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 ⁵³

Cerebellar Ataxia with Mental Retardation Optic Atrophy and Skin Abnormalities ⁵³

Spinocerebellar Ataxia, Autosomal Recessive 5 ⁷³

Camos ⁵³

Scar5 ⁵³

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

UMLS ⁷³ C1847114

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Summaries for Spinocerebellar Ataxia Autosomal Recessive 5

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 83472Disease definitionCAMOS syndrome is characterised by the association of a non-progressive congenitalataxia, 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.Visit the Orphanet disease page for more resources.

MalaCards based summary : Spinocerebellar Ataxia Autosomal Recessive 5, also known as cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, is related to galloway-mowat syndrome 1 and osteoporosis. An important gene associated with Spinocerebellar Ataxia Autosomal Recessive 5 is ZNF592 (Zinc Finger Protein 592). Affiliated tissues include skin, liver and eye.

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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, Autosomal Recessive 1
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 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:

#	Related Disease	Score
1	galloway-mowat syndrome 1	11.7
2	osteoporosis	10.4
3	osteoporotic fracture	10.2
4	bone mineral density quantitative trait locus 8	10.2
5	bone mineral density quantitative trait locus 15	10.2
6	3-methylglutaconic aciduria, type iii	10.0
7	aceruloplasminemia	10.0
8	body mass index quantitative trait locus 1	10.0

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

MalaCards organs/tissues related to Spinocerebellar Ataxia Autosomal Recessive 5:

⁴¹

Skin, Liver, Eye

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Publications for Spinocerebellar Ataxia Autosomal Recessive 5

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Genes for Spinocerebellar Ataxia Autosomal Recessive 5

Genes related to Spinocerebellar Ataxia Autosomal Recessive 5 (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ZNF592	Zinc Finger Protein 592	Protein Coding	17.99	GeneCards inferred via : Gene name (show sections)

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Variations for Spinocerebellar Ataxia Autosomal Recessive 5

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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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Sources for Spinocerebellar Ataxia Autosomal Recessive 5

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⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

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

MalaCards organs/tissues related to Spinocerebellar Ataxia Autosomal Recessive 5:

Publications for Spinocerebellar Ataxia Autosomal Recessive 5

Genes for Spinocerebellar Ataxia Autosomal Recessive 5

Genes related to Spinocerebellar Ataxia Autosomal Recessive 5 (0 elite genes):

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