MCID: SPN111
MIFTS: 16

Spinocerebellar Ataxia Autosomal Recessive 5

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

Aliases & Classifications for Spinocerebellar Ataxia Autosomal Recessive 5

MalaCards integrated aliases for Spinocerebellar Ataxia Autosomal Recessive 5:

Name: Spinocerebellar Ataxia Autosomal Recessive 5 50
Cerebellar Ataxia with Mental Retardation Optic Atrophy and Skin Abnormalities 50
Spinocerebellar Ataxia, Autosomal Recessive 5 69
Camos 50
Scar5 50

Classifications:



Summaries for Spinocerebellar Ataxia Autosomal Recessive 5

NIH Rare Diseases : 50 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. last updated: 6/22/2007

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. An important gene associated with Spinocerebellar Ataxia Autosomal Recessive 5 is ZNF592 (Zinc Finger Protein 592). The drugs Heptavalent Pneumococcal Conjugate Vaccine and Vaccines have been mentioned in the context of this disorder. Affiliated tissues include skin.

Related Diseases for Spinocerebellar Ataxia Autosomal Recessive 5

Diseases in the Spinocerebellar Ataxia 2 family:

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

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

id Related Disease Score Top Affiliating Genes
1 galloway-mowat syndrome 11.2

Symptoms & Phenotypes for Spinocerebellar Ataxia Autosomal Recessive 5

Drugs & Therapeutics for Spinocerebellar Ataxia Autosomal Recessive 5

Drugs for Spinocerebellar Ataxia Autosomal Recessive 5 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Heptavalent Pneumococcal Conjugate Vaccine Phase 3
2 Vaccines Phase 3

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Conjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT) Completed NCT00656409 Phase 3 Conjugated pneumococcal vaccine (Prevenar)
2 RTA 408 Capsules in Patients With Friedreich's Ataxia - MOXIe Recruiting NCT02255435 Phase 2 Omaveloxolone Capsules, 2.5 mg;Omaveloxolone Capsules, 5 mg;Omaveloxolone Capsules, 10 mg;Placebo;Omaveloxolone Capsules, 20 mg;Omaveloxolone Capsules, 40 mg;Omaveloxolone Capsules, 80 mg;Omaveloxolone Capsules, 160 mg;Omaveloxolone Capsules, 300 mg;Omaveloxolone Capsules, 150 mg
3 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
4 Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA) Recruiting NCT02316314

Search 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

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

39
Skin

Publications for Spinocerebellar Ataxia Autosomal Recessive 5

Variations for Spinocerebellar Ataxia Autosomal Recessive 5

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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