Details of Disease

General Information of Disease (ID: DIS7H2M2)

• Disease Name: Dyskeratosis congenita, autosomal recessive 5
• Synonyms: dyskeratosis congenita, autosomal dominant 4; autosomal recessive dyskeratosis congenita 5; DKCB5; dyskeratosis congenita, autosomal recessive 5; dyskeratosis congenita, autosomal recessive type 5
• Definition: A dyskeratosis congenita that has material basis in an autosomal dominant mutation of RTEL1 on chromosome 20q13.33.
• Disease Hierarchy:
  DIS3OX2G: Dyskeratosis congenita and related telomere biology disorder
  DISCPWH9: Autosomal recessive disease
  DISSXV0K: Dyskeratosis congenita
  DIS7H2M2: Dyskeratosis congenita, autosomal recessive 5
• Disease Identifiers:
  MONDO ID: MONDO_0014076
  UMLS CUI: C3554656
  OMIM ID: 615190
  MedGen ID: 767570

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
RBM8A	OT5SR6G0	Limited	Biomarker	[1]
RTEL1	OTI3PJCT	Definitive	Autosomal recessive	[2]

References

• [1] Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet. 2007 Feb;80(2):232-40. doi: 10.1086/510919. Epub 2006 Dec 21.
• [2] Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. Am J Hum Genet. 2013 Mar 7;92(3):448-53. doi: 10.1016/j.ajhg.2013.02.001. Epub 2013 Feb 28.