MCID: GLL038
MIFTS: 37

Galloway-Mowat Syndrome 1

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

Aliases & Classifications for Galloway-Mowat Syndrome 1

MalaCards integrated aliases for Galloway-Mowat Syndrome 1:

Name: Galloway-Mowat Syndrome 1 57 75
Microcephaly, Hiatal Hernia, and Nephrotic Syndrome 57 75
Spinocerebellar Ataxia, Autosomal Recessive 5 13 73
Nephrosis-Neuronal Dysmigration Syndrome 57 75
Nephrosis-Microcephaly Syndrome 57 75
Galloway Syndrome 57 75
Gamos1 57 75
Camos 57 75
Scar5 59 75
Cerebellar Ataxia with Mental Retardation, Optic Atrophy, and Skin Abnormalities; Camos 57
Cerebellar Ataxia-Intellectual Disability-Optic Atrophy-Skin Abnormalities Syndrome 59
Cerebellar Ataxia with Mental Retardation, Optic Atrophy, and Skin Abnormalities 57
Cerebellar Ataxia with Mental Retardation Optic Atrophy Skin Abnormalities 75
Spinocerebellar Ataxia, Autosomal Recessive 5, Formerly; Scar5, Formerly 57
Spinocerebellar Ataxia, Autosomal Recessive 5, Formerly 57
Spinocerebellar Ataxia, Autosomal Recessive, 5 75
Galloway-Mowat Syndrome 75
Galloway Mowat Syndrome 73
Scar5, Formerly 57
Camos Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
camos syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
galloway-mowat syndrome 1:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Galloway-Mowat Syndrome 1

UniProtKB/Swiss-Prot : 75 Galloway-Mowat syndrome 1: A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Patients may die in early childhood. GAMOS1 inheritance is autosomal recessive.

MalaCards based summary : Galloway-Mowat Syndrome 1, also known as microcephaly, hiatal hernia, and nephrotic syndrome, is related to galloway-mowat syndrome and spinocerebellar ataxia autosomal recessive 5. An important gene associated with Galloway-Mowat Syndrome 1 is WDR73 (WD Repeat Domain 73). Affiliated tissues include skin, brain and eye, and related phenotypes are brain atrophy and intellectual disability

OMIM : 57 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)

Related Diseases for Galloway-Mowat Syndrome 1

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 2

Diseases related to Galloway-Mowat Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 galloway-mowat syndrome 30.8 WDR73 ZNF592
2 spinocerebellar ataxia autosomal recessive 5 11.5
3 galloway-mowat syndrome 2, x-linked 10.9
4 galloway-mowat syndrome 3 10.9
5 galloway-mowat syndrome 4 10.9
6 galloway-mowat syndrome 5 10.9

Graphical network of the top 20 diseases related to Galloway-Mowat Syndrome 1:



Diseases related to Galloway-Mowat Syndrome 1

Symptoms & Phenotypes for Galloway-Mowat Syndrome 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
ptosis
nystagmus
optic atrophy
strabismus
more
Neurologic Central Nervous System:
hyperreflexia
cerebellar atrophy
cerebral atrophy
mental retardation
delayed psychomotor development
more
Genitourinary Kidneys:
proteinuria
nephrotic syndrome
interstitial fibrosis
diffuse mesangial sclerosis
chronic renal insufficiency
more
Head And Neck Face:
micrognathia
small midface

Head And Neck Mouth:
wide mouth
high-arched palate

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

Skin Nails Hair Nails:
hypoplastic nails

Growth Weight:
low birth weight

Growth Other:
intrauterine growth retardation (iugr)

Abdomen Gastrointestinal:
hiatal hernia (in some patients)
feeding difficulties (in some patients)

Head And Neck Ears:
low-set ears
floppy ears
large ears

Growth Height:
short stature

Laboratory Abnormalities:
proteinuria
hypoalbuminemia

Skeletal Feet:
pes cavus
talipes equinovarus

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

Skeletal Hands:
camptodactyly
clenched hands
slender digits

Skeletal:
joint contractures

Skin Nails Hair Skin:
hypopigmentation

Head And Neck Nose:
large nose
small, pinched nose

Muscle Soft Tissue:
hypotonia, axial


Clinical features from OMIM:

251300

Human phenotypes related to Galloway-Mowat Syndrome 1:

59 32 (show top 50) (show all 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 brain atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0012444
2 intellectual disability 59 32 very rare (1%) Very frequent (99-80%) HP:0001249
3 seizures 59 32 very rare (1%) Frequent (79-30%) HP:0001250
4 ataxia 59 32 occasional (7.5%) Very frequent (99-80%) HP:0001251
5 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
6 spasticity 59 32 very rare (1%) Frequent (79-30%) HP:0001257
7 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
8 microcephaly 59 32 very rare (1%) Very frequent (99-80%) HP:0000252
9 optic atrophy 59 32 very rare (1%) Very frequent (99-80%) HP:0000648
10 renal insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0000083
11 nephrotic syndrome 59 32 frequent (33%) Frequent (79-30%) HP:0000100
12 aplasia/hypoplasia of the cerebellum 59 32 hallmark (90%) Very frequent (99-80%) HP:0007360
13 motor delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001270
14 abnormality of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000951
15 progressive extrapyramidal movement disorder 59 32 hallmark (90%) Very frequent (99-80%) HP:0007153
16 hypertelorism 32 HP:0000316
17 low-set ears 32 HP:0000369
18 high palate 32 HP:0000218
19 ptosis 32 HP:0000508
20 nystagmus 32 HP:0000639
21 hyperreflexia 32 HP:0001347
22 sleep disturbance 32 very rare (1%) HP:0002360
23 macrotia 32 HP:0000400
24 cataract 32 HP:0000518
25 global developmental delay 32 HP:0001263
26 delayed speech and language development 32 very rare (1%) HP:0000750
27 short stature 32 HP:0004322
28 proteinuria 32 very rare (1%) HP:0000093
29 spastic tetraplegia 32 occasional (7.5%) HP:0002510
30 micrognathia 32 HP:0000347
31 feeding difficulties 32 occasional (7.5%) HP:0011968
32 opacification of the corneal stroma 32 HP:0007759
33 strabismus 32 HP:0000486
34 epicanthus 32 HP:0000286
35 intrauterine growth retardation 32 HP:0001511
36 pes cavus 32 HP:0001761
37 dystonia 32 very rare (1%) HP:0001332
38 wide mouth 32 HP:0000154
39 microphthalmia 32 HP:0000568
40 small nail 32 HP:0001792
41 hypoplasia of the iris 32 HP:0007676
42 talipes equinovarus 32 HP:0001762
43 flat occiput 32 HP:0005469
44 midface retrusion 32 HP:0011800
45 slender finger 32 HP:0001238
46 oligohydramnios 32 HP:0001562
47 pachygyria 32 HP:0001302
48 hiatus hernia 32 HP:0002036
49 cerebellar atrophy 32 very rare (1%) HP:0001272
50 sloping forehead 32 HP:0000340

Drugs & Therapeutics for Galloway-Mowat Syndrome 1

Search Clinical Trials , NIH Clinical Center for Galloway-Mowat Syndrome 1

Genetic Tests for Galloway-Mowat Syndrome 1

Anatomical Context for Galloway-Mowat Syndrome 1

MalaCards organs/tissues related to Galloway-Mowat Syndrome 1:

41
Skin, Brain, Eye, Cerebellum, Kidney

Publications for Galloway-Mowat Syndrome 1

Articles related to Galloway-Mowat Syndrome 1:

(show all 31)
# Title Authors Year
1
Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings. ( 29929488 )
2018
2
Galloway-mowat syndrome - unusual form of nephrotic syndrome in adolescent. ( 28937085 )
2017
3
Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome. ( 28280135 )
2017
4
Nephrotic syndrome: Novel monogenic causes of Galloway-Mowat syndrome. ( 28890537 )
2017
5
Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene. ( 27001912 )
2016
6
Collapsing Glomerulopathy in a Child with Galloway-Mowat Syndrome. ( 27403357 )
2016
7
Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome. ( 25873735 )
2015
8
Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. ( 26070982 )
2015
9
Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome. ( 25466283 )
2014
10
Galloway-Mowat syndrome: neurologic features in two sibling pairs. ( 22759691 )
2012
11
Infant Boy with Microcephaly Gastroesophageal Refl ux and Nephrotic Syndrome (Galloway-Mowat Syndrome): A Case Report. ( 24829636 )
2012
12
Infantile nephrotic syndrome with microcephaly and global developmental delay: the Galloway Mowat Syndrome. ( 22144119 )
2012
13
Neuropathological homology in true Galloway-Mowat syndrome. ( 21233460 )
2011
14
Galloway-Mowat syndrome: prenatal ultrasound and perinatal magnetic resonance imaging findings. ( 21791310 )
2011
15
Galloway-Mowat syndrome: an early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review of literature. ( 20083416 )
2010
16
Recurrence of Galloway Mowat syndrome and associated prenatal imaging findings. ( 19177459 )
2009
17
Collapsing glomerulopathy in Galloway-Mowat syndrome: a case report and review of the literature. ( 18276083 )
2008
18
Galloway-Mowat syndrome. ( 18798594 )
2008
19
Analysis of genes encoding laminin beta2 and related proteins in patients with Galloway-Mowat syndrome. ( 18594871 )
2008
20
Anesthetic management of a patient with Galloway-Mowat syndrome. ( 17897280 )
2007
21
Perinatal imaging findings of Galloway-Mowat syndrome. ( 18019379 )
2007
22
Recurrent Galloway Mowat syndrome associated with abnormal prenatal sonographic findings. ( 16719284 )
2006
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
Prenatal magnetic resonance imaging of Galloway-Mowat syndrome. ( 15966048 )
2005
26
Microcephaly, cerebellar atrophy, and focal segmental glomerulosclerosis in two brothers: a possible mild form of Galloway-Mowat syndrome. ( 12693786 )
2003
27
Podocyte proteins in Galloway-Mowat syndrome. ( 11793093 )
2001
28
Galloway-Mowat syndrome: a glomerular basement membrane disorder? ( 11519896 )
2001
29
Late-onset nephrotic syndrome in galloway-mowat syndrome: a case report. ( 18212429 )
1999
30
Galloway-Mowat syndrome in Taiwan. ( 8533826 )
1995
31
Kidney in Galloway-Mowat syndrome: clinical spectrum with description of pathology. ( 8072253 )
1994

Variations for Galloway-Mowat Syndrome 1

ClinVar genetic disease variations for Galloway-Mowat Syndrome 1:

6
(show all 18)
# 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.129T> G (p.Tyr43Ter) single nucleotide variant Pathogenic rs727502863 GRCh38 Chromosome 15, 84652783: 84652783
3 WDR73 NM_032856.3(WDR73): c.766dupC (p.Arg256Profs) duplication Pathogenic rs727502864 GRCh37 Chromosome 15, 85188819: 85188819
4 WDR73 NM_032856.3(WDR73): c.766dupC (p.Arg256Profs) duplication Pathogenic rs727502864 GRCh38 Chromosome 15, 84645588: 84645588
5 WDR73 NM_032856.3(WDR73): c.703C> T (p.Gln235Ter) single nucleotide variant Pathogenic rs797044992 GRCh38 Chromosome 15, 84645651: 84645651
6 WDR73 NM_032856.3(WDR73): c.703C> T (p.Gln235Ter) single nucleotide variant Pathogenic rs797044992 GRCh37 Chromosome 15, 85188882: 85188882
7 WDR73 NM_032856.3(WDR73): c.400_401delAG (p.Trp136Alafs) deletion Pathogenic rs767086146 GRCh37 Chromosome 15, 85189531: 85189532
8 WDR73 NM_032856.3(WDR73): c.400_401delAG (p.Trp136Alafs) deletion Pathogenic rs767086146 GRCh38 Chromosome 15, 84646300: 84646301
9 WDR73 NM_032856.3(WDR73): c.1039C> T (p.His347Tyr) single nucleotide variant Pathogenic rs754099015 GRCh38 Chromosome 15, 84643568: 84643568
10 WDR73 NM_032856.3(WDR73): c.1039C> T (p.His347Tyr) single nucleotide variant Pathogenic rs754099015 GRCh37 Chromosome 15, 85186799: 85186799
11 WDR73 NM_032856.3(WDR73): c.68T> A (p.Leu23Gln) single nucleotide variant Likely pathogenic rs797044993 GRCh38 Chromosome 15, 84653673: 84653673
12 WDR73 NM_032856.3(WDR73): c.68T> A (p.Leu23Gln) single nucleotide variant Likely pathogenic rs797044993 GRCh37 Chromosome 15, 85196904: 85196904
13 WDR73 NM_032856.3(WDR73): c.940C> T (p.Gln314Ter) single nucleotide variant Pathogenic rs797044994 GRCh38 Chromosome 15, 84643667: 84643667
14 WDR73 NM_032856.3(WDR73): c.940C> T (p.Gln314Ter) single nucleotide variant Pathogenic rs797044994 GRCh37 Chromosome 15, 85186898: 85186898
15 WDR73 NM_032856.3(WDR73): c.287G> A (p.Arg96Lys) single nucleotide variant Pathogenic rs797044995 GRCh38 Chromosome 15, 84648537: 84648537
16 WDR73 NM_032856.3(WDR73): c.287G> A (p.Arg96Lys) single nucleotide variant Pathogenic rs797044995 GRCh37 Chromosome 15, 85191768: 85191768
17 WDR73 NM_032856.3(WDR73): c.888delT (p.Phe296Leufs) deletion Pathogenic rs869320712 GRCh37 Chromosome 15, 85186950: 85186950
18 WDR73 NM_032856.3(WDR73): c.888delT (p.Phe296Leufs) deletion Pathogenic rs869320712 GRCh38 Chromosome 15, 84643719: 84643719

Expression for Galloway-Mowat Syndrome 1

Search GEO for disease gene expression data for Galloway-Mowat Syndrome 1.

Pathways for Galloway-Mowat Syndrome 1

GO Terms for Galloway-Mowat Syndrome 1

Sources for Galloway-Mowat Syndrome 1

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