Web22 de mar. de 2024 · Context: ROHHAD syndrome presents a significant resemblance to HIDEA syndrome. The latter is caused by biallelic loss-of-function variants in the P4HTM gene and encompasses hypotonia, intellectual disabilities, eye abnormalities, hypoventilation, and dysautonomia. We report the first patient identified with HIDEA … 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
Further delineation of HIDEA syndrome - Maddirevula - 2024
WebRahikkala et al. (2024) reported 7 patients from 4 unrelated families with HIDEA syndrome and reviewed the large Finnish family reported by Kaasinen et al. (2014). The families … WebHIDEA syndrome is caused by biallelic pathogenic variants in P4HTM. The phenotype is characterized by muscular and central hypotonia, hypoventilation including obstructive … flange hydrostatic test pressure
Biallelic loss-of-function P4HTM gene variants cause hypotonia
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 ), … Web29 de mar. de 2024 · KIF11 mutations are known to cause autosomal dominant microcephaly-lymphedema-chorioretinopathy dysplasia syndrome, associated or not with intellectual disability. We report a father and two ... WebBiallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome) Article Full-text available can rent assistance be backdated