GAMOS7
MCID: GLL046
MIFTS: 18

Galloway-Mowat Syndrome 7 (GAMOS7)

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

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
progressive disorder
not responsive to steroid treatment
onset of renal disease in first decade
most patients require renal transplantation
no recurrence of nephrotic syndrome after transplantation


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). Affiliated tissues include eye.

Related Diseases for Galloway-Mowat Syndrome 7

Symptoms & Phenotypes for Galloway-Mowat Syndrome 7

Symptoms via clinical synopsis from OMIM:

58
Chest External Features:
pectus excavatum

Head And Neck Face:
smooth philtrum
micrognathia
sloping forehead
bitemporal narrowing
dysmorphic facial features (in some patients)

Head And Neck Mouth:
cleft palate
cleft lip
high-arched palate

Skeletal Limbs:
cubitus valgus

Skeletal Spine:
kyphoscoliosis

Neurologic Central Nervous System:
developmental delay
learning disabilities
speech delay
impaired intellectual development (in some patients)

Cardiovascular Heart:
ventricular septal defect (1 patient)
dilated cardiomyopathy (1 patient)

Head And Neck Head:
microcephaly (-5 to -8 sd)

Skeletal Hands:
clinodactyly
arachnodactyly
bifid thumb

Laboratory Abnormalities:
proteinuria
hypercholesterolemia
decreased serum albumin

Muscle Soft Tissue:
edema

Genitourinary Kidneys:
nephrotic syndrome
focal segmental glomerulosclerosis
tubular atrophy
interstitial fibrosis
end-stage renal disease
more
Skeletal Feet:
hallux valgus

Growth Height:
short stature (in some patients)

Growth Other:
poor overall growth

Skeletal:
skeletal anomalies (in some patients)

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

MalaCards organs/tissues related to Galloway-Mowat Syndrome 7:

42
Eye

Publications for Galloway-Mowat Syndrome 7

Articles related to Galloway-Mowat Syndrome 7:

# Title Authors Year
1
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. ( 30179222 )
2018
2
Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome. ( 28280135 )
2017
3
Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management. ( 28117080 )
2017
4
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. ( 25558065 )
2015

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_020401.4(NUP107): c.303G> A (p.Met101Ile) single nucleotide variant Pathogenic rs730882216 GRCh38 Chromosome 12, 68690746: 68690746
2 NUP107 NM_020401.4(NUP107): c.303G> A (p.Met101Ile) single nucleotide variant 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

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
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
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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