MCID: GLL032
MIFTS: 46

Galloway-Mowat Syndrome

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

Aliases & Classifications for Galloway-Mowat Syndrome

MalaCards integrated aliases for Galloway-Mowat Syndrome:

Name: Galloway-Mowat Syndrome 12 53 59 37 29 6 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 Amoebiasis. Affiliated tissues include brain and kidney, and related phenotypes are proteinuria and nephrotic syndrome

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 29)
# Related Disease Score Top Affiliating Genes
1 galloway-mowat syndrome 1 34.9 WDR73 ZNF592
2 microcephaly 30.1 LAGE3 OSGEP TP53RK TPRKB WDR73
3 focal segmental glomerulosclerosis 1 28.5 ACTN4 NPHS1 NPHS2 NUP107
4 nephrotic syndrome 27.2 ACTN4 LAMB2 NPHS1 NPHS2 NUP107 SYNPO
5 focal segmental glomerulosclerosis 26.5 ACTN4 LAMB2 NPHS1 NPHS2 NUP107 SYNPO
6 galloway-mowat syndrome 3 12.6
7 galloway-mowat syndrome 4 12.6
8 galloway-mowat syndrome 5 12.6
9 galloway-mowat syndrome 2, x-linked 12.6
10 galloway-mowat syndrome 2 12.2
11 shipyard eye 10.4 OSGEP TP53RK
12 epilepsy 10.2
13 retinitis 10.2
14 encephalopathy 10.2
15 pierson syndrome 9.8 LAMB2 NPHS2
16 familial idiopathic steroid-resistant nephrotic syndrome with minimal changes 9.7 NPHS1 NPHS2
17 atrial septal defect 3 9.6 NPHS1 NPHS2
18 kidney hypertrophy 9.6 NPHS1 NPHS2
19 nephrosclerosis 9.5 NPHS2 SYNPO
20 denys-drash syndrome 9.3 NPHS1 NPHS2
21 familial nephrotic syndrome 9.3 ACTN4 NPHS1 NPHS2
22 nephrotic syndrome, type 1 9.3 ACTN4 NPHS1 NPHS2
23 frasier syndrome 9.3 ACTN4 NPHS1 NPHS2
24 crescentic glomerulonephritis 9.2 NPHS2 SYNPO
25 chronic kidney failure 9.1 ACTN4 NPHS1 NPHS2
26 diffuse mesangial sclerosis 9.1 LAMB2 NPHS1 NPHS2
27 lipoid nephrosis 9.0 NPHS1 NPHS2 SYNPO
28 urinary system disease 8.9 NPHS1 NPHS2 SYNPO
29 hypoparathyroidism, sensorineural deafness, and renal disease 8.7 ACTN4 LAMB2 NPHS1 NPHS2

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 proteinuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0000093
2 nephrotic syndrome 59 32 hallmark (90%) Very frequent (99-80%) HP:0000100
3 nephropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000112
4 abnormality of the dentition 59 32 occasional (7.5%) Occasional (29-5%) HP:0000164
5 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
6 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
7 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
8 macrotia 59 32 frequent (33%) Frequent (79-30%) HP:0000400
9 hypotelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000601
10 adducted thumb 59 32 occasional (7.5%) Occasional (29-5%) HP:0001181
11 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
12 muscular hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001252
13 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
14 hypertonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001276
15 pachygyria 59 32 frequent (33%) Frequent (79-30%) HP:0001302
16 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
17 premature birth 59 32 frequent (33%) Frequent (79-30%) HP:0001622
18 hiatus hernia 59 32 frequent (33%) Frequent (79-30%) HP:0002036
19 eeg abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0002353
20 aqueductal stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002410
21 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
22 hemiplegia/hemiparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004374
23 abnormality of the intervertebral disk 59 32 occasional (7.5%) Occasional (29-5%) HP:0005108
24 abnormality of immune system physiology 59 32 occasional (7.5%) Occasional (29-5%) HP:0010978
25 camptodactyly of finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0100490
26 cognitive impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0100543
27 hypoplasia of the ear cartilage 59 32 hallmark (90%) Very frequent (99-80%) HP:0100720
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 9.1 ACTN4 LAMA5 LAMB2 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 WDR73 ZNF592

Anatomical Context for Galloway-Mowat Syndrome

MalaCards organs/tissues related to Galloway-Mowat Syndrome:

41
Brain, Kidney

Publications for Galloway-Mowat Syndrome

Articles related to Galloway-Mowat Syndrome:

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

Variations for Galloway-Mowat Syndrome

ClinVar genetic disease variations for Galloway-Mowat Syndrome:

6
(show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 WDR73 NM_032856.3(WDR73): c.129T> G (p.Tyr43Ter) single nucleotide variant Pathogenic rs727502863 GRCh37 Chromosome 15, 85196014: 85196014
2 WDR73 NM_032856.3(WDR73): c.129T> G (p.Tyr43Ter) single nucleotide variant Pathogenic rs727502863 GRCh38 Chromosome 15, 84652783: 84652783
3 WDR73 NM_032856.3(WDR73): c.766dupC (p.Arg256Profs) duplication Pathogenic rs727502864 GRCh37 Chromosome 15, 85188819: 85188819
4 WDR73 NM_032856.3(WDR73): c.766dupC (p.Arg256Profs) duplication Pathogenic rs727502864 GRCh38 Chromosome 15, 84645588: 84645588
5 WDR73 NM_032856.3(WDR73): c.703C> T (p.Gln235Ter) single nucleotide variant Pathogenic rs797044992 GRCh38 Chromosome 15, 84645651: 84645651
6 WDR73 NM_032856.3(WDR73): c.703C> T (p.Gln235Ter) single nucleotide variant Pathogenic rs797044992 GRCh37 Chromosome 15, 85188882: 85188882
7 WDR73 NM_032856.3(WDR73): c.400_401delAG (p.Trp136Alafs) deletion Pathogenic rs767086146 GRCh37 Chromosome 15, 85189531: 85189532
8 WDR73 NM_032856.3(WDR73): c.400_401delAG (p.Trp136Alafs) deletion Pathogenic rs767086146 GRCh38 Chromosome 15, 84646300: 84646301
9 WDR73 NM_032856.3(WDR73): c.1039C> T (p.His347Tyr) single nucleotide variant Pathogenic rs754099015 GRCh38 Chromosome 15, 84643568: 84643568
10 WDR73 NM_032856.3(WDR73): c.1039C> T (p.His347Tyr) single nucleotide variant Pathogenic rs754099015 GRCh37 Chromosome 15, 85186799: 85186799
11 WDR73 NM_032856.3(WDR73): c.68T> A (p.Leu23Gln) single nucleotide variant Likely pathogenic rs797044993 GRCh38 Chromosome 15, 84653673: 84653673
12 WDR73 NM_032856.3(WDR73): c.68T> A (p.Leu23Gln) single nucleotide variant Likely pathogenic rs797044993 GRCh37 Chromosome 15, 85196904: 85196904
13 WDR73 NM_032856.3(WDR73): c.940C> T (p.Gln314Ter) single nucleotide variant Pathogenic rs797044994 GRCh38 Chromosome 15, 84643667: 84643667
14 WDR73 NM_032856.3(WDR73): c.940C> T (p.Gln314Ter) single nucleotide variant Pathogenic rs797044994 GRCh37 Chromosome 15, 85186898: 85186898
15 WDR73 NM_032856.3(WDR73): c.287G> A (p.Arg96Lys) single nucleotide variant Pathogenic rs797044995 GRCh38 Chromosome 15, 84648537: 84648537
16 WDR73 NM_032856.3(WDR73): c.287G> A (p.Arg96Lys) single nucleotide variant Pathogenic rs797044995 GRCh37 Chromosome 15, 85191768: 85191768
17 WDR73 NM_032856.3(WDR73): c.888delT (p.Phe296Leufs) deletion Pathogenic rs869320712 GRCh37 Chromosome 15, 85186950: 85186950
18 WDR73 NM_032856.3(WDR73): c.888delT (p.Phe296Leufs) deletion Pathogenic rs869320712 GRCh38 Chromosome 15, 84643719: 84643719

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 9.37 ACTN4 SYNPO
2 basal lamina GO:0005605 9.32 LAMA5 LAMB2
3 synaptic cleft GO:0043083 9.26 LAMA5 LAMB2
4 slit diaphragm GO:0036057 9.16 NPHS1 NPHS2
5 laminin-11 complex GO:0043260 8.96 LAMA5 LAMB2
6 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 9.26 NPHS1 NPHS2
2 tRNA threonylcarbamoyladenosine modification GO:0002949 9.16 OSGEP TPRKB
3 metanephric glomerular visceral epithelial cell development GO:0072249 8.96 LAMB2 NPHS2
4 tRNA processing GO:0008033 8.92 LAGE3 OSGEP TP53RK TPRKB

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.73 ACTN4 LAGE3 LAMA5 NPHS1 NPHS2 NUP107
2 integrin binding GO:0005178 8.8 ACTN4 LAMA5 LAMB2

Sources for Galloway-Mowat Syndrome

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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31 HMDB
32 HPO
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34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
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45 MESH via Orphanet
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49 NCI
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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