This report describes Yunis-Varon syndrome (YVS), which one of several diseases associated with the human gene FIG4. See the human disease model report for neurodegenerative disease, FIG4-related (FBhh0000336).
[updated June 2016 by FlyBase; FBrf0222196]
[YUNIS-VARON SYNDROME; YVS](https://omim.org/entry/216340)
[FIG4 PHOSPHOINOSITIDE 5-PHOSPHATASE; FIG4](https://omim.org/entry/609390)
Yunis-Varon syndrome is a severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy (summary by Campeau et al., 2013; pubmed:23623387). [from MIM:216340]
Yunis-Varon syndrome is caused by homozygous or compound heterozygous mutations in the FIG4 gene. [from MIM:216340; 2016.06.27]
FIG4 Phosphoinositide 5-Phosphatase (FIG4) encodes a protein in the SAC domain-containing protein family; the SAC domain incorporates the phosphoinositide phosphatase activity. Membrane-bound phosphoinositides function as signaling molecules and play a key role in vesicle trafficking in eukaryotic cells. [from Gene Cards, FIG4; 2016.06.22]
One to one: 1 human to 1 Drosophila.
