Spinocerebellar Ataxia Autosomal Recessive 5 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Rare diseases Genetic diseases Metabolic diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Liver diseases Skin diseases Ear diseases Muscle diseases Mental diseases

See all MalaCards categories (disease lists)

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UMLS ⁷⁰ C1847114

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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).

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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:

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Symptoms & Phenotypes for Spinocerebellar Ataxia Autosomal Recessive 5

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Drugs & Therapeutics for Spinocerebellar Ataxia Autosomal Recessive 5

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

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Genetic Tests for Spinocerebellar Ataxia Autosomal Recessive 5

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Anatomical Context for Spinocerebellar Ataxia Autosomal Recessive 5

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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	Vodopiutz J...Zenker M	26123727	2015
2	Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. ⁶	Jinks RN...Strauss KA	26070982	2015
3	Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome. ⁶	Ben-Omran T...Tropepe V	25873735	2015
4	Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome. ⁶	Colin E...Antignac C	25466283	2014
5	CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592. ⁶	Nicolas E...Delague V	20531441	2010
6	Late-onset nephrotic syndrome and severe cerebellar atrophy in Galloway-Mowat syndrome. ⁶	Steiss JO...Hahn A	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	Delague V...Claustres M	12030328	2002
8	New autosomal recessive cerebellar ataxia disorder in a large inbred Lebanese family. ⁶	Megarbane A...Urtizberea A	11391656	2001
9	Mapping and QTL Analysis of Early-Maturity Traits in Tetraploid Potato (Solanum tuberosum L.). ⁶¹	Li X...Jin L	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	da Silva PB...Pavan FR	30574128	2018

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Genes for Spinocerebellar Ataxia Autosomal Recessive 5

Genes related to Spinocerebellar Ataxia Autosomal Recessive 5 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	WDR73	WD Repeat Domain 73	Protein Coding	425	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ Likely pathogenic ⁶	25466283 16217710 26123727 (more) 26070982 11391656 12030328 20531441 25873735
2	ZNF592	Zinc Finger Protein 592	Protein Coding	8.2	GeneCards inferred via : Gene name (show sections)

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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

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Expression for Spinocerebellar Ataxia Autosomal Recessive 5

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

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Pathways for Spinocerebellar Ataxia Autosomal Recessive 5

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GO Terms for Spinocerebellar Ataxia Autosomal Recessive 5

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Spinocerebellar Ataxia Autosomal Recessive 5 (CAMOS)

Aliases & Classifications for Spinocerebellar Ataxia Autosomal Recessive 5

MalaCards integrated aliases for Spinocerebellar Ataxia Autosomal Recessive 5:

Classifications:

External Ids:

Summaries for Spinocerebellar Ataxia Autosomal Recessive 5

Related Diseases for Spinocerebellar Ataxia Autosomal Recessive 5

Diseases in the Spinocerebellar Ataxia 2 family:

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

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

Symptoms & Phenotypes for Spinocerebellar Ataxia Autosomal Recessive 5

Drugs & Therapeutics 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:

Genes for Spinocerebellar Ataxia Autosomal Recessive 5

Genes related to Spinocerebellar Ataxia Autosomal Recessive 5 (1 elite genes):

Variations for Spinocerebellar Ataxia Autosomal Recessive 5

ClinVar genetic disease variations for Spinocerebellar Ataxia Autosomal Recessive 5:

Expression 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