SCAR27
MCID: SPN431
MIFTS: 27

Spinocerebellar Ataxia, Autosomal Recessive 27 (SCAR27)

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 27

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 27:

Name: Spinocerebellar Ataxia, Autosomal Recessive 27 57 29 6
Scar27 57 12 72
Spinocerebellar Ataxia, Autosomal Recessive, 27 72 17
Autosomal Recessive Spinocerebellar Ataxia 27 12 15

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
adult onset
slowly progressive
two unrelated patients have been reported (last curated march 2019)

Inheritance:
autosomal recessive


HPO:

31
spinocerebellar ataxia, autosomal recessive 27:
Inheritance autosomal recessive inheritance
Onset and clinical course adult onset slow progression


Classifications:



Summaries for Spinocerebellar Ataxia, Autosomal Recessive 27

UniProtKB/Swiss-Prot : 72 Spinocerebellar ataxia, autosomal recessive, 27: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR27 is a progressive disease characterized by gait difficulties, eye movement abnormalities, dysarthria, and difficulty writing. Some patients may lose independent ambulation. Additional features include spasticity of the lower limbs and cognitive impairment.

MalaCards based summary : Spinocerebellar Ataxia, Autosomal Recessive 27, also known as scar27, is related to ataxia and polyneuropathy, adult-onset and spinocerebellar ataxia 27. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 27 is GDAP2 (Ganglioside Induced Differentiation Associated Protein 2). Affiliated tissues include eye, liver and cerebellum, and related phenotypes are spasticity and hyperreflexia

Disease Ontology : 12 An autosomal recessive cerebellar ataxia characterized by adult onset of progressive gait difficulties and other cerebellar signs that has material basis in homozygous or compound heterozygous mutation in GDAP2 on chromosome 1p12.

OMIM® : 57 Autosomal recessive spinocerebellar ataxia-27 (SCAR27) is an adult-onset neurologic disorder characterized by gait difficulties and other cerebellar signs, such as eye movement abnormalities, dysarthria, and difficulty writing. The disorder is progressive, and some patients may lose independent ambulation. Additional features include spasticity of the lower limbs and cognitive impairment. Brain imaging shows cerebellar atrophy (summary by Eidhof et al., 2018). (618369) (Updated 20-May-2021)

Related Diseases for Spinocerebellar Ataxia, Autosomal Recessive 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 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

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

# Related Disease Score Top Affiliating Genes
1 ataxia and polyneuropathy, adult-onset 10.2
2 spinocerebellar ataxia 27 10.2
3 autosomal dominant cerebellar ataxia 10.2

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 27

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 27:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 spasticity 31 HP:0001257
2 hyperreflexia 31 HP:0001347
3 nystagmus 31 HP:0000639
4 depressivity 31 HP:0000716
5 dysarthria 31 HP:0001260
6 dysphagia 31 HP:0002015
7 mental deterioration 31 HP:0001268
8 gait ataxia 31 HP:0002066
9 torticollis 31 HP:0000473
10 cerebellar atrophy 31 HP:0001272
11 cerebral atrophy 31 HP:0002059
12 frequent falls 31 HP:0002359
13 gliosis 31 HP:0002171
14 hypermetric saccades 31 HP:0007338

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
spasticity
hyperreflexia
dysarthria
gait ataxia
cerebellar atrophy
more
Abdomen Gastrointestinal:
dysphagia

Neurologic Behavioral Psychiatric Manifestations:
behavioral abnormalities
depression
executive dysfunction

Head And Neck Eyes:
nystagmus
hypermetric saccades
jerky pursuit

Head And Neck Neck:
torticollis

Muscle Soft Tissue:
hypertonia of the lower limbs

Clinical features from OMIM®:

618369 (Updated 20-May-2021)

Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 27

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia, Autosomal Recessive 27

Genetic Tests for Spinocerebellar Ataxia, Autosomal Recessive 27

Genetic tests related to Spinocerebellar Ataxia, Autosomal Recessive 27:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia, Autosomal Recessive 27 29 GDAP2

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 27

MalaCards organs/tissues related to Spinocerebellar Ataxia, Autosomal Recessive 27:

40
Eye, Liver, Cerebellum, Spinal Cord

Publications for Spinocerebellar Ataxia, Autosomal Recessive 27

Articles related to Spinocerebellar Ataxia, Autosomal Recessive 27:

# Title Authors PMID Year
1
GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia. 6 57
30084953 2018
2
Erratum to: Reply: Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family. 61
32658981 2020
3
Reply: A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia; and Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family. 61
32428197 2020
4
Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family. 61
32437512 2020

Variations for Spinocerebellar Ataxia, Autosomal Recessive 27

ClinVar genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 27:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GDAP2 NM_017686.4(GDAP2):c.946C>T (p.Gln316Ter) SNV Pathogenic 624618 rs752352896 GRCh37: 1:118439462-118439462
GRCh38: 1:117896840-117896840
2 GDAP2 NM_017686.4(GDAP2):c.1305dup (p.Ser436fs) Duplication Pathogenic 624619 rs1557794465 GRCh37: 1:118420771-118420772
GRCh38: 1:117878149-117878150
3 GDAP2 NM_017686.4(GDAP2):c.1198_1199insG (p.His400fs) Insertion Pathogenic 624620 rs547792505 GRCh37: 1:118426158-118426159
GRCh38: 1:117883536-117883537

Expression for Spinocerebellar Ataxia, Autosomal Recessive 27

Search GEO for disease gene expression data for Spinocerebellar Ataxia, Autosomal Recessive 27.

Pathways for Spinocerebellar Ataxia, Autosomal Recessive 27

GO Terms for Spinocerebellar Ataxia, Autosomal Recessive 27

Sources for Spinocerebellar Ataxia, Autosomal Recessive 27

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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