MCID: GLL032
MIFTS: 41

Galloway-Mowat Syndrome

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

Aliases & Classifications for Galloway-Mowat Syndrome

MalaCards integrated aliases for Galloway-Mowat Syndrome:

Name: Galloway-Mowat Syndrome 12 52 58 36 29 39
Galloway Mowat Syndrome 74 52 43 71
Galloway Syndrome 52 58
Microcephaly, Hiatal Hernia, and Nephrotic Syndrome 52
Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type 52
Microcephaly-Hiatus Hernia-Nephrotic Syndrome 58
Nephrosis-Neuronal Dysmigration Syndrome 58
Nephrosis Neuronal Dysmigration Syndrome 52
Microcephaly Nephrosis Syndrome 52

Characteristics:

Orphanet epidemiological data:

58
galloway-mowat syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare renal diseases
Developmental anomalies during embryogenesis


Summaries for Galloway-Mowat Syndrome

KEGG : 36 Galloway-Mowat Syndrome (GAMOS) is an autosomal recessively inherited condition characterized by the association of nephrotic syndrome and central nervous system involvement. Several case reports and studies on small series describing the clinical and histopathological features of GAMOS have revealed the clinical heterogeneity of this condition. The consistent morphological hallmark is microcephaly, which is often present at birth (primary microcephaly) but might also develop postnatally (secondary microcephaly). Major brain abnormalities include cerebral atrophy and neural-migration defects, such as agyria, microgyria, or polymicrogyria. These structural brain abnormalities are associated with severe psychomotor impairment, hypotonia, and seizures in half of all cases. The nephrotic syndrome occurs in the first four months of life with an average of three months, and a congenital nephrotic syndrome has rarely been described. This nephrotic syndrome is steroid-resistant and associated with a constant and rapid deterioration of renal function. Death usually occurs within few years from the onset. Very recently, several genes have been identified as the cause of GAMOS.

MalaCards based summary : Galloway-Mowat Syndrome, also known as galloway mowat syndrome, is related to galloway-mowat syndrome 3 and galloway-mowat syndrome 2. An important gene associated with Galloway-Mowat Syndrome is WDR73 (WD Repeat Domain 73), and among its related pathways/superpathways are tRNA processing and Amoebiasis. Affiliated tissues include brain, kidney and eye, and related phenotypes are global developmental delay and microcephaly

Disease Ontology : 12 A syndrome that is characterized by developmental delay, progressive microcephaly, cerebral and cerebellar atrophy with extrapyramidal involvement, and optic atrophy.

NIH Rare Diseases : 52 Galloway-Mowat syndrome is a rare, neurodegenerative disorder characterized by various developmental and physical abnormalities. Signs and symptoms may include small head size (microcephaly ); developmental delay ; seizures ; nephrotic syndrome ; hiatal hernia ; optic atrophy ; movement disorders ; and intellectual disability . Other physical abnormalities may also be present. Galloway-Mowat syndrome may be caused by changes (mutations ) in the WDR73 gene and is inherited in an autosomal recessive manner. Other, unknown genes may also be responsible. Affected children often do not survive beyond the first few years of life. Treatment is aimed at the specific signs and symptoms present in each individual.

Wikipedia : 74 Galloway Mowat syndrome is a very rare autosomal recessive genetic disorder, consisting of a variety of... more...

Related Diseases for Galloway-Mowat Syndrome

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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 70)
# Related Disease Score Top Affiliating Genes
1 galloway-mowat syndrome 3 35.1 OSGEP LOC107372315
2 galloway-mowat syndrome 2 33.8 WDR73 TPRKB TP53RK OSGEP LAGE3 GON7
3 microcephaly 30.6 WDR73 WDR4 TPRKB TP53RK OSGEP NUP133
4 primary microcephaly 30.6 TPRKB TP53RK OSGEP LAGE3
5 galloway-mowat syndrome 1 30.4 ZNF592 YRDC WDR73 TPRKB TP53RK SYNPO
6 glomerular disease 30.4 NPHS2 NPHS1
7 nephrotic syndrome, type 2 30.2 NPHS2 NPHS1 ACTN4
8 diffuse mesangial sclerosis 30.0 NPHS2 NPHS1 LAMB2
9 end stage renal disease 30.0 NPHS2 NPHS1 ACTN4
10 familial nephrotic syndrome 29.5 SYNPO NPHS2 NPHS1 ACTN4
11 pierson syndrome 29.3 NPHS2 NPHS1 LAMB2 LAMA5 ACTN4
12 focal segmental glomerulosclerosis 29.2 SYNPO NUP107 NPHS2 NPHS1 LAMB2 ACTN4
13 nephrotic syndrome 29.2 WDR73 SYNPO NUP133 NUP107 NPHS2 NPHS1
14 galloway-mowat syndrome 2, x-linked 13.0
15 galloway-mowat syndrome 6 13.0
16 galloway-mowat syndrome 7 13.0
17 galloway-mowat syndrome 8 13.0
18 galloway-mowat syndrome 5 13.0
19 galloway-mowat syndrome 4 13.0
20 polymicrogyria 11.9
21 autosomal recessive disease 10.9
22 hernia, hiatus 10.7
23 alacrima, achalasia, and mental retardation syndrome 10.6
24 hypotonia 10.6
25 3-methylglutaconic aciduria, type iii 10.5
26 oligohydramnios 10.5
27 hypothyroidism 10.5
28 pathologic nystagmus 10.5
29 pachygyria 10.5
30 gastroesophageal reflux 10.3
31 developmental dysplasia of the hip 1 10.3
32 volvulus of midgut 10.3
33 ataxia and polyneuropathy, adult-onset 10.3
34 nephrotic syndrome, type 8 10.3
35 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.3
36 congenital hypothyroidism 10.3
37 hereditary ataxia 10.3
38 porencephaly 10.3
39 cerebellar hypoplasia 10.3
40 microphthalmia 10.3
41 visual epilepsy 10.3
42 encephalomalacia 10.3
43 cerebral atrophy 10.3
44 encephalopathy 10.3
45 seizure disorder 10.3
46 lower urinary tract calculus 10.1 WDR73 TPRKB TP53RK LAGE3
47 lissencephaly 10.0 WDR73 WDR4 NUP133 LAGE3
48 bladder calculus 10.0 WDR73 TPRKB TP53RK OSGEP LAGE3
49 focal segmental glomerulosclerosis 5 10.0 NPHS2 ACTN4
50 iga nephropathy 1 9.9 NPHS2 NPHS1

Graphical network of the top 20 diseases related to Galloway-Mowat Syndrome:



Diseases related to Galloway-Mowat Syndrome

Symptoms & Phenotypes for Galloway-Mowat Syndrome

Human phenotypes related to Galloway-Mowat Syndrome:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
3 cognitive impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0100543
4 proteinuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0000093
5 nephropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000112
6 nephrotic syndrome 58 31 hallmark (90%) Very frequent (99-80%) HP:0000100
7 hypoplasia of the ear cartilage 58 31 hallmark (90%) Very frequent (99-80%) HP:0100720
8 macrotia 58 31 frequent (33%) Frequent (79-30%) HP:0000400
9 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
10 eeg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0002353
11 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
12 premature birth 58 31 frequent (33%) Frequent (79-30%) HP:0001622
13 pachygyria 58 31 frequent (33%) Frequent (79-30%) HP:0001302
14 hiatus hernia 58 31 frequent (33%) Frequent (79-30%) HP:0002036
15 seizure 31 frequent (33%) HP:0001250
16 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
17 muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001252
18 abnormality of the dentition 58 31 occasional (7.5%) Occasional (29-5%) HP:0000164
19 hypertonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001276
20 hemiplegia/hemiparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004374
21 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
22 abnormality of immune system physiology 58 31 occasional (7.5%) Occasional (29-5%) HP:0010978
23 aqueductal stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002410
24 adducted thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0001181
25 hypotelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000601
26 camptodactyly of finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0100490
27 abnormality of the intervertebral disk 58 31 occasional (7.5%) Occasional (29-5%) HP:0005108
28 seizures 58 Frequent (79-30%)
29 abnormality of neuronal migration 58 Frequent (79-30%)

Drugs & Therapeutics for Galloway-Mowat Syndrome

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

Cochrane evidence based reviews: galloway mowat syndrome

Genetic Tests for Galloway-Mowat Syndrome

Genetic tests related to Galloway-Mowat Syndrome:

# Genetic test Affiliating Genes
1 Galloway-Mowat Syndrome 29

Anatomical Context for Galloway-Mowat Syndrome

MalaCards organs/tissues related to Galloway-Mowat Syndrome:

40
Brain, Kidney, Eye, Skin

Publications for Galloway-Mowat Syndrome

Articles related to Galloway-Mowat Syndrome:

(show top 50) (show all 59)
# Title Authors PMID Year
1
WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease. 6 61
26123727 2015
2
Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. 6 61
26070982 2015
3
Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome. 6 61
25873735 2015
4
Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome. 61 6
25466283 2014
5
Late-onset nephrotic syndrome and severe cerebellar atrophy in Galloway-Mowat syndrome. 61 6
16217710 2005
6
CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592. 6
20531441 2010
7
A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze Family. 6
12030328 2002
8
New autosomal recessive cerebellar ataxia disorder in a large inbred Lebanese family. 6
11391656 2001
9
Congenital Nephrotic Syndrome in India in the Current Era: A Multicenter Case Series. 61
31655822 2020
10
Fetal phenotype of Galloway-Mowat syndrome 3 caused by a specific OSGEP variant. 61
31564459 2019
11
Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome. 61
31481669 2019
12
WDR73-related galloway mowat syndrome with collapsing glomerulopathy. 61
30315938 2019
13
Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature. 61
30975089 2019
14
Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype. 61
30558655 2018
15
Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome. 61
30427554 2018
16
Mutations in WDR4 as a new cause of Galloway-Mowat syndrome. 61
30079490 2018
17
Nephrological and urological complications of homozygous c.974G>A (p.Arg325Gln) OSGEP mutations. 61
30141175 2018
18
A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report. 61
30053862 2018
19
Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings. 61
29929488 2018
20
Nephrotic syndrome: Novel monogenic causes of Galloway-Mowat syndrome. 61
28890537 2017
21
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. 61
28805828 2017
22
Galloway-mowat syndrome - unusual form of nephrotic syndrome in adolescent. 61
28937085 2017
23
An Amish founder mutation disrupts a PI(3)P-WHAMM-Arp2/3 complex-driven autophagosomal remodeling pathway. 61
28720660 2017
24
Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome. 61
28280135 2017
25
WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family. 61
27983999 2017
26
Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene. 61
27001912 2016
27
Collapsing Glomerulopathy in a Child with Galloway-Mowat Syndrome. 61
27403357 2016
28
Infantile nephrotic syndrome with microcephaly and global developmental delay: the Galloway Mowat Syndrome. 61
22144119 2012
29
Galloway-Mowat syndrome: neurologic features in two sibling pairs. 61
22759691 2012
30
Diffuse mesangial sclerosis - Report of two cases. 61
23087559 2012
31
Infant Boy with Microcephaly Gastroesophageal Refl ux and Nephrotic Syndrome (Galloway-Mowat Syndrome): A Case Report. 61
24829636 2012
32
Galloway-Mowat syndrome: prenatal ultrasound and perinatal magnetic resonance imaging findings. 61
21791310 2011
33
Neuropathological homology in true Galloway-Mowat syndrome. 61
21233460 2011
34
Galloway-Mowat syndrome: an early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review of literature. 61
20083416 2010
35
Recurrence of Galloway Mowat syndrome and associated prenatal imaging findings. 61
19177459 2009
36
Analysis of genes encoding laminin beta2 and related proteins in patients with Galloway-Mowat syndrome. 61
18594871 2008
37
Galloway-Mowat syndrome. 61
18798594 2008
38
Collapsing glomerulopathy in Galloway-Mowat syndrome: a case report and review of the literature. 61
18276083 2008
39
Anesthetic management of a patient with Galloway-Mowat syndrome. 61
17897280 2007
40
Perinatal imaging findings of Galloway-Mowat syndrome. 61
18019379 2007
41
Recurrent Galloway Mowat syndrome associated with abnormal prenatal sonographic findings. 61
16719284 2006
42
Prenatal magnetic resonance imaging of Galloway-Mowat syndrome. 61
15966048 2005
43
Late-onset growth restriction in Galloway-Mowat syndrome: a case report. 61
15712336 2005
44
Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: an autosomal recessive syndrome. 61
15372515 2004
45
Microcephaly, cerebellar atrophy, and focal segmental glomerulosclerosis in two brothers: a possible mild form of Galloway-Mowat syndrome. 61
12693786 2003
46
Podocyte proteins in Galloway-Mowat syndrome. 61
11793093 2001
47
Galloway-Mowat syndrome: a glomerular basement membrane disorder? 61
11519896 2001
48
Diagnostic dilemmas in four infants with nephrotic syndrome, microcephaly and severe developmental delay. 61
11310991 2001
49
A stepwise approach to the treatment of early onset nephrotic syndrome. 61
11045390 2000
50
Additional findings in Galloway-Mowat syndrome. 61
10805469 2000

Variations for Galloway-Mowat Syndrome

Expression for Galloway-Mowat Syndrome

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

Pathways for Galloway-Mowat Syndrome

GO Terms for Galloway-Mowat Syndrome

Cellular components related to Galloway-Mowat Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 synaptic cleft GO:0043083 9.32 LAMB2 LAMA5
2 nuclear pore outer ring GO:0031080 9.26 NUP133 NUP107
3 slit diaphragm GO:0036057 9.16 NPHS2 NPHS1
4 EKC/KEOPS complex GO:0000408 9.02 TPRKB TP53RK OSGEP LAGE3 GON7
5 laminin-11 complex GO:0043260 8.96 LAMB2 LAMA5

Biological processes related to Galloway-Mowat Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nephron development GO:0072006 9.32 NUP133 NUP107
2 tRNA threonylcarbamoyladenosine metabolic process GO:0070525 9.26 TP53RK LAGE3
3 tRNA threonylcarbamoyladenosine modification GO:0002949 9.16 TPRKB OSGEP
4 tRNA processing GO:0008033 9.02 WDR4 TPRKB TP53RK OSGEP LAGE3
5 metanephric glomerular visceral epithelial cell development GO:0072249 8.96 NPHS2 LAMB2

Molecular functions related to Galloway-Mowat Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of nuclear pore GO:0017056 8.96 NUP133 NUP107
2 integrin binding GO:0005178 8.8 LAMB2 LAMA5 ACTN4

Sources for Galloway-Mowat Syndrome

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72 UMLS via Orphanet
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