Galloway-Mowat Syndrome 4 (GAMOS4)

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Disease Ontology 12 DOID:0080246 OMIM® 57 617730 OMIM Phenotypic Series 57 PS251300

MeSH 44 D008831 D009404 D009422 MedGen 41 C4540270 CN570506 SNOMED-CT via HPO 68 111406002 128613002 16026008 162294008 194021007 197661001 22006008 221360009 224958001 229721007 237836003 246545002 246635007 249768009 258211005 271611007 275480001 278849000 29164008 29738008 313307000 397540003 397790002 418143002 433146000 4945003 52254009 52522001 62415009 69056000 78164000 7973008 82646005 84757009 91175000 more

UniProtKB/Swiss-Prot : ⁷² Galloway-Mowat syndrome 4: A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood.

MalaCards based summary : Galloway-Mowat Syndrome 4, is also known as gamos4. An important gene associated with Galloway-Mowat Syndrome 4 is TP53RK (TP53 Regulating Kinase). Affiliated tissues include kidney, and related phenotypes are spasticity and global developmental delay

Disease Ontology : ¹² A Galloway-Mowat syndrome that has material basis in homozygous or compound heterozygous mutation in the TP53RK gene on chromosome 20q13.

OMIM® : ⁵⁷ Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (251300). (617730) (Updated 05-Apr-2021)

Clinical features from OMIM®:

617730 (Updated 05-Apr-2021)

Search Clinical Trials , NIH Clinical Center for Galloway-Mowat Syndrome 4

Search GEO for disease gene expression data for Galloway-Mowat Syndrome 4.