chronic mucocutaneous candidiasis and connective tissue disease due to JNK1 haploinsufficiency
MONDO:0800142Mondo
Findings
No curated finding names chronic mucocutaneous candidiasis and connective tissue disease due to JNK1 haploinsufficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An immunodeficiency disease caused by a variation in MAPK8, the gene encoding c-Jun N-terminal kinase 1 (JNK1), that is characterized by chronic mucocutaneous candidiasis and a connective tissue disorder that clinically overlaps with Ehlers-Danlos syndrome (EDS).
Definition from the Mondo Disease Ontology (MONDO:0800142), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
Other names
1 name
Resolves to: chronic mucocutaneous candidiasis and connective tissue disease due to JNK1 haploinsufficiency
- Also called
- JNK1 haploinsufficiency (causing combination of chronic mucocutaneous candidiasis and connective tissue disease)