| 词条 | HIDEA syndrome |
| 释义 |
| name = HIDEA syndrome | synonyms = | image = Autosomal recessive - en.svg | caption = HIDEA syndrome is inherited via an autosomal recessive manner | pronounce = | field = | symptoms = | complications = | onset = | duration = | types = | causes = Mutation in P4HTM gene | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }}HIDEA syndrome is a syndrome characterised by hypotonia, intellectual disability and eye abnormalities.[1] GeneticsThis condition is caused by mutations in the Prolyl 4-hydroxylase, transmembrane (P4HTM) gene. This gene is located on the short arm arm of chromosome 3 (3p21.3). The inheritance of this condition is autosomal recessive. EpidemiologyThe prevalence is not known but this is considered to be a rare disease. Only 12 patients have been reported to date. Clinical featuresThis syndrome main causes intellectual disability and affects the eyes, musculoskeletal system and face. Eyes
Facial features gradually become coarser during childhood Musculoskeletal system
Other associated features include hypoventilation, obstructive and central sleep apnea and dysautonomia. DiagnosisThe diagnosis may be suspected on clinical grounds. It is made by sequencing the P4HTM gene. ManagementThere is presently no curative treatment. Management is supportive. HistoryThis condition was first described in 2014.[2] The causative mutation was discovered in 2019.[3] References1. ^Kaasinen E, Rahikkala E, Koivunen P, Miettinen S, Wamelink MM, Aavikko M, Palin K, Myllyharju J, Moilanen JS, Pajunen L, Karhu A, Aaltonen LA (2019) Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome. Eur J Med Genet 57(10):543-551 {{Medical resources2. ^Kaasinen E, Rahikkala E, Koivunen P, Miettinen S, Wamelink MM, Aavikko M, Palin K, Myllyharju J, Moilanen JS, Pajunen L, Karhu A, Aaltonen LA (2019) Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome. Eur J Med Genet 57(10):543-551 3. ^Rahikkala E, Myllykoski M, Hinttala R, Vieira P, Nayebzadeh N, Weiss S, Plomp A, Bittner RE, Kurki MI, Kuismin O, Lewis AM, Väisänen ML, Kokkonen H, Westermann J, Bernert G, Tuominen H, Palotie A, Aaltonen L, Yang Y, Potocki L, Moilanen J, van Koningsbruggen S, Wang X, Schmidt WM, Koivunen P, Uusimaa J (2019) Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome). Genet Med | ICD10 = | ICD9 = | ICDO = | OMIM = | DiseasesDB = | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeSH = | GeneReviewsNBK = | GeneReviewsName = | Orphanet = }}{{Medicine|state=collapsed}}{{Medical resources | DiseasesDB = | ICD10 = | ICD9 = | ICDO = | OMIM = | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = | Orphanet = }} 2 : Genetic diseases and disorders|Rare syndromes |
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