MCID: SPN272
MIFTS: 26

Spinocerebellar Ataxia, Autosomal Recessive 15

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

Aliases & Classifications for Spinocerebellar Ataxia, Autosomal Recessive 15

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 15:

Name: Spinocerebellar Ataxia, Autosomal Recessive 15 57 29 6 73
Salih Ataxia 57 59 75
Scar15 57 59 75
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due to Rubcn Deficiency 59
Ataxia, Spinocerebellar, Autosomal Recessive, Type 15 40
Autosomal Recessive Spinocerebellar Ataxia Type 15 59
Spinocerebellar Ataxia, Autosomal Recessive, 15 75
Autosomal Recessive Spinocerebellar Ataxia 15 12

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to rubcn deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
spinocerebellar ataxia, autosomal recessive 15:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia, Autosomal Recessive 15

UniProtKB/Swiss-Prot : 75 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, is also known as salih ataxia. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 15 is RUBCN (RUN And Cysteine Rich Domain Containing Beclin 1 Interacting Protein). Affiliated tissues include eye, spinal cord and cerebellum, and related phenotypes are nystagmus and intellectual disability

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, 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 16
Spinocerebellar Ataxia Type 19/22 Grid2-Related Spinocerebellar Ataxia
Spinocerebellar Ataxia Autosomal Recessive 5

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 15

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 15:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 intellectual disability 32 frequent (33%) HP:0001249
3 seizures 32 frequent (33%) HP:0001250
4 ataxia 32 HP:0001251
5 dysarthria 32 HP:0001260
6 hyperreflexia 32 HP:0001347
7 hyporeflexia 32 HP:0001265
8 cerebellar atrophy 32 occasional (7.5%) HP:0001272
9 motor delay 32 HP:0001270
10 unsteady gait 32 HP:0002317

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 29 RUBCN

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 15

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

41
Eye, Spinal Cord, Cerebellum

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

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.2741delC (p.Ala914Valfs) deletion Pathogenic rs587777235 GRCh37 Chromosome 3, 197403778: 197403778
2 RUBCN NM_001346873.1(RUBCN): c.2741delC (p.Ala914Valfs) deletion Pathogenic rs587777235 GRCh38 Chromosome 3, 197676907: 197676907

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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17 ExPASy
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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