TOR1AIP1-related nuclear envelopathy
MONDO:0100604Mondo
Findings
No curated finding names TOR1AIP1-related nuclear envelopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A hereditary disease that encompasses the spectrum of clinical phenotypes resulting from loss of function of the TOR1AIP1 gene, including TOR1AIP1-related myopathy and TOR1AIP1-related multisystem disorder. Variability in the specific clinical features resulting from variants disrupting the function the TOR1AIP1 gene is thought to depend on the differential effects of variants on TOR1AIP1 transcript isoforms, for which there is evidence for tissue-specific expression and function.
Definition from the Mondo Disease Ontology (MONDO:0100604), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
- Narrower terms (2)