GAMOS7
MCID: GLL046
MIFTS: 25

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 56 73 29 6
Gamos7 56 73

Characteristics:

OMIM:

56
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


HPO:

31
galloway-mowat syndrome 7:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity progressive


Classifications:



Summaries for Galloway-Mowat Syndrome 7

UniProtKB/Swiss-Prot : 73 Galloway-Mowat syndrome 7: 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. GAMOS7 inheritance is autosomal recessive.

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, brain and kidney, and related phenotypes are abnormal facial shape and short stature

OMIM : 56 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)

Related Diseases for Galloway-Mowat Syndrome 7

Symptoms & Phenotypes for Galloway-Mowat Syndrome 7

Human phenotypes related to Galloway-Mowat Syndrome 7:

31 (show all 31)
# Description HPO Frequency HPO Source Accession
1 abnormal facial shape 31 very rare (1%) HP:0001999
2 short stature 31 very rare (1%) HP:0004322
3 dilated cardiomyopathy 31 very rare (1%) HP:0001644
4 ventricular septal defect 31 very rare (1%) HP:0001629
5 iga deposition in the glomerulus 31 very rare (1%) HP:0000794
6 global developmental delay 31 HP:0001263
7 delayed speech and language development 31 HP:0000750
8 microcephaly 31 HP:0000252
9 smooth philtrum 31 HP:0000319
10 proteinuria 31 HP:0000093
11 edema 31 HP:0000969
12 cleft palate 31 HP:0000175
13 cubitus valgus 31 HP:0002967
14 high palate 31 HP:0000218
15 micrognathia 31 HP:0000347
16 pectus excavatum 31 HP:0000767
17 kyphoscoliosis 31 HP:0002751
18 nephrotic syndrome 31 HP:0000100
19 arachnodactyly 31 HP:0001166
20 hypercholesterolemia 31 HP:0003124
21 hallux valgus 31 HP:0001822
22 partial duplication of thumb phalanx 31 HP:0009944
23 sloping forehead 31 HP:0000340
24 clinodactyly 31 HP:0030084
25 stage 5 chronic kidney disease 31 HP:0003774
26 narrow forehead 31 HP:0000341
27 renal tubular atrophy 31 HP:0000092
28 focal segmental glomerulosclerosis 31 HP:0000097
29 cleft lip 31 HP:0410030
30 diffuse mesangial sclerosis 31 HP:0001967
31 minimal change glomerulonephritis 31 HP:0012579

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Face:
smooth philtrum
micrognathia
sloping forehead
bitemporal narrowing
dysmorphic facial features (in some patients)

Muscle Soft Tissue:
edema

Skeletal Limbs:
cubitus valgus

Skeletal Spine:
kyphoscoliosis

Skeletal Hands:
arachnodactyly
clinodactyly
bifid thumb

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

Growth Other:
poor overall growth

Skeletal:
skeletal anomalies (in some patients)

Laboratory Abnormalities:
proteinuria
hypercholesterolemia
decreased serum albumin

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

Chest External Features:
pectus excavatum

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

Growth Height:
short stature (in some patients)

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

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

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

Genetic tests related to Galloway-Mowat Syndrome 7:

# Genetic test Affiliating Genes
1 Galloway-Mowat Syndrome 7 29

Anatomical Context for Galloway-Mowat Syndrome 7

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

40
Eye, Brain, Kidney

Publications for Galloway-Mowat Syndrome 7

Articles related to Galloway-Mowat Syndrome 7:

# Title Authors PMID Year
1
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. 6 56
30179222 2018
2
Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome. 56 6
28280135 2017
3
Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management. 6 56
28117080 2017
4
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 56 6
25558065 2015

Variations for Galloway-Mowat Syndrome 7

ClinVar genetic disease variations for Galloway-Mowat Syndrome 7:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NUP107 NM_020401.4(NUP107):c.1325G>A (p.Cys442Tyr)SNV Pathogenic 619945 rs745342141 12:69115634-69115634 12:68721854-68721854
2 NUP107 NM_020401.4(NUP107):c.303G>A (p.Met101Ile)SNV Pathogenic 183304 rs730882216 12:69084526-69084526 12:68690746-68690746

UniProtKB/Swiss-Prot genetic disease variations for Galloway-Mowat Syndrome 7:

73
# Symbol AA change Variation ID SNP ID
1 NUP107 p.Met101Ile VAR_081356 rs730882216

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
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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