Details of Disease

General Information of Disease (ID: DIS37600)

• Disease Name: Malan overgrowth syndrome
• Synonyms: SOTOS2; Malan syndrome; Sotos syndrome 2; Sotos syndrome type 2
• Definition: A rare multisystemic genetic disorder characterized by a characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness.|This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'musculoskeletal system disorder' (MONDO:0002081) ontology branch (https://orcid.org/0000-0001-9310-0163)
• Disease Hierarchy:
  DIS7667R: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
  DISYKSRF: Genetic disease
  DISHK54G: Overgrowth syndrome
  DIS37600: Malan overgrowth syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0013885
  UMLS CUI: C3553660
  OMIM ID: 614753
  MedGen ID: 766574
  Orphanet ID: 420179
  SNOMED CT ID: 763795006

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
NFIX	OT1DPZAE	Definitive	Autosomal dominant	[1]

References

• [1] 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.