GAMOS1
MCID: GLL038
MIFTS: 40

Galloway-Mowat Syndrome 1 (GAMOS1)

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

Aliases & Classifications for Galloway-Mowat Syndrome 1

MalaCards integrated aliases for Galloway-Mowat Syndrome 1:

Name: Galloway-Mowat Syndrome 1 58 76 30 6
Microcephaly, Hiatal Hernia, and Nephrotic Syndrome 58 76
Spinocerebellar Ataxia, Autosomal Recessive 5 13 74
Nephrosis-Neuronal Dysmigration Syndrome 58 76
Nephrosis-Microcephaly Syndrome 58 76
Galloway Syndrome 58 76
Gamos1 58 76
Camos 58 76
Scar5 60 76
Cerebellar Ataxia with Mental Retardation, Optic Atrophy, and Skin Abnormalities; Camos 58
Cerebellar Ataxia-Intellectual Disability-Optic Atrophy-Skin Abnormalities Syndrome 60
Cerebellar Ataxia with Mental Retardation, Optic Atrophy, and Skin Abnormalities 58
Cerebellar Ataxia with Mental Retardation Optic Atrophy Skin Abnormalities 76
Spinocerebellar Ataxia, Autosomal Recessive 5, Formerly; Scar5, Formerly 58
Spinocerebellar Ataxia, Autosomal Recessive 5, Formerly 58
Spinocerebellar Ataxia, Autosomal Recessive, 5 76
Galloway-Mowat Syndrome 76
Galloway Mowat Syndrome 74
Scar5, Formerly 58
Camos Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
camos syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
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:

33
galloway-mowat syndrome 1:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Galloway-Mowat Syndrome 1

UniProtKB/Swiss-Prot : 76 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 galloway-mowat syndrome 2. 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 intellectual disability and ataxia

OMIM : 58 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)

Wikipedia : 77 Galloway Mowat syndrome is a very rare autosomal recessive genetic disorder, consisting of a variety of... more...

Related Diseases for Galloway-Mowat Syndrome 1

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

Human phenotypes related to Galloway-Mowat Syndrome 1:

60 33 (show top 50) (show all 67)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 very rare (1%) Very frequent (99-80%) HP:0001249
2 ataxia 60 33 occasional (7.5%) Very frequent (99-80%) HP:0001251
3 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
4 microcephaly 60 33 very rare (1%) Very frequent (99-80%) HP:0000252
5 optic atrophy 60 33 very rare (1%) Very frequent (99-80%) HP:0000648
6 aplasia/hypoplasia of the cerebellum 60 33 hallmark (90%) Very frequent (99-80%) HP:0007360
7 motor delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001270
8 abnormality of the skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000951
9 progressive extrapyramidal movement disorder 60 33 hallmark (90%) Very frequent (99-80%) HP:0007153
10 brain atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0012444
11 seizures 60 33 very rare (1%) Frequent (79-30%) HP:0001250
12 spasticity 60 33 very rare (1%) Frequent (79-30%) HP:0001257
13 dysarthria 60 33 frequent (33%) Frequent (79-30%) HP:0001260
14 renal insufficiency 60 33 frequent (33%) Frequent (79-30%) HP:0000083
15 nephrotic syndrome 60 33 frequent (33%) Frequent (79-30%) HP:0000100
16 spastic tetraplegia 33 occasional (7.5%) HP:0002510
17 feeding difficulties 33 occasional (7.5%) HP:0011968
18 dandy-walker malformation 33 occasional (7.5%) HP:0001305
19 sleep disturbance 33 very rare (1%) HP:0002360
20 delayed speech and language development 33 very rare (1%) HP:0000750
21 proteinuria 33 very rare (1%) HP:0000093
22 dystonia 33 very rare (1%) HP:0001332
23 cerebellar atrophy 33 very rare (1%) HP:0001272
24 cerebral atrophy 33 very rare (1%) HP:0002059
25 muscular hypotonia of the trunk 33 very rare (1%) HP:0008936
26 hypertelorism 33 HP:0000316
27 low-set ears 33 HP:0000369
28 high palate 33 HP:0000218
29 ptosis 33 HP:0000508
30 nystagmus 33 HP:0000639
31 hyperreflexia 33 HP:0001347
32 macrotia 33 HP:0000400
33 cataract 33 HP:0000518
34 global developmental delay 33 HP:0001263
35 short stature 33 HP:0004322
36 micrognathia 33 HP:0000347
37 opacification of the corneal stroma 33 HP:0007759
38 strabismus 33 HP:0000486
39 epicanthus 33 HP:0000286
40 intrauterine growth retardation 33 HP:0001511
41 pes cavus 33 HP:0001761
42 talipes equinovarus 33 HP:0001762
43 wide mouth 33 HP:0000154
44 microphthalmia 33 HP:0000568
45 small nail 33 HP:0001792
46 hypoplasia of the iris 33 HP:0007676
47 flat occiput 33 HP:0005469
48 midface retrusion 33 HP:0011800
49 slender finger 33 HP:0001238
50 oligohydramnios 33 HP:0001562

Symptoms via clinical synopsis from OMIM:

58
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

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

Genetic tests related to Galloway-Mowat Syndrome 1:

# Genetic test Affiliating Genes
1 Galloway-Mowat Syndrome 1 30

Anatomical Context for Galloway-Mowat Syndrome 1

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

42
Skin, Brain, Eye, Cerebellum, Kidney

Publications for Galloway-Mowat Syndrome 1

Articles related to Galloway-Mowat Syndrome 1:

(show all 40)
# 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
A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report. ( 30053862 )
2018
3
Mutations in WDR4 as a new cause of Galloway-Mowat syndrome. ( 30079490 )
2018
4
WDR73-related galloway mowat syndrome with collapsing glomerulopathy. ( 30315938 )
2018
5
Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome. ( 30427554 )
2018
6
Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype. ( 30558655 )
2018
7
Galloway-mowat syndrome - unusual form of nephrotic syndrome in adolescent. ( 28937085 )
2017
8
Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome. ( 28280135 )
2017
9
Nephrotic syndrome: Novel monogenic causes of Galloway-Mowat syndrome. ( 28890537 )
2017
10
Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene. ( 27001912 )
2016
11
Collapsing Glomerulopathy in a Child with Galloway-Mowat Syndrome. ( 27403357 )
2016
12
Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome. ( 25873735 )
2015
13
Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. ( 26070982 )
2015
14
Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome. ( 25466283 )
2014
15
Galloway-Mowat syndrome: neurologic features in two sibling pairs. ( 22759691 )
2012
16
Infant Boy with Microcephaly Gastroesophageal Refl ux and Nephrotic Syndrome (Galloway-Mowat Syndrome): A Case Report. ( 24829636 )
2012
17
Infantile nephrotic syndrome with microcephaly and global developmental delay: the Galloway Mowat Syndrome. ( 22144119 )
2012
18
Neuropathological homology in true Galloway-Mowat syndrome. ( 21233460 )
2011
19
Galloway-Mowat syndrome: prenatal ultrasound and perinatal magnetic resonance imaging findings. ( 21791310 )
2011
20
Galloway-Mowat syndrome: an early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review of literature. ( 20083416 )
2010
21
Recurrence of Galloway Mowat syndrome and associated prenatal imaging findings. ( 19177459 )
2009
22
Collapsing glomerulopathy in Galloway-Mowat syndrome: a case report and review of the literature. ( 18276083 )
2008
23
Galloway-Mowat syndrome. ( 18798594 )
2008
24
Analysis of genes encoding laminin beta2 and related proteins in patients with Galloway-Mowat syndrome. ( 18594871 )
2008
25
Anesthetic management of a patient with Galloway-Mowat syndrome. ( 17897280 )
2007
26
Perinatal imaging findings of Galloway-Mowat syndrome. ( 18019379 )
2007
27
Recurrent Galloway Mowat syndrome associated with abnormal prenatal sonographic findings. ( 16719284 )
2006
28
Late-onset growth restriction in Galloway-Mowat syndrome: a case report. ( 15712336 )
2005
29
Late-onset nephrotic syndrome and severe cerebellar atrophy in Galloway-Mowat syndrome. ( 16217710 )
2005
30
Prenatal magnetic resonance imaging of Galloway-Mowat syndrome. ( 15966048 )
2005
31
Microcephaly, cerebellar atrophy, and focal segmental glomerulosclerosis in two brothers: a possible mild form of Galloway-Mowat syndrome. ( 12693786 )
2003
32
Podocyte proteins in Galloway-Mowat syndrome. ( 11793093 )
2001
33
Galloway-Mowat syndrome: a glomerular basement membrane disorder? ( 11519896 )
2001
34
Additional findings in Galloway-Mowat syndrome. ( 10805469 )
2000
35
Late-onset nephrotic syndrome in galloway-mowat syndrome: a case report. ( 18212429 )
1999
36
Further case of Galloway-Mowat syndrome of abnormal gyral patterns and glomerulopathy. ( 9098497 )
1997
37
Galloway-Mowat syndrome in Taiwan. ( 8533826 )
1995
38
Microcephaly and early-onset nephrotic syndrome--confusion in Galloway-Mowat syndrome. ( 8747110 )
1995
39
Kidney in Galloway-Mowat syndrome: clinical spectrum with description of pathology. ( 8072253 )
1994
40
Galloway-Mowat syndrome of abnormal gyral patterns and glomerulopathy. ( 8213914 )
1993

Variations for Galloway-Mowat Syndrome 1

ClinVar genetic disease variations for Galloway-Mowat Syndrome 1:

6 (show all 28)
# 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.766dup (p.Arg256Profs) duplication Pathogenic rs727502864 GRCh37 Chromosome 15, 85188819: 85188819
4 WDR73 NM_032856.3(WDR73): c.766dup (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 GRCh37 Chromosome 15, 85188882: 85188882
6 WDR73 NM_032856.3(WDR73): c.703C> T (p.Gln235Ter) single nucleotide variant Pathogenic rs797044992 GRCh38 Chromosome 15, 84645651: 84645651
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 Likely pathogenic rs797044995 GRCh38 Chromosome 15, 84648537: 84648537
16 WDR73 NM_032856.3(WDR73): c.287G> A (p.Arg96Lys) single nucleotide variant Likely pathogenic rs797044995 GRCh37 Chromosome 15, 85191768: 85191768
17 ZNF592 NM_014630.2(ZNF592): c.3136G> A (p.Gly1046Arg) single nucleotide variant Uncertain significance rs150829393 GRCh37 Chromosome 15, 85342440: 85342440
18 ZNF592 NM_014630.2(ZNF592): c.3136G> A (p.Gly1046Arg) single nucleotide variant Uncertain significance rs150829393 GRCh38 Chromosome 15, 84799209: 84799209
19 ZNF592 NM_014630.2(ZNF592): c.2238A> G (p.Gln746=) single nucleotide variant Benign/Likely benign rs2241645 GRCh37 Chromosome 15, 85333953: 85333953
20 ZNF592 NM_014630.2(ZNF592): c.2238A> G (p.Gln746=) single nucleotide variant Benign/Likely benign rs2241645 GRCh38 Chromosome 15, 84790722: 84790722
21 ZNF592 NM_014630.2(ZNF592): c.2777G> A (p.Ser926Asn) single nucleotide variant Benign/Likely benign rs8182086 GRCh37 Chromosome 15, 85341859: 85341859
22 ZNF592 NM_014630.2(ZNF592): c.2777G> A (p.Ser926Asn) single nucleotide variant Benign/Likely benign rs8182086 GRCh38 Chromosome 15, 84798628: 84798628
23 WDR73 NM_032856.3(WDR73): c.888delT (p.Phe296Leufs) deletion Pathogenic rs869320712 GRCh37 Chromosome 15, 85186950: 85186950
24 WDR73 NM_032856.3(WDR73): c.888delT (p.Phe296Leufs) deletion Pathogenic rs869320712 GRCh38 Chromosome 15, 84643719: 84643719
25 ZNF592 NM_014630.2(ZNF592): c.2731G> A (p.Val911Ile) single nucleotide variant Uncertain significance rs1211858750 GRCh37 Chromosome 15, 85341700: 85341700
26 ZNF592 NM_014630.2(ZNF592): c.2731G> A (p.Val911Ile) single nucleotide variant Uncertain significance rs1211858750 GRCh38 Chromosome 15, 84798469: 84798469
27 ZNF592 NM_014630.2(ZNF592): c.2161C> T (p.Arg721Trp) single nucleotide variant Uncertain significance GRCh38 Chromosome 15, 84784836: 84784836
28 ZNF592 NM_014630.2(ZNF592): c.2161C> T (p.Arg721Trp) single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 85328067: 85328067

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....