GAMOS7
MCID: GLL046
MIFTS: 25
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Galloway-Mowat Syndrome 7 (GAMOS7)
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Galloway-Mowat Syndrome 7:Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
variable severity progressive disorder not responsive to steroid treatment onset of renal disease in first decade most patients require renal transplantation no recurrence of nephrotic syndrome after transplantation HPO:31
galloway-mowat syndrome 7:
Inheritance autosomal recessive inheritance Onset and clinical course variable expressivity progressive Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Nephrological diseases Eye diseases |
UniProtKB/Swiss-Prot :
73
Galloway-Mowat syndrome 7: 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. GAMOS7 inheritance is autosomal recessive.
MalaCards based summary : Galloway-Mowat Syndrome 7, is also known as gamos7. An important gene associated with Galloway-Mowat Syndrome 7 is NUP107 (Nucleoporin 107). Affiliated tissues include eye, brain and kidney, and related phenotypes are abnormal facial shape and short stature OMIM : 56 Galloway-Mowat syndrome-7 (GAMOS7) is an autosomal recessive disorder characterized by developmental delay, microcephaly, and early-onset nephrotic syndrome (summary by Rosti et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (251300). (618348) |
Diseases in the Galloway-Mowat Syndrome family: |
Human phenotypes related to Galloway-Mowat Syndrome 7:31 (show all 31)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:618348 |
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Genetic tests related to Galloway-Mowat Syndrome 7:
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MalaCards organs/tissues related to Galloway-Mowat Syndrome 7:40
Eye,
Brain,
Kidney
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Articles related to Galloway-Mowat Syndrome 7:
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ClinVar genetic disease variations for Galloway-Mowat Syndrome 7:6
UniProtKB/Swiss-Prot genetic disease variations for Galloway-Mowat Syndrome 7:73
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Search
GEO
for disease gene expression data for Galloway-Mowat Syndrome 7.
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