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 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:

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® ⁵⁷ 618800

OMIM Phenotypic Series ⁵⁷ PS213200

MeSH ⁴⁴ D002524 D013132

MedGen ⁴¹ C5394101 CN263364

SNOMED-CT via HPO ⁶⁸ 128602000 14648003 22066006 more

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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)

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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

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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)

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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

Genetic tests related to Spinocerebellar Ataxia, Autosomal Recessive 28:

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

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Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 28

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

⁴⁰

Cerebellum, Spinal Cord

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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 ⁵⁷	Edvardson S...Elpeleg O	27307223	2016
2	Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia. ⁵⁷	Walker MA...Blumkin L	31168944	2019
3	Genomic and phenotypic delineation of congenital microcephaly. ⁵⁷	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	PubMed IDs
1	THG1L	TRNA-Histidine Guanylyltransferase 1 Like	Protein Coding	1007.92	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Variants (show sections)	27307223 1168944

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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
2	THG1L	NM_017872.5(THG1L):c.137C>A (p.Thr46Asn)	SNV	Uncertain significance	547932	rs746295635	5:157158585-157158585	5:157731577-157731577

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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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⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

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®:

HPO:

Classifications:

External Ids:

Summaries for Spinocerebellar Ataxia, Autosomal Recessive 28

Related Diseases for Spinocerebellar Ataxia, Autosomal Recessive 28

Diseases in the Spinocerebellar Ataxia 2 family:

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 28

Human phenotypes related to 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

Genetic tests related to 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