SCA27
MCID: SPN100
MIFTS: 43

Spinocerebellar Ataxia 27 (SCA27) malady

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

Aliases & Classifications for Spinocerebellar Ataxia 27

Aliases & Descriptions for Spinocerebellar Ataxia 27:

Name: Spinocerebellar Ataxia 27 54 50 66 13 69
Spinocerebellar Ataxia Type 27 12 50 56 29 14
Sca27 50 56 66
Cerebellar Ataxia Autosomal Dominant Fgf14-Related 50 66

Characteristics:

Orphanet epidemiological data:

56
spinocerebellar ataxia type 27
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

HPO:

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


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 609307
Disease Ontology 12 DOID:0050976
Orphanet 56 ORPHA98764
MESH via Orphanet 43 C537204
UMLS via Orphanet 70 C1836383
ICD10 via Orphanet 34 G11.8
MedGen 40 C1836383
MeSH 42 D020754

Summaries for Spinocerebellar Ataxia 27

UniProtKB/Swiss-Prot : 66 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 spinocerebellar ataxia type27 and hypotrichosis 1, and has symptoms including gait ataxia, depression and dysarthria. An important gene associated with Spinocerebellar Ataxia 27 is FGF14 (Fibroblast Growth Factor 14), and among its related pathways/superpathways are Circadian entrainment and GABAergic synapse. Affiliated tissues include eye, spinal cord and cerebellum, and related phenotypes are Synthetic lethal with vaccinia virus (VACV) infection and behavior/neurological

Description from OMIM: 609307

Related Diseases for Spinocerebellar Ataxia 27

Diseases in the Spinocerebellar Ataxia 2 family:

Spinocerebellar Ataxia 21 Spinocerebellar Ataxia, Autosomal Recessive 4
Spinocerebellar Ataxia 37 Spinocerebellar Ataxia 19
Spinocerebellar Ataxia, Autosomal Recessive 11 Spinocerebellar Ataxia 25
Spinocerebellar Ataxia 15 Spinocerebellar Ataxia, Autosomal Recessive 10
Spinocerebellar Ataxia 7 Spinocerebellar Ataxia, Autosomal Recessive 15
Spinocerebellar Ataxia, Autosomal Recessive 18 Spinocerebellar Ataxia 41
Spinocerebellar Ataxia 30 Spinocerebellar Ataxia 12
Spinocerebellar Ataxia 1 Spinocerebellar Ataxia, Autosomal Recessive 3
Spinocerebellar Ataxia 38 Spinocerebellar Ataxia 34
Spinocerebellar Ataxia, Autosomal Recessive 20 Spinocerebellar Ataxia, Autosomal Recessive 13
Spinocerebellar Ataxia, Autosomal Recessive 8 Spinocerebellar Ataxia 17
Spinocerebellar Ataxia 18 Spinocerebellar Ataxia 32
Spinocerebellar Ataxia, Autosomal Recessive 1 Spinocerebellar Ataxia, Autosomal Recessive 2
Spinocerebellar Ataxia, Autosomal Recessive 17 Spinocerebellar Ataxia, Autosomal Recessive 7
Spinocerebellar Ataxia 20 Spinocerebellar Ataxia 5
Spinocerebellar Ataxia, Autosomal Recessive 14 Spinocerebellar Ataxia 8
Spinocerebellar Ataxia 27 Spinocerebellar Ataxia 40
Spinocerebellar Ataxia 11 Spinocerebellar Ataxia, Autosomal Recessive 16
Spinocerebellar Ataxia 31 Spinocerebellar Ataxia, Autosomal Recessive 12
Spinocerebellar Ataxia 4 Spinocerebellar Ataxia 28
Spinocerebellar Ataxia 26 Spinocerebellar Ataxia 6
Spinocerebellar Ataxia 13 Spinocerebellar Ataxia 14
Spinocerebellar Ataxia 36 Spinocerebellar Ataxia 23
Spinocerebellar Ataxia 35 Spinocerebellar Ataxia, Autosomal Recessive 6
Spinocerebellar Ataxia 10 Spinocerebellar Ataxia Type 16
Spinocerebellar Ataxia Type 19/22 Grid2-Related Spinocerebellar Ataxia
Spinocerebellar Ataxia 9 Spinocerebellar Ataxia Autosomal Recessive 5
Spinocerebellar Ataxia Type 42 Spinocerebellar Ataxia 43
Spinocerebellar Ataxia, Autosomal Recessive, 24 Spinocerebellar Ataxia, Autosomal Recessive, 22

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

(show all 16)
id Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia type27 11.0
2 hypotrichosis 1 10.1 FGF14 GRM1
3 nephrotic syndrome, type 9 10.0 CACNA1A KCNA1
4 hypocalciuric hypercalcemia, type ii 10.0 CACNA1A KCNA1
5 hypocalcemia, autosomal dominant 2 10.0 CACNA1A KCNA1
6 cerebellar ataxia, mental retardation and dysequlibrium syndrome 10.0 CACNA1A GRM1
7 retinal cone dystrophy 3 10.0 CACNA1A KCNA1
8 ataxia 10.0
9 dipetalonemiasis 10.0 CACNA1A FGF14
10 placental abruption 9.9 CACNA1A KCNA1
11 cataract 29, coralliform 9.9 KCNA1 XK
12 cephalic disorders 9.9 CACNA1A FGF14 KCNA1
13 laryngitis 9.8 CACNA1A XK
14 hemorrhagic shock and encephalopathy syndrome 9.8 CACNA1A XK
15 deafness, autosomal dominant 7 9.7 CACNA1A XK
16 diamond-blackfan anemia 13 9.2 CACNA1A FGF14 GRM1 KCNA1 SLC17A7 XK

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 by clinical synopsis from OMIM:

609307

Clinical features from OMIM:

609307

Human phenotypes related to Spinocerebellar Ataxia 27:

32 (show all 18)
id Description HPO Frequency HPO Source Accession
1 gait ataxia 32 HP:0002066
2 depression 32 HP:0000716
3 dysarthria 32 HP:0001260
4 intellectual disability, mild 32 HP:0001256
5 strabismus 32 HP:0000486
6 limb ataxia 32 HP:0002070
7 pes cavus 32 HP:0001761
8 sensory axonal neuropathy 32 HP:0003390
9 memory impairment 32 HP:0002354
10 postural tremor 32 HP:0002174
11 cerebellar atrophy 32 HP:0001272
12 head tremor 32 HP:0002346
13 orofacial dyskinesia 32 HP:0002310
14 truncal ataxia 32 HP:0002078
15 impaired smooth pursuit 32 HP:0007772
16 impaired vibratory sensation 32 HP:0002495
17 gaze-evoked nystagmus 32 HP:0000640
18 dysmetric saccades 32 HP:0000641

UMLS symptoms related to Spinocerebellar Ataxia 27:


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

GenomeRNAi Phenotypes related to Spinocerebellar Ataxia 27 according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with vaccinia virus (VACV) infection GR00362-A 8.8 CACNA1A FGF14 XK

MGI Mouse Phenotypes related to Spinocerebellar Ataxia 27:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.72 CACNA1A FGF14 GRM1 KCNA1 SLC17A7
2 integument MP:0010771 9.65 CACNA1A GRM1 KCNA1 SLC17A7 XK
3 muscle MP:0005369 9.46 XK CACNA1A GRM1 KCNA1
4 nervous system MP:0003631 9.43 CACNA1A FGF14 GRM1 KCNA1 SLC17A7 XK
5 vision/eye MP:0005391 8.92 CACNA1A GRM1 KCNA1 SLC17A7

Drugs & Therapeutics for Spinocerebellar Ataxia 27

Interventional clinical trials:


id Name Status NCT ID Phase
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:

id Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 27 29

Anatomical Context for Spinocerebellar Ataxia 27

MalaCards organs/tissues related to Spinocerebellar Ataxia 27:

39
Eye, Spinal Cord, Cerebellum

Publications for Spinocerebellar Ataxia 27

Articles related to Spinocerebellar Ataxia 27:

id Title Authors Year
1
Spinocerebellar Ataxia 27: Clinical Phenotype of Twin Sisters with FGF14 Deletion. ( 28192817 )
2017
2
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:

66
id Symbol AA change Variation ID SNP ID
1 FGF14 p.Phe145Ser VAR_022736 rs104894393

ClinVar genetic disease variations for Spinocerebellar Ataxia 27:

6
id 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.502delA (p.Arg168Aspfs) deletion Pathogenic rs587776685 GRCh37 Chromosome 13, 102379082: 102379082

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:

id Name GO ID Score Top Affiliating Genes
1 presynaptic membrane GO:0042734 8.96 GRM1 KCNA1
2 dendrite GO:0030425 8.8 CACNA1A GRM1 KCNA1

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

id Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.71 CACNA1A KCNA1 SLC17A7 XK
2 ion transport GO:0006811 9.54 CACNA1A KCNA1 SLC17A7
3 transmembrane transport GO:0055085 9.5 CACNA1A KCNA1 SLC17A7
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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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