Details of Disease

General Information of Disease (ID: DISUOI38)

• Disease Name: Potocki-Lupski syndrome
• Synonyms: PTLS; Duplication 17p11.2 syndrome; chromosome 17P11.2 Duplication syndrome; Potocki-Lupski syndrome (dup(17)(p11.2p11.2)); Potocki-Lupski syndrome, Isolated cases; trisomy 17p11.2; 17p11.2 Duplication syndrome; 17p11.2 microduplication syndrome; Potocki-Lupski syndrome; chromosome 17p11.2 duplication syndrome
• Definition: 17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DISYKSRF: Genetic disease
  DISLH99V: Partial duplication of the short arm of chromosome 17
  DISUOI38: Potocki-Lupski syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0012574
  MESH ID: C538355
  UMLS CUI: C2931246
  OMIM ID: 610883
  MedGen ID: 444010
  Orphanet ID: 1713
  SNOMED CT ID: 734016004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RASD1	OT2BAJHK	Disputed	Biomarker	[1]
RAI1	OTKLQU00	Moderate	Autosomal dominant	[2]
FLCN	OTVM78XM	Strong	Biomarker	[3]
TCF20	OT8LQAOV	Strong	Genetic Variation	[4]

References

• [1] Circadian abnormalities in mouse models of Smith-Magenis syndrome: evidence for involvement of RAI1.Am J Med Genet A. 2013 Jul;161A(7):1561-8. doi: 10.1002/ajmg.a.35941. Epub 2013 May 23.
• [2] 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.
• [3] Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome.Am J Med Genet A. 2012 Jul;158A(7):1579-88. doi: 10.1002/ajmg.a.35399. Epub 2012 May 25.
• [4] De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.Genome Med. 2019 Feb 28;11(1):12. doi: 10.1186/s13073-019-0623-0.