MCID: SPN100
MIFTS: 44

Spinocerebellar Ataxia 27

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

Aliases & Classifications for Spinocerebellar Ataxia 27

MalaCards integrated aliases for Spinocerebellar Ataxia 27:

Name: Spinocerebellar Ataxia 27 53 49 71 28 13 69
Spinocerebellar Ataxia Type 27 12 49 55 14
Sca27 53 49 55 71
Cerebellar Ataxia Autosomal Dominant Fgf14-Related 49 71
Cerebellar Ataxia, Autosomal Dominant, Fgf14-Related 53

Characteristics:

Orphanet epidemiological data:

55
spinocerebellar ataxia type 27
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM:

53
Inheritance:
autosomal dominant

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


HPO:

31
spinocerebellar ataxia 27:
Onset and clinical course slow progression
Inheritance heterogeneous autosomal dominant inheritance


Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

OMIM 53 609307
Disease Ontology 12 DOID:0050976
Orphanet 55 ORPHA98764
MESH via Orphanet 42 C537204
UMLS via Orphanet 70 C1836383
ICD10 via Orphanet 33 G11.8
MedGen 39 C1836383
MeSH 41 D020754
UMLS 69 C1836383

Summaries for Spinocerebellar Ataxia 27

UniProtKB/Swiss-Prot : 71 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.

MalaCards based summary : Spinocerebellar Ataxia 27, also known as spinocerebellar ataxia type 27, is related to autosomal dominant cerebellar ataxia and ataxia and polyneuropathy, adult-onset, and has symptoms including gait ataxia, dysarthria and intellectual disability, mild. 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 eye, spinal cord and cerebellum, and related phenotypes are behavior/neurological and growth/size/body region

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Spinocerebellar ataxia.

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 Type 16 Spinocerebellar Ataxia Type 19/22
Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia 27 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant cerebellar ataxia 29.3 CACNA1A FGF14 KCNA1
2 ataxia and polyneuropathy, adult-onset 10.2
3 spinocerebellar ataxia 28 9.8 FGF14 GRM1
4 episodic ataxia, type 7 9.8 CACNA1A KCNA1
5 episodic ataxia, type 2 9.7 CACNA1A KCNA1
6 spinocerebellar ataxia 6 9.7 CACNA1A KCNA1
7 spinocerebellar ataxia type 19/22 9.6 CACNA1A GRM1
8 episodic ataxia, type 1 9.6 CACNA1A KCNA1
9 epilepsy, idiopathic generalized 9.5 CACNA1A KCNA1
10 episodic ataxia 9.4 CACNA1A FGF14 KCNA1
11 central nervous system disease 9.3 CACNA1A GRM1

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:

53
Neurologic Central Nervous System:
memory loss
cerebellar ataxia
gait ataxia
dysarthria
limb ataxia
more
Head And Neck Eyes:
strabismus
gaze-evoked nystagmus
dysmetric saccades
disrupted ocular pursuit movements
red-blind color blindness (reported in 1 patient)

Head And Neck Face:
orofacial dyskinesias

Neurologic Behavioral Psychiatric Manifestations:
depression
aggressive outbursts

Skeletal Feet:
pes cavus

Neurologic Peripheral Nervous System:
sensory axonal neuropathy, mild


Clinical features from OMIM:

609307

Human phenotypes related to Spinocerebellar Ataxia 27:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 gait ataxia 31 very rare (1%) HP:0002066
2 dysarthria 31 very rare (1%) HP:0001260
3 intellectual disability, mild 31 HP:0001256
4 strabismus 31 HP:0000486
5 limb ataxia 31 very rare (1%) HP:0002070
6 pes cavus 31 very rare (1%) HP:0001761
7 sensory axonal neuropathy 31 HP:0003390
8 memory impairment 31 HP:0002354
9 postural tremor 31 very rare (1%) HP:0002174
10 cerebellar atrophy 31 very rare (1%) HP:0001272
11 head tremor 31 HP:0002346
12 orofacial dyskinesia 31 very rare (1%) HP:0002310
13 truncal ataxia 31 HP:0002078
14 impaired smooth pursuit 31 HP:0007772
15 impaired vibratory sensation 31 very rare (1%) HP:0002495
16 gaze-evoked nystagmus 31 very rare (1%) HP:0000640
17 dysmetric saccades 31 HP:0000641
18 depressivity 31 very rare (1%) HP:0000716

UMLS symptoms related to Spinocerebellar Ataxia 27:


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

MGI Mouse Phenotypes related to Spinocerebellar Ataxia 27:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.72 CACNA1A FGF14 GRM1 KCNA1 SLC17A7
2 growth/size/body region MP:0005378 9.65 CACNA1A FGF14 GRM1 KCNA1 SLC17A7
3 integument MP:0010771 9.46 CACNA1A GRM1 KCNA1 SLC17A7
4 nervous system MP:0003631 9.35 CACNA1A FGF14 GRM1 KCNA1 SLC17A7
5 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 28 FGF14

Anatomical Context for Spinocerebellar Ataxia 27

MalaCards organs/tissues related to Spinocerebellar Ataxia 27:

38
Eye, Spinal Cord, Cerebellum

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:

71
# 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.502delA (p.Arg168Aspfs) deletion Pathogenic rs587776685 GRCh38 Chromosome 13, 101726732: 101726732
2 FGF14 NM_175929.2(FGF14): c.449T> C (p.Phe150Ser) single nucleotide variant Pathogenic rs104894393 GRCh37 Chromosome 13, 102379135: 102379135

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 9.54 CACNA1A KCNA1 SLC17A7
2 transmembrane transport GO:0055085 9.5 CACNA1A KCNA1 SLC17A7
3 regulation of ion transmembrane transport GO:0034765 9.4 CACNA1A KCNA1
4 regulation of membrane potential GO:0042391 9.26 CACNA1A KCNA1
5 neuromuscular process GO:0050905 9.16 CACNA1A KCNA1
6 synaptic transmission, glutamatergic GO:0035249 8.96 CACNA1A SLC17A7
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 voltage-gated ion channel activity GO:0005244 8.96 CACNA1A KCNA1
2 ion channel activity GO:0005216 8.62 CACNA1A KCNA1

Sources for Spinocerebellar Ataxia 27

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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