MCID: GLL045
MIFTS: 10

Galloway-Mowat Syndrome 6

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

Aliases & Classifications for Galloway-Mowat Syndrome 6

MalaCards integrated aliases for Galloway-Mowat Syndrome 6:

Name: Galloway-Mowat Syndrome 6 58 6
Gamos6 58

Classifications:



External Ids:

OMIM 58 618347

Summaries for Galloway-Mowat Syndrome 6

OMIM : 58 Galloway-Mowat syndrome is a phenotypically heterogeneous disorder characterized by neurodevelopmental defects combined with renal-glomerular disease manifest as nephrotic syndrome and proteinuria. Most patients with GAMOS6 also have growth deficiency with variable microcephaly, and the renal disease may be age-dependent. Additional variable endocrine abnormalities have also been reported (summary by Braun et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (251300). (618347)

MalaCards based summary : Galloway-Mowat Syndrome 6, is also known as gamos6. An important gene associated with Galloway-Mowat Syndrome 6 is WDR4 (WD Repeat Domain 4).

Related Diseases for Galloway-Mowat Syndrome 6

Symptoms & Phenotypes for Galloway-Mowat Syndrome 6

Clinical features from OMIM:

618347

Drugs & Therapeutics for Galloway-Mowat Syndrome 6

Search Clinical Trials , NIH Clinical Center for Galloway-Mowat Syndrome 6

Genetic Tests for Galloway-Mowat Syndrome 6

Anatomical Context for Galloway-Mowat Syndrome 6

Publications for Galloway-Mowat Syndrome 6

Variations for Galloway-Mowat Syndrome 6

ClinVar genetic disease variations for Galloway-Mowat Syndrome 6:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 WDR4 NM_033661.4(WDR4): c.940dup (p.Leu314Profs) duplication Pathogenic rs776760122 GRCh38 Chromosome 21, 42853604: 42853604
2 WDR4 NM_033661.4(WDR4): c.940dup (p.Leu314Profs) duplication Pathogenic rs776760122 GRCh37 Chromosome 21, 44273714: 44273714
3 WDR4 NM_033661.4(WDR4): c.491A> C (p.Asp164Ala) single nucleotide variant Pathogenic rs1555976610 GRCh38 Chromosome 21, 42862357: 42862357
4 WDR4 NM_033661.4(WDR4): c.491A> C (p.Asp164Ala) single nucleotide variant Pathogenic rs1555976610 GRCh37 Chromosome 21, 44282467: 44282467
5 WDR4 NM_033661.4(WDR4): c.509G> A (p.Arg170Gln) single nucleotide variant Pathogenic GRCh37 Chromosome 21, 44282449: 44282449
6 WDR4 NM_033661.4(WDR4): c.509G> A (p.Arg170Gln) single nucleotide variant Pathogenic GRCh38 Chromosome 21, 42862339: 42862339
7 WDR4 NM_033661.4(WDR4): c.911_927dup (p.Gln310Glyfs) duplication Pathogenic GRCh37 Chromosome 21, 44273727: 44273743
8 WDR4 NM_033661.4(WDR4): c.911_927dup (p.Gln310Glyfs) duplication Pathogenic GRCh38 Chromosome 21, 42853617: 42853633
9 WDR4 NM_018669.5(WDR4): c.454-2A> C single nucleotide variant Pathogenic GRCh38 Chromosome 21, 42862396: 42862396
10 WDR4 NM_018669.5(WDR4): c.454-2A> C single nucleotide variant Pathogenic GRCh37 Chromosome 21, 44282506: 44282506

Expression for Galloway-Mowat Syndrome 6

Search GEO for disease gene expression data for Galloway-Mowat Syndrome 6.

Pathways for Galloway-Mowat Syndrome 6

GO Terms for Galloway-Mowat Syndrome 6

Sources for Galloway-Mowat Syndrome 6

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