MCID: GLL040
MIFTS: 19

Galloway-Mowat Syndrome 3

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

Aliases & Classifications for Galloway-Mowat Syndrome 3

MalaCards integrated aliases for Galloway-Mowat Syndrome 3:

Name: Galloway-Mowat Syndrome 3 57 12 75 6
Gamos3 57 75

Characteristics:

OMIM:

57
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


Classifications:



External Ids:

OMIM 57 617729
Disease Ontology 12 DOID:0080245

Summaries for Galloway-Mowat Syndrome 3

UniProtKB/Swiss-Prot : 75 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, is also known as gamos3. An important gene associated with Galloway-Mowat Syndrome 3 is OSGEP (O-Sialoglycoprotein Endopeptidase). Affiliated tissues include brain and eye.

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)

Related Diseases for Galloway-Mowat Syndrome 3

Symptoms & Phenotypes for Galloway-Mowat Syndrome 3

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
strabismus
microphthalmia
downslanting palpebral fissures
epicanthal folds
more
Cardiovascular Vascular:
hypertension

Growth Other:
failure to thrive
intrauterine growth retardation

Growth Height:
short stature

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

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

Head And Neck Mouth:
high-arched palate
small mouth

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

Neurologic Central Nervous System:
intellectual disability
seizures
spasticity
pachygyria
cerebellar atrophy
more
Head And Neck Head:
microcephaly

Laboratory Abnormalities:
proteinuria
hypoalbuminemia

Muscle Soft Tissue:
edema
hypotonia

Skeletal Pelvis:
hip dislocation

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

Abdomen Gastrointestinal:
hiatal hernia


Clinical features from OMIM:

617729

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

Anatomical Context for Galloway-Mowat Syndrome 3

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

41
Brain, Eye

Publications for Galloway-Mowat Syndrome 3

Variations for Galloway-Mowat Syndrome 3

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

75 (show all 14)
# Symbol AA change Variation ID SNP ID
1 OSGEP p.Ile14Phe VAR_080357
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
6 OSGEP p.Ile139Thr VAR_080362
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
13 OSGEP p.Arg325Gln VAR_080369 rs753237335
14 OSGEP p.Arg325Trp VAR_080370 rs761839638

ClinVar genetic disease variations for Galloway-Mowat Syndrome 3:

6
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 OSGEP NM_017807.3(OSGEP): c.974G> A (p.Arg325Gln) single nucleotide variant Pathogenic rs753237335 GRCh37 Chromosome 14, 20915433: 20915433
2 OSGEP NM_017807.3(OSGEP): c.974G> A (p.Arg325Gln) single nucleotide variant Pathogenic rs753237335 GRCh38 Chromosome 14, 20447274: 20447274
3 OSGEP NM_017807.3(OSGEP): c.328T> C (p.Cys110Arg) single nucleotide variant Pathogenic rs140076803 GRCh38 Chromosome 14, 20452057: 20452057
4 OSGEP NM_017807.3(OSGEP): c.328T> C (p.Cys110Arg) single nucleotide variant Pathogenic rs140076803 GRCh37 Chromosome 14, 20920216: 20920216
5 OSGEP NM_017807.3(OSGEP): c.530G> C (p.Gly177Ala) single nucleotide variant Pathogenic rs778931753 GRCh38 Chromosome 14, 20448991: 20448991
6 OSGEP NM_017807.3(OSGEP): c.530G> C (p.Gly177Ala) single nucleotide variant Pathogenic rs778931753 GRCh37 Chromosome 14, 20917150: 20917150
7 OSGEP NM_017807.3(OSGEP): c.40A> T (p.Ile14Phe) single nucleotide variant Pathogenic GRCh38 Chromosome 14, 20454644: 20454644
8 OSGEP NM_017807.3(OSGEP): c.40A> T (p.Ile14Phe) single nucleotide variant Pathogenic GRCh37 Chromosome 14, 20922803: 20922803
9 OSGEP NM_017807.3(OSGEP): c.839G> A (p.Arg280His) single nucleotide variant Pathogenic rs144732839 GRCh37 Chromosome 14, 20915804: 20915804
10 OSGEP NM_017807.3(OSGEP): c.839G> A (p.Arg280His) single nucleotide variant Pathogenic rs144732839 GRCh38 Chromosome 14, 20447645: 20447645
11 OSGEP NM_017807.3(OSGEP): c.332T> C (p.Ile111Thr) single nucleotide variant Pathogenic GRCh37 Chromosome 14, 20920212: 20920212
12 OSGEP NM_017807.3(OSGEP): c.332T> C (p.Ile111Thr) single nucleotide variant Pathogenic GRCh38 Chromosome 14, 20452053: 20452053
13 OSGEP NM_017807.3(OSGEP): c.838C> T (p.Arg280Cys) single nucleotide variant Pathogenic rs374322839 GRCh38 Chromosome 14, 20447646: 20447646
14 OSGEP NM_017807.3(OSGEP): c.838C> T (p.Arg280Cys) single nucleotide variant Pathogenic rs374322839 GRCh37 Chromosome 14, 20915805: 20915805
15 OSGEP NM_017807.3(OSGEP): c.740G> A (p.Arg247Gln) single nucleotide variant Pathogenic rs773173317 GRCh38 Chromosome 14, 20447957: 20447957
16 OSGEP NM_017807.3(OSGEP): c.740G> A (p.Arg247Gln) single nucleotide variant Pathogenic rs773173317 GRCh37 Chromosome 14, 20916116: 20916116

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

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