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

Molecular Interaction Atlas (MIA)
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]
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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.