Details of Disease | DrugMAP

General Information of Disease (ID: DISFWWGF)

Disease Name	Elsahy-Waters syndrome
Synonyms	branchio-skeleto-genital syndrome; ESWS; hypospadias-hypertelorism-coloboma and deafness syndrome; hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss; hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss; ELSAHY-Waters syndrome; brachioskeletogenital syndrome; BSG syndrome; Elsahy-Waters syndrome
Definition	An extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971.
Disease Hierarchy	DIS6SVEE: Syndromic disease DISYKSRF: Genetic disease DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISFWWGF: Elsahy-Waters syndrome
Disease Identifiers	MONDO ID MONDO_0008885 MESH ID C537084 UMLS CUI C0809936 OMIM ID 211380 MedGen ID 923028 SNOMED CT ID 719097002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CDH11	TTRGWZC	Strong	Biomarker	[1]
CDH11	TTRGWZC	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CDH11	OTIZKPTF	Definitive	Autosomal recessive	[2]
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References

1	Elsahy-Waters syndrome is caused by biallelic mutations in CDH11.Am J Med Genet A. 2018 Feb;176(2):477-482. doi: 10.1002/ajmg.a.38568. Epub 2017 Dec 22.
2	Detailed clinical and radiological features of the first patient with Elsahy-Waters syndrome in East Asia. Am J Med Genet A. 2021 Dec;185(12):3909-3915. doi: 10.1002/ajmg.a.62423. Epub 2021 Jul 19.