Details of Disease | DrugMAP

General Information of Disease (ID: DISS3UH3)

Disease Name	Van den Ende-Gupta syndrome
Synonyms	VAN DEN Ende-Gupta syndrome; Marden-Walker-like syndrome without psychomotor retardation; Marden Walker like syndrome; Van den Ende Gupta syndrome; blepharophimosis, arachnodactyly, and congenital contractures; Marden Walker like syndrome without psychomotor retardation; VDEGS; Marden-Walker-like syndrome; van den Ende-Gupta syndrome
Definition	Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.
Disease Hierarchy	DISMCQP6: Arthrogryposis multiplex congenita DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability DISS3UH3: Van den Ende-Gupta syndrome
Disease Identifiers	MONDO ID MONDO_0010959 MESH ID C535909 UMLS CUI C1833136 OMIM ID 600920 MedGen ID 322127 Orphanet ID 2460 SNOMED CT ID 719845008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CHST14	OT3FLH7U	Limited	Biomarker	[1]
SCARF2	OT0X0ZLC	Definitive	Autosomal recessive	[2]
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References

1	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.
2	Further delineation of the Van den Ende-Gupta syndrome. Am J Med Genet A. 2010 Dec;152A(12):3095-100. doi: 10.1002/ajmg.a.33725.