SCAR15
MCID: SPN272
MIFTS: 29

Spinocerebellar Ataxia, Autosomal Recessive 15 (SCAR15)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle 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 57 29 6 70
Salih Ataxia 57 58 72
Scar15 57 58 72
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due to Rubcn Deficiency 58
Ataxia, Spinocerebellar, Autosomal Recessive, Type 15 39
Autosomal Recessive Spinocerebellar Ataxia Type 15 58
Spinocerebellar Ataxia, Autosomal Recessive, 15 72
Autosomal Recessive Spinocerebellar Ataxia 15 12

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in early childhood


HPO:

31
spinocerebellar ataxia, autosomal recessive 15:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset progressive


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia, Autosomal Recessive 15

UniProtKB/Swiss-Prot : 72 Spinocerebellar ataxia, autosomal recessive, 15: A form of spinocerebellar ataxia, 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 hereditary ataxia and ataxia and polyneuropathy, adult-onset. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 15 is RUBCN (Rubicon Autophagy Regulator). Affiliated tissues include eye, cerebellum and spinal cord, and related phenotypes are dysarthria and delayed speech and language development

Disease Ontology : 12 An autosomal recessive cerebellar ataxia that has material basis in homozygous mutation in the RUBCN gene on chromosome 3q29.

OMIM® : 57 Autosomal recessive spinocerebellar ataxia-15 (SCAR15) is characterized by early-onset ataxia, cognitive impairment, dysarthria, and developmental delay. Variable features include seizures, nystagmus, and abnormal reflexes (Seidahmed et al., 2020). (615705) (Updated 05-Apr-2021)

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, Autosomal Recessive 28 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 hereditary ataxia 10.0
2 ataxia and polyneuropathy, adult-onset 9.9
3 autosomal dominant cerebellar ataxia 9.9

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 15

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 15:

58 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 58 31 very rare (1%) Very frequent (99-80%) HP:0001260
2 delayed speech and language development 58 31 very rare (1%) Very frequent (99-80%) HP:0000750
3 hyporeflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001265
4 gait ataxia 58 31 very rare (1%) Very frequent (99-80%) HP:0002066
5 delayed gross motor development 58 31 hallmark (90%) Very frequent (99-80%) HP:0002194
6 limb ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002070
7 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
8 saccadic smooth pursuit 58 31 very rare (1%) Frequent (79-30%) HP:0001152
9 seizure 31 very rare (1%) HP:0001250
10 nystagmus 58 31 very rare (1%) Occasional (29-5%) HP:0000639
11 postural instability 58 31 occasional (7.5%) Occasional (29-5%) HP:0002172
12 global developmental delay 31 very rare (1%) HP:0001263
13 intellectual disability, mild 31 very rare (1%) HP:0001256
14 cerebellar atrophy 31 very rare (1%) HP:0001272
15 unsteady gait 31 very rare (1%) HP:0002317
16 lower limb hyperreflexia 31 very rare (1%) HP:0002395
17 hyporeflexia of lower limbs 31 very rare (1%) HP:0002600
18 hyporeflexia of upper limbs 31 very rare (1%) HP:0012391
19 delayed ability to walk 31 very rare (1%) HP:0031936
20 seizures 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Peripheral Nervous System:
hyperreflexia
hyporeflexia
cerebellar atrophy (1 patient)

Neurologic Central Nervous System:
dysarthria
unsteady gait
delayed motor development
epilepsy (in some patients)
impaired intellectual development, mild to moderate (in some patients)
more
Head And Neck Eyes:
nystagmus
saccadic pursuit

Clinical features from OMIM®:

615705 (Updated 05-Apr-2021)

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:

40
Eye, Cerebellum, Spinal Cord

Publications for Spinocerebellar Ataxia, Autosomal Recessive 15

Articles related to Spinocerebellar Ataxia, Autosomal Recessive 15:

# Title Authors PMID Year
1
Ancient founder mutation in RUBCN: a second unrelated family confirms Salih ataxia (SCAR15). 57 6 61
32450808 2020
2
Autozygome and high throughput confirmation of disease genes candidacy. 6 57
30237576 2019
3
The Salih ataxia mutation impairs Rubicon endosomal localization. 6 57
23728897 2013
4
Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia. 57 6
20826435 2010

Variations for Spinocerebellar Ataxia, Autosomal Recessive 15

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RUBCN NM_014687.4(RUBCN):c.2624del (p.Ala875fs) Deletion Pathogenic 120216 rs587777235 GRCh37: 3:197403778-197403778
GRCh38: 3:197676907-197676907
2 RUBCN NM_014687.4(RUBCN):c.1396C>T (p.Arg466Ter) SNV Pathogenic 1033334 GRCh37: 3:197422814-197422814
GRCh38: 3:197695943-197695943
3 RUBCN NM_014687.4(RUBCN):c.464-1G>C SNV Pathogenic 1033335 GRCh37: 3:197430526-197430526
GRCh38: 3:197703655-197703655
4 RUBCN NM_014687.4(RUBCN):c.593C>T (p.Pro198Leu) SNV Uncertain significance 548452 rs145980033 GRCh37: 3:197428713-197428713
GRCh38: 3:197701842-197701842
5 RUBCN NM_014687.4(RUBCN):c.1642A>G (p.Thr548Ala) SNV Uncertain significance 242883 rs767982852 GRCh37: 3:197421288-197421288
GRCh38: 3:197694417-197694417
6 RUBCN NM_014687.4(RUBCN):c.319G>A (p.Glu107Lys) SNV Uncertain significance 242884 rs1114167292 GRCh37: 3:197431557-197431557
GRCh38: 3:197704686-197704686
7 RUBCN NM_014687.4(RUBCN):c.124A>G (p.Thr42Ala) SNV Uncertain significance 1030346 GRCh37: 3:197444943-197444943
GRCh38: 3:197718072-197718072
8 RUBCN NM_014687.4(RUBCN):c.2075A>T (p.Glu692Val) SNV Uncertain significance 809598 rs201343662 GRCh37: 3:197409392-197409392
GRCh38: 3:197682521-197682521

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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