Details of Disease

General Information of Disease (ID: DISCF43Z)

• Disease Name: AP-4 deficiency syndrome
• Synonyms: AP-4 deficiency syndrome
• Definition: A genetic disorder associated with variation(s) in the AP4 genes: AP4B1, AP4E1, AP4M1, and AP4S1. The phenotypes observed in individuals with genetic variants in these genes are often complex and include intellectual disability, spastic paraplegia, microcephaly, brain abnormalities, and seizures.
• Disease Hierarchy:
  DISYKSRF: Genetic disease
  DISCF43Z: AP-4 deficiency syndrome

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AP4B1	OTGJUIRA	Definitive	Autosomal recessive	[1]
AP4E1	OT4DUNVU	Definitive	Autosomal recessive	[1]
AP4M1	OT2BG2Z3	Definitive	Autosomal recessive	[1]
AP4S1	OTM3QBU8	Definitive	Autosomal recessive	[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.