Galloway-Mowat Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: GLL032 MIFTS: 41	Galloway-Mowat Syndrome Categories: Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

Sources

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:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Neuronal diseases Nephrological diseases Eye diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the nervous system

Other congenital malformations of brain

Other reduction deformities of brain

Orphanet: ⁵⁸

Rare neurological diseases

Rare renal diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0080694

KEGG ³⁶ H01722

MeSH ⁴³ C537548

NCIt ⁴⁹ C132195

SNOMED-CT ⁶⁷ 72129700

MESH via Orphanet ⁴⁴ C537548

ICD10 via Orphanet ³³ Q04.3

UMLS via Orphanet ⁷² C0795949

Orphanet ⁵⁸ ORPHA2065

UMLS ⁷¹ C0795949

Sources

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...

Sources

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:

Sources

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%)

Sources

Drugs & Therapeutics for Galloway-Mowat Syndrome

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

Cochrane evidence based reviews: galloway mowat syndrome

Sources

Genetic Tests for Galloway-Mowat Syndrome

Genetic tests related to Galloway-Mowat Syndrome:

#	Genetic test	Affiliating Genes
1	Galloway-Mowat Syndrome ²⁹

Sources

Anatomical Context for Galloway-Mowat Syndrome

MalaCards organs/tissues related to Galloway-Mowat Syndrome:

⁴⁰

Brain, Kidney, Eye, Skin

Sources

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	Vodopiutz J...Zenker M	26123727	2015
2	Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. ⁶ ⁶¹	Jinks RN...Strauss KA	26070982	2015
3	Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome. ⁶ ⁶¹	Ben-Omran T...Tropepe V	25873735	2015
4	Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome. ⁶¹ ⁶	Colin E...Antignac C	25466283	2014
5	Late-onset nephrotic syndrome and severe cerebellar atrophy in Galloway-Mowat syndrome. ⁶¹ ⁶	Steiss JO...Hahn A	16217710	2005
6	CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592. ⁶	Nicolas E...Delague V	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	Delague V...Claustres M	12030328	2002
8	New autosomal recessive cerebellar ataxia disorder in a large inbred Lebanese family. ⁶	Megarbane A...Urtizberea A	11391656	2001
9	Congenital Nephrotic Syndrome in India in the Current Era: A Multicenter Case Series. ⁶¹	Sinha R...Mandal K	31655822	2020
10	Fetal phenotype of Galloway-Mowat syndrome 3 caused by a specific OSGEP variant. ⁶¹	Yang Y...Li DZ	31564459	2019
11	Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome. ⁶¹	Arrondel C...Mollet G	31481669	2019
12	WDR73-related galloway mowat syndrome with collapsing glomerulopathy. ⁶¹	El Younsi M...M'rad R	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	Domingo-Gallego A...Ars E	30975089	2019
14	Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype. ⁶¹	Lin PY...Tsai JD	30558655	2018
15	Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome. ⁶¹	Fujita A...Miyake N	30427554	2018
16	Mutations in WDR4 as a new cause of Galloway-Mowat syndrome. ⁶¹	Braun DA...Hildebrandt F	30079490	2018
17	Nephrological and urological complications of homozygous c.974G>A (p.Arg325Gln) OSGEP mutations. ⁶¹	Wang PZT...Filler G	30141175	2018
18	A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report. ⁶¹	Hyun HS...Cheong HI	30053862	2018
19	Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings. ⁶¹	Al-Rakan MA...Alfadhel M	29929488	2018
20	Nephrotic syndrome: Novel monogenic causes of Galloway-Mowat syndrome. ⁶¹	Carney EF	28890537	2017
21	Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. ⁶¹	Braun DA...Hildebrandt F	28805828	2017
22	Galloway-mowat syndrome - unusual form of nephrotic syndrome in adolescent. ⁶¹	Naidu GD...Gangadhar T	28937085	2017
23	An Amish founder mutation disrupts a PI(3)P-WHAMM-Arp2/3 complex-driven autophagosomal remodeling pathway. ⁶¹	Mathiowetz AJ...Campellone KG	28720660	2017
24	Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome. ⁶¹	Rosti RO...Gleeson JG	28280135	2017
25	WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family. ⁶¹	Jiang C...Wu L	27983999	2017
26	Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene. ⁶¹	Rosti RO...Gleeson JG	27001912	2016
27	Collapsing Glomerulopathy in a Child with Galloway-Mowat Syndrome. ⁶¹	Zeybek C...Gok F	27403357	2016
28	Infantile nephrotic syndrome with microcephaly and global developmental delay: the Galloway Mowat Syndrome. ⁶¹	Krishnamurthy S...Zenker M	22144119	2012
29	Galloway-Mowat syndrome: neurologic features in two sibling pairs. ⁶¹	Ekstrand JJ...Stafstrom CE	22759691	2012
30	Diffuse mesangial sclerosis - Report of two cases. ⁶¹	Vankalakunti M...Ballal SH	23087559	2012
31	Infant Boy with Microcephaly Gastroesophageal Refl ux and Nephrotic Syndrome (Galloway-Mowat Syndrome): A Case Report. ⁶¹	Malaki M...Rafeey M	24829636	2012
32	Galloway-Mowat syndrome: prenatal ultrasound and perinatal magnetic resonance imaging findings. ⁶¹	Chen CP...Wang W	21791310	2011
33	Neuropathological homology in true Galloway-Mowat syndrome. ⁶¹	Keith J...Robitaille Y	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	Pezzella M...Minetti C	20083416	2010
35	Recurrence of Galloway Mowat syndrome and associated prenatal imaging findings. ⁶¹	Horton AL...Strauss RA	19177459	2009
36	Analysis of genes encoding laminin beta2 and related proteins in patients with Galloway-Mowat syndrome. ⁶¹	Dietrich A...Zenker M	18594871	2008
37	Galloway-Mowat syndrome. ⁶¹	Akhtar N...Hafeez F	18798594	2008
38	Collapsing glomerulopathy in Galloway-Mowat syndrome: a case report and review of the literature. ⁶¹	Sartelet H...Doco-Fenzy M	18276083	2008
39	Anesthetic management of a patient with Galloway-Mowat syndrome. ⁶¹	Bailey A...Georges L	17897280	2007
40	Perinatal imaging findings of Galloway-Mowat syndrome. ⁶¹	Chen CP...Wang W	18019379	2007
41	Recurrent Galloway Mowat syndrome associated with abnormal prenatal sonographic findings. ⁶¹	Chen CP...Wang W	16719284	2006
42	Prenatal magnetic resonance imaging of Galloway-Mowat syndrome. ⁶¹	Chen CP...Wang W	15966048	2005
43	Late-onset growth restriction in Galloway-Mowat syndrome: a case report. ⁶¹	Kang L...Lin SJ	15712336	2005
44	Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: an autosomal recessive syndrome. ⁶¹	Zenker M...Neumann LM	15372515	2004
45	Microcephaly, cerebellar atrophy, and focal segmental glomerulosclerosis in two brothers: a possible mild form of Galloway-Mowat syndrome. ⁶¹	Shiihara T...Hayasaka K	12693786	2003
46	Podocyte proteins in Galloway-Mowat syndrome. ⁶¹	Srivastava T...Alon US	11793093	2001
47	Galloway-Mowat syndrome: a glomerular basement membrane disorder? ⁶¹	Lin CC...Shih CS	11519896	2001
48	Diagnostic dilemmas in four infants with nephrotic syndrome, microcephaly and severe developmental delay. ⁶¹	de Vries BB...Winter RM	11310991	2001
49	A stepwise approach to the treatment of early onset nephrotic syndrome. ⁶¹	Licht C...Querfeld U	11045390	2000
50	Additional findings in Galloway-Mowat syndrome. ⁶¹	Kucharczuk K...Kaplan BS	10805469	2000

Sources

Genes for Galloway-Mowat Syndrome

Genes related to Galloway-Mowat Syndrome (8 elite genes):

(show all 19)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	WDR73	WD Repeat Domain 73	Protein Coding	388.61	Causative germline mutation (loss of function) ⁵⁸ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
2	OSGEP	O-Sialoglycoprotein Endopeptidase	Protein Coding	378.19	Causative germline mutation ⁵⁸ GeneCards inferred via : Disorders Publications Variants (show sections)
3	TP53RK	TP53 Regulating Kinase	Protein Coding	377.26	Causative germline mutation ⁵⁸ GeneCards inferred via : Disorders Publications Variants (show sections)
4	WDR4	WD Repeat Domain 4	Protein Coding	377.26	Causative germline mutation ⁵⁸ GeneCards inferred via : Disorders Publications Variants (show sections)
5	LAGE3	L Antigen Family Member 3	Protein Coding	377.05	Causative germline mutation ⁵⁸ GeneCards inferred via : Disorders Publications Variants (show sections)
6	NUP107	Nucleoporin 107	Protein Coding	376.92	Causative germline mutation ⁵⁸ GeneCards inferred via : Disorders Publications Variants (show sections)
7	NUP133	Nucleoporin 133	Protein Coding	376.29	Causative germline mutation (loss of function) ⁵⁸ GeneCards inferred via : Disorders Publications Variants (show sections)
8	TPRKB	TP53RK Binding Protein	Protein Coding	367.67	Causative germline mutation ⁵⁸ GeneCards inferred via : Disorders Variants (show sections)
9	ZNF592	Zinc Finger Protein 592	Protein Coding	8.11	GeneCards inferred via : Variants (show sections)
10	LOC107372315	OSGEP/APEX1 Bi-Directional Promoter Region	Biological Region	7.85	GeneCards inferred via : Variants (show sections)
11	ACTN4	Actinin Alpha 4	Protein Coding	7.27	GeneCards inferred via : Publications (show sections)
12	GON7	GON7 Subunit Of KEOPS Complex	Protein Coding	6.92	GeneCards inferred via : Publications (show sections)
13	LAMA5	Laminin Subunit Alpha 5	Protein Coding	6.92	GeneCards inferred via : Publications (show sections)
14	LAMB2	Laminin Subunit Beta 2	Protein Coding	6.92	GeneCards inferred via : Publications (show sections)
15	NPHS1	NPHS1 Adhesion Molecule, Nephrin	Protein Coding	6.92	GeneCards inferred via : Publications (show sections)
16	NPHS2	NPHS2 Stomatin Family Member, Podocin	Protein Coding	6.92	GeneCards inferred via : Publications (show sections)
17	PTPRU	Protein Tyrosine Phosphatase Receptor Type U	Protein Coding	6.92	GeneCards inferred via : Publications (show sections)
18	SYNPO	Synaptopodin	Protein Coding	6.92	GeneCards inferred via : Publications (show sections)
19	YRDC	YrdC N6-Threonylcarbamoyltransferase Domain Containing	Protein Coding	6.92	GeneCards inferred via : Publications (show sections)

Sources

Variations for Galloway-Mowat Syndrome

Sources

Expression for Galloway-Mowat Syndrome

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

Sources

Pathways for Galloway-Mowat Syndrome

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

#	Super pathways	Score	Top Affiliating Genes
1	tRNA processing ⁶⁵ Show member pathways 7-(3-amino-3-carboxypropyl)-wyosine biosynthesis ¹ Synthesis of wybutosine at G37 of tRNA(Phe) ⁶⁵ tRNA modification in the mitochondrion ⁶⁵ tRNA modification in the nucleus and cytosol ⁶⁵ tRNA processing in the mitochondrion ⁶⁵ tRNA processing in the nucleus ⁶⁵ wybutosine biosynthesis ¹	11.87	WDR4 TPRKB TP53RK OSGEP NUP133 NUP107
2	Amoebiasis ³⁶	11.34	LAMB2 LAMA5 ACTN4
3	Primary Focal Segmental Glomerulosclerosis FSGS ¹	10.97	SYNPO NPHS2 NPHS1 LAMB2 LAMA5 ACTN4
4	Nephrin/Neph1 signaling in the kidney podocyte ¹	10.74	NPHS2 NPHS1
5	Nephrin interactions ⁶⁵	10.6	NPHS1 ACTN4

Sources

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

Sources for Galloway-Mowat Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia