MCID: SPN100
MIFTS: 45

Spinocerebellar Ataxia 27

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

Aliases & Classifications for Spinocerebellar Ataxia 27

MalaCards integrated aliases for Spinocerebellar Ataxia 27:

Name: Spinocerebellar Ataxia 27 57 53 75 29 13 6 73
Spinocerebellar Ataxia Type 27 12 53 59 15
Sca27 57 53 59 75
Cerebellar Ataxia Autosomal Dominant Fgf14-Related 53 75
Cerebellar Ataxia, Autosomal Dominant, Fgf14-Related 57
Ataxia, Spinocerebellar, Type 27 40

Characteristics:

Orphanet epidemiological data:

59
spinocerebellar ataxia type 27
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
onset in late-childhood to early adulthood (12 to 20 years)
genetic heterogeneity (see sca1, )


HPO:

32
spinocerebellar ataxia 27:
Onset and clinical course slow progression
Inheritance heterogeneous autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 609307
Disease Ontology 12 DOID:0050976
Orphanet 59 ORPHA98764
MESH via Orphanet 45 C537204
UMLS via Orphanet 74 C1836383
ICD10 via Orphanet 34 G11.8
MedGen 42 C1836383
MeSH 44 D020754
UMLS 73 C1836383

Summaries for Spinocerebellar Ataxia 27

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 98764Disease definitionSpinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia.EpidemiologyFewer than 30 cases have been reported to date.EtiologyThis subtype is caused by a mutation in the fibroblast growth factor 14 FGF14 gene (13q34).PrognosisPrognosis is relatively good. Patients can walk unassisted until the 7th decade of life. Life-threatening status epilepticus and intractable seizure or severe dysphagia are rare.Visit the Orphanet disease page for more resources.

MalaCards based summary : Spinocerebellar Ataxia 27, also known as spinocerebellar ataxia type 27, is related to autosomal dominant cerebellar ataxia and spinocerebellar ataxia 28, and has symptoms including cerebellar ataxia, ataxia, truncal and memory loss. An important gene associated with Spinocerebellar Ataxia 27 is FGF14 (Fibroblast Growth Factor 14), and among its related pathways/superpathways are Circadian entrainment and Transmission across Chemical Synapses. Affiliated tissues include spinal cord, cerebellum and eye, and related phenotypes are gaze-evoked nystagmus and dysarthria

UniProtKB/Swiss-Prot : 75 Spinocerebellar ataxia 27: 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. SCA27 is an autosomal dominant cerebellar ataxia (ADCA). It is a slowly progressive disorder, with onset in late-childhood to early adulthood, characterized by ataxia with tremor, orofacial dyskinesia, psychiatric symptoms and cognitive deficits.

Description from OMIM: 609307

Related Diseases for Spinocerebellar Ataxia 27

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 27 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal dominant cerebellar ataxia 28.8 CACNA1A FGF14 KCNA1
2 spinocerebellar ataxia 28 9.7 FGF14 GRM1
3 episodic ataxia, type 7 9.6 CACNA1A KCNA1
4 episodic ataxia, type 2 9.5 CACNA1A KCNA1
5 spinocerebellar ataxia 6 9.5 CACNA1A KCNA1
6 spinocerebellar ataxia type 19/22 9.4 CACNA1A GRM1
7 episodic ataxia, type 1 9.4 CACNA1A KCNA1
8 hereditary ataxia 9.2 CACNA1A KCNA1
9 episodic ataxia 9.1 CACNA1A FGF14 KCNA1
10 epilepsy, idiopathic generalized 9.0 CACNA1A KCNA1

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 27:



Diseases related to Spinocerebellar Ataxia 27

Symptoms & Phenotypes for Spinocerebellar Ataxia 27

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
gait ataxia
limb ataxia
truncal ataxia
cerebellar atrophy
more
Skeletal Feet:
pes cavus

Head And Neck Face:
orofacial dyskinesias

Head And Neck Eyes:
strabismus
gaze-evoked nystagmus
dysmetric saccades
disrupted ocular pursuit movements
red-blind color blindness (reported in 1 patient)

Neurologic Behavioral Psychiatric Manifestations:
depression
aggressive outbursts

Neurologic Peripheral Nervous System:
sensory axonal neuropathy, mild


Clinical features from OMIM:

609307

Human phenotypes related to Spinocerebellar Ataxia 27:

59 32 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gaze-evoked nystagmus 59 32 very rare (1%) Very frequent (99-80%) HP:0000640
2 dysarthria 59 32 very rare (1%) Very frequent (99-80%) HP:0001260
3 aggressive behavior 59 32 frequent (33%) Frequent (79-30%) HP:0000718
4 pes cavus 59 32 very rare (1%) Frequent (79-30%) HP:0001761
5 gait ataxia 59 32 very rare (1%) Frequent (79-30%) HP:0002066
6 limb ataxia 59 32 very rare (1%) Frequent (79-30%) HP:0002070
7 truncal ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002078
8 memory impairment 59 32 frequent (33%) Frequent (79-30%) HP:0002354
9 difficulty walking 59 32 frequent (33%) Frequent (79-30%) HP:0002355
10 sensory axonal neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0003390
11 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
12 red-green dyschromatopsia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000642
13 depressivity 59 32 very rare (1%) Occasional (29-5%) HP:0000716
14 intellectual disability, mild 59 32 occasional (7.5%) Occasional (29-5%) HP:0001256
15 cerebellar atrophy 59 32 very rare (1%) Occasional (29-5%) HP:0001272
16 hand tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0002378
17 akinesia 59 32 very rare (1%) Very rare (<4-1%) HP:0002304
18 dysgraphia 59 32 very rare (1%) Very rare (<4-1%) HP:0010526
19 tremor 59 Very frequent (99-80%)
20 gait disturbance 59 Frequent (79-30%)
21 dysmetric saccades 32 HP:0000641
22 postural tremor 32 very rare (1%) HP:0002174
23 orofacial dyskinesia 32 very rare (1%) HP:0002310
24 head tremor 32 HP:0002346
25 impaired vibratory sensation 32 very rare (1%) HP:0002495
26 impaired smooth pursuit 32 HP:0007772

UMLS symptoms related to Spinocerebellar Ataxia 27:


cerebellar ataxia, ataxia, truncal, memory loss, gait ataxia

MGI Mouse Phenotypes related to Spinocerebellar Ataxia 27:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.77 CACNA1A FGF14 GRM1 KCNA1 SLC17A7
2 growth/size/body region MP:0005378 9.72 CACNA1A FGF14 GRM1 KCNA1 SLC17A7
3 integument MP:0010771 9.56 CACNA1A GRM1 KCNA1 SLC17A7
4 muscle MP:0005369 9.46 CACNA1A FGF14 GRM1 KCNA1
5 nervous system MP:0003631 9.35 CACNA1A FGF14 GRM1 KCNA1 SLC17A7
6 vision/eye MP:0005391 8.92 CACNA1A GRM1 KCNA1 SLC17A7

Drugs & Therapeutics for Spinocerebellar Ataxia 27

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Spinocerebellar Ataxia 27

Genetic Tests for Spinocerebellar Ataxia 27

Genetic tests related to Spinocerebellar Ataxia 27:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 27 29 FGF14

Anatomical Context for Spinocerebellar Ataxia 27

MalaCards organs/tissues related to Spinocerebellar Ataxia 27:

41
Spinal Cord, Cerebellum, Eye

Publications for Spinocerebellar Ataxia 27

Articles related to Spinocerebellar Ataxia 27:

# Title Authors Year
1
Spinocerebellar Ataxia 27: A Review and Characterization of an Evolving Phenotype. ( 29416937 )
2018
2
Spinocerebellar Ataxia 27: Clinical Phenotype of Twin Sisters with FGF14 Deletion. ( 28192817 )
2017
3
A new variable phenotype in spinocerebellar ataxia 27 (SCA 27) caused by a deletion in the FGF14 gene. ( 24252256 )
2013

Variations for Spinocerebellar Ataxia 27

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia 27:

75
# Symbol AA change Variation ID SNP ID
1 FGF14 p.Phe145Ser VAR_022736 rs104894393

ClinVar genetic disease variations for Spinocerebellar Ataxia 27:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FGF14 NM_175929.2(FGF14): c.449T> C (p.Phe150Ser) single nucleotide variant Pathogenic rs104894393 GRCh37 Chromosome 13, 102379135: 102379135
2 FGF14 NM_175929.2(FGF14): c.449T> C (p.Phe150Ser) single nucleotide variant Pathogenic rs104894393 GRCh38 Chromosome 13, 101726785: 101726785
3 FGF14 NM_175929.2(FGF14): c.502delA (p.Arg168Aspfs) deletion Pathogenic rs587776685 GRCh37 Chromosome 13, 102379082: 102379082
4 FGF14 NM_175929.2(FGF14): c.502delA (p.Arg168Aspfs) deletion Pathogenic rs587776685 GRCh38 Chromosome 13, 101726732: 101726732
5 FGF14 NM_004115.3(FGF14): c.636T> C (p.His212=) single nucleotide variant Conflicting interpretations of pathogenicity rs41281644 GRCh38 Chromosome 13, 101722939: 101722939
6 FGF14 NM_004115.3(FGF14): c.636T> C (p.His212=) single nucleotide variant Conflicting interpretations of pathogenicity rs41281644 GRCh37 Chromosome 13, 102375289: 102375289
7 FGF14 NM_004115.3(FGF14): c.693G> A (p.Ala231=) single nucleotide variant Benign/Likely benign rs34397704 GRCh37 Chromosome 13, 102375232: 102375232
8 FGF14 NM_004115.3(FGF14): c.693G> A (p.Ala231=) single nucleotide variant Benign/Likely benign rs34397704 GRCh38 Chromosome 13, 101722882: 101722882
9 FGF14 NM_004115.3(FGF14): c.529A> T (p.Lys177Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 13, 102379040: 102379040
10 FGF14 NM_004115.3(FGF14): c.529A> T (p.Lys177Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 13, 101726690: 101726690

Expression for Spinocerebellar Ataxia 27

Search GEO for disease gene expression data for Spinocerebellar Ataxia 27.

Pathways for Spinocerebellar Ataxia 27

GO Terms for Spinocerebellar Ataxia 27

Cellular components related to Spinocerebellar Ataxia 27 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 9.33 CACNA1A KCNA1 SLC17A7
2 presynaptic membrane GO:0042734 8.96 GRM1 KCNA1
3 dendrite GO:0030425 8.8 CACNA1A GRM1 KCNA1

Biological processes related to Spinocerebellar Ataxia 27 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.5 CACNA1A KCNA1 SLC17A7
2 transmembrane transport GO:0055085 9.43 CACNA1A KCNA1 SLC17A7
3 regulation of ion transmembrane transport GO:0034765 9.4 CACNA1A KCNA1
4 regulation of membrane potential GO:0042391 9.37 CACNA1A KCNA1
5 synaptic transmission, glutamatergic GO:0035249 9.16 CACNA1A SLC17A7
6 neuromuscular process GO:0050905 8.96 CACNA1A KCNA1
7 chemical synaptic transmission GO:0007268 8.92 CACNA1A GRM1 KCNA1 SLC17A7

Molecular functions related to Spinocerebellar Ataxia 27 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 8.96 CACNA1A KCNA1
2 voltage-gated ion channel activity GO:0005244 8.62 CACNA1A KCNA1

Sources for Spinocerebellar Ataxia 27

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
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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