MCID: SPN261
MIFTS: 30

Spinocerebellar Ataxia, Autosomal Recessive 14

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 14

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 14:

Name: Spinocerebellar Ataxia, Autosomal Recessive 14 57 29 6 73
Sparca1 57 59 75
Scar14 57 59 75
Cerebellar Ataxia, Autosomal Recessive, Spectrin-Associated, 1; Sparca1 57
Ataxie Spinocérébelleuse À Début Infantile Avec Retard Psychomoteur 59
Infantile-Onset Spinocerebellar Ataxia-Psychomotor Delay Syndrome 59
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia Type 1 59
Cerebellar Ataxia, Autosomal Recessive, Spectrin-Associated, 1 57
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia 1 75
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia 59
Ataxia, Spinocerebellar, Autosomal Recessive, Type 14 40
Autosomal Recessive Spinocerebellar Ataxia Type 14 59
Spinocerebellar Ataxia, Autosomal Recessive, 14 75
Autosomal Recessive Spinocerebellar Ataxia 14 12
Sparca 59

Characteristics:

Orphanet epidemiological data:

59
spectrin-associated autosomal recessive cerebellar ataxia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
slowly progressive
two unrelated families have been reported (last curated august 2013)


HPO:

32
spinocerebellar ataxia, autosomal recessive 14:
Onset and clinical course infantile onset slow progression
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia, Autosomal Recessive 14

UniProtKB/Swiss-Prot : 75 Spinocerebellar ataxia, autosomal recessive, 14: Spinocerebellar ataxia is 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. SCAR14 is characterized by delayed psychomotor development, severe early onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability.

MalaCards based summary : Spinocerebellar Ataxia, Autosomal Recessive 14, also known as sparca1, is related to tremor, and has symptoms including action tremor, dysdiadochokinesis and gait ataxia. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 14 is SPTBN2 (Spectrin Beta, Non-Erythrocytic 2). Affiliated tissues include eye, brain and spinal cord, and related phenotypes are nystagmus and diplopia

OMIM : 57 Autosomal recessive spinocerebellar ataxia-14 is a neurologic disorder characterized by delayed psychomotor development, severe early-onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability (summary by Lise et al., 2012). (615386)

Related Diseases for Spinocerebellar Ataxia, Autosomal Recessive 14

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

Diseases related to Spinocerebellar Ataxia, Autosomal Recessive 14 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 tremor 10.0

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 14

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
gait ataxia
dysmetria
intention tremor
dysdiadochokinesis
cerebellar atrophy
more
Head And Neck Eyes:
nystagmus (in some patients)
hypometric saccades (in some patients)
abnormal eye movements (in some patients)
jerky smooth pursuit (in some patients)


Clinical features from OMIM:

615386

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 14:

59 32 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
2 diplopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000651
3 spasticity 59 32 occasional (7.5%) Occasional (29-5%) HP:0001257
4 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
5 hyperreflexia 59 32 occasional (7.5%) Frequent (79-30%) HP:0001347
6 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
7 delayed speech and language development 59 32 frequent (33%) Frequent (79-30%) HP:0000750
8 intellectual disability, mild 59 32 frequent (33%) Frequent (79-30%) HP:0001256
9 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
10 slurred speech 59 32 frequent (33%) Frequent (79-30%) HP:0001350
11 dysmetria 59 32 frequent (33%) Frequent (79-30%) HP:0001310
12 intention tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0002080
13 dysdiadochokinesis 59 32 frequent (33%) Frequent (79-30%) HP:0002075
14 progressive cerebellar ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002073
15 truncal ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002078
16 horizontal nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000666
17 cerebellar atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0001272
18 progressive gait ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0007240
19 jerky ocular pursuit movements 59 32 occasional (7.5%) Occasional (29-5%) HP:0008003
20 dysmetric saccades 59 32 occasional (7.5%) Occasional (29-5%) HP:0000641
21 cognitive impairment 32 HP:0100543
22 gait ataxia 32 HP:0002066
23 hypometric saccades 32 occasional (7.5%) HP:0000571

UMLS symptoms related to Spinocerebellar Ataxia, Autosomal Recessive 14:


action tremor, dysdiadochokinesis, gait ataxia

Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 14

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia, Autosomal Recessive 14

Genetic Tests for Spinocerebellar Ataxia, Autosomal Recessive 14

Genetic tests related to Spinocerebellar Ataxia, Autosomal Recessive 14:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia, Autosomal Recessive 14 29 SPTBN2

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 14

MalaCards organs/tissues related to Spinocerebellar Ataxia, Autosomal Recessive 14:

41
Eye, Brain, Spinal Cord, Cerebellum

Publications for Spinocerebellar Ataxia, Autosomal Recessive 14

Variations for Spinocerebellar Ataxia, Autosomal Recessive 14

ClinVar genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 14:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SPTBN2 NM_006946.3(SPTBN2): c.1881C> A (p.Cys627Ter) single nucleotide variant Pathogenic rs146859515 GRCh37 Chromosome 11, 66472866: 66472866
2 SPTBN2 NM_006946.3(SPTBN2): c.1881C> A (p.Cys627Ter) single nucleotide variant Pathogenic rs146859515 GRCh38 Chromosome 11, 66705395: 66705395
3 SPTBN2 NM_006946.3(SPTBN2): c.2864_2868delCCTCA (p.Thr955Serfs) deletion Pathogenic rs587777026 GRCh38 Chromosome 11, 66701231: 66701235
4 SPTBN2 NM_006946.3(SPTBN2): c.2864_2868delCCTCA (p.Thr955Serfs) deletion Pathogenic rs587777026 GRCh37 Chromosome 11, 66468702: 66468706

Expression for Spinocerebellar Ataxia, Autosomal Recessive 14

Search GEO for disease gene expression data for Spinocerebellar Ataxia, Autosomal Recessive 14.

Pathways for Spinocerebellar Ataxia, Autosomal Recessive 14

GO Terms for Spinocerebellar Ataxia, Autosomal Recessive 14

Sources for Spinocerebellar Ataxia, Autosomal Recessive 14

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17 ExPASy
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31 HMDB
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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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