GAMOS6
MCID: GLL045
MIFTS: 18

Galloway-Mowat Syndrome 6 (GAMOS6)

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

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
onset in infancy or early childhood
renal impairment may be age-dependent or may not be present


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). Affiliated tissues include bone and eye.

Related Diseases for Galloway-Mowat Syndrome 6

Symptoms & Phenotypes for Galloway-Mowat Syndrome 6

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
microcephaly

Growth Height:
short stature

Head And Neck Mouth:
wide mouth
high-arched palate
downturned corners of the mouth

Skeletal Hands:
fifth finger clinodactyly

Neurologic Behavioral Psychiatric Manifestations:
stereotypic movements
sudden bursts of laughter

Growth Weight:
low weight

Growth Other:
poor overall growth

Head And Neck Face:
dysmorphic facial features, variable (in some patients)

Head And Neck Nose:
anteverted nares

Head And Neck Eyes:
periorbital fullness
epicanthal folds

Neurologic Central Nervous System:
sleep disturbances
learning disabilities
delayed walking
delayed development
cerebellar atrophy (in some patients)
more
Skeletal:
delayed bone age

Head And Neck Teeth:
small teeth

Endocrine Features:
hypothyroidism (in some patients)
growth hormone deficiency (in some patients)
hypogonadotropic hypogonadism, partial (in some patients)

Genitourinary Kidneys:
focal segmental glomerulosclerosis seen on renal biopsy
effacement of podocyte foot processes
nephrotic syndrome (in some patients)

Laboratory Abnormalities:
proteinuria (in some patients)
hypoalbuminemia (in some patients)

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

MalaCards organs/tissues related to Galloway-Mowat Syndrome 6:

42
Bone, Eye

Publications for Galloway-Mowat Syndrome 6

Articles related to Galloway-Mowat Syndrome 6:

# Title Authors Year
1
Mutations in WDR4 as a new cause of Galloway-Mowat syndrome. ( 30079490 )
2018
2
Further delineation of the phenotype caused by biallelic variants in the WDR4 gene. ( 28617965 )
2018
3
Speech and language delay in a patient with WDR4 mutations. ( 29597095 )
2018
4
Mutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfism. ( 26416026 )
2015

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
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31 HGMD
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33 HPO
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35 ICD10 via Orphanet
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45 MeSH
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50 NCI
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55 NINDS
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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