Details of Disease

General Information of Disease (ID: DISO6W6V)

• Disease Name: Reticular dysgenesis
• Synonyms: haematopoietic hypoplasia, generalised; DeVaal disease; reticular Dysgenesia; RD; congenital Aleukia; aleukocytosis; hematopoietic hypoplasia, generalized; congenital aleukocytosis; SCID with leukopenia; generalised haematopoietic hypoplasia; AK2 deficiency; severe combined immunodeficiency with leukopenia; De Vaal disease; reticular dysgenesis; generalized hematopoietic hypoplasia
• Definition: Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated.
• Disease Hierarchy:
  DIS8RTG7: Familial severe combined immunodeficiency
  DIS225UQ: T-B- severe combined immunodeficiency
  DISO6W6V: Reticular dysgenesis
• Disease Identifiers:
  MONDO ID: MONDO_0009973
  MESH ID: C538361
  UMLS CUI: C0272167
  OMIM ID: 242880
  MedGen ID: 124417
  Orphanet ID: 33355
  SNOMED CT ID: 111584000

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
AK2	DEY1FJO	Limited	Biomarker	[1]
AK2	DEY1FJO	Definitive	Autosomal recessive	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AK2	OTZG3X2H	Definitive	Autosomal recessive	[2]

References

• [1] Reticular Dysgenesis and Mitochondriopathy Induced by Adenylate Kinase 2 Deficiency with Atypical Presentation.Sci Rep. 2019 Oct 31;9(1):15739. doi: 10.1038/s41598-019-51922-2.
• [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.