MCID: GLL032
MIFTS: 46

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 20 58 36 29 6 15 39
Galloway Mowat Syndrome 73 20 44 70
Microcephaly Nephrosis Syndrome 20 6
Galloway Syndrome 20 58
Microcephaly, Hiatal Hernia, and Nephrotic Syndrome 20
Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type 20
Microcephaly-Hiatus Hernia-Nephrotic Syndrome 58
Nephrosis-Neuronal Dysmigration Syndrome 58
Nephrosis Neuronal Dysmigration Syndrome 20

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 1. 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 eye, brain and kidney, 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.

GARD : 20 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 : 73 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 74)
# Related Disease Score Top Affiliating Genes
1 galloway-mowat syndrome 3 33.5 OSGEP LOC107372315
2 galloway-mowat syndrome 1 33.4 ZNF592 WDR73 WDR4 TPRKB LAGE3 GON7
3 galloway-mowat syndrome 2 32.9 WDR73 TPRKB TP53RK OSGEP LAGE3 GON7
4 microcephaly 31.6 WDR73 WDR4 TPRKB TP53RK OSGEP NUP133
5 proteinuria, chronic benign 31.3 SYNPO NPHS2 NPHS1 ACTN4
6 nephrotic syndrome 31.2 WDR73 TPRKB TP53RK SYNPO OSGEP NUP133
7 spinocerebellar ataxia autosomal recessive 5 31.0 ZNF592 WDR73
8 focal segmental glomerulosclerosis 30.9 SYNPO PTPRU NUP133 NUP107 NPHS2 NPHS1
9 familial nephrotic syndrome 30.9 SYNPO NPHS2 NPHS1 ACTN4
10 nephrotic syndrome, type 2 30.7 NPHS2 NPHS1 ACTN4
11 primary microcephaly 30.7 TPRKB TP53RK OSGEP LAGE3
12 diffuse mesangial sclerosis 30.7 NPHS2 NPHS1 LAMB2
13 pierson syndrome 30.6 NPHS2 NPHS1 LAMB2 LAMA5 ACTN4
14 galloway-mowat syndrome 5 11.9
15 galloway-mowat syndrome 4 11.9
16 galloway-mowat syndrome 2, x-linked 11.8
17 galloway-mowat syndrome 6 11.8
18 galloway-mowat syndrome 7 11.8
19 galloway-mowat syndrome 8 11.8
20 polymicrogyria 11.3
21 autosomal recessive disease 10.7
22 hernia, hiatus 10.5
23 idiopathic steroid-resistant nephrotic syndrome 10.4 NPHS2 NPHS1
24 oligomeganephronia 10.4 NPHS2 NPHS1 ACTN4
25 autosomal recessive congenital cerebellar ataxia 10.4 ZNF592 WDR73
26 bladder calculus 10.4 WDR73 TPRKB TP53RK OSGEP LAGE3
27 alacrima, achalasia, and mental retardation syndrome 10.4
28 pathologic nystagmus 10.4
29 hypotonia 10.4
30 lower urinary tract calculus 10.4 WDR73 TPRKB TP53RK OSGEP LAGE3
31 kidney hypertrophy 10.4 SYNPO NPHS2 NPHS1
32 congenital syphilis 10.3 NPHS2 NPHS1
33 nephrotic syndrome, type 1 10.3 NPHS2 NPHS1 ACTN4
34 acute proliferative glomerulonephritis 10.3 SYNPO NPHS2 NPHS1
35 nail-patella syndrome 10.3 NPHS2 NPHS1 ACTN4
36 crescentic glomerulonephritis 10.3 SYNPO NPHS2 ACTN4
37 stromme syndrome 10.3 NUP133 NUP107
38 lipoid nephrosis 10.3 SYNPO NPHS2 NPHS1 ACTN4
39 focal segmental glomerulosclerosis 2 10.3 NPHS2 NPHS1 LAMB2 ACTN4
40 hypoparathyroidism, sensorineural deafness, and renal disease 10.3 NPHS2 NPHS1 LAMB2 ACTN4
41 focal segmental glomerulosclerosis 5 10.3 LAMB2 ACTN4
42 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 10.3 NPHS2 NPHS1 ACTN4
43 nephrosclerosis 10.3 SYNPO NPHS2 NPHS1
44 frasier syndrome 10.3 WDR73 NUP107 NPHS2 NPHS1 ACTN4
45 denys-drash syndrome 10.3 SYNPO NUP107 NPHS2 NPHS1 ACTN4
46 focal segmental glomerulosclerosis 1 10.3 NUP107 NPHS2 NPHS1 LAMB2 ACTN4
47 genetic steroid-resistant nephrotic syndrome 10.3 NUP133 NUP107 NPHS2 NPHS1 ACTN4
48 3-methylglutaconic aciduria, type iii 10.3
49 oligohydramnios 10.3
50 hypothyroidism 10.3

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 30)
# 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 eeg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0002353
9 macrotia 58 31 frequent (33%) Frequent (79-30%) HP:0000400
10 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
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 aqueductal stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002410
17 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
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 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
21 abnormality of immune system physiology 58 31 occasional (7.5%) Occasional (29-5%) HP:0010978
22 hemiplegia/hemiparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004374
23 adducted thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0001181
24 hypotelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000601
25 camptodactyly of finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0100490
26 abnormality of the intervertebral disk 58 31 occasional (7.5%) Occasional (29-5%) HP:0005108
27 hypotonia 31 occasional (7.5%) HP:0001252
28 seizures 58 Frequent (79-30%)
29 muscular hypotonia 58 Occasional (29-5%)
30 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
Eye, Brain, Kidney, Skin

Publications for Galloway-Mowat Syndrome

Articles related to Galloway-Mowat Syndrome:

(show top 50) (show all 65)
# Title Authors PMID Year
1
Mutations in WDR4 as a new cause of Galloway-Mowat syndrome. 6 61
30079490 2018
2
WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease. 6 61
26123727 2015
3
Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. 6 61
26070982 2015
4
Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome. 61 6
25873735 2015
5
Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome. 6 61
25466283 2014
6
Late-onset nephrotic syndrome and severe cerebellar atrophy in Galloway-Mowat syndrome. 6 61
16217710 2005
7
CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592. 6
20531441 2010
8
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
9
New autosomal recessive cerebellar ataxia disorder in a large inbred Lebanese family. 6
11391656 2001
10
Neurological involvement in monogenic podocytopathies. 61
33791874 2021
11
Disruption of pathways regulated by Integrator complex in Galloway-Mowat syndrome due to WDR73 mutations. 61
33686175 2021
12
Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome. 61
33593823 2021
13
A patient diagnosed with Galloway-Mowat syndrome presenting with a rod-cone functional anomaly with electronegative dark-adapted ERGs. 61
33548032 2021
14
Crystal structure of the human PRPK-TPRKB complex. 61
33547416 2021
15
A substrate binding model for the KEOPS tRNA modifying complex. 61
33277478 2020
16
Congenital Nephrotic Syndrome in India in the Current Era: A Multicenter Case Series. 61
31655822 2020
17
Fetal phenotype of Galloway-Mowat syndrome 3 caused by a specific OSGEP variant. 61
31564459 2019
18
Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome. 61
31481669 2019
19
WDR73-related galloway mowat syndrome with collapsing glomerulopathy. 61
30315938 2019
20
Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature. 61
30975089 2019
21
Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype. 61
30558655 2018
22
Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome. 61
30427554 2018
23
Nephrological and urological complications of homozygous c.974G>A (p.Arg325Gln) OSGEP mutations. 61
30141175 2018
24
A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report. 61
30053862 2018
25
Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings. 61
29929488 2018
26
Nephrotic syndrome: Novel monogenic causes of Galloway-Mowat syndrome. 61
28890537 2017
27
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. 61
28805828 2017
28
Galloway-mowat syndrome - unusual form of nephrotic syndrome in adolescent. 61
28937085 2017
29
An Amish founder mutation disrupts a PI(3)P-WHAMM-Arp2/3 complex-driven autophagosomal remodeling pathway. 61
28720660 2017
30
Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome. 61
28280135 2017
31
WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family. 61
27983999 2017
32
Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene. 61
27001912 2016
33
Collapsing Glomerulopathy in a Child with Galloway-Mowat Syndrome. 61
27403357 2016
34
Infantile nephrotic syndrome with microcephaly and global developmental delay: the Galloway Mowat Syndrome. 61
22144119 2012
35
Galloway-Mowat syndrome: neurologic features in two sibling pairs. 61
22759691 2012
36
Diffuse mesangial sclerosis - Report of two cases. 61
23087559 2012
37
Infant Boy with Microcephaly Gastroesophageal Refl ux and Nephrotic Syndrome (Galloway-Mowat Syndrome): A Case Report. 61
24829636 2012
38
Galloway-Mowat syndrome: prenatal ultrasound and perinatal magnetic resonance imaging findings. 61
21791310 2011
39
Neuropathological homology in true Galloway-Mowat syndrome. 61
21233460 2011
40
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
41
Recurrence of Galloway Mowat syndrome and associated prenatal imaging findings. 61
19177459 2009
42
Analysis of genes encoding laminin beta2 and related proteins in patients with Galloway-Mowat syndrome. 61
18594871 2008
43
Galloway-Mowat syndrome. 61
18798594 2008
44
Collapsing glomerulopathy in Galloway-Mowat syndrome: a case report and review of the literature. 61
18276083 2008
45
Anesthetic management of a patient with Galloway-Mowat syndrome. 61
17897280 2007
46
Perinatal imaging findings of Galloway-Mowat syndrome. 61
18019379 2007
47
Recurrent Galloway Mowat syndrome associated with abnormal prenatal sonographic findings. 61
16719284 2006
48
Prenatal magnetic resonance imaging of Galloway-Mowat syndrome. 61
15966048 2005
49
Late-onset growth restriction in Galloway-Mowat syndrome: a case report. 61
15712336 2005
50
Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: an autosomal recessive syndrome. 61
15372515 2004

Variations for Galloway-Mowat Syndrome

ClinVar genetic disease variations for Galloway-Mowat Syndrome:

6 (show all 28)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WDR73 NM_032856.5(WDR73):c.703C>T (p.Gln235Ter) SNV Pathogenic 208465 rs797044992 GRCh37: 15:85188882-85188882
GRCh38: 15:84645651-84645651
2 WDR73 NM_032856.3(WDR73):c.400_401delAG (p.Trp136Alafs) Microsatellite Pathogenic 208466 rs767086146 GRCh37: 15:85189531-85189532
GRCh38: 15:84646300-84646301
3 WDR73 NM_032856.5(WDR73):c.1039C>T (p.His347Tyr) SNV Pathogenic 208467 rs754099015 GRCh37: 15:85186799-85186799
GRCh38: 15:84643568-84643568
4 WDR73 NM_032856.5(WDR73):c.68T>A (p.Leu23Gln) SNV Pathogenic 208468 rs797044993 GRCh37: 15:85196904-85196904
GRCh38: 15:84653673-84653673
5 WDR73 NM_032856.5(WDR73):c.940C>T (p.Gln314Ter) SNV Pathogenic 208469 rs797044994 GRCh37: 15:85186898-85186898
GRCh38: 15:84643667-84643667
6 WDR73 NM_032856.5(WDR73):c.287G>A (p.Arg96Lys) SNV Pathogenic 208470 rs797044995 GRCh37: 15:85191768-85191768
GRCh38: 15:84648537-84648537
7 WDR73 NM_032856.5(WDR73):c.888del (p.Phe296fs) Deletion Pathogenic 225244 rs869320712 GRCh37: 15:85186950-85186950
GRCh38: 15:84643719-84643719
8 WDR73 NM_032856.5(WDR73):c.129T>G (p.Tyr43Ter) SNV Pathogenic 162610 rs727502863 GRCh37: 15:85196014-85196014
GRCh38: 15:84652783-84652783
9 WDR73 NM_032856.5(WDR73):c.706_719dup (p.Ser240fs) Duplication Pathogenic 807718 rs1596050297 GRCh37: 15:85188865-85188866
GRCh38: 15:84645634-84645635
10 WDR73 NM_032856.5(WDR73):c.928G>T (p.Gly310Ter) SNV Pathogenic 1031003 GRCh37: 15:85186910-85186910
GRCh38: 15:84643679-84643679
11 WDR73 NM_032856.5(WDR73):c.1132dup (p.Arg378fs) Duplication Pathogenic 286528 rs747109506 GRCh37: 15:85186705-85186706
GRCh38: 15:84643474-84643475
12 WDR73 NM_032856.5(WDR73):c.699G>A (p.Trp233Ter) SNV Pathogenic 1034166 GRCh37: 15:85188886-85188886
GRCh38: 15:84645655-84645655
13 WDR73 NM_032856.5(WDR73):c.766dup (p.Arg256fs) Duplication Pathogenic/Likely pathogenic 162611 rs727502864 GRCh37: 15:85188818-85188819
GRCh38: 15:84645587-84645588
14 WDR73 NM_032856.5(WDR73):c.293T>C (p.Leu98Pro) SNV Likely pathogenic 242543 rs863223396 GRCh37: 15:85191180-85191180
GRCh38: 15:84647949-84647949
15 WDR73 NM_032856.5(WDR73):c.767G>A (p.Arg256Gln) SNV Likely pathogenic 635182 rs866551482 GRCh37: 15:85188818-85188818
GRCh38: 15:84645587-84645587
16 WDR73 NM_032856.5(WDR73):c.710dup (p.Gly238fs) Duplication Likely pathogenic 803115 rs1282630153 GRCh37: 15:85188874-85188875
GRCh38: 15:84645643-84645644
17 WDR73 NM_032856.5(WDR73):c.884G>A (p.Gly295Asp) SNV Likely pathogenic 804250 rs1596048227 GRCh37: 15:85186954-85186954
GRCh38: 15:84643723-84643723
18 WDR4 NM_018669.6(WDR4):c.454-2A>C SNV Likely pathogenic 619605 rs779449710 GRCh37: 21:44282506-44282506
GRCh38: 21:42862396-42862396
19 WDR73 NM_032856.5(WDR73):c.626G>A (p.Trp209Ter) SNV Likely pathogenic 985008 GRCh37: 15:85188959-85188959
GRCh38: 15:84645728-84645728
20 ZNF592 NM_014630.3(ZNF592):c.3136G>A (p.Gly1046Arg) SNV Uncertain significance 4 rs150829393 GRCh37: 15:85342440-85342440
GRCh38: 15:84799209-84799209
21 WDR73 NM_032856.5(WDR73):c.1132C>T (p.Arg378Cys) SNV Uncertain significance 1031002 GRCh37: 15:85186706-85186706
GRCh38: 15:84643475-84643475
22 WDR73 NM_032856.5(WDR73):c.99TGA[1] (p.Asp35del) Microsatellite Uncertain significance 1034165 GRCh37: 15:85196868-85196870
GRCh38: 15:84653637-84653639
23 ZNF592 NM_014630.3(ZNF592):c.2731G>A (p.Val911Ile) SNV Uncertain significance 548552 rs1211858750 GRCh37: 15:85341700-85341700
GRCh38: 15:84798469-84798469
24 ZNF592 NM_014630.3(ZNF592):c.2161C>T (p.Arg721Trp) SNV Uncertain significance 587477 rs746252249 GRCh37: 15:85328067-85328067
GRCh38: 15:84784836-84784836
25 WDR73 NM_032856.5(WDR73):c.926_943ATGGAACACGGAGCCAAG[1] (p.309_314DGTRSQ[1]) Microsatellite Benign 803114 rs11267906 GRCh37: 15:85186877-85186894
GRCh38: 15:84643646-84643663
26 ZNF592 NM_014630.3(ZNF592):c.2238A>G (p.Gln746=) SNV Benign 130839 rs2241645 GRCh37: 15:85333953-85333953
GRCh38: 15:84790722-84790722
27 ZNF592 NM_014630.3(ZNF592):c.2777G>A (p.Ser926Asn) SNV Benign 130840 rs8182086 GRCh37: 15:85341859-85341859
GRCh38: 15:84798628-84798628
28 ENG NM_000118.3(ENG):c.392C>T (p.Pro131Leu) SNV Benign 161232 rs139398993 GRCh37: 9:130588920-130588920
GRCh38: 9:127826641-127826641

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 9.1 TPRKB TP53RK OSGEPL1 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 metanephric glomerular visceral epithelial cell development GO:0072249 9.16 NPHS2 LAMB2
4 tRNA threonylcarbamoyladenosine modification GO:0002949 9.13 TPRKB OSGEPL1 OSGEP
5 tRNA processing GO:0008033 9.1 WDR4 TPRKB TP53RK OSGEPL1 OSGEP LAGE3

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 9.33 LAMB2 LAMA5 ACTN4
2 transferase activity, transferring acyl groups other than amino-acyl groups GO:0016747 8.96 OSGEPL1 OSGEP
3 N(6)-L-threonylcarbamoyladenine synthase activity GO:0061711 8.62 OSGEPL1 OSGEP

Sources for Galloway-Mowat Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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