WebLim AM, Tan PL, Visruthan NK, et al. HIDEA syndrome: A rare cause of congenital hypoventilation in a premature infant. Pediatr Pulmonol 2024; 57:1826. Hay E, Wilson LC, Hoskins B, et al. Biallelic P4HTM variants associated with HIDEA syndrome and mitochondrial respiratory chain complex I deficiency. Eur J Hum Genet 2024; 29:1536. HIDEA syndrome is a syndrome characterised by hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities. It is caused by the mutation of the P4HTM gene on chromosome 3. Ver mais This syndrome causes intellectual disability and affects the eyes, musculoskeletal system, and face. Eyes • Strabismus • Difficulty … Ver mais This condition is caused by mutations in the Prolyl 4-hydroxylase, transmembrane (P4HTM) gene. This gene is located on the short arm of chromosome 3 (3p21.3). The inheritance of … Ver mais The prevalence is not known but this is considered to be a rare disease. Only 12 patients have been reported to date. Ver mais The diagnosis may be suspected on clinical grounds. It is made by sequencing the P4HTM gene. Ver mais There is presently no curative treatment. Management is supportive. Ver mais This condition was first described in 2014. The causative mutation was discovered in 2024. Ver mais
HIDEA syndrome is caused by biallelic, pathogenic, rare or founder ...
WebBiallelic predicted truncating P4HTM variants were identified following trio whole-genome sequencing, consistent with a diagnosis of hypotonia, hypoventilation, intellectual … Web22 de mar. de 2024 · HIDEA syndrome presents similarities with ROHHAD, including hypoventilation, obesity, and dysautonomia. To date, only 14% of endocrinological … dave asprey biohacking conference 2022
Congenital central hypoventilation syndrome and other causes
Web1 de jan. de 2001 · A new syndrome with hypotonia, intellectual disability, and eye abnormalities (HIDEA) was previously described in a large consanguineous family. Linkage analysis identified the recessive disease locus, and genome sequencing yielded three candidate genes with potentially pathogenic biallelic variants: transketolase ( TKT ), … Web3 de abr. de 2024 · A new syndrome with hypotonia, intellectual disability, and eye abnormalities (HIDEA) was previously described in a large consanguineous family. Linkage analysis identified the recessive disease locus, and genome sequencing yielded three candidate genes with potentially pathogenic biallelic variants: transketolase ( TKT ), … Web20 de jul. de 2024 · European Journal of Human Genetics - Biallelic P4HTM variants associated with HIDEA syndrome and mitochondrial respiratory chain complex I … dave and ted dueling pianos