Details of Disease

General Information of Disease (ID: DIS81XMM)

• Disease Name: ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
• Synonyms: intellectual disability, autosomal dominant 28; Helsmoortel-VAN DER AA syndrome; ADNP syndrome; mental retardation, autosomal dominant 28; ADNP Syndrome; autosomal dominant intellectual disability 28; MRD28; HVDAS; ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder; autosomal dominant mental retardation 28
• Definition: An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13.
• Disease Hierarchy:
  DIS2BIP8: Congenital nervous system disorder
  DISH7SDF: Syndromic intellectual disability
  DIS1I87P: Intellectual disability, autosomal dominant
  DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
  DIS81XMM: ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
• Disease Identifiers:
  MONDO ID: MONDO_0014379
  UMLS CUI: C4014538
  OMIM ID: 615873
  MedGen ID: 862975
  Orphanet ID: 404448
  SNOMED CT ID: 766824003

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
ADNP	OTEGICWR	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.