MCID: SPN254
MIFTS: 26

Spinocerebellar Ataxia, Autosomal Recessive 11

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 11

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 11:

Name: Spinocerebellar Ataxia, Autosomal Recessive 11 57 29 13 6 73
Scar11 57 59 75
Autosomal Recessive Cerebellar Ataxia-Psychomotor Retardation Syndrome 59
Ataxia, Spinocerebellar, Autosomal Recessive, Type 11 40
Autosomal Recessive Spinocerebellar Ataxia Type 11 59
Spinocerebellar Ataxia, Autosomal Recessive, 11 75
Autosomal Recessive Spinocerebellar Ataxia 11 12

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive cerebellar ataxia-psychomotor retardation syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
onset of ataxia in the fifties
two japanese brothers have been reported (as of september 2011)


HPO:

32
spinocerebellar ataxia, autosomal recessive 11:
Onset and clinical course slow progression
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 614229
Disease Ontology 12 DOID:0080063
Orphanet 59 ORPHA284271
ICD10 via Orphanet 34 G11.1
MedGen 42 C3280226
UMLS 73 C3280226

Summaries for Spinocerebellar Ataxia, Autosomal Recessive 11

UniProtKB/Swiss-Prot : 75 Spinocerebellar ataxia, autosomal recessive, 11: 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. SCAR11 is associated with psychomotor retardation.

MalaCards based summary : Spinocerebellar Ataxia, Autosomal Recessive 11, is also known as scar11, and has symptoms including cerebellar ataxia and ataxia, truncal. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 11 is SYT14 (Synaptotagmin 14). Affiliated tissues include spinal cord, cerebellum and eye, and related phenotypes are abnormality of ocular smooth pursuit and intellectual disability

Description from OMIM: 614229

Related Diseases for Spinocerebellar Ataxia, Autosomal Recessive 11

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 11

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
limb ataxia
truncal ataxia
cerebellar atrophy
cerebellar ataxia
more
Abdomen Gastrointestinal:
dysphagia (1 patient)

Head And Neck Eyes:
impaired smooth pursuit
nystagmus (1 patient)


Clinical features from OMIM:

614229

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 11:

59 32 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of ocular smooth pursuit 59 32 hallmark (90%) Very frequent (99-80%) HP:0000617
2 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
3 dysarthria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001260
4 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
5 cerebellar atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001272
6 limb ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002070
7 truncal ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002078
8 nystagmus 59 32 occasional (7.5%) Frequent (79-30%) HP:0000639
9 dysphagia 59 32 occasional (7.5%) Frequent (79-30%) HP:0002015
10 unsteady gait 59 32 frequent (33%) Frequent (79-30%) HP:0002317
11 gaze-evoked horizontal nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0007979
12 ataxia 59 Very frequent (99-80%)
13 gait disturbance 59 Very frequent (99-80%)
14 impaired smooth pursuit 32 HP:0007772

UMLS symptoms related to Spinocerebellar Ataxia, Autosomal Recessive 11:


cerebellar ataxia, ataxia, truncal

Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 11

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia, Autosomal Recessive 11

Genetic Tests for Spinocerebellar Ataxia, Autosomal Recessive 11

Genetic tests related to Spinocerebellar Ataxia, Autosomal Recessive 11:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia, Autosomal Recessive 11 29 SYT14

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 11

MalaCards organs/tissues related to Spinocerebellar Ataxia, Autosomal Recessive 11:

41
Spinal Cord, Cerebellum, Eye

Publications for Spinocerebellar Ataxia, Autosomal Recessive 11

Variations for Spinocerebellar Ataxia, Autosomal Recessive 11

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 11:

75
# Symbol AA change Variation ID SNP ID
1 SYT14 p.Gly439Asp VAR_066664 rs387907033

ClinVar genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 11:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SYT14 NM_001146261.2(SYT14): c.1451G> A (p.Gly484Asp) single nucleotide variant Pathogenic rs387907033 GRCh37 Chromosome 1, 210329217: 210329217
2 SYT14 NM_001146261.2(SYT14): c.1451G> A (p.Gly484Asp) single nucleotide variant Pathogenic rs387907033 GRCh38 Chromosome 1, 210155872: 210155872
3 SYT14 NM_001256006.1(SYT14): c.561_563delAGA (p.Glu187del) deletion Conflicting interpretations of pathogenicity rs2307890 GRCh37 Chromosome 1, 210267899: 210267901
4 SYT14 NM_001256006.1(SYT14): c.561_563delAGA (p.Glu187del) deletion Conflicting interpretations of pathogenicity rs2307890 GRCh38 Chromosome 1, 210094554: 210094556

Expression for Spinocerebellar Ataxia, Autosomal Recessive 11

Search GEO for disease gene expression data for Spinocerebellar Ataxia, Autosomal Recessive 11.

Pathways for Spinocerebellar Ataxia, Autosomal Recessive 11

GO Terms for Spinocerebellar Ataxia, Autosomal Recessive 11

Sources for Spinocerebellar Ataxia, Autosomal Recessive 11

3 CDC
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
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45 MESH via Orphanet
46 MGI
49 NCI
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54 NINDS
55 Novoseek
57 OMIM
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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