GAMOS4
MCID: GLL041
MIFTS: 22
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Galloway-Mowat Syndrome 4 (GAMOS4)
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Galloway-Mowat Syndrome 4:Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
onset in the first months of life death within the first years of life four patients from 3 unrelated consanguineous families have been reported (last curated october 2017) Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Eye diseases Neuronal diseases Nephrological diseases |
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, and related phenotypes are hypertelorism and seizures 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) |
Diseases in the Galloway-Mowat Syndrome family:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:617730Human phenotypes related to Galloway-Mowat Syndrome 4:32 (show all 13)
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MalaCards organs/tissues related to Galloway-Mowat Syndrome 4:41
Eye,
Brain,
Skin,
Kidney
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UniProtKB/Swiss-Prot genetic disease variations for Galloway-Mowat Syndrome 4:75
ClinVar genetic disease variations for Galloway-Mowat Syndrome 4:6
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Search
GEO
for disease gene expression data for Galloway-Mowat Syndrome 4.
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