MCID: SPN111
MIFTS: 17

Spinocerebellar Ataxia Autosomal Recessive 5

Categories: Rare diseases, Neuronal diseases, Genetic diseases, Liver diseases, Fetal diseases, Metabolic diseases, Mental diseases, Ear diseases, Eye 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 49
Cerebellar Ataxia with Mental Retardation Optic Atrophy and Skin Abnormalities 49
Spinocerebellar Ataxia, Autosomal Recessive 5 69
Camos 49
Scar5 49

Classifications:



External Ids:

UMLS 69 C1847114

Summaries for Spinocerebellar Ataxia Autosomal Recessive 5

NIH Rare Diseases : 49 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 1. An important gene associated with Spinocerebellar Ataxia Autosomal Recessive 5 is ZNF592 (Zinc Finger Protein 592). Affiliated tissues include skin.

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 Type 16 Spinocerebellar Ataxia Type 19/22
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 Top Affiliating Genes
1 galloway-mowat syndrome 1 11.5

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

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

38
Skin

Publications for Spinocerebellar Ataxia Autosomal Recessive 5

Articles related to Spinocerebellar Ataxia Autosomal Recessive 5:

# Title Authors Year
1
Longitudinal changes in calcium and vitamin D intakes and relationship to bone mineral density in a prospective population-based study: the Canadian Multicentre Osteoporosis Study (CaMos). ( 24292617 )
2013
2
Spine-hip T-score difference predicts major osteoporotic fracture risk independent of FRAX(Ar): a population-based report from CAMOS. ( 21723768 )
2011
3
CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592. ( 20531441 )
2010
4
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. ( 12030328 )
2002

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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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