Galloway-Mowat Syndrome 4

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OMIM 57 617730 Disease Ontology 12 DOID:0080246

MedGen 42 C4540270 CN570506 MeSH 44 D008831 D009404 D009422

UniProtKB/Swiss-Prot : ⁷⁵ 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 eye, brain and skin.

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)

Clinical features from OMIM:

617730

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

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