Details of Disease

General Information of Disease (ID: DISQ7BDK)

• Disease Name: Chromosome 15q24 deletion syndrome
• Synonyms: chromosome 15Q24 Duplication syndrome; Witteveen-Kolk syndrome; WITKOS; monosomy 15q24; chromosome 15q24 deletion syndrome; Del(15)(q24); 15q24 microdeletion syndrome; 15q24 recurrent microdeletion syndrome
• Definition: 15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.
• Disease Hierarchy:
  DIS1DD8C: Syndrome caused by partial chromosomal deletion
  DISYKSRF: Genetic disease
  DISYZQO7: Partial deletion of the long arm of chromosome 15
  DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
  DISQ7BDK: Chromosome 15q24 deletion syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0013256
  UMLS CUI: C3150674
  MedGen ID: 462024
  Orphanet ID: 94065

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SIN3A	OTM8OZWV	Strong	Autosomal dominant	[1]

References

• [1] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.