| H01922 | |
| H番号 | H01922 |
| 名称 | 精神運動遅滞と特徴的顔貌を伴う小児筋緊張低下 |
| 概要 | Infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) is an autosomal-recessive syndrome characterized by subtle facial dysmorphism, variable degrees of hypotonia, speech impairment, chronic constipation, and intellectual disability. It is caused by mutations in the cation channel NALCN and UNC80. NALCN has a role in basal sodium ion leak conductance in neurons, essential for neuronal function. UNC80 bridges between UNC79 and NALCN. Recently, pathogenic biallelic variants in TBC1-domain-containing kinase (TBCK) were also identified. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (IHPRF1) NALCN [HSA:259232] [KO:K21863] (IHPRF2) UNC80 [HSA:285175] [KO:K24015] (IHPRF3) TBCK [HSA:93627] [KO:K17544] (IHPMR) CCDC174 [HSA:51244] [KO:K25178] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | IHPMR is an abbreviation for Infantile hypotonia with psychomotor retardation. |
| リンク | ICD-11: LD90.Y ICD-10: Q87.8 MeSH: D009123 OMIM: 615419 616801 616900 616816 |
| 文献 | PMID:24075186 (IHPRF1) 著者 Al-Sayed MD, Al-Zaidan H, Albakheet A, Hakami H, Kenana R, Al-Yafee Y, Al-Dosary M, Qari A, Al-Sheddi T, Al-Muheiza M, Al-Qubbaj W, Lakmache Y, Al-Hindi H, Ghaziuddin M, Colak D, Kaya N タイトル Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay. 雑誌 Am J Hum Genet 93:721-6 (2013) DOI:10.1016/j.ajhg.2013.08.001 PMID:26545877 (IHPRF2) 著者 Perez Y, Kadir R, Volodarsky M, Noyman I, Flusser H, Shorer Z, Gradstein L, Birnbaum RY, Birk OS タイトル UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN. 雑誌 J Med Genet 53:397-402 (2016) DOI:10.1136/jmedgenet-2015-103352 PMID:27040691 (IHPRF3) 著者 Bhoj EJ, Li D, Harr M, Edvardson S, Elpeleg O, Chisholm E, Juusola J, Douglas G, Guillen Sacoto MJ, Siquier-Pernet K, Saadi A, Bole-Feysot C, Nitschke P, Narravula A, Walke M, Horner MB, Day-Salvatore DL, Jayakar P, Vergano SA, Tarnopolsky MA, Hegde M, Colleaux L, Crino P, Hakonarson H タイトル Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia. 雑誌 Am J Hum Genet 98:782-8 (2016) DOI:10.1016/j.ajhg.2016.03.016 PMID:26358778 (IHPMR) 著者 Volodarsky M, Lichtig H, Leibson T, Sadaka Y, Kadir R, Perez Y, Liani-Leibson K, Gradstein L, Shaco-Levy R, Shorer Z, Frank D, Birk OS タイトル CDC174, a novel component of the exon junction complex whose mutation underlies a syndrome of hypotonia and psychomotor developmental delay. 雑誌 Hum Mol Genet 24:6485-91 (2015) DOI:10.1093/hmg/ddv357 |