MCID: SPN100
MIFTS: 44

Spinocerebellar Ataxia 27

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

Aliases & Classifications for Spinocerebellar Ataxia 27

MalaCards integrated aliases for Spinocerebellar Ataxia 27:

Name: Spinocerebellar Ataxia 27 54 50 71 29 13 69
Spinocerebellar Ataxia Type 27 12 50 56 14
Sca27 50 56 71
Cerebellar Ataxia Autosomal Dominant Fgf14-Related 50 71

Characteristics:

Orphanet epidemiological data:

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

OMIM:

54
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: 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 : 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 spinocerebellar ataxia type27 and ataxia, and has symptoms including dysarthria, strabismus and depression. 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, eye and cerebellum, and related phenotypes are behavior/neurological and growth/size/body region

NIH Rare Diseases : 50 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 21 Spinocerebellar Ataxia, Autosomal Recessive 4
Spinocerebellar Ataxia 37 Spinocerebellar Ataxia 19
Spinocerebellar Ataxia, Autosomal Recessive 11 Spinocerebellar Ataxia 25
Spinocerebellar Ataxia, Autosomal Recessive 22 Spinocerebellar Ataxia 15
Spinocerebellar Ataxia, Autosomal Recessive 10 Spinocerebellar Ataxia 7
Spinocerebellar Ataxia 43 Spinocerebellar Ataxia, Autosomal Recessive 24
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, Autosomal Recessive 23
Spinocerebellar Ataxia 38 Spinocerebellar Ataxia 34
Spinocerebellar Ataxia, Autosomal Recessive 20 Spinocerebellar Ataxia, Autosomal Recessive 25
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, Autosomal Recessive 21 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 4
Spinocerebellar Ataxia, Autosomal Recessive 12 Spinocerebellar Ataxia 42
Spinocerebellar Ataxia 28 Spinocerebellar Ataxia 26
Spinocerebellar Ataxia 6 Spinocerebellar Ataxia, Autosomal Recessive 26
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

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

(show all 14)
id Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia type27 10.8
2 ataxia 10.0
3 spastic ataxia 5, autosomal recessive 9.8 FGF14 GRM1
4 hemochromatosis, type 2b 9.8 CACNA1A KCNA1
5 spinocerebellar ataxia 6 9.7 CACNA1A KCNA1
6 atrial fibrillation, familial, 7 9.7 CACNA1A KCNA1
7 grid2-related spinocerebellar ataxia 9.6 CACNA1A GRM1
8 epileptic encephalopathy, early infantile, 42 9.6 CACNA1A KCNA1
9 babesiosis 9.4 CACNA1A KCNA1
10 hepatic angiomyolipoma 9.4 CACNA1A GRM1
11 dipetalonemiasis 9.3 CACNA1A FGF14
12 bruck syndrome 2 9.1 CACNA1A FGF14 GRM1
13 benign focal amyotrophy 9.0 CACNA1A FGF14 KCNA1
14 oguchi disease-2 8.1 CACNA1A FGF14 GRM1 KCNA1 SLC17A7

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:

54

Neurologic- Central Nervous System:
dysarthria
memory loss
cerebellar ataxia
gait ataxia
truncal ataxia
more
Neurologic- Behavioral Psychiatric Manifestations:
depression
aggressive outbursts

Head And Neck- Face:
orofacial dyskinesias

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

Skeletal- Feet:
pes cavus

Neurologic- Peripheral Nervous System:
sensory axonal neuropathy, mild


Clinical features from OMIM:

609307

Human phenotypes related to Spinocerebellar Ataxia 27:

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

UMLS symptoms related to Spinocerebellar Ataxia 27:


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

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 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:


id 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:

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
Spinal Cord, Eye, 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:

71
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 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:

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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