Details of Disease

General Information of Disease (ID: DISXZO3H)

• Disease Name: Basal laminar drusen
• Synonyms: drusen, early adult-onset, grouped; drusen, cuticular; cuticular drusen; basal laminar drusen; drusen of Bruch membrane; early adult-onset grouped drusen
• Definition: A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has material basis in mutations in the CFH gene on chromosome 1q31.3.
• Disease Hierarchy:
  DISO0C4K: Retinal dystrophies primarily involving Bruch's membrane
  DIS04BI1: Retinal drusen
  DISXZO3H: Basal laminar drusen
• Disease Identifiers:
  MONDO ID: MONDO_0007472
  MESH ID: C563034
  UMLS CUI: C0730295
  OMIM ID: 126700
  MedGen ID: 152676
  SNOMED CT ID: 312926005

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CFH	TTUW6OP	Strong	Autosomal dominant	[1]
CFH	TTUW6OP	Strong	Genetic Variation	[2]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ARMS2	OTUXHJ9H	Limited	Genetic Variation	[3]
COL15A1	OTTFKK18	Limited	Genetic Variation	[2]
CFH	OTAGKQTJ	Strong	Autosomal dominant	[1]

References

• [1] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
• [2] Whole Exome Sequencing in Patients with the Cuticular Drusen Subtype of Age-Related Macular Degeneration.PLoS One. 2016 Mar 23;11(3):e0152047. doi: 10.1371/journal.pone.0152047. eCollection 2016.
• [3] Association analysis of genetic and environmental risk factors in the cuticular drusen subtype of age-related macular degeneration.Mol Vis. 2012;18:2271-8. Epub 2012 Aug 18.