MCID: GLL032
MIFTS: 45

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 53 59 37 29 15 40
Galloway Mowat Syndrome 76 53 44 73
Galloway Syndrome 12 53 59
Nephrosis-Neuronal Dysmigration Syndrome 12 59
Microcephaly, Hiatal Hernia, and Nephrotic Syndrome 53
Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type 53
Microcephaly, Hiatal Hernia and Nephrotic Syndrome 12
Microcephaly-Hiatus Hernia-Nephrotic Syndrome 59
Nephrosis Neuronal Dysmigration Syndrome 53
Nephrosis-Microcephaly Syndrome 12
Microcephaly Nephrosis Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
galloway-mowat syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal;

Classifications:



Summaries for Galloway-Mowat Syndrome

NIH Rare Diseases : 53 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.

MalaCards based summary : Galloway-Mowat Syndrome, also known as galloway mowat syndrome, is related to galloway-mowat syndrome 1 and microcephaly. An important gene associated with Galloway-Mowat Syndrome is WDR73 (WD Repeat Domain 73), and among its related pathways/superpathways are tRNA processing and Primary Focal Segmental Glomerulosclerosis FSGS. Affiliated tissues include brain, eye and kidney, and related phenotypes are hypertelorism and seizures

Disease Ontology : 12 An autosomal recessive disease characterized_by is a rare autosomal recessive disease, characterized by microcephaly with brain anomalies including CA in some cases, intellectual disability, and early-infantile-onset nephrotic syndrome.

Wikipedia : 76 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 2

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

(show all 35)
# Related Disease Score Top Affiliating Genes
1 galloway-mowat syndrome 1 34.7 WDR73 ZNF592
2 microcephaly 30.8 LAGE3 OSGEP TP53RK TPRKB WDR73
3 nephrotic syndrome 30.7 ACTN4 NPHS1 NPHS2 NUP107
4 focal segmental glomerulosclerosis 1 30.5 ACTN4 NPHS1
5 focal segmental glomerulosclerosis 29.6 ACTN4 NPHS1 NPHS2 NUP107 SYNPO
6 galloway-mowat syndrome 3 12.8
7 galloway-mowat syndrome 4 12.8
8 galloway-mowat syndrome 5 12.8
9 galloway-mowat syndrome 2, x-linked 12.8
10 galloway-mowat syndrome 2 12.4
11 epilepsy 10.3
12 encephalopathy 10.3
13 shipyard eye 10.1 OSGEP TP53RK
14 hernia, hiatus 10.1 LAGE3 TPRKB WDR73
15 intestinal volvulus 10.0 LAGE3 TP53RK TPRKB WDR73
16 nephrotic syndrome, type 6 10.0 NPHS1 NPHS2
17 kidney hypertrophy 10.0 NPHS1 NPHS2
18 atrial septal defect 3 9.9 NPHS1 NPHS2
19 denys-drash syndrome 9.9 NPHS1 NPHS2
20 bladder calculus 9.9 LAGE3 OSGEP TP53RK TPRKB WDR73
21 lower urinary tract calculus 9.9 LAGE3 OSGEP TP53RK TPRKB WDR73
22 diffuse mesangial sclerosis 9.9 NPHS1 NPHS2
23 acute proliferative glomerulonephritis 9.8 NPHS1 SYNPO
24 hypoparathyroidism, sensorineural deafness, and renal disease 9.8 ACTN4 NPHS1 NPHS2
25 familial nephrotic syndrome 9.8 ACTN4 NPHS1 NPHS2
26 nephrotic syndrome, type 1 9.8 ACTN4 NPHS1 NPHS2
27 frasier syndrome 9.8 ACTN4 NPHS1 NPHS2
28 chronic kidney failure 9.8 ACTN4 NPHS1 NPHS2
29 iga glomerulonephritis 9.8 NPHS1 NPHS2
30 crescentic glomerulonephritis 9.7 NPHS2 SYNPO
31 familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 9.7 ACTN4 NPHS1 NPHS2 NUP107
32 lipoid nephrosis 9.7 NPHS1 NPHS2 SYNPO
33 nephrosclerosis 9.7 NPHS1 NPHS2 SYNPO
34 urinary system disease 9.7 NPHS1 NPHS2 SYNPO
35 wilms tumor 1 9.6 NPHS1 NPHS2 SYNPO

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:

59 32 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
2 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
3 muscular hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001252
4 eeg abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0002353
5 aqueductal stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002410
6 macrotia 59 32 frequent (33%) Frequent (79-30%) HP:0000400
7 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
8 abnormality of the dentition 59 32 occasional (7.5%) Occasional (29-5%) HP:0000164
9 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
10 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
11 hypertonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001276
12 cognitive impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0100543
13 proteinuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0000093
14 nephropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000112
15 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
16 hemiplegia/hemiparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004374
17 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
18 abnormality of immune system physiology 59 32 occasional (7.5%) Occasional (29-5%) HP:0010978
19 nephrotic syndrome 59 32 hallmark (90%) Very frequent (99-80%) HP:0000100
20 hypoplasia of the ear cartilage 59 32 hallmark (90%) Very frequent (99-80%) HP:0100720
21 adducted thumb 59 32 occasional (7.5%) Occasional (29-5%) HP:0001181
22 hypotelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000601
23 camptodactyly of finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0100490
24 pachygyria 59 32 frequent (33%) Frequent (79-30%) HP:0001302
25 hiatus hernia 59 32 frequent (33%) Frequent (79-30%) HP:0002036
26 premature birth 59 32 frequent (33%) Frequent (79-30%) HP:0001622
27 abnormality of the intervertebral disk 59 32 occasional (7.5%) Occasional (29-5%) HP:0005108
28 abnormality of neuronal migration 59 Frequent (79-30%)

MGI Mouse Phenotypes related to Galloway-Mowat Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.02 ACTN4 LAMA5 NPHS1 NPHS2 SYNPO

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:

41
Brain, Eye, Kidney

Publications for Galloway-Mowat Syndrome

Articles related to Galloway-Mowat Syndrome:

(show all 39)
# Title Authors Year
1
Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings. ( 29929488 )
2018
2
A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report. ( 30053862 )
2018
3
Mutations in WDR4 as a new cause of Galloway-Mowat syndrome. ( 30079490 )
2018
4
WDR73-related galloway mowat syndrome with collapsing glomerulopathy. ( 30315938 )
2018
5
Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome. ( 30427554 )
2018
6
Galloway-mowat syndrome - unusual form of nephrotic syndrome in adolescent. ( 28937085 )
2017
7
Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome. ( 28280135 )
2017
8
Nephrotic syndrome: Novel monogenic causes of Galloway-Mowat syndrome. ( 28890537 )
2017
9
Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene. ( 27001912 )
2016
10
Collapsing Glomerulopathy in a Child with Galloway-Mowat Syndrome. ( 27403357 )
2016
11
Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome. ( 25873735 )
2015
12
Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. ( 26070982 )
2015
13
Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome. ( 25466283 )
2014
14
Galloway-Mowat syndrome: neurologic features in two sibling pairs. ( 22759691 )
2012
15
Infant Boy with Microcephaly Gastroesophageal Refl ux and Nephrotic Syndrome (Galloway-Mowat Syndrome): A Case Report. ( 24829636 )
2012
16
Infantile nephrotic syndrome with microcephaly and global developmental delay: the Galloway Mowat Syndrome. ( 22144119 )
2012
17
Neuropathological homology in true Galloway-Mowat syndrome. ( 21233460 )
2011
18
Galloway-Mowat syndrome: prenatal ultrasound and perinatal magnetic resonance imaging findings. ( 21791310 )
2011
19
Galloway-Mowat syndrome: an early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review of literature. ( 20083416 )
2010
20
Recurrence of Galloway Mowat syndrome and associated prenatal imaging findings. ( 19177459 )
2009
21
Collapsing glomerulopathy in Galloway-Mowat syndrome: a case report and review of the literature. ( 18276083 )
2008
22
Galloway-Mowat syndrome. ( 18798594 )
2008
23
Analysis of genes encoding laminin beta2 and related proteins in patients with Galloway-Mowat syndrome. ( 18594871 )
2008
24
Anesthetic management of a patient with Galloway-Mowat syndrome. ( 17897280 )
2007
25
Perinatal imaging findings of Galloway-Mowat syndrome. ( 18019379 )
2007
26
Recurrent Galloway Mowat syndrome associated with abnormal prenatal sonographic findings. ( 16719284 )
2006
27
Late-onset growth restriction in Galloway-Mowat syndrome: a case report. ( 15712336 )
2005
28
Late-onset nephrotic syndrome and severe cerebellar atrophy in Galloway-Mowat syndrome. ( 16217710 )
2005
29
Prenatal magnetic resonance imaging of Galloway-Mowat syndrome. ( 15966048 )
2005
30
Microcephaly, cerebellar atrophy, and focal segmental glomerulosclerosis in two brothers: a possible mild form of Galloway-Mowat syndrome. ( 12693786 )
2003
31
Podocyte proteins in Galloway-Mowat syndrome. ( 11793093 )
2001
32
Galloway-Mowat syndrome: a glomerular basement membrane disorder? ( 11519896 )
2001
33
Additional findings in Galloway-Mowat syndrome. ( 10805469 )
2000
34
Late-onset nephrotic syndrome in galloway-mowat syndrome: a case report. ( 18212429 )
1999
35
Further case of Galloway-Mowat syndrome of abnormal gyral patterns and glomerulopathy. ( 9098497 )
1997
36
Galloway-Mowat syndrome in Taiwan. ( 8533826 )
1995
37
Microcephaly and early-onset nephrotic syndrome--confusion in Galloway-Mowat syndrome. ( 8747110 )
1995
38
Kidney in Galloway-Mowat syndrome: clinical spectrum with description of pathology. ( 8072253 )
1994
39
Galloway-Mowat syndrome of abnormal gyral patterns and glomerulopathy. ( 8213914 )
1993

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 stress fiber GO:0001725 9.16 ACTN4 SYNPO
2 slit diaphragm GO:0036057 8.96 NPHS1 NPHS2
3 EKC/KEOPS complex GO:0000408 8.92 LAGE3 OSGEP TP53RK TPRKB

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

# Name GO ID Score Top Affiliating Genes
1 excretion GO:0007588 9.16 NPHS1 NPHS2
2 tRNA threonylcarbamoyladenosine modification GO:0002949 8.96 OSGEP TPRKB
3 tRNA processing GO:0008033 8.92 LAGE3 OSGEP TP53RK TPRKB

Sources for Galloway-Mowat Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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