GAMOS1
MCID: GLL038
MIFTS: 42

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 57 12 72 29 6 15
Galloway Syndrome 57 12 72 6
Nephrosis-Neuronal Dysmigration Syndrome 57 12 72
Nephrosis-Microcephaly Syndrome 57 12 72
Microcephaly, Hiatal Hernia, and Nephrotic Syndrome 57 72
Gamos1 57 72
Camos 57 72
Scar5 58 72
Cerebellar Ataxia with Mental Retardation, Optic Atrophy, and Skin Abnormalities; Camos 57
Cerebellar Ataxia-Intellectual Disability-Optic Atrophy-Skin Abnormalities Syndrome 58
Cerebellar Ataxia with Mental Retardation, Optic Atrophy, and Skin Abnormalities 57
Cerebellar Ataxia with Mental Retardation Optic Atrophy Skin Abnormalities 72
Spinocerebellar Ataxia, Autosomal Recessive 5, Formerly; Scar5, Formerly 57
Spinocerebellar Ataxia, Autosomal Recessive 5, Formerly 57
Microcephaly, Hiatal Hernia and Nephrotic Syndrome 12
Spinocerebellar Ataxia, Autosomal Recessive, 5 72
Spinocerebellar Ataxia, Autosomal Recessive 5 70
Galloway-Mowat Syndrome 72
Galloway Mowat Syndrome 70
Scar5, Formerly 57
Camos Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
camos syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
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:

31
galloway-mowat syndrome 1:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


Summaries for Galloway-Mowat Syndrome 1

UniProtKB/Swiss-Prot : 72 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 galloway syndrome, is related to spinocerebellar ataxia autosomal recessive 5 and galloway-mowat syndrome 2. An important gene associated with Galloway-Mowat Syndrome 1 is WDR73 (WD Repeat Domain 73), and among its related pathways/superpathways is tRNA processing. Affiliated tissues include skin, eye and bone, and related phenotypes are intellectual disability and ataxia

Disease Ontology : 12 A Galloway-Mowat syndrome that has material basis in homozygous mutation in the WDR73 gene on chromosome 15q25.

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) (Updated 20-May-2021)

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 6 Galloway-Mowat Syndrome 7
Galloway-Mowat Syndrome 8 Galloway-Mowat Syndrome 2

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

(show top 50) (show all 63)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia autosomal recessive 5 31.5 ZNF592 WDR73
2 galloway-mowat syndrome 2 31.3 WDR73 TPRKB LAGE3 GON7
3 galloway-mowat syndrome 30.0 ZNF592 WDR73 WDR4 TPRKB LAGE3 GON7
4 autosomal recessive congenital cerebellar ataxia 29.8 ZNF592 WDR73
5 primary microcephaly 29.4 TPRKB LAGE3
6 nephrotic syndrome 29.0 WDR73 TPRKB LAGE3
7 microcephaly 28.7 WDR73 WDR4 TPRKB LAGE3
8 polymicrogyria 11.3
9 galloway-mowat syndrome 2, x-linked 10.9
10 galloway-mowat syndrome 3 10.9
11 galloway-mowat syndrome 4 10.9
12 galloway-mowat syndrome 5 10.9
13 galloway-mowat syndrome 6 10.9
14 galloway-mowat syndrome 7 10.9
15 galloway-mowat syndrome 8 10.9
16 osteoporosis 10.6
17 bone mineral density quantitative trait locus 8 10.6
18 bone mineral density quantitative trait locus 15 10.6
19 hernia, hiatus 10.5
20 proteinuria, chronic benign 10.5
21 focal segmental glomerulosclerosis 10.5
22 alacrima, achalasia, and mental retardation syndrome 10.4
23 pathologic nystagmus 10.4
24 oligohydramnios 10.3
25 hypothyroidism 10.3
26 pachygyria 10.3
27 glomerular disease 10.3
28 gastroesophageal reflux 10.1
29 developmental dysplasia of the hip 1 10.1
30 volvulus of midgut 10.1
31 nephrotic syndrome, type 2 10.1
32 pierson syndrome 10.1
33 nephrotic syndrome, type 8 10.1
34 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.1
35 congenital hypothyroidism 10.1
36 hereditary ataxia 10.1
37 porencephaly 10.1
38 cerebellar hypoplasia 10.1
39 microphthalmia 10.1
40 myopia 10.1
41 epilepsy 10.1
42 encephalomalacia 10.1
43 end stage renal disease 10.1
44 refractive error 10.1
45 diffuse mesangial sclerosis 10.1
46 cerebral atrophy 10.1
47 encephalopathy 10.1
48 autosomal recessive disease 10.0
49 arterial calcification, generalized, of infancy, 1 10.0
50 3-methylglutaconic aciduria, type iii 10.0

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:

58 31 (show top 50) (show all 69)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 very rare (1%) Very frequent (99-80%) HP:0001249
2 ataxia 58 31 occasional (7.5%) Very frequent (99-80%) HP:0001251
3 microcephaly 58 31 very rare (1%) Very frequent (99-80%) HP:0000252
4 optic atrophy 58 31 very rare (1%) Very frequent (99-80%) HP:0000648
5 motor delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001270
6 aplasia/hypoplasia of the cerebellum 58 31 hallmark (90%) Very frequent (99-80%) HP:0007360
7 abnormality of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000951
8 progressive extrapyramidal movement disorder 58 31 hallmark (90%) Very frequent (99-80%) HP:0007153
9 hypotonia 31 hallmark (90%) HP:0001252
10 spasticity 58 31 very rare (1%) Frequent (79-30%) HP:0001257
11 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
12 renal insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0000083
13 nephrotic syndrome 58 31 frequent (33%) Frequent (79-30%) HP:0000100
14 brain atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0012444
15 seizure 31 very rare (1%) HP:0001250
16 spastic tetraplegia 31 occasional (7.5%) HP:0002510
17 dandy-walker malformation 31 occasional (7.5%) HP:0001305
18 feeding difficulties 31 occasional (7.5%) HP:0011968
19 sleep disturbance 31 very rare (1%) HP:0002360
20 delayed speech and language development 31 very rare (1%) HP:0000750
21 proteinuria 31 very rare (1%) HP:0000093
22 dystonia 31 very rare (1%) HP:0001332
23 cerebellar atrophy 31 very rare (1%) HP:0001272
24 cerebral atrophy 31 very rare (1%) HP:0002059
25 muscular hypotonia of the trunk 31 very rare (1%) HP:0008936
26 seizures 58 Frequent (79-30%)
27 hyperreflexia 31 HP:0001347
28 ptosis 31 HP:0000508
29 nystagmus 31 HP:0000639
30 high palate 31 HP:0000218
31 muscular hypotonia 58 Very frequent (99-80%)
32 cataract 31 HP:0000518
33 global developmental delay 31 HP:0001263
34 hypertelorism 31 HP:0000316
35 macrotia 31 HP:0000400
36 short stature 31 HP:0004322
37 opacification of the corneal stroma 31 HP:0007759
38 strabismus 31 HP:0000486
39 intrauterine growth retardation 31 HP:0001511
40 micrognathia 31 HP:0000347
41 low-set ears 31 HP:0000369
42 epicanthus 31 HP:0000286
43 talipes equinovarus 31 HP:0001762
44 wide mouth 31 HP:0000154
45 hypoplasia of the iris 31 HP:0007676
46 microphthalmia 31 HP:0000568
47 flat occiput 31 HP:0005469
48 pes cavus 31 HP:0001761
49 midface retrusion 31 HP:0011800
50 pachygyria 31 HP:0001302

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
hyperreflexia
cerebellar atrophy
cerebral atrophy
mental retardation
seizures (in some patients)
more
Growth Height:
short stature

Laboratory Abnormalities:
proteinuria
hypoalbuminemia

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

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 Eyes:
ptosis
nystagmus
hypertelorism
optic atrophy
strabismus
more
Genitourinary Kidneys:
proteinuria
nephrotic syndrome
diffuse mesangial sclerosis
interstitial fibrosis
chronic renal insufficiency
more
Head And Neck Face:
micrognathia
small midface

Skeletal Feet:
talipes equinovarus
pes cavus

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 (Updated 20-May-2021)

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 29 WDR73

Anatomical Context for Galloway-Mowat Syndrome 1

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

40
Skin, Eye, Bone, Cerebellum, Brain, Kidney

Publications for Galloway-Mowat Syndrome 1

Articles related to Galloway-Mowat Syndrome 1:

(show all 21)
# Title Authors PMID Year
1
WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease. 6 57
26123727 2015
2
Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. 6 57
26070982 2015
3
Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome. 6 57
25873735 2015
4
Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome. 57 6
25466283 2014
5
CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592. 57 6
20531441 2010
6
Late-onset nephrotic syndrome and severe cerebellar atrophy in Galloway-Mowat syndrome. 57 6
16217710 2005
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. 57 6
12030328 2002
8
New autosomal recessive cerebellar ataxia disorder in a large inbred Lebanese family. 6 57
11391656 2001
9
Mutations in WDR4 as a new cause of Galloway-Mowat syndrome. 6
30079490 2018
10
Further case of Galloway-Mowat syndrome of abnormal gyral patterns and glomerulopathy. 57
9098497 1997
11
Galloway-Mowat syndrome in Taiwan. 57
8533826 1995
12
Microcephaly and congenital nephrotic syndrome owing to diffuse mesangial sclerosis: an autosomal recessive syndrome. 57
8182716 1994
13
Galloway-Mowat syndrome of abnormal gyral patterns and glomerulopathy. 57
8213914 1993
14
Congenital microcephaly, infantile spasms, psychomotor retardation, and nephrotic syndrome in two sibs. 57
3678281 1987
15
Nephrosis and disturbances of neuronal migration in male siblings--a new hereditary disorder? 57
3729522 1986
16
Pachygyria and congenital nephrosis disorder of migration and neuronal orientation. 57
6880614 1983
17
Familial hyperglycinuria. New defect in renal tubular transport of glycine and imino acids. 57
4685850 1973
18
Congenital microcephaly with hiatus hernia and nephrotic syndrome in two sibs. 57
5713646 1968
19
The pathology of the claustrum in Galloway syndrome indicates the existence of claustro-entorhinal pathway. 61
8276323 1993
20
Brain morphology in the Galloway syndrome. 61
2721045 1989
21
Amniotic fluid AFP level in Galloway syndrome. 61
2456218 1988

Variations for Galloway-Mowat Syndrome 1

ClinVar genetic disease variations for Galloway-Mowat Syndrome 1:

6 (show all 28)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WDR73 NM_032856.5(WDR73):c.703C>T (p.Gln235Ter) SNV Pathogenic 208465 rs797044992 GRCh37: 15:85188882-85188882
GRCh38: 15:84645651-84645651
2 WDR73 NM_032856.3(WDR73):c.400_401delAG (p.Trp136Alafs) Microsatellite Pathogenic 208466 rs767086146 GRCh37: 15:85189531-85189532
GRCh38: 15:84646300-84646301
3 WDR73 NM_032856.5(WDR73):c.1039C>T (p.His347Tyr) SNV Pathogenic 208467 rs754099015 GRCh37: 15:85186799-85186799
GRCh38: 15:84643568-84643568
4 WDR73 NM_032856.5(WDR73):c.68T>A (p.Leu23Gln) SNV Pathogenic 208468 rs797044993 GRCh37: 15:85196904-85196904
GRCh38: 15:84653673-84653673
5 WDR73 NM_032856.5(WDR73):c.940C>T (p.Gln314Ter) SNV Pathogenic 208469 rs797044994 GRCh37: 15:85186898-85186898
GRCh38: 15:84643667-84643667
6 WDR73 NM_032856.5(WDR73):c.287G>A (p.Arg96Lys) SNV Pathogenic 208470 rs797044995 GRCh37: 15:85191768-85191768
GRCh38: 15:84648537-84648537
7 WDR73 NM_032856.5(WDR73):c.888del (p.Phe296fs) Deletion Pathogenic 225244 rs869320712 GRCh37: 15:85186950-85186950
GRCh38: 15:84643719-84643719
8 WDR73 NM_032856.5(WDR73):c.129T>G (p.Tyr43Ter) SNV Pathogenic 162610 rs727502863 GRCh37: 15:85196014-85196014
GRCh38: 15:84652783-84652783
9 WDR73 NM_032856.5(WDR73):c.706_719dup (p.Ser240fs) Duplication Pathogenic 807718 rs1596050297 GRCh37: 15:85188865-85188866
GRCh38: 15:84645634-84645635
10 WDR73 NM_032856.5(WDR73):c.1132dup (p.Arg378fs) Duplication Pathogenic 286528 rs747109506 GRCh37: 15:85186705-85186706
GRCh38: 15:84643474-84643475
11 WDR73 NM_032856.5(WDR73):c.699G>A (p.Trp233Ter) SNV Pathogenic 1034166 GRCh37: 15:85188886-85188886
GRCh38: 15:84645655-84645655
12 WDR73 NM_032856.5(WDR73):c.928G>T (p.Gly310Ter) SNV Pathogenic 1031003 GRCh37: 15:85186910-85186910
GRCh38: 15:84643679-84643679
13 WDR73 NM_032856.5(WDR73):c.766dup (p.Arg256fs) Duplication Pathogenic/Likely pathogenic 162611 rs727502864 GRCh37: 15:85188818-85188819
GRCh38: 15:84645587-84645588
14 WDR73 NM_032856.5(WDR73):c.293T>C (p.Leu98Pro) SNV Likely pathogenic 242543 rs863223396 GRCh37: 15:85191180-85191180
GRCh38: 15:84647949-84647949
15 WDR73 NM_032856.5(WDR73):c.710dup (p.Gly238fs) Duplication Likely pathogenic 803115 rs1282630153 GRCh37: 15:85188874-85188875
GRCh38: 15:84645643-84645644
16 WDR73 NM_032856.5(WDR73):c.884G>A (p.Gly295Asp) SNV Likely pathogenic 804250 rs1596048227 GRCh37: 15:85186954-85186954
GRCh38: 15:84643723-84643723
17 WDR73 NM_032856.5(WDR73):c.626G>A (p.Trp209Ter) SNV Likely pathogenic 985008 GRCh37: 15:85188959-85188959
GRCh38: 15:84645728-84645728
18 WDR73 NM_032856.5(WDR73):c.767G>A (p.Arg256Gln) SNV Likely pathogenic 635182 rs866551482 GRCh37: 15:85188818-85188818
GRCh38: 15:84645587-84645587
19 WDR4 NM_018669.6(WDR4):c.454-2A>C SNV Likely pathogenic 619605 rs779449710 GRCh37: 21:44282506-44282506
GRCh38: 21:42862396-42862396
20 ZNF592 NM_014630.3(ZNF592):c.3136G>A (p.Gly1046Arg) SNV Uncertain significance 4 rs150829393 GRCh37: 15:85342440-85342440
GRCh38: 15:84799209-84799209
21 WDR73 NM_032856.5(WDR73):c.1132C>T (p.Arg378Cys) SNV Uncertain significance 1031002 GRCh37: 15:85186706-85186706
GRCh38: 15:84643475-84643475
22 WDR73 NM_032856.5(WDR73):c.99TGA[1] (p.Asp35del) Microsatellite Uncertain significance 1034165 GRCh37: 15:85196868-85196870
GRCh38: 15:84653637-84653639
23 ZNF592 NM_014630.3(ZNF592):c.2731G>A (p.Val911Ile) SNV Uncertain significance 548552 rs1211858750 GRCh37: 15:85341700-85341700
GRCh38: 15:84798469-84798469
24 ZNF592 NM_014630.3(ZNF592):c.2161C>T (p.Arg721Trp) SNV Uncertain significance 587477 rs746252249 GRCh37: 15:85328067-85328067
GRCh38: 15:84784836-84784836
25 WDR73 NM_032856.5(WDR73):c.926_943ATGGAACACGGAGCCAAG[1] (p.309_314DGTRSQ[1]) Microsatellite Benign 803114 rs11267906 GRCh37: 15:85186877-85186894
GRCh38: 15:84643646-84643663
26 ZNF592 NM_014630.3(ZNF592):c.2238A>G (p.Gln746=) SNV Benign 130839 rs2241645 GRCh37: 15:85333953-85333953
GRCh38: 15:84790722-84790722
27 ZNF592 NM_014630.3(ZNF592):c.2777G>A (p.Ser926Asn) SNV Benign 130840 rs8182086 GRCh37: 15:85341859-85341859
GRCh38: 15:84798628-84798628
28 ENG NM_000118.3(ENG):c.392C>T (p.Pro131Leu) SNV Benign 161232 rs139398993 GRCh37: 9:130588920-130588920
GRCh38: 9:127826641-127826641

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

Cellular components related to Galloway-Mowat Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 EKC/KEOPS complex GO:0000408 8.8 TPRKB LAGE3 GON7

Biological processes related to Galloway-Mowat Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 tRNA processing GO:0008033 8.8 WDR4 TPRKB LAGE3

Sources for Galloway-Mowat Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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