SCAR28
MCID: SPN440
MIFTS: 16

Spinocerebellar Ataxia, Autosomal Recessive 28 (SCAR28)

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 28

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 28:

Name: Spinocerebellar Ataxia, Autosomal Recessive 28 56 6
Scar28 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood
three families of ashkenazi jewish descent have been reported (last curated march 2020)


Classifications:



External Ids:

OMIM 56 618800
OMIM Phenotypic Series 56 PS213200

Summaries for Spinocerebellar Ataxia, Autosomal Recessive 28

OMIM : 56 Autosomal recessive spinocerebellar ataxia-28 (SCAR28) is a neurologic disorder characterized by onset in early childhood of mildly delayed motor development, gait ataxia, incoordination of fine motor movements, and dysarthria. Affected individuals may have features of spasticity and may show mildly impaired cognitive function. Brain imaging shows cerebellar vermis hypoplasia (summary by Walker et al., 2019). (618800)

MalaCards based summary : Spinocerebellar Ataxia, Autosomal Recessive 28, is also known as scar28. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 28 is THG1L (TRNA-Histidine Guanylyltransferase 1 Like). Affiliated tissues include brain.

Related Diseases for Spinocerebellar Ataxia, Autosomal Recessive 28

Diseases in the Spinocerebellar Ataxia 6 family:

Spinocerebellar Ataxia 31 Spinocerebellar Ataxia 29
Spinocerebellar Ataxia 34 Spinocerebellar Ataxia 1
Spinocerebellar Ataxia 7 Spinocerebellar Ataxia 2
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

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 28

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
strabismus
myopia
ocular movement abnormalities
nystagmus, horizontal gaze-evoked
slow smooth pursuit

Growth Height:
short stature (in some patients)

Neurologic Central Nervous System:
dysarthria
gait ataxia
cerebellar vermis hypoplasia
delayed motor development
impaired intellectual development, mild
more

Clinical features from OMIM:

618800

Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 28

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia, Autosomal Recessive 28

Genetic Tests for Spinocerebellar Ataxia, Autosomal Recessive 28

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 28

MalaCards organs/tissues related to Spinocerebellar Ataxia, Autosomal Recessive 28:

40
Brain

Publications for Spinocerebellar Ataxia, Autosomal Recessive 28

Articles related to Spinocerebellar Ataxia, Autosomal Recessive 28:

# Title Authors PMID Year
1
A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay. 6 56
27307223 2016
2
Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia. 56
31168944 2019
3
Genomic and phenotypic delineation of congenital microcephaly. 56
30214071 2019
4
[Ebstein's anomaly associated with a definite atrial left to right shunt (author's transl)]. 6
1168944 1975

Variations for Spinocerebellar Ataxia, Autosomal Recessive 28

ClinVar genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 28:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 THG1L NM_017872.5(THG1L):c.164T>C (p.Val55Ala)SNV Pathogenic 441070 rs201920319 5:157158612-157158612 5:157731604-157731604

Expression for Spinocerebellar Ataxia, Autosomal Recessive 28

Search GEO for disease gene expression data for Spinocerebellar Ataxia, Autosomal Recessive 28.

Pathways for Spinocerebellar Ataxia, Autosomal Recessive 28

GO Terms for Spinocerebellar Ataxia, Autosomal Recessive 28

Sources for Spinocerebellar Ataxia, Autosomal Recessive 28

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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