Details of Disease

General Information of Disease (ID: DISPIV05)

• Disease Name: Intellectual disability, autosomal dominant 1
• Synonyms: chromosome 2Q23.1 deletion syndrome; autosomal dominant non-syndromic intellectual disability 1; mental retardation, autosomal dominant 1; autosomal dominant mental retardation 1; MBD5 autosomal dominant non-syndromic intellectual disability; autosomal dominant non-syndromic intellectual disability caused by mutation in MBD5; intellectual disability, autosomal dominant 1; mental retardation, autosomal dominant type 1; autosomal dominant intellectual disability 1; MRD1; intellectual disability, autosomal dominant type 1
• Definition: An autosomal dominant condition caused by mutation(s) in the MBD5 gene, encoding methyl-CpG-binding domain protein 5. It is characterized by severe developmental and cognitive delay, short stature, craniofacial dysmorphism, and seizures.
• Disease Hierarchy:
  DIS1I87P: Intellectual disability, autosomal dominant
  DISPIV05: Intellectual disability, autosomal dominant 1
• Disease Identifiers:
  MONDO ID: MONDO_0007974
  MESH ID: C566947
  UMLS CUI: C1969562
  OMIM ID: 156200
  MedGen ID: 409857

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RBM19	OT3Q6UIM	Disputed	Biomarker	[1]
MBD5	OTFHT4MO	Strong	Autosomal dominant	[2]

References

• [1] Major impact of an early bone marrow checkpoint (day 21) for minimal residual disease in flow cytometry in childhood acute lymphoblastic leukemia.Hematol Oncol. 2017 Jun;35(2):237-243. doi: 10.1002/hon.2263. Epub 2015 Oct 9.
• [2] Extended spectrum of MBD5 mutations in neurodevelopmental disorders. Eur J Hum Genet. 2013 Dec;21(12):1457-61. doi: 10.1038/ejhg.2013.22. Epub 2013 Feb 20.