MCID: GLL047
MIFTS: 10

Galloway-Mowat Syndrome 8

Categories: Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Galloway-Mowat Syndrome 8

MalaCards integrated aliases for Galloway-Mowat Syndrome 8:

Name: Galloway-Mowat Syndrome 8 58 6
Gamos8 58

Classifications:



External Ids:

OMIM 58 618349

Summaries for Galloway-Mowat Syndrome 8

OMIM : 58 Galloway-Mowat syndrome-8 is an autosomal recessive disorder characterized by impaired psychomotor development, poor overall growth with microcephaly, and early-onset progressive nephrotic syndrome associated with focal segmental glomerulosclerosis on renal biopsy. Some patients may have seizures, and some may die in childhood (summary by Fujita et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (251300). (618349)

MalaCards based summary : Galloway-Mowat Syndrome 8, is also known as gamos8. An important gene associated with Galloway-Mowat Syndrome 8 is NUP133 (Nucleoporin 133).

Related Diseases for Galloway-Mowat Syndrome 8

Symptoms & Phenotypes for Galloway-Mowat Syndrome 8

Clinical features from OMIM:

618349

Drugs & Therapeutics for Galloway-Mowat Syndrome 8

Search Clinical Trials , NIH Clinical Center for Galloway-Mowat Syndrome 8

Genetic Tests for Galloway-Mowat Syndrome 8

Anatomical Context for Galloway-Mowat Syndrome 8

Publications for Galloway-Mowat Syndrome 8

Variations for Galloway-Mowat Syndrome 8

ClinVar genetic disease variations for Galloway-Mowat Syndrome 8:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NUP133 NM_018230.3(NUP133): c.3335-11T> A single nucleotide variant Pathogenic GRCh37 Chromosome 1, 229577798: 229577798
2 NUP133 NM_018230.3(NUP133): c.3335-11T> A single nucleotide variant Pathogenic GRCh38 Chromosome 1, 229442051: 229442051

Expression for Galloway-Mowat Syndrome 8

Search GEO for disease gene expression data for Galloway-Mowat Syndrome 8.

Pathways for Galloway-Mowat Syndrome 8

GO Terms for Galloway-Mowat Syndrome 8

Sources for Galloway-Mowat Syndrome 8

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