GAMOS3
MCID: GLL040
MIFTS: 29

Galloway-Mowat Syndrome 3 (GAMOS3)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Galloway-Mowat Syndrome 3

MalaCards integrated aliases for Galloway-Mowat Syndrome 3:

Name: Galloway-Mowat Syndrome 3 57 12 72 29 6 15
Gamos3 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
most patients die in early childhood
onset at birth or in the first months of life
progressive renal failure in most patients


HPO:

31
galloway-mowat syndrome 3:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Galloway-Mowat Syndrome 3

UniProtKB/Swiss-Prot : 72 Galloway-Mowat syndrome 3: 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.

MalaCards based summary : Galloway-Mowat Syndrome 3, also known as gamos3, is related to galloway-mowat syndrome. An important gene associated with Galloway-Mowat Syndrome 3 is OSGEP (O-Sialoglycoprotein Endopeptidase). Affiliated tissues include eye and kidney, and related phenotypes are intellectual disability and spasticity

Disease Ontology : 12 A Galloway-Mowat syndrome that has material basis in homozygous or compound heterozygous mutation in the OSGEP gene on chromosome 14q11.

OMIM® : 57 Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (251300). (617729) (Updated 05-Apr-2021)

Related Diseases for Galloway-Mowat Syndrome 3

Diseases in the Galloway-Mowat Syndrome family:

Galloway-Mowat Syndrome 1 Galloway-Mowat Syndrome 3
Galloway-Mowat Syndrome 4 Galloway-Mowat Syndrome 5
Galloway-Mowat Syndrome 6 Galloway-Mowat Syndrome 7
Galloway-Mowat Syndrome 8 Galloway-Mowat Syndrome 2

Diseases related to Galloway-Mowat Syndrome 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 galloway-mowat syndrome 29.5 OSGEP LOC107372315

Symptoms & Phenotypes for Galloway-Mowat Syndrome 3

Human phenotypes related to Galloway-Mowat Syndrome 3:

31 (show all 43)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 spasticity 31 HP:0001257
3 failure to thrive 31 HP:0001508
4 high palate 31 HP:0000218
5 hypertension 31 HP:0000822
6 global developmental delay 31 HP:0001263
7 hypertelorism 31 HP:0000316
8 delayed speech and language development 31 HP:0000750
9 microcephaly 31 HP:0000252
10 visual impairment 31 HP:0000505
11 short stature 31 HP:0004322
12 proteinuria 31 HP:0000093
13 strabismus 31 HP:0000486
14 intrauterine growth retardation 31 HP:0001511
15 micrognathia 31 HP:0000347
16 low-set ears 31 HP:0000369
17 epicanthus 31 HP:0000286
18 nephrotic syndrome 31 HP:0000100
19 arachnodactyly 31 HP:0001166
20 downslanted palpebral fissures 31 HP:0000494
21 narrow mouth 31 HP:0000160
22 microphthalmia 31 HP:0000568
23 deeply set eye 31 HP:0000490
24 ventriculomegaly 31 HP:0002119
25 hip dislocation 31 HP:0002827
26 midface retrusion 31 HP:0011800
27 pachygyria 31 HP:0001302
28 hiatus hernia 31 HP:0002036
29 hypoalbuminemia 31 HP:0003073
30 sloping forehead 31 HP:0000340
31 oligohydramnios 31 HP:0001562
32 hypoplasia of the corpus callosum 31 HP:0002079
33 cerebellar atrophy 31 HP:0001272
34 cerebral atrophy 31 HP:0002059
35 generalized hypotonia 31 HP:0001290
36 edema 31 HP:0000969
37 camptodactyly 31 HP:0012385
38 stage 5 chronic kidney disease 31 HP:0003774
39 narrow forehead 31 HP:0000341
40 simplified gyral pattern 31 HP:0009879
41 seizure 31 HP:0001250
42 diffuse mesangial sclerosis 31 HP:0001967
43 glomerular sclerosis 31 HP:0000096

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
intellectual disability
seizures
spasticity
pachygyria
cerebellar atrophy
more
Cardiovascular Vascular:
hypertension

Head And Neck Head:
microcephaly

Laboratory Abnormalities:
proteinuria
hypoalbuminemia

Head And Neck Ears:
low-set ears
floppy ears
abnormal ears

Skeletal Hands:
arachnodactyly
camptodactyly

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

Head And Neck Mouth:
high-arched palate
small mouth

Growth Other:
failure to thrive
intrauterine growth retardation

Head And Neck Eyes:
hypertelorism
strabismus
microphthalmia
downslanting palpebral fissures
epicanthal folds
more
Growth Height:
short stature

Head And Neck Face:
micrognathia
sloping forehead
narrow forehead
small midface

Genitourinary Kidneys:
nephrotic syndrome
diffuse mesangial sclerosis
end-stage renal disease
focal segmental glomerulosclerosis seen on renal biopsy
foot process effacement
more
Skeletal Pelvis:
hip dislocation

Muscle Soft Tissue:
edema
hypotonia

Abdomen Gastrointestinal:
hiatal hernia

Clinical features from OMIM®:

617729 (Updated 05-Apr-2021)

Drugs & Therapeutics for Galloway-Mowat Syndrome 3

Search Clinical Trials , NIH Clinical Center for Galloway-Mowat Syndrome 3

Genetic Tests for Galloway-Mowat Syndrome 3

Genetic tests related to Galloway-Mowat Syndrome 3:

# Genetic test Affiliating Genes
1 Galloway-Mowat Syndrome 3 29 OSGEP

Anatomical Context for Galloway-Mowat Syndrome 3

MalaCards organs/tissues related to Galloway-Mowat Syndrome 3:

40
Eye, Kidney

Publications for Galloway-Mowat Syndrome 3

Articles related to Galloway-Mowat Syndrome 3:

# Title Authors PMID Year
1
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. 57 6
28805828 2017
2
tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy. 57 6
28272532 2017
3
Galloway-Mowat syndrome: prenatal ultrasound and perinatal magnetic resonance imaging findings. 6 57
21791310 2011
4
Anesthetic management of a patient with Galloway-Mowat syndrome. 57 6
17897280 2007
5
Perinatal imaging findings of Galloway-Mowat syndrome. 57 6
18019379 2007
6
Prenatal magnetic resonance imaging of Galloway-Mowat syndrome. 57 6
15966048 2005
7
Galloway-Mowat syndrome: a glomerular basement membrane disorder? 6 57
11519896 2001
8
Fetal phenotype of Galloway-Mowat syndrome 3 caused by a specific OSGEP variant. 61
31564459 2019

Variations for Galloway-Mowat Syndrome 3

ClinVar genetic disease variations for Galloway-Mowat Syndrome 3:

6 (show all 14)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 OSGEP , LOC107372315 NM_017807.4(OSGEP):c.328T>C (p.Cys110Arg) SNV Pathogenic 444887 rs140076803 GRCh37: 14:20920216-20920216
GRCh38: 14:20452057-20452057
2 OSGEP NM_017807.4(OSGEP):c.740G>A (p.Arg247Gln) SNV Pathogenic 444893 rs773173317 GRCh37: 14:20916116-20916116
GRCh38: 14:20447957-20447957
3 OSGEP NM_017807.4(OSGEP):c.530G>C (p.Gly177Ala) SNV Pathogenic 444888 rs778931753 GRCh37: 14:20917150-20917150
GRCh38: 14:20448991-20448991
4 OSGEP , LOC107372315 NM_017807.4(OSGEP):c.332T>C (p.Ile111Thr) SNV Pathogenic 444891 rs1443735811 GRCh37: 14:20920212-20920212
GRCh38: 14:20452053-20452053
5 OSGEP , LOC107372315 NM_017807.4(OSGEP):c.40A>T (p.Ile14Phe) SNV Pathogenic 444889 rs1555331969 GRCh37: 14:20922803-20922803
GRCh38: 14:20454644-20454644
6 OSGEP NM_017807.4(OSGEP):c.974G>A (p.Arg325Gln) SNV Pathogenic 444886 rs753237335 GRCh37: 14:20915433-20915433
GRCh38: 14:20447274-20447274
7 OSGEP NM_017807.4(OSGEP):c.838C>T (p.Arg280Cys) SNV Pathogenic 444892 rs374322839 GRCh37: 14:20915805-20915805
GRCh38: 14:20447646-20447646
8 OSGEP NM_017807.4(OSGEP):c.839G>A (p.Arg280His) SNV Pathogenic 444890 rs144732839 GRCh37: 14:20915804-20915804
GRCh38: 14:20447645-20447645
9 OSGEP , LOC107372315 NM_017807.4(OSGEP):c.157A>T (p.Ile53Phe) SNV Likely pathogenic 974487 GRCh37: 14:20920566-20920566
GRCh38: 14:20452407-20452407
10 OSGEP , LOC107372315 NM_017807.4(OSGEP):c.81C>G (p.Asn27Lys) SNV Likely pathogenic 974488 GRCh37: 14:20922762-20922762
GRCh38: 14:20454603-20454603
11 OSGEP , LOC107372315 NM_017807.4(OSGEP):c.317G>T (p.Gly106Val) SNV Uncertain significance 1033446 GRCh37: 14:20920227-20920227
GRCh38: 14:20452068-20452068
12 OSGEP NM_017807.4(OSGEP):c.841G>A (p.Gly281Arg) SNV Uncertain significance 1033447 GRCh37: 14:20915802-20915802
GRCh38: 14:20447643-20447643
13 OSGEP NM_017807.4(OSGEP):c.973C>T (p.Arg325Trp) SNV Uncertain significance 449687 rs761839638 GRCh37: 14:20915434-20915434
GRCh38: 14:20447275-20447275
14 OSGEP NM_017807.4(OSGEP):c.892A>T (p.Met298Leu) SNV Uncertain significance 599157 rs1566507605 GRCh37: 14:20915657-20915657
GRCh38: 14:20447498-20447498

UniProtKB/Swiss-Prot genetic disease variations for Galloway-Mowat Syndrome 3:

72 (show all 14)
# Symbol AA change Variation ID SNP ID
1 OSGEP p.Ile14Phe VAR_080357 rs155533196
2 OSGEP p.Lys78Glu VAR_080358 rs200347983
3 OSGEP p.Val107Met VAR_080359 rs140583554
4 OSGEP p.Cys110Arg VAR_080360 rs140076803
5 OSGEP p.Ile111Thr VAR_080361 rs144373581
6 OSGEP p.Ile139Thr VAR_080362 rs133426340
7 OSGEP p.Gly177Ala VAR_080363 rs778931753
8 OSGEP p.Lys198Arg VAR_080364
9 OSGEP p.Arg247Gln VAR_080365 rs773173317
10 OSGEP p.Arg280Cys VAR_080366 rs374322839
11 OSGEP p.Arg280His VAR_080367 rs144732839
12 OSGEP p.Arg280Leu VAR_080368 rs144732839
13 OSGEP p.Arg325Gln VAR_080369 rs753237335
14 OSGEP p.Arg325Trp VAR_080370 rs761839638

Expression for Galloway-Mowat Syndrome 3

Search GEO for disease gene expression data for Galloway-Mowat Syndrome 3.

Pathways for Galloway-Mowat Syndrome 3

GO Terms for Galloway-Mowat Syndrome 3

Sources for Galloway-Mowat Syndrome 3

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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