CAMOS
MCID: SPN111
MIFTS: 20

Spinocerebellar Ataxia Autosomal Recessive 5 (CAMOS)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Spinocerebellar Ataxia Autosomal Recessive 5

MalaCards integrated aliases for Spinocerebellar Ataxia Autosomal Recessive 5:

Name: Spinocerebellar Ataxia Autosomal Recessive 5 20 6
Spinocerebellar Ataxia, Autosomal Recessive 5 70
Camos 20
Scar5 20

Classifications:



External Ids:

UMLS 70 C1847114

Summaries for Spinocerebellar Ataxia Autosomal Recessive 5

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 83472 Definition A disorder that is characterised by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive.

MalaCards based summary : Spinocerebellar Ataxia Autosomal Recessive 5, also known as spinocerebellar ataxia, autosomal recessive 5, is related to galloway-mowat syndrome 1 and galloway-mowat syndrome. An important gene associated with Spinocerebellar Ataxia Autosomal Recessive 5 is WDR73 (WD Repeat Domain 73).

Related Diseases for Spinocerebellar Ataxia Autosomal Recessive 5

Diseases in the Spinocerebellar Ataxia 2 family:

Spinocerebellar Ataxia 31 Spinocerebellar Ataxia 29
Spinocerebellar Ataxia 34 Spinocerebellar Ataxia 1
Spinocerebellar Ataxia 7 Spinocerebellar Ataxia 6
Spinocerebellar Ataxia, Autosomal Recessive 2 Spinocerebellar Ataxia, Autosomal Recessive 3
Spinocerebellar Ataxia 4 Spinocerebellar Ataxia 5
Spinocerebellar Ataxia 10 Spinocerebellar Ataxia 12
Spinocerebellar Ataxia 11 Spinocerebellar Ataxia 13
Spinocerebellar Ataxia 14 Spinocerebellar Ataxia 15
Spinocerebellar Ataxia 17 Spinocerebellar Ataxia, Autosomal Recessive 4
Spinocerebellar Ataxia 19 Spinocerebellar Ataxia 21
Spinocerebellar Ataxia 18 Spinocerebellar Ataxia, Autosomal Recessive 6
Spinocerebellar Ataxia 20 Spinocerebellar Ataxia 25
Spinocerebellar Ataxia 8 Spinocerebellar Ataxia, Autosomal Recessive 7
Spinocerebellar Ataxia 26 Spinocerebellar Ataxia 27
Spinocerebellar Ataxia 23 Spinocerebellar Ataxia 28
Spinocerebellar Ataxia, Autosomal Recessive 8 Spinocerebellar Ataxia 9
Spinocerebellar Ataxia 30 Spinocerebellar Ataxia, Autosomal Recessive 10
Spinocerebellar Ataxia 35 Spinocerebellar Ataxia 32
Spinocerebellar Ataxia 36 Spinocerebellar Ataxia, Autosomal Recessive 11
Spinocerebellar Ataxia, Autosomal Recessive 12 Spinocerebellar Ataxia, Autosomal Recessive 13
Spinocerebellar Ataxia, Autosomal Recessive 14 Spinocerebellar Ataxia, Autosomal Recessive 15
Spinocerebellar Ataxia, Autosomal Recessive 16 Spinocerebellar Ataxia 37
Spinocerebellar Ataxia 38 Spinocerebellar Ataxia 40
Spinocerebellar Ataxia, Autosomal Recessive 17 Spinocerebellar Ataxia, Autosomal Recessive 18
Spinocerebellar Ataxia, Autosomal Recessive 20 Spinocerebellar Ataxia 41
Spinocerebellar Ataxia, Autosomal Recessive 21 Spinocerebellar Ataxia 42
Spinocerebellar Ataxia, Autosomal Recessive 22 Spinocerebellar Ataxia, Autosomal Recessive 23
Spinocerebellar Ataxia 43 Spinocerebellar Ataxia, Autosomal Recessive 24
Spinocerebellar Ataxia, Autosomal Recessive 25 Spinocerebellar Ataxia, Autosomal Recessive 26
Spinocerebellar Ataxia 44 Spinocerebellar Ataxia 45
Spinocerebellar Ataxia 46 Spinocerebellar Ataxia 47
Spinocerebellar Ataxia 48 Spinocerebellar Ataxia, Autosomal Recessive 27
Spinocerebellar Ataxia, Autosomal Recessive 28 Spinocerebellar Ataxia Type 19/22
Grid2-Related Spinocerebellar Ataxia Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia Autosomal Recessive 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 galloway-mowat syndrome 1 31.9 ZNF592 WDR73
2 galloway-mowat syndrome 29.4 ZNF592 WDR73
3 autosomal recessive congenital cerebellar ataxia 29.3 ZNF592 WDR73
4 osteoporosis 10.6
5 bone mineral density quantitative trait locus 8 10.6
6 bone mineral density quantitative trait locus 15 10.6
7 arterial calcification, generalized, of infancy, 1 10.0
8 3-methylglutaconic aciduria, type iii 10.0
9 ataxia and polyneuropathy, adult-onset 10.0
10 body mass index quantitative trait locus 1 10.0
11 leukemia, chronic lymphocytic 9.9
12 bone disease 9.9
13 leukemia 9.9
14 secondary hyperparathyroidism 9.9
15 hyperparathyroidism 9.9
16 amenorrhea 9.9
17 infertility 9.9
18 hypotonia 9.9
19 autosomal recessive cerebellar ataxia 9.5 ZNF592 WDR73

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia Autosomal Recessive 5:



Diseases related to Spinocerebellar Ataxia Autosomal Recessive 5

Symptoms & Phenotypes for Spinocerebellar Ataxia Autosomal Recessive 5

Drugs & Therapeutics for Spinocerebellar Ataxia Autosomal Recessive 5

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia Autosomal Recessive 5

Genetic Tests for Spinocerebellar Ataxia Autosomal Recessive 5

Anatomical Context for Spinocerebellar Ataxia Autosomal Recessive 5

Publications for Spinocerebellar Ataxia Autosomal Recessive 5

Articles related to Spinocerebellar Ataxia Autosomal Recessive 5:

# Title Authors PMID Year
1
WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease. 6
26123727 2015
2
Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. 6
26070982 2015
3
Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome. 6
25873735 2015
4
Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome. 6
25466283 2014
5
CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592. 6
20531441 2010
6
Late-onset nephrotic syndrome and severe cerebellar atrophy in Galloway-Mowat syndrome. 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. 6
12030328 2002
8
New autosomal recessive cerebellar ataxia disorder in a large inbred Lebanese family. 6
11391656 2001
9
Mapping and QTL Analysis of Early-Maturity Traits in Tetraploid Potato (Solanum tuberosum L.). 61
30297627 2018
10
A Nanostructured Lipid System to Improve the Oral Bioavailability of Ruthenium(II) Complexes for the Treatment of Infections Caused by Mycobacterium tuberculosis. 61
30574128 2018

Variations for Spinocerebellar Ataxia Autosomal Recessive 5

ClinVar genetic disease variations for Spinocerebellar Ataxia Autosomal Recessive 5:

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

Expression for Spinocerebellar Ataxia Autosomal Recessive 5

Search GEO for disease gene expression data for Spinocerebellar Ataxia Autosomal Recessive 5.

Pathways for Spinocerebellar Ataxia Autosomal Recessive 5

GO Terms for Spinocerebellar Ataxia Autosomal Recessive 5

Sources for Spinocerebellar Ataxia Autosomal Recessive 5

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