SCAR27
MCID: SPN431
MIFTS: 20

Spinocerebellar Ataxia, Autosomal Recessive 27 (SCAR27)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic 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 58 6
Scar27 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
adult onset
slowly progressive
two unrelated patients have been reported (last curated march 2019)


Classifications:



External Ids:

OMIM 58 618369

Summaries for Spinocerebellar Ataxia, Autosomal Recessive 27

OMIM : 58 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)

MalaCards based summary : Spinocerebellar Ataxia, Autosomal Recessive 27, is also known as scar27. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 27 is GDAP2 (Ganglioside Induced Differentiation Associated Protein 2). Affiliated tissues include eye, brain and cerebellum.

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 Type 19/22 Grid2-Related Spinocerebellar Ataxia
Spinocerebellar Ataxia Autosomal Recessive 5

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 27

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
hypermetric saccades
jerky pursuit

Abdomen Gastrointestinal:
dysphagia

Neurologic Behavioral Psychiatric Manifestations:
depression
executive dysfunction
behavioral abnormalities

Neurologic Central Nervous System:
spasticity
dysarthria
hyperreflexia
gait ataxia
cerebellar atrophy
more
Head And Neck Neck:
torticollis

Muscle Soft Tissue:
hypertonia of the lower limbs

Clinical features from OMIM:

618369

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

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 27

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

42
Eye, Brain, Cerebellum, Skin, Liver

Publications for Spinocerebellar Ataxia, Autosomal Recessive 27

Articles related to Spinocerebellar Ataxia, Autosomal Recessive 27:

# Title Authors Year
1
GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia. ( 30084953 )
2018

Variations for Spinocerebellar Ataxia, Autosomal Recessive 27

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GDAP2 NM_001135589.2(GDAP2): c.946C> T (p.Gln316Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 118439462: 118439462
2 GDAP2 NM_001135589.2(GDAP2): c.946C> T (p.Gln316Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 117896840: 117896840
3 GDAP2 NM_001135589.2(GDAP2): c.1305dup (p.Ser436Valfs) duplication Pathogenic GRCh38 Chromosome 1, 117878150: 117878150
4 GDAP2 NM_001135589.2(GDAP2): c.1305dup (p.Ser436Valfs) duplication Pathogenic GRCh37 Chromosome 1, 118420772: 118420772
5 GDAP2 NM_001135589.2(GDAP2): c.1198_1199insG (p.His400Argfs) insertion Pathogenic GRCh37 Chromosome 1, 118426158: 118426159
6 GDAP2 NM_001135589.2(GDAP2): c.1198_1199insG (p.His400Argfs) insertion Pathogenic GRCh38 Chromosome 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

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