Details of Disease

General Information of Disease (ID: DISPG9AB)

• Disease Name: Dias-Logan syndrome
• Synonyms: BCL11A-related intellectual developmental disorder with persistence of fetal hemoglobin; intellectual developmental disorder with hereditary persistence of foetal Haemoglobin; intellectual developmental disorder with persistence of fetal HEMOGLOBIN; intellectual developmental disorder with persistence of fetal Hemoglobin; intellectual developmental disorder with persistence of foetal Haemoglobin; intellectual developmental disorder with persistence of foetal HEMOGLOBIN; BCL11A-related intellectual developmental disorder with persistence of foetal haemoglobin; intellectual developmental disorder with hereditary persistence of fetal Hemoglobin; Dias-Logan syndrome; DILOS; Dias-Logan syndrome; DILOS; BCL11A-related BAFopathy
• Definition: Any BAFopathy in which the cause of the disease is a mutation in the BCL11A gene.
• Disease Hierarchy:
  DISQTWXD: BAFopathy
  DISPG9AB: Dias-Logan syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0014914
  UMLS CUI: C4310833
  OMIM ID: 617101
  MedGen ID: 934800

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
BCL11A	TTR61MW	Strong	Genetic Variation	[1]
BCL11A	TTR61MW	Definitive	Autosomal dominant	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BCL11A	OTI6ZBP6	Definitive	Autosomal dominant	[2]

References

• [1] Functional characterization of TBR1 variants in neurodevelopmental disorder.Sci Rep. 2018 Sep 24;8(1):14279. doi: 10.1038/s41598-018-32053-6.
• [2] 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.