TOR1AIP1-related nuclear envelopathy

MONDO:0100604

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.

1 clinical trial for this condition and its sub-types, 0 tagged with TOR1AIP1-related nuclear envelopathy itself.

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↑ Hereditary disease (18235)

Sub-types of TOR1AIP1-related nuclear envelopathy

TOR1AIP1-related myopathy 0 trials · 1 incl. sub-types
1 sub-type
- Autosomal recessive limb-girdle muscular dystrophy type 2Y 1 trial
TOR1AIP1-related multisystem disorder 0 trials

Including sub-types (1) Tagged with TOR1AIP1-related nuclear envelopathy (0)

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