SCAR28
MCID: SPN440
MIFTS: 22

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 57 29 6
Scar28 57 73
Spinocerebellar Ataxia, Autosomal Recessive, 28 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

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


HPO:

31
spinocerebellar ataxia, autosomal recessive 28:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 618800
OMIM Phenotypic Series 57 PS213200

Summaries for Spinocerebellar Ataxia, Autosomal Recessive 28

UniProtKB/Swiss-Prot : 73 Spinocerebellar ataxia, autosomal recessive, 28: 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. SCAR28 patients manifest mild motor developmental delay, gait ataxia, and dysarthria. Some patients show mildly impaired intellectual development. Disease onset is in early childhood.

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 cerebellum and spinal cord, and related phenotypes are abnormal pyramidal sign and dysarthria

OMIM® : 57 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) (Updated 05-Mar-2021)

Related Diseases for Spinocerebellar Ataxia, Autosomal Recessive 28

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

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 28

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 28:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 abnormal pyramidal sign 31 very rare (1%) HP:0007256
2 dysarthria 31 very rare (1%) HP:0001260
3 optic atrophy 31 very rare (1%) HP:0000648
4 strabismus 31 very rare (1%) HP:0000486
5 motor delay 31 very rare (1%) HP:0001270
6 cerebellar vermis hypoplasia 31 very rare (1%) HP:0001320
7 truncal titubation 31 very rare (1%) HP:0030147
8 short stature 31 HP:0004322
9 intellectual disability, mild 31 HP:0001256
10 myopia 31 HP:0000545
11 gait ataxia 31 HP:0002066
12 poor fine motor coordination 31 HP:0007010
13 impaired smooth pursuit 31 HP:0007772
14 gaze-evoked horizontal nystagmus 31 HP:0007979

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
dysarthria
gait ataxia
cerebellar vermis hypoplasia
delayed motor development
impaired intellectual development, mild
more
Growth Height:
short stature (in some patients)

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

Clinical features from OMIM®:

618800 (Updated 05-Mar-2021)

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

Genetic tests related to Spinocerebellar Ataxia, Autosomal Recessive 28:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia, Autosomal Recessive 28 29 THG1L

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 28

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

40
Cerebellum, Spinal Cord

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 57
27307223 2016
2
Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia. 57
31168944 2019
3
Genomic and phenotypic delineation of congenital microcephaly. 57
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
2 THG1L NM_017872.5(THG1L):c.137C>A (p.Thr46Asn) SNV Uncertain significance 547932 rs746295635 5:157158585-157158585 5:157731577-157731577

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
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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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