Details of Disease

General Information of Disease (ID: DISBT6UM)

• Disease Name: Seckel syndrome 10
• Synonyms: Seckel syndrome caused by mutation in NSMCE2; NSMCE2 Seckel syndrome; Seckel syndrome type 10; SCKL10; Seckel syndrome 10
• Definition: Any Seckel syndrome in which the cause of the disease is a mutation in the NSMCE2 gene.|This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'endocrine system disorder' (MONDO:0005151) ontology branch (https://orcid.org/0000-0001-9310-0163) and from the 'reproductive system disorder' (MONDO:0005039) ontology branch (https://orcid.org/0000-0001-9310-0163, https://orcid.org/0000-0002-2825-0621)
• Disease Hierarchy:
  DISZ93BO: Primordial dwarfism and slender bone disorder
  DISEVUBA: Seckel syndrome
  DISBT6UM: Seckel syndrome 10
• Disease Identifiers:
  MONDO ID: MONDO_0014991
  UMLS CUI: C4310647
  OMIM ID: 617253
  MedGen ID: 934614

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
NSMCE2	OTJXLDC9	Strong	Autosomal recessive	[1]

References

• [1] Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer. Genet Med. 2015 Feb;17(2):131-42. doi: 10.1038/gim.2014.89. Epub 2014 Jul 24.