SCAR11
MCID: SPN254
MIFTS: 25

Spinocerebellar Ataxia, Autosomal Recessive 11 (SCAR11)

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 11

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 11:

Name: Spinocerebellar Ataxia, Autosomal Recessive 11 57 29 13 6 70
Scar11 57 58 72
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome 58
Ataxia, Spinocerebellar, Autosomal Recessive, Type 11 39
Autosomal Recessive Spinocerebellar Ataxia Type 11 58
Spinocerebellar Ataxia, Autosomal Recessive, 11 72
Autosomal Recessive Spinocerebellar Ataxia 11 12

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive cerebellar ataxia-psychomotor delay syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM®:

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

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


HPO:

31
spinocerebellar ataxia, autosomal recessive 11:
Inheritance autosomal recessive inheritance
Onset and clinical course slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0080063
OMIM® 57 614229
OMIM Phenotypic Series 57 PS213200
ICD10 via Orphanet 33 G11.1
Orphanet 58 ORPHA284271
MedGen 41 C3280226
UMLS 70 C3280226

Summaries for Spinocerebellar Ataxia, Autosomal Recessive 11

UniProtKB/Swiss-Prot : 72 Spinocerebellar ataxia, autosomal recessive, 11: 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. 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 eye, cerebellum and spinal cord, and related phenotypes are intellectual disability and dysarthria

Disease Ontology : 12 An autosomal recessive cerebellar ataxia that has material basis in homozygous mutation in the SYT14 gene on chromosome 1q32.

More information from OMIM: 614229 PS213200

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 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

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 11

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 11:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 dysarthria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001260
3 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
4 cerebellar atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001272
5 limb ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002070
6 truncal ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002078
7 abnormality of ocular smooth pursuit 58 31 hallmark (90%) Very frequent (99-80%) HP:0000617
8 dysphagia 58 31 occasional (7.5%) Frequent (79-30%) HP:0002015
9 unsteady gait 58 31 frequent (33%) Frequent (79-30%) HP:0002317
10 gaze-evoked horizontal nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0007979
11 nystagmus 58 31 occasional (7.5%) Frequent (79-30%) HP:0000639
12 ataxia 58 Very frequent (99-80%)
13 gait disturbance 58 Very frequent (99-80%)
14 psychomotor retardation 31 HP:0025356
15 impaired smooth pursuit 31 HP:0007772

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
dysarthria
cerebellar atrophy
limb ataxia
truncal ataxia
cerebellar ataxia
more
Abdomen Gastrointestinal:
dysphagia (1 patient)

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

Clinical features from OMIM®:

614229 (Updated 05-Apr-2021)

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:

40
Eye, Cerebellum, Spinal Cord

Publications for Spinocerebellar Ataxia, Autosomal Recessive 11

Articles related to Spinocerebellar Ataxia, Autosomal Recessive 11:

# Title Authors PMID Year
1
Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation. 57 6
21835308 2011

Variations for Spinocerebellar Ataxia, Autosomal Recessive 11

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SYT14 NM_001146261.2(SYT14):c.1451G>A (p.Gly484Asp) SNV Pathogenic 30861 rs387907033 GRCh37: 1:210329217-210329217
GRCh38: 1:210155872-210155872
2 SYT14 NM_001146261.2(SYT14):c.527C>G (p.Pro176Arg) SNV Uncertain significance 805534 rs1192775388 GRCh37: 1:210194549-210194549
GRCh38: 1:210021204-210021204
3 SYT14 NM_153262.4(SYT14):c.672_674AGA[1] (p.Glu225del) Microsatellite Benign/Likely benign 212360 rs2307890 GRCh37: 1:210267899-210267901
GRCh38: 1:210094549-210094551
4 SYT14 NM_001146261.2(SYT14):c.1554T>C (p.Tyr518=) SNV Benign 130533 rs17188183 GRCh37: 1:210334081-210334081
GRCh38: 1:210160736-210160736

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

72
# Symbol AA change Variation ID SNP ID
1 SYT14 p.Gly439Asp VAR_066664 rs387907033

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
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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