GAMOS8
MCID: GLL047
MIFTS: 17

Galloway-Mowat Syndrome 8 (GAMOS8)

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

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or early childhood
death in childhood may occur without renal transplantation
one consanguineous japanese family has been reported (last curated march 2019)


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). Affiliated tissues include brain and eye.

Related Diseases for Galloway-Mowat Syndrome 8

Symptoms & Phenotypes for Galloway-Mowat Syndrome 8

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
global developmental delay
impaired intellectual development
cortical atrophy on brain imaging (patient a)
focal cortical dysplasia (patient a)
more
Laboratory Abnormalities:
proteinuria
hematuria
hypoalbuminemia
uremia

Genitourinary Kidneys:
nephrotic syndrome
focal segmental glomerulosclerosis
tubular atrophy
interstitial fibrosis
cystic dilatation
more
Muscle Soft Tissue:
hypotonia
edema secondary to renal dysfunction

Growth Other:
poor overall growth

Head And Neck Head:
microcephaly

Head And Neck Eyes:
strabismus

Head And Neck Face:
narrow forehead
dysmorphic facial features (in some patients)

Head And Neck Teeth:
enamel hypoplasia

Cardiovascular Vascular:
hypertension secondary to renal disease

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

MalaCards organs/tissues related to Galloway-Mowat Syndrome 8:

42
Brain, Eye

Publications for Galloway-Mowat Syndrome 8

Articles related to Galloway-Mowat Syndrome 8:

# Title Authors Year
1
Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome. ( 30427554 )
2018
2
Another autosomal recessive form of focal glomerulosclerosis with neurological findings. ( 11793129 )
2002

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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37 IUPHAR
38 KEGG
39 LifeMap
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
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55 NINDS
56 Novoseek
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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