Details of Disease

General Information of Disease (ID: DISUAMD9)

Disease Name Marden-Walker syndrome
Synonyms MARDEN-WALKER syndrome; MWKS; connective tissue disorder Marden Walker type; Mws; Marden-Walker syndrome; Marden Walker Syndrome
Definition
Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.
Disease Hierarchy
DISMCQP6: Arthrogryposis multiplex congenita
DIS10G4I: Ciliopathy
DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
DISUAMD9: Marden-Walker syndrome
Disease Identifiers
MONDO ID
MONDO_0009564
MESH ID
C535910
UMLS CUI
C0796033
OMIM ID
248700
MedGen ID
163206
Orphanet ID
2461
SNOMED CT ID
449824004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ZEB2 TTT2WK4 Strong Genetic Variation [1]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CHST14 OT3FLH7U Limited Biomarker [2]
GEMIN2 OT4L6TLL moderate Genetic Variation [3]
PIEZO2 OTQ7AT38 Moderate Autosomal recessive [4]
SCAF11 OTX59D0X moderate Genetic Variation [3]
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References

1 Fetal diagnosis of Mowat-Wilson syndrome by whole exome sequencing.Am J Med Genet A. 2019 Oct;179(10):2152-2157. doi: 10.1002/ajmg.a.61295. Epub 2019 Jul 19.
2 Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders.Am J Med Genet A. 2016 Sep;170(9):2310-21. doi: 10.1002/ajmg.a.37831. Epub 2016 Jul 4.
3 Clinical features and management issues in Mowat-Wilson syndrome.Am J Med Genet A. 2006 Dec 15;140(24):2730-41. doi: 10.1002/ajmg.a.31530.
4 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.