hirschsprung disease; MOWS; Hirschsprung disease-mental retardation syndrome; intellectual disability, microcephaly, and distinct facial features with or without Hirschsprung disease; microcephaly, intellectual disability, and distinct Facial features, with or without Hirschsprung disease; microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease; Hirschsprung disease mental retardation syndrome; microcephaly, intellectual disability, and distinct facial featrues, with or without Hirschprung disease; Hirschsprung disease-intellectual disability syndrome; Hirschsprung disease intellectual disability syndrome; Mowat-Wilson syndrome
Definition	Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR) and variable congenital malformations.
Disease Hierarchy	DIS2BIP8: Congenital nervous system disorder DISH7SDF: Syndromic intellectual disability DISD715V: Hereditary neurological disease DIS80GDF: Monogenic epilepsy DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISD1AW7: Mowat-Wilson syndrome
Disease Identifiers	MONDO ID MONDO_0009341 MESH ID C536990 UMLS CUI C1856113 OMIM ID 235730 MedGen ID 341067 Orphanet ID 2152 SNOMED CT ID 703535000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ZEB2	OTMYQ3CM	Definitive	Autosomal dominant	[1]
HOXA6	OTHJP8M2	Strong	Genetic Variation	[3]
PHOX2B	OT3SFR2O	Strong	Genetic Variation	[4]
POGZ	OT4CYWC1	Strong	Altered Expression	[5]
GEMIN2	OT4L6TLL	Definitive	Genetic Variation	[2]
SCAF11	OTX59D0X	Definitive	Genetic Variation	[2]
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⏷ Show the Full List of 6 DOT(s)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ZEB2	TTT2WK4	Definitive	Autosomal dominant	[1]
ZEB2	TTT2WK4	Definitive	Genetic Variation	[2]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
2	Role of Zeb2/Sip1 in neuronal development.Brain Res. 2019 Feb 15;1705:24-31. doi: 10.1016/j.brainres.2018.09.034. Epub 2018 Sep 25.
3	Frameshift mutation of the zinc finger homeo box 1 B gene in syndromic corpus callosum agenesis (Mowat-Wilson syndrome).Neuropediatrics. 2003 Dec;34(6):322-5. doi: 10.1055/s-2003-44671.
4	Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus.J Med Genet. 2006 May;43(5):419-23. doi: 10.1136/jmg.2005.040113. Epub 2006 Jan 27.
5	Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.Genome Med. 2016 Nov 1;8(1):105. doi: 10.1186/s13073-016-0359-z.