MCID: GLL046
MIFTS: 10

Galloway-Mowat Syndrome 7

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

Aliases & Classifications for Galloway-Mowat Syndrome 7

MalaCards integrated aliases for Galloway-Mowat Syndrome 7:

Name: Galloway-Mowat Syndrome 7 58 6
Gamos7 58

Classifications:



External Ids:

OMIM 58 618348

Summaries for Galloway-Mowat Syndrome 7

OMIM : 58 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)

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).

Related Diseases for Galloway-Mowat Syndrome 7

Symptoms & Phenotypes for Galloway-Mowat Syndrome 7

Clinical features from OMIM:

618348

Drugs & Therapeutics for Galloway-Mowat Syndrome 7

Search Clinical Trials , NIH Clinical Center for Galloway-Mowat Syndrome 7

Genetic Tests for Galloway-Mowat Syndrome 7

Anatomical Context for Galloway-Mowat Syndrome 7

Publications for Galloway-Mowat Syndrome 7

Variations for Galloway-Mowat Syndrome 7

ClinVar genetic disease variations for Galloway-Mowat Syndrome 7:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NUP107 NM_020401.3(NUP107): c.303G> A (p.Met101Ile) single nucleotide variant Pathogenic/Likely pathogenic rs730882216 GRCh38 Chromosome 12, 68690746: 68690746
2 NUP107 NM_020401.3(NUP107): c.303G> A (p.Met101Ile) single nucleotide variant Pathogenic/Likely pathogenic rs730882216 GRCh37 Chromosome 12, 69084526: 69084526
3 NUP107 NM_020401.4(NUP107): c.1325G> A (p.Cys442Tyr) single nucleotide variant Pathogenic GRCh37 Chromosome 12, 69115634: 69115634
4 NUP107 NM_020401.4(NUP107): c.1325G> A (p.Cys442Tyr) single nucleotide variant Pathogenic GRCh38 Chromosome 12, 68721854: 68721854

Expression for Galloway-Mowat Syndrome 7

Search GEO for disease gene expression data for Galloway-Mowat Syndrome 7.

Pathways for Galloway-Mowat Syndrome 7

GO Terms for Galloway-Mowat Syndrome 7

Sources for Galloway-Mowat Syndrome 7

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