Spinocerebellar Ataxia, Autosomal Recessive 28 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Liver diseases Skin diseases Ear diseases Muscle diseases Mental diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 618800

OMIM Phenotypic Series ⁵⁶ PS213200

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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.

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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

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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

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Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 28

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

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Genetic Tests for Spinocerebellar Ataxia, Autosomal Recessive 28

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Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 28

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

⁴⁰

Brain

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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	Edvardson S...Elpeleg O	27307223	2016
2	Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia. ⁵⁶	Walker MA...Blumkin L	31168944	2019
3	Genomic and phenotypic delineation of congenital microcephaly. ⁵⁶	Shaheen R...Alkuraya FS	30214071	2019
4	[Ebstein's anomaly associated with a definite atrial left to right shunt (author's transl)]. ⁶	Yokoyama M...Konno S	1168944	1975

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Genes for Spinocerebellar Ataxia, Autosomal Recessive 28

Genes related to Spinocerebellar Ataxia, Autosomal Recessive 28 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	THG1L	TRNA-Histidine Guanylyltransferase 1 Like	Protein Coding	907.67	Molecular basis known ⁵⁶ Pathogenic ⁶ GeneCards inferred via : Variants (show sections)	1168944 27307223

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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

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Expression for Spinocerebellar Ataxia, Autosomal Recessive 28

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

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Pathways for Spinocerebellar Ataxia, Autosomal Recessive 28

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GO Terms for Spinocerebellar Ataxia, Autosomal Recessive 28

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Sources for Spinocerebellar Ataxia, Autosomal Recessive 28

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⁷⁴ Wikipedia

Spinocerebellar Ataxia, Autosomal Recessive 28 (SCAR28)

Aliases & Classifications for Spinocerebellar Ataxia, Autosomal Recessive 28

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 28:

Characteristics:

OMIM:

Classifications:

External Ids:

Summaries for Spinocerebellar Ataxia, Autosomal Recessive 28

Related Diseases for Spinocerebellar Ataxia, Autosomal Recessive 28

Diseases in the Spinocerebellar Ataxia 6 family:

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 28

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics 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:

Publications for Spinocerebellar Ataxia, Autosomal Recessive 28

Articles related to Spinocerebellar Ataxia, Autosomal Recessive 28:

Genes for Spinocerebellar Ataxia, Autosomal Recessive 28

Genes related to Spinocerebellar Ataxia, Autosomal Recessive 28 (1 elite genes):

Variations for Spinocerebellar Ataxia, Autosomal Recessive 28

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

Expression 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