MCID: GLL032
MIFTS: 45

Galloway-Mowat Syndrome

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

Aliases & Classifications for Galloway-Mowat Syndrome

MalaCards integrated aliases for Galloway-Mowat Syndrome:

Name: Galloway-Mowat Syndrome 54 12 50 24 56 71 29 14
Galloway Mowat Syndrome 50 71 42 69
Galloway Syndrome 12 50 56 71
Nephrosis-Neuronal Dysmigration Syndrome 12 56 71
Microcephaly, Hiatal Hernia, and Nephrotic Syndrome 50 71
Spinocerebellar Ataxia, Autosomal Recessive 5 13 69
Nephrosis-Microcephaly Syndrome 12 71
Gamos 24 71
Cerebellar Ataxia with Mental Retardation Optic Atrophy Skin Abnormalities 71
Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type 50
Microcephaly, Hiatal Hernia and Nephrotic Syndrome 12
Spinocerebellar Ataxia, Autosomal Recessive, 5 71
Microcephaly-Hiatus Hernia-Nephrotic Syndrome 56
Nephrosis Neuronal Dysmigration Syndrome 50
Microcephaly Nephrosis Syndrome 50
Yoder Dystonia 24
Camos 71
Scar5 71

Characteristics:

Orphanet epidemiological data:

56
galloway-mowat syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable features
death in childhood may occur
not all patients have dysmorphic facial features
not all patients have renal involvement


HPO:

32
galloway-mowat syndrome:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Galloway-Mowat Syndrome

NIH Rare Diseases : 50 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 moved to 251300 and spinocerebellar ataxia autosomal recessive 5, and has symptoms including short stature, cognitive impairment and seizures. An important gene associated with Galloway-Mowat Syndrome is WDR73 (WD Repeat Domain 73), and among its related pathways/superpathways are Tight junction and Amoebiasis. Affiliated tissues include brain and skin, 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.

OMIM : 54
Galloway-Mowat syndrome is a rare autosomal recessive neurodegenerative disorder characterized by infantile onset of microcephaly and central nervous system abnormalities resulting in severely delayed psychomotor development. Brain imaging shows cerebellar atrophy and sometimes cerebral atrophy. More variable features include optic atrophy, movement disorders, seizures, and nephrotic syndrome (summary by Vodopiutz et al., 2015). (251300)

UniProtKB/Swiss-Prot : 71 Galloway-Mowat syndrome: A rare, autosomal recessive disease with onset in infancy, and characterized by microcephaly, central nervous system abnormalities resulting in severe neurological impairment and intellectual disability, and nephrotic syndrome. Most patients develop seizures and nephrotic syndrome late in childhood.

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

Graphical network of the top 20 diseases related to Galloway-Mowat Syndrome:



Diseases related to Galloway-Mowat Syndrome

Symptoms & Phenotypes for Galloway-Mowat Syndrome

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Skeletal:
joint contractures

Neurologic- Central Nervous System:
delayed psychomotor development
mental retardation
seizures (in some patients)
hyperreflexia
dilated ventricles
more
Head And Neck- Ears:
low-set ears
large ears
floppy ears

Genitourinary- Kidneys:
proteinuria
nephrotic syndrome
interstitial fibrosis
focal glomerulosclerosis
diffuse mesangial sclerosis
more
Head And Neck- Nose:
small, pinched nose
large nose

Skeletal- Hands:
camptodactyly
clenched hands
slender digits

Growth- Weight:
low birth weight

Growth- Other:
intrauterine growth retardation (iugr)

Abdomen- Gastroin testinal:
feeding difficulties (in some patients)
hiatal hernia (in some patients)

Head And Neck- Mouth:
high-arched palate
wide mouth

Skin Nails & Hair- Nails:
hypoplastic nails

Head And Neck- Eyes:
optic atrophy
nystagmus
strabismus
cataracts
ptosis
more
Laboratory- Abnormalities:
proteinuria
hypoalbuminemia

Head And Neck- Face:
micrognathia
small midface

Head And Neck- Head:
sloping forehead
microcephaly, postnatal
flat occiput

Skeletal- Feet:
talipes equinovarus
pes cavus

Skin Nails & Hair- Skin:
hypopigmentation

Prenatal Manifestations- Amniotic Fluid:
oligohydramnios

Muscle Soft Tissue:
hypotonia, axial


Clinical features from OMIM:

251300

Human phenotypes related to Galloway-Mowat Syndrome:

56 32 (show top 50) (show all 75)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 frequent (33%) Frequent (79-30%) HP:0004322
2 cognitive impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0100543
3 seizures 56 32 very rare (1%) Frequent (79-30%) HP:0001250
4 hypertonia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001276
5 microcephaly 56 32 very rare (1%) Very frequent (99-80%) HP:0000252
6 proteinuria 56 32 very rare (1%) Very frequent (99-80%) HP:0000093
7 micrognathia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000347
8 hypertelorism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000316
9 intrauterine growth retardation 56 32 frequent (33%) Frequent (79-30%) HP:0001511
10 premature birth 56 32 frequent (33%) Frequent (79-30%) HP:0001622
11 pachygyria 56 32 frequent (33%) Frequent (79-30%) HP:0001302
12 global developmental delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0001263
13 aqueductal stenosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002410
14 nephrotic syndrome 56 32 hallmark (90%) Very frequent (99-80%) HP:0000100
15 hypotelorism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000601
16 muscular hypotonia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001252
17 nephropathy 56 32 hallmark (90%) Very frequent (99-80%) HP:0000112
18 hiatus hernia 56 32 frequent (33%) Frequent (79-30%) HP:0002036
19 macrotia 56 32 frequent (33%) Frequent (79-30%) HP:0000400
20 adducted thumb 56 32 occasional (7.5%) Occasional (29-5%) HP:0001181
21 eeg abnormality 56 32 frequent (33%) Frequent (79-30%) HP:0002353
22 hemiplegia/hemiparesis 56 32 occasional (7.5%) Occasional (29-5%) HP:0004374
23 abnormality of immune system physiology 56 32 occasional (7.5%) Occasional (29-5%) HP:0010978
24 hypoplasia of the ear cartilage 56 32 hallmark (90%) Very frequent (99-80%) HP:0100720
25 camptodactyly of finger 56 32 occasional (7.5%) Occasional (29-5%) HP:0100490
26 abnormality of the intervertebral disk 56 32 occasional (7.5%) Occasional (29-5%) HP:0005108
27 optic atrophy 32 very rare (1%) HP:0000648
28 nystagmus 32 HP:0000639
29 dystonia 32 very rare (1%) HP:0001332
30 ataxia 32 occasional (7.5%) HP:0001251
31 strabismus 32 HP:0000486
32 wide mouth 32 HP:0000154
33 hyperreflexia 32 HP:0001347
34 spasticity 32 very rare (1%) HP:0001257
35 cerebral atrophy 32 very rare (1%) HP:0002059
36 ptosis 32 HP:0000508
37 low-set ears 32 HP:0000369
38 microphthalmia 32 HP:0000568
39 sloping forehead 32 HP:0000340
40 camptodactyly 32 HP:0012385
41 talipes equinovarus 32 HP:0001762
42 intellectual disability 32 very rare (1%) HP:0001249
43 hypoplasia of the corpus callosum 32 HP:0002079
44 pes cavus 32 HP:0001761
45 cataract 32 HP:0000518
46 cerebellar atrophy 32 very rare (1%) HP:0001272
47 narrow nasal ridge 32 HP:0000418
48 dandy-walker malformation 32 occasional (7.5%) HP:0001305
49 prominent nose 32 HP:0000448
50 midface retrusion 32 HP:0011800

MGI Mouse Phenotypes related to Galloway-Mowat Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 8.92 ACTN4 LAMA5 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:

id Genetic test Affiliating Genes
1 Galloway-Mowat Syndrome 29 24 WDR73

Anatomical Context for Galloway-Mowat Syndrome

MalaCards organs/tissues related to Galloway-Mowat Syndrome:

39
Brain, Skin

Publications for Galloway-Mowat Syndrome

Articles related to Galloway-Mowat Syndrome:

(show all 27)
id Title Authors Year
1
Galloway-mowat syndrome - unusual form of nephrotic syndrome in adolescent. ( 28937085 )
2017
2
Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome. ( 28280135 )
2017
3
Nephrotic syndrome: Novel monogenic causes of Galloway-Mowat syndrome. ( 28890537 )
2017
4
Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene. ( 27001912 )
2016
5
Collapsing Glomerulopathy in a Child with Galloway-Mowat Syndrome. ( 27403357 )
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
Galloway-Mowat syndrome: neurologic features in two sibling pairs. ( 22759691 )
2012
11
Infantile nephrotic syndrome with microcephaly and global developmental delay: the Galloway Mowat Syndrome. ( 22144119 )
2012
12
Galloway-Mowat syndrome: prenatal ultrasound and perinatal magnetic resonance imaging findings. ( 21791310 )
2011
13
Neuropathological homology in true Galloway-Mowat syndrome. ( 21233460 )
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
Collapsing glomerulopathy in Galloway-Mowat syndrome: a case report and review of the literature. ( 18276083 )
2008
17
Analysis of genes encoding laminin beta2 and related proteins in patients with Galloway-Mowat syndrome. ( 18594871 )
2008
18
Galloway-Mowat syndrome. ( 18798594 )
2008
19
Anesthetic management of a patient with Galloway-Mowat syndrome. ( 17897280 )
2007
20
Perinatal imaging findings of Galloway-Mowat syndrome. ( 18019379 )
2007
21
Recurrent Galloway Mowat syndrome associated with abnormal prenatal sonographic findings. ( 16719284 )
2006
22
Late-onset nephrotic syndrome and severe cerebellar atrophy in Galloway-Mowat syndrome. ( 16217710 )
2005
23
Late-onset growth restriction in Galloway-Mowat syndrome: a case report. ( 15712336 )
2005
24
Prenatal magnetic resonance imaging of Galloway-Mowat syndrome. ( 15966048 )
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
id 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

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

id Super pathways Score Top Affiliating Genes
1 11.39 ACTN4 SYNPO
2 10.94 ACTN4 LAMA5
3 10.79 ACTN4 LAMA5 NPHS2 SYNPO

GO Terms for Galloway-Mowat Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 cell-cell junction GO:0005911 8.96 ACTN4 NPHS2
2 Z disc GO:0030018 8.62 ACTN4 SYNPO

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

id Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 8.62 ACTN4 LAMA5

Sources for Galloway-Mowat Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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....