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

MCID: GLL032 MIFTS: 46	Galloway-Mowat Syndrome Categories: Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
Genes Variations 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 ²⁰ ⁵⁸ ³⁶ ²⁹ ⁶ ¹⁵ ³⁹

Galloway Mowat Syndrome ⁷⁴ ²⁰ ⁴⁴ ⁷¹

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:

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 ⁴⁴ C537548

NCIt ⁵⁰ C132195

SNOMED-CT ⁶⁷ 721297008

MESH via Orphanet ⁴⁵ 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 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 Primary Focal Segmental Glomerulosclerosis FSGS. 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.

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 : 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 73)

#	Related Disease	Score	Top Affiliating Genes
1	galloway-mowat syndrome 3	33.4	OSGEP LOC107372315
2	galloway-mowat syndrome 1	33.3	ZNF592 WDR73 WDR4 TPRKB LAGE3 GON7
3	galloway-mowat syndrome 2	32.9	WDR73 TPRKB TP53RK OSGEP LAGE3 GON7
4	nephrotic syndrome	31.6	WDR73 SYNPO NUP133 NUP107 NPHS2 NPHS1
5	microcephaly	31.5	WDR73 WDR4 TPRKB TP53RK OSGEP NUP133
6	proteinuria, chronic benign	31.2	SYNPO NPHS2 NPHS1 ACTN4
7	spinocerebellar ataxia autosomal recessive 5	31.2	ZNF592 WDR73
8	focal segmental glomerulosclerosis	31.1	SYNPO PTPRU NUP107 NPHS2 NPHS1 ACTN4
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	pierson syndrome	30.7	NPHS2 NPHS1 LAMA5 ACTN4
13	diffuse mesangial sclerosis	30.6	NPHS2 NPHS1
14	end stage renal disease	30.2	NPHS2 NPHS1 ACTN4
15	galloway-mowat syndrome 5	11.9
16	galloway-mowat syndrome 4	11.9
17	galloway-mowat syndrome 2, x-linked	11.8
18	galloway-mowat syndrome 6	11.8
19	galloway-mowat syndrome 7	11.8
20	galloway-mowat syndrome 8	11.8
21	polymicrogyria	11.3
22	autosomal recessive disease	10.7
23	hernia, hiatus	10.5
24	genetic nephrotic syndrome	10.4	NPHS2 NPHS1
25	oligomeganephronia	10.4	NPHS2 NPHS1 ACTN4
26	focal segmental glomerulosclerosis 2	10.4	NPHS2 NPHS1 ACTN4
27	alacrima, achalasia, and mental retardation syndrome	10.4
28	pathologic nystagmus	10.4
29	hypotonia	10.4
30	stromme syndrome	10.4	NUP133 NUP107
31	bladder calculus	10.4	WDR73 TPRKB TP53RK OSGEP LAGE3
32	nephrotic syndrome, type 1	10.4	NPHS2 NPHS1 ACTN4
33	lower urinary tract calculus	10.4	WDR73 TPRKB TP53RK OSGEP LAGE3
34	kidney hypertrophy	10.4	SYNPO NPHS2 NPHS1
35	congenital syphilis	10.3	NPHS2 NPHS1
36	focal segmental glomerulosclerosis 1	10.3	NUP107 NPHS2 NPHS1 ACTN4
37	hypoparathyroidism, sensorineural deafness, and renal disease	10.3	NPHS2 NPHS1 ACTN4
38	acute proliferative glomerulonephritis	10.3	SYNPO NPHS2 NPHS1
39	crescentic glomerulonephritis	10.3	SYNPO NPHS2 ACTN4
40	lipoid nephrosis	10.3	SYNPO NPHS2 NPHS1 ACTN4
41	frasier syndrome	10.3	WDR73 NUP107 NPHS2 NPHS1 ACTN4
42	wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome	10.3	NPHS2 NPHS1 ACTN4
43	nephrosclerosis	10.3	SYNPO NPHS2 NPHS1
44	nephrotic syndrome, type 10	10.3	NPHS2 NPHS1
45	lissencephaly	10.3	WDR4 TPRKB OSGEP NUP133 LAGE3
46	nail-patella syndrome	10.3	WDR73 SYNPO NPHS2 NPHS1 ACTN4
47	denys-drash syndrome	10.3	SYNPO 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:

Sources

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%)

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 63)

#	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. ⁶¹ ⁶	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. ⁶ ⁶¹	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	Crystal structure of the human PRPK-TPRKB complex. ⁶¹	Li J...Dong Z	33547416	2021
10	A patient diagnosed with Galloway-Mowat syndrome presenting with a rod-cone functional anomaly with electronegative dark-adapted ERGs. ⁶¹	Racine J...Golden R	33548032	2021
11	Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome. ⁶¹	Mann N...Hildebrandt F	33593823	2021
12	A substrate binding model for the KEOPS tRNA modifying complex. ⁶¹	Beenstock J...Sicheri F	33277478	2020
13	Congenital Nephrotic Syndrome in India in the Current Era: A Multicenter Case Series. ⁶¹	Sinha R...Mandal K	31655822	2020
14	Fetal phenotype of Galloway-Mowat syndrome 3 caused by a specific OSGEP variant. ⁶¹	Yang Y...Li DZ	31564459	2019
15	Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome. ⁶¹	Arrondel C...Mollet G	31481669	2019
16	WDR73-related galloway mowat syndrome with collapsing glomerulopathy. ⁶¹	El Younsi M...M'rad R	30315938	2019
17	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
18	Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype. ⁶¹	Lin PY...Tsai JD	30558655	2018
19	Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome. ⁶¹	Fujita A...Miyake N	30427554	2018
20	Mutations in WDR4 as a new cause of Galloway-Mowat syndrome. ⁶¹	Braun DA...Hildebrandt F	30079490	2018
21	Nephrological and urological complications of homozygous c.974G>A (p.Arg325Gln) OSGEP mutations. ⁶¹	Wang PZT...Filler G	30141175	2018
22	A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report. ⁶¹	Hyun HS...Cheong HI	30053862	2018
23	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
24	Nephrotic syndrome: Novel monogenic causes of Galloway-Mowat syndrome. ⁶¹	Carney EF	28890537	2017
25	Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. ⁶¹	Braun DA...Hildebrandt F	28805828	2017
26	Galloway-mowat syndrome - unusual form of nephrotic syndrome in adolescent. ⁶¹	Naidu GD...Gangadhar T	28937085	2017
27	An Amish founder mutation disrupts a PI(3)P-WHAMM-Arp2/3 complex-driven autophagosomal remodeling pathway. ⁶¹	Mathiowetz AJ...Campellone KG	28720660	2017
28	Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome. ⁶¹	Rosti RO...Gleeson JG	28280135	2017
29	WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family. ⁶¹	Jiang C...Wu L	27983999	2017
30	Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene. ⁶¹	Rosti RO...Gleeson JG	27001912	2016
31	Collapsing Glomerulopathy in a Child with Galloway-Mowat Syndrome. ⁶¹	Zeybek C...Gok F	27403357	2016
32	Infantile nephrotic syndrome with microcephaly and global developmental delay: the Galloway Mowat Syndrome. ⁶¹	Krishnamurthy S...Zenker M	22144119	2012
33	Galloway-Mowat syndrome: neurologic features in two sibling pairs. ⁶¹	Ekstrand JJ...Stafstrom CE	22759691	2012
34	Diffuse mesangial sclerosis - Report of two cases. ⁶¹	Vankalakunti M...Ballal SH	23087559	2012
35	Infant Boy with Microcephaly Gastroesophageal Refl ux and Nephrotic Syndrome (Galloway-Mowat Syndrome): A Case Report. ⁶¹	Malaki M...Rafeey M	24829636	2012
36	Galloway-Mowat syndrome: prenatal ultrasound and perinatal magnetic resonance imaging findings. ⁶¹	Chen CP...Wang W	21791310	2011
37	Neuropathological homology in true Galloway-Mowat syndrome. ⁶¹	Keith J...Robitaille Y	21233460	2011
38	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
39	Recurrence of Galloway Mowat syndrome and associated prenatal imaging findings. ⁶¹	Horton AL...Strauss RA	19177459	2009
40	Analysis of genes encoding laminin beta2 and related proteins in patients with Galloway-Mowat syndrome. ⁶¹	Dietrich A...Zenker M	18594871	2008
41	Galloway-Mowat syndrome. ⁶¹	Akhtar N...Hafeez F	18798594	2008
42	Collapsing glomerulopathy in Galloway-Mowat syndrome: a case report and review of the literature. ⁶¹	Sartelet H...Doco-Fenzy M	18276083	2008
43	Anesthetic management of a patient with Galloway-Mowat syndrome. ⁶¹	Bailey A...Georges L	17897280	2007
44	Perinatal imaging findings of Galloway-Mowat syndrome. ⁶¹	Chen CP...Wang W	18019379	2007
45	Recurrent Galloway Mowat syndrome associated with abnormal prenatal sonographic findings. ⁶¹	Chen CP...Wang W	16719284	2006
46	Prenatal magnetic resonance imaging of Galloway-Mowat syndrome. ⁶¹	Chen CP...Wang W	15966048	2005
47	Late-onset growth restriction in Galloway-Mowat syndrome: a case report. ⁶¹	Kang L...Lin SJ	15712336	2005
48	Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: an autosomal recessive syndrome. ⁶¹	Zenker M...Neumann LM	15372515	2004
49	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
50	Podocyte proteins in Galloway-Mowat syndrome. ⁶¹	Srivastava T...Alon US	11793093	2001

Sources

Genes for Galloway-Mowat Syndrome

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

(show all 47)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	WDR73	WD Repeat Domain 73	Protein Coding	822.89	Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	25466283
2	WDR4	WD Repeat Domain 4	Protein Coding	407.9	Causative germline mutation ⁵⁸ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
3	OSGEP	O-Sialoglycoprotein Endopeptidase	Protein Coding	386.11	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
4	LAGE3	L Antigen Family Member 3	Protein Coding	385.3	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
5	TP53RK	TP53 Regulating Kinase	Protein Coding	385.25	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
6	NUP107	Nucleoporin 107	Protein Coding	384.45	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
7	NUP133	Nucleoporin 133	Protein Coding	383.2	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
8	TPRKB	TP53RK Binding Protein	Protein Coding	376.04	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)
9	GON7	GON7 Subunit Of KEOPS Complex	Protein Coding	15.22	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
10	YRDC	YrdC N6-Threonylcarbamoyltransferase Domain Containing	Protein Coding	14.23	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
11	ACTN4	Actinin Alpha 4	Protein Coding	13.76	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
12	ZNF592	Zinc Finger Protein 592	Protein Coding	13.44	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
13	NPHS1	NPHS1 Adhesion Molecule, Nephrin	Protein Coding	13.12	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
14	NPHS2	NPHS2 Stomatin Family Member, Podocin	Protein Coding	13.11	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
15	SYNPO	Synaptopodin	Protein Coding	12.95	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
16	LAMA5	Laminin Subunit Alpha 5	Protein Coding	12.57	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
17	PTPRU	Protein Tyrosine Phosphatase Receptor Type U	Protein Coding	11.61	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
18	LOC107372315	OSGEP/APEX1 Bi-Directional Promoter Region	Biological Region	8.04	GeneCards inferred via : Variants (show sections)
19	ENG	Endoglin	Protein Coding	7.24	GeneCards inferred via : Variants (show sections)
20	OSGEPL1	O-Sialoglycoprotein Endopeptidase Like 1	Protein Coding	7.19	DISEASES inferred ¹⁵
21	LAMB2	Laminin Subunit Beta 2	Protein Coding	7.15	GeneCards inferred via : Publications (show sections)
22	WHAMM	WASP Homolog Associated With Actin, Golgi Membranes And Microtubules	Protein Coding	7.02	DISEASES inferred ¹⁵
23	TBCK	TBC1 Domain Containing Kinase	Protein Coding	6.6	DISEASES inferred ¹⁵
24	PLCE1	Phospholipase C Epsilon 1	Protein Coding	6.24	DISEASES inferred ¹⁵
25	NUP93	Nucleoporin 93	Protein Coding	6.1	DISEASES inferred ¹⁵
26	NUP205	Nucleoporin 205	Protein Coding	6.04	DISEASES inferred ¹⁵
27	NXF5	Nuclear RNA Export Factor 5	Protein Coding	5.94	DISEASES inferred ¹⁵
28	LMX1B	LIM Homeobox Transcription Factor 1 Beta	Protein Coding	5.83	DISEASES inferred ¹⁵
29	SMARCAL1	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A Like 1	Protein Coding	5.8	DISEASES inferred ¹⁵
30	PTPRO	Protein Tyrosine Phosphatase Receptor Type O	Protein Coding	5.78	DISEASES inferred ¹⁵
31	TMEM187	Transmembrane Protein 187	Protein Coding	5.76	DISEASES inferred ¹⁵
32	ITGA3	Integrin Subunit Alpha 3	Protein Coding	5.72	DISEASES inferred ¹⁵
33	PRDM15	PR/SET Domain 15	Protein Coding	5.65	DISEASES inferred ¹⁵
34	TUBB4B	Tubulin Beta 4B Class IVb	Protein Coding	5.62	DISEASES inferred ¹⁵
35	WDR62	WD Repeat Domain 62	Protein Coding	5.53	DISEASES inferred ¹⁵
36	MSTO1	Misato Mitochondrial Distribution And Morphology Regulator 1	Protein Coding	5.5	DISEASES inferred ¹⁵
37	PMF1-BGLAP	PMF1-BGLAP Readthrough	Protein Coding	5.44	DISEASES inferred ¹⁵
38	EOGT	EGF Domain Specific O-Linked N-Acetylglucosamine Transferase	Protein Coding	5.44	DISEASES inferred ¹⁵
39	WDR45	WD Repeat Domain 45	Protein Coding	5.41	DISEASES inferred ¹⁵
40	WDR81	WD Repeat Domain 81	Protein Coding	5.35	DISEASES inferred ¹⁵
41	CD2AP	CD2 Associated Protein	Protein Coding	5.28	DISEASES inferred ¹⁵
42	TEX14	Testis Expressed 14, Intercellular Bridge Forming Factor	Protein Coding	5.17	DISEASES inferred ¹⁵
43	ARHGAP31	Rho GTPase Activating Protein 31	Protein Coding	5.15	DISEASES inferred ¹⁵
44	PMF1	Polyamine Modulated Factor 1	Protein Coding	5.14	DISEASES inferred ¹⁵
45	ARHGAP24	Rho GTPase Activating Protein 24	Protein Coding	5.11	DISEASES inferred ¹⁵
46	LRRC7	Leucine Rich Repeat Containing 7	Protein Coding	5.1	DISEASES inferred ¹⁵
47	INF2	Inverted Formin 2	Protein Coding	5.08	DISEASES inferred ¹⁵

Sources

Variations for Galloway-Mowat Syndrome

ClinVar genetic disease variations for Galloway-Mowat Syndrome:

⁶ (show all 22)

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

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	11.54	WDR4 TPRKB TP53RK OSGEP NUP133 NUP107
2	Primary Focal Segmental Glomerulosclerosis FSGS ¹	11.22	SYNPO NPHS2 NPHS1 LAMA5 ACTN4
3	Nephrin/Neph1 signaling in the kidney podocyte ¹	10.67	NPHS2 NPHS1
4	Nephrin interactions ⁶⁵	10.5	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	nuclear pore outer ring	GO:0031080	9.16	NUP133 NUP107
2	EKC/KEOPS complex	GO:0000408	9.1	TPRKB TP53RK OSGEPL1 OSGEP LAGE3 GON7
3	slit diaphragm	GO:0036057	8.96	NPHS2 NPHS1

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	9.26	NUP133 NUP107
2	tRNA threonylcarbamoyladenosine metabolic process	GO:0070525	9.16	TP53RK LAGE3
3	tRNA threonylcarbamoyladenosine modification	GO:0002949	9.13	TPRKB OSGEPL1 OSGEP
4	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	structural constituent of nuclear pore	GO:0017056	9.16	NUP133 NUP107
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

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 GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

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 MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

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