MCID: GLL032
MIFTS: 45

Galloway-Mowat Syndrome

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

Aliases & Classifications for Galloway-Mowat Syndrome

MalaCards integrated aliases for Galloway-Mowat Syndrome:

Name: Galloway-Mowat Syndrome 12 49 55 36 28 14
Galloway Mowat Syndrome 72 49 41 69
Galloway Syndrome 12 49 55
Nephrosis-Neuronal Dysmigration Syndrome 12 55
Microcephaly, Hiatal Hernia, and Nephrotic Syndrome 49
Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type 49
Microcephaly, Hiatal Hernia and Nephrotic Syndrome 12
Microcephaly-Hiatus Hernia-Nephrotic Syndrome 55
Nephrosis Neuronal Dysmigration Syndrome 49
Nephrosis-Microcephaly Syndrome 12
Microcephaly Nephrosis Syndrome 49

Characteristics:

Orphanet epidemiological data:

55
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 : 49 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. Last updated: 5/23/2017

MalaCards based summary : Galloway-Mowat Syndrome, also known as galloway mowat syndrome, is related to galloway-mowat syndrome 1 and focal segmental glomerulosclerosis 1, and has symptoms including proteinuria, nephrotic syndrome and nephropathy. 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 related phenotype is renal/urinary system.

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 : 72 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

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

(show all 27)
# Related Disease Score Top Affiliating Genes
1 galloway-mowat syndrome 1 34.4 WDR73 ZNF592
2 focal segmental glomerulosclerosis 1 29.8 ACTN4 NPHS1 NPHS2 NUP107
3 focal segmental glomerulosclerosis 29.7 ACTN4 LAMB2 NPHS1 NPHS2 SYNPO
4 nephrotic syndrome 29.4 ACTN4 LAMB2 NPHS1 NPHS2 NUP107 SYNPO
5 galloway-mowat syndrome 2, x-linked 12.6
6 galloway-mowat syndrome 3 12.6
7 galloway-mowat syndrome 4 12.6
8 galloway-mowat syndrome 5 12.6
9 microcephaly 10.5
10 familial idiopathic steroid-resistant nephrotic syndrome with minimal changes 10.3 NPHS1 NPHS2
11 atrial septal defect 3 10.2 NPHS1 NPHS2
12 kidney hypertrophy 10.2 NPHS1 NPHS2
13 epilepsy 10.2
14 encephalopathy 10.2
15 denys-drash syndrome 10.2 NPHS1 NPHS2
16 familial nephrotic syndrome 10.1 ACTN4 NPHS1 NPHS2
17 nephrosclerosis 10.1 NPHS2 SYNPO
18 nephrotic syndrome, type 1 10.1 ACTN4 NPHS1 NPHS2
19 pierson syndrome 10.1 LAMA5 LAMB2 NPHS2
20 frasier syndrome 10.1 ACTN4 NPHS1 NPHS2
21 lipoid nephrosis 10.1 NPHS1 NPHS2 SYNPO
22 crescentic glomerulonephritis 10.0 NPHS2 SYNPO
23 diffuse mesangial sclerosis 10.0 LAMB2 NPHS1 NPHS2
24 urinary system disease 10.0 NPHS1 NPHS2 SYNPO
25 hypoparathyroidism, sensorineural deafness, and renal disease 9.9 ACTN4 LAMB2 NPHS1 NPHS2
26 kidney disease 9.7 ACTN4 NPHS1 NPHS2
27 shipyard eye 9.7 OSGEP TP53RK

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:

55 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 proteinuria 55 31 hallmark (90%) Very frequent (99-80%) HP:0000093
2 nephrotic syndrome 55 31 hallmark (90%) Very frequent (99-80%) HP:0000100
3 nephropathy 55 31 hallmark (90%) Very frequent (99-80%) HP:0000112
4 abnormality of the dentition 55 31 occasional (7.5%) Occasional (29-5%) HP:0000164
5 microcephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000252
6 hypertelorism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000316
7 micrognathia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000347
8 macrotia 55 31 frequent (33%) Frequent (79-30%) HP:0000400
9 hypotelorism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000601
10 adducted thumb 55 31 occasional (7.5%) Occasional (29-5%) HP:0001181
11 seizures 55 31 frequent (33%) Frequent (79-30%) HP:0001250
12 muscular hypotonia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001252
13 global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0001263
14 hypertonia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001276
15 pachygyria 55 31 frequent (33%) Frequent (79-30%) HP:0001302
16 intrauterine growth retardation 55 31 frequent (33%) Frequent (79-30%) HP:0001511
17 premature birth 55 31 frequent (33%) Frequent (79-30%) HP:0001622
18 hiatus hernia 55 31 frequent (33%) Frequent (79-30%) HP:0002036
19 eeg abnormality 55 31 frequent (33%) Frequent (79-30%) HP:0002353
20 aqueductal stenosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002410
21 short stature 55 31 frequent (33%) Frequent (79-30%) HP:0004322
22 hemiplegia/hemiparesis 55 31 occasional (7.5%) Occasional (29-5%) HP:0004374
23 abnormality of the intervertebral disk 55 31 occasional (7.5%) Occasional (29-5%) HP:0005108
24 abnormality of immune system physiology 55 31 occasional (7.5%) Occasional (29-5%) HP:0010978
25 camptodactyly of finger 55 31 occasional (7.5%) Occasional (29-5%) HP:0100490
26 cognitive impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0100543
27 hypoplasia of the ear cartilage 55 31 hallmark (90%) Very frequent (99-80%) HP:0100720
28 abnormality of neuronal migration 55 Frequent (79-30%)

MGI Mouse Phenotypes related to Galloway-Mowat Syndrome:

43
# 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 28 WDR73 ZNF592

Anatomical Context for Galloway-Mowat Syndrome

MalaCards organs/tissues related to Galloway-Mowat Syndrome:

38
Brain

Publications for Galloway-Mowat Syndrome

Articles related to Galloway-Mowat Syndrome:

(show all 27)
# Title Authors Year
1
Nephrotic syndrome: Novel monogenic causes of Galloway-Mowat syndrome. ( 28890537 )
2017
2
Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome. ( 28280135 )
2017
3
Galloway-mowat syndrome - unusual form of nephrotic syndrome in adolescent. ( 28937085 )
2017
4
Collapsing Glomerulopathy in a Child with Galloway-Mowat Syndrome. ( 27403357 )
2016
5
Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene. ( 27001912 )
2016
6
Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. ( 26070982 )
2015
7
Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome. ( 25873735 )
2015
8
Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome. ( 25466283 )
2014
9
Infant Boy with Microcephaly Gastroesophageal Refl ux and Nephrotic Syndrome (Galloway-Mowat Syndrome): A Case Report. ( 24829636 )
2012
10
Infantile nephrotic syndrome with microcephaly and global developmental delay: the Galloway Mowat Syndrome. ( 22144119 )
2012
11
Galloway-Mowat syndrome: neurologic features in two sibling pairs. ( 22759691 )
2012
12
Neuropathological homology in true Galloway-Mowat syndrome. ( 21233460 )
2011
13
Galloway-Mowat syndrome: prenatal ultrasound and perinatal magnetic resonance imaging findings. ( 21791310 )
2011
14
Galloway-Mowat syndrome: an early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review of literature. ( 20083416 )
2010
15
Recurrence of Galloway Mowat syndrome and associated prenatal imaging findings. ( 19177459 )
2009
16
Galloway-Mowat syndrome. ( 18798594 )
2008
17
Analysis of genes encoding laminin beta2 and related proteins in patients with Galloway-Mowat syndrome. ( 18594871 )
2008
18
Collapsing glomerulopathy in Galloway-Mowat syndrome: a case report and review of the literature. ( 18276083 )
2008
19
Perinatal imaging findings of Galloway-Mowat syndrome. ( 18019379 )
2007
20
Anesthetic management of a patient with Galloway-Mowat syndrome. ( 17897280 )
2007
21
Recurrent Galloway Mowat syndrome associated with abnormal prenatal sonographic findings. ( 16719284 )
2006
22
Prenatal magnetic resonance imaging of Galloway-Mowat syndrome. ( 15966048 )
2005
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
Microcephaly, cerebellar atrophy, and focal segmental glomerulosclerosis in two brothers: a possible mild form of Galloway-Mowat syndrome. ( 12693786 )
2003
26
Podocyte proteins in Galloway-Mowat syndrome. ( 11793093 )
2001
27
Late-onset nephrotic syndrome in galloway-mowat syndrome: a case report. ( 18212429 )
1999

Variations for Galloway-Mowat Syndrome

ClinVar genetic disease variations for Galloway-Mowat Syndrome:

6
# 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.766dupC (p.Arg256Profs) duplication Pathogenic rs727502864 GRCh37 Chromosome 15, 85188819: 85188819
3 WDR73 NM_032856.3(WDR73): c.703C> T (p.Gln235Ter) single nucleotide variant Pathogenic rs797044992 GRCh38 Chromosome 15, 84645651: 84645651
4 WDR73 NM_032856.3(WDR73): c.400_401delAG (p.Trp136Alafs) deletion Pathogenic rs767086146 GRCh37 Chromosome 15, 85189531: 85189532
5 WDR73 NM_032856.3(WDR73): c.1039C> T (p.His347Tyr) single nucleotide variant Pathogenic rs754099015 GRCh38 Chromosome 15, 84643568: 84643568
6 WDR73 NM_032856.3(WDR73): c.68T> A (p.Leu23Gln) single nucleotide variant Pathogenic/Likely pathogenic rs797044993 GRCh38 Chromosome 15, 84653673: 84653673
7 WDR73 NM_032856.3(WDR73): c.940C> T (p.Gln314Ter) single nucleotide variant Pathogenic rs797044994 GRCh38 Chromosome 15, 84643667: 84643667
8 WDR73 NM_032856.3(WDR73): c.287G> A (p.Arg96Lys) single nucleotide variant Pathogenic rs797044995 GRCh38 Chromosome 15, 84648537: 84648537
9 WDR73 NM_032856.3(WDR73): c.888delT (p.Phe296Leufs) deletion Pathogenic rs869320712 GRCh37 Chromosome 15, 85186950: 85186950

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 basal lamina GO:0005605 9.32 LAMA5 LAMB2
2 synaptic cleft GO:0043083 9.26 LAMA5 LAMB2
3 slit diaphragm GO:0036057 9.16 NPHS1 NPHS2
4 laminin-11 complex GO:0043260 8.96 LAMA5 LAMB2
5 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 metanephric glomerular visceral epithelial cell development GO:0072249 8.96 LAMB2 NPHS2
3 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 integrin binding GO:0005178 8.8 ACTN4 LAMA5 LAMB2

Sources for Galloway-Mowat Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....