Details of Disease

General Information of Disease (ID: DISFVMRA)

• Disease Name: Koolen-de Vries syndrome
• Synonyms: KDVS; microdeletion 17Q21.31 syndrome; chromosome 17Q21.31 deletion syndrome; 17q21.31 deletion syndrome; Koolen-DE Vries syndrome; chromosome 17q21.31 microdeletion syndrome; Koolen-De Vries syndrome; KANSL1-related intellectual disability syndrome; chromosome 17q21.31 deletion syndrome; KdVS; Koolen de Vries syndrome; microdeletion 17q21.31 syndrome
• Definition: A chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior.|Editor note: DOID classifies as non-syndromic but we classify as syndromic
• Disease Hierarchy:
  DISYKSRF: Genetic disease
  DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
  DISFVMRA: Koolen-de Vries syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0012496
  MESH ID: C566476
  UMLS CUI: C1864871
  OMIM ID: 610443
  MedGen ID: 355853
  Orphanet ID: 96169
  SNOMED CT ID: 717338006

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
USH2A	TTVCLLA	Strong	Genetic Variation	[1]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KANSL1	OTYNSNNZ	Definitive	Autosomal dominant	[2]

References

• [1] Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.Sci Rep. 2018 Mar 27;8(1):5285. doi: 10.1038/s41598-018-23520-1.
• [2] 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.