| H01922 | |
| H number | H01922 |
| Name | Infantile hypotonia with psychomotor retardation and characteristic facies |
| Description | 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. |
| Category | Congenital malformation |
| Network | - |
| Gene | (IHPRF1) NALCN [HSA:259232] [KO:K21863] (IHPRF2) UNC80 [HSA:285175] [KO:K24015] (IHPRF3) TBCK [HSA:93627] [KO:K17544] (IHPMR) CCDC174 [HSA:51244] [KO:K25178] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | IHPMR is an abbreviation for Infantile hypotonia with psychomotor retardation. |
| Other DBs | ICD-11: LD90.Y ICD-10: Q87.8 MeSH: D009123 OMIM: 615419 616801 616900 616816 |
| Reference | PMID:24075186 (IHPRF1) AUTHORS 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 TITLE Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay. JOURNAL Am J Hum Genet 93:721-6 (2013) DOI:10.1016/j.ajhg.2013.08.001 PMID:26545877 (IHPRF2) AUTHORS Perez Y, Kadir R, Volodarsky M, Noyman I, Flusser H, Shorer Z, Gradstein L, Birnbaum RY, Birk OS TITLE 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. JOURNAL J Med Genet 53:397-402 (2016) DOI:10.1136/jmedgenet-2015-103352 PMID:27040691 (IHPRF3) AUTHORS 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 TITLE Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia. JOURNAL Am J Hum Genet 98:782-8 (2016) DOI:10.1016/j.ajhg.2016.03.016 PMID:26358778 (IHPMR) AUTHORS 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 TITLE CDC174, a novel component of the exon junction complex whose mutation underlies a syndrome of hypotonia and psychomotor developmental delay. JOURNAL Hum Mol Genet 24:6485-91 (2015) DOI:10.1093/hmg/ddv357 |