GAMOS8
MCID: GLL047
MIFTS: 23

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 57 72 29 6
Gamos8 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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)


HPO:

31
galloway-mowat syndrome 8:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Galloway-Mowat Syndrome 8

UniProtKB/Swiss-Prot : 72 Galloway-Mowat syndrome 8: A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. GAMOS8 inheritance is autosomal recessive.

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 eye, cerebellum and brain, and related phenotypes are abnormal facial shape and global developmental delay

OMIM® : 57 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) (Updated 20-May-2021)

Related Diseases for Galloway-Mowat Syndrome 8

Symptoms & Phenotypes for Galloway-Mowat Syndrome 8

Human phenotypes related to Galloway-Mowat Syndrome 8:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 abnormal facial shape 31 very rare (1%) HP:0001999
2 global developmental delay 31 HP:0001263
3 microcephaly 31 HP:0000252
4 proteinuria 31 HP:0000093
5 strabismus 31 HP:0000486
6 nephrotic syndrome 31 HP:0000100
7 hematuria 31 HP:0000790
8 abnormal cerebellum morphology 31 HP:0001317
9 hypoalbuminemia 31 HP:0003073
10 generalized hypotonia 31 HP:0001290
11 hypoplasia of dental enamel 31 HP:0006297
12 narrow forehead 31 HP:0000341
13 renal tubular atrophy 31 HP:0000092
14 focal segmental glomerulosclerosis 31 HP:0000097
15 focal cortical dysplasia 31 HP:0032046
16 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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
interstitial fibrosis
tubular atrophy
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 (Updated 20-May-2021)

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

Genetic tests related to Galloway-Mowat Syndrome 8:

# Genetic test Affiliating Genes
1 Galloway-Mowat Syndrome 8 29 NUP133

Anatomical Context for Galloway-Mowat Syndrome 8

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

40
Eye, Cerebellum, Brain

Publications for Galloway-Mowat Syndrome 8

Articles related to Galloway-Mowat Syndrome 8:

# Title Authors PMID Year
1
Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome. 57 6
30427554 2018
2
Another autosomal recessive form of focal glomerulosclerosis with neurological findings. 57 6
11793129 2002

Variations for Galloway-Mowat Syndrome 8

ClinVar genetic disease variations for Galloway-Mowat Syndrome 8:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NUP133 NM_018230.3(NUP133):c.3335-11T>A SNV Pathogenic 619944 rs1433513056 GRCh37: 1:229577798-229577798
GRCh38: 1:229442051-229442051
2 NUP133 NM_018230.3(NUP133):c.2992dup (p.Gln998fs) Duplication Likely pathogenic 996957 GRCh37: 1:229588378-229588379
GRCh38: 1:229452631-229452632

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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