SCAR15
MCID: SPN272
MIFTS: 28

Spinocerebellar Ataxia, Autosomal Recessive 15 (SCAR15)

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

Aliases & Classifications for Spinocerebellar Ataxia, Autosomal Recessive 15

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 15:

Name: Spinocerebellar Ataxia, Autosomal Recessive 15 58 30 6 74
Salih Ataxia 58 60 76
Scar15 58 60 76
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due to Rubcn Deficiency 60
Ataxia, Spinocerebellar, Autosomal Recessive, Type 15 41
Autosomal Recessive Spinocerebellar Ataxia Type 15 60
Spinocerebellar Ataxia, Autosomal Recessive, 15 76
Autosomal Recessive Spinocerebellar Ataxia 15 12

Characteristics:

Orphanet epidemiological data:

60
autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to rubcn deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in early childhood
one family has been reported (last curated march 2014)


HPO:

33
spinocerebellar ataxia, autosomal recessive 15:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia, Autosomal Recessive 15

UniProtKB/Swiss-Prot : 76 Spinocerebellar ataxia, autosomal recessive, 15: Spinocerebellar ataxia defines a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR15 patients manifest cerebellar ataxia in early childhood and delayed motor development with delayed walking. Additional features include dysarthria, upper limb involvement, abnormal eye movements, and hyporeflexia.

MalaCards based summary : Spinocerebellar Ataxia, Autosomal Recessive 15, also known as salih ataxia, is related to ataxia and polyneuropathy, adult-onset. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 15 is RUBCN (Rubicon Autophagy Regulator). Affiliated tissues include eye, spinal cord and cerebellum, and related phenotypes are dysarthria and delayed speech and language development

Description from OMIM: 615705

Related Diseases for Spinocerebellar Ataxia, Autosomal Recessive 15

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 Type 19/22 Grid2-Related Spinocerebellar Ataxia
Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia, Autosomal Recessive 15 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ataxia and polyneuropathy, adult-onset 10.2

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 15

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 15:

60 33 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 60 33 hallmark (90%) Very frequent (99-80%) HP:0001260
2 delayed speech and language development 60 33 hallmark (90%) Very frequent (99-80%) HP:0000750
3 gait ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002066
4 limb ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002070
5 hyporeflexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001265
6 delayed gross motor development 60 33 hallmark (90%) Very frequent (99-80%) HP:0002194
7 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
8 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
9 saccadic smooth pursuit 60 33 frequent (33%) Frequent (79-30%) HP:0001152
10 nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000639
11 postural instability 60 33 occasional (7.5%) Occasional (29-5%) HP:0002172
12 cerebellar atrophy 33 occasional (7.5%) HP:0001272
13 ataxia 33 HP:0001251
14 hyperreflexia 33 HP:0001347
15 motor delay 33 HP:0001270
16 unsteady gait 33 HP:0002317

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
saccadic pursuit

Neurologic Peripheral Nervous System:
hyperreflexia
hyporeflexia
cerebellar atrophy (1 patient)

Neurologic Central Nervous System:
dysarthria
unsteady gait
delayed motor development
spinocerebellar ataxia (upper and lower limb involvement)
mental retardation (in 2 of 3 patients)
more

Clinical features from OMIM:

615705

Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 15

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia, Autosomal Recessive 15

Genetic Tests for Spinocerebellar Ataxia, Autosomal Recessive 15

Genetic tests related to Spinocerebellar Ataxia, Autosomal Recessive 15:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia, Autosomal Recessive 15 30 RUBCN

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 15

MalaCards organs/tissues related to Spinocerebellar Ataxia, Autosomal Recessive 15:

42
Eye, Spinal Cord, Cerebellum, Skin, Liver

Publications for Spinocerebellar Ataxia, Autosomal Recessive 15

Articles related to Spinocerebellar Ataxia, Autosomal Recessive 15:

# Title Authors Year
1
The Salih ataxia mutation impairs Rubicon endosomal localization. ( 23728897 )
2013
2
Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia. ( 20826435 )
2010

Variations for Spinocerebellar Ataxia, Autosomal Recessive 15

ClinVar genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 15:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RUBCN NM_001346873.1(RUBCN): c.2741del (p.Ala914Valfs) deletion Pathogenic rs587777235 GRCh37 Chromosome 3, 197403778: 197403778
2 RUBCN NM_001346873.1(RUBCN): c.2741del (p.Ala914Valfs) deletion Pathogenic rs587777235 GRCh38 Chromosome 3, 197676907: 197676907
3 RUBCN NM_014687.3(RUBCN): c.593C> T (p.Pro198Leu) single nucleotide variant Uncertain significance rs145980033 GRCh37 Chromosome 3, 197428713: 197428713
4 RUBCN NM_014687.3(RUBCN): c.593C> T (p.Pro198Leu) single nucleotide variant Uncertain significance rs145980033 GRCh38 Chromosome 3, 197701842: 197701842

Expression for Spinocerebellar Ataxia, Autosomal Recessive 15

Search GEO for disease gene expression data for Spinocerebellar Ataxia, Autosomal Recessive 15.

Pathways for Spinocerebellar Ataxia, Autosomal Recessive 15

GO Terms for Spinocerebellar Ataxia, Autosomal Recessive 15

Sources for Spinocerebellar Ataxia, Autosomal Recessive 15

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75 UMLS via Orphanet
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