Fanconi anemia complementation group E

Definition

Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.

Also known as FACE, FANCE, FANCE Fanconi anaemia, FANCE Fanconi anemia, Fanconi anaemia caused by mutation in FANCE, Fanconi anaemia complementation group type E, Fanconi anemia caused by mutation in FANCE, Fanconi anemia complementation group E, Fanconi anemia complementation group type E, Fanconi Anemia, complementation group type E — per MONDO

Also identified as

• DOID 0111084 per MONDO
• NCIT C125709 per MONDO
• OMIM 600901 per MONDO
• UMLS C3160739 per MONDO

Affected Organs