SCA48
MCID: SPN427
MIFTS: 24

Spinocerebellar Ataxia 48 (SCA48)

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 48

MalaCards integrated aliases for Spinocerebellar Ataxia 48:

Name: Spinocerebellar Ataxia 48 58 76 6
Sca48 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
onset in mid-adulthood
patients may present with either cognitive-affective symptoms or motor symptoms
one spanish family has been reported (last curated november 2018)


HPO:

33
spinocerebellar ataxia 48:
Onset and clinical course progressive


Classifications:



External Ids:

OMIM 58 618093
MeSH 45 D020754
MedGen 43 CN257775

Summaries for Spinocerebellar Ataxia 48

UniProtKB/Swiss-Prot : 76 Spinocerebellar ataxia 48: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA48 is an autosomal dominant neurodegenerative disease characterized by onset in mid- adulthood of progressive cognitive decline and gait ataxia, and vermian and hemispheric cerebellar atrophy.

MalaCards based summary : Spinocerebellar Ataxia 48, also known as sca48, is related to ataxia and polyneuropathy, adult-onset. An important gene associated with Spinocerebellar Ataxia 48 is STUB1 (STIP1 Homology And U-Box Containing Protein 1). Affiliated tissues include eye, brain and spinal cord, and related phenotypes are dysarthria and anxiety

OMIM : 58 SCA48 is an autosomal dominant neurodegenerative disorder characterized by onset of gait ataxia and/or cognitive-affective symptoms in mid-adulthood. Patients may present with involvement of either system, but most eventually develop impairment in both. Features include gait ataxia, dysarthria, and dysphagia, as well as anxiety and deficits in executive function. Brain imaging shows selective atrophy of the posterior areas of the cerebellar vermis (summary by Genis et al., 2018). (618093)

Related Diseases for Spinocerebellar Ataxia 48

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

Diseases related to Spinocerebellar Ataxia 48 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ataxia and polyneuropathy, adult-onset 10.1

Symptoms & Phenotypes for Spinocerebellar Ataxia 48

Human phenotypes related to Spinocerebellar Ataxia 48:

33
# Description HPO Frequency HPO Source Accession
1 dysarthria 33 HP:0001260
2 anxiety 33 HP:0000739
3 gait ataxia 33 HP:0002066
4 cerebellar atrophy 33 HP:0001272

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
dysarthria
gait ataxia
cerebellar atrophy
cognitive dysfunction
spinocerebellar ataxia

Neurologic Behavioral Psychiatric Manifestations:
anxiety
executive dysfunction

Head And Neck Eyes:
ocular dysmetria

Abdomen Gastrointestinal:
dysphagia

Genitourinary Bladder:
urinary incontinence

Clinical features from OMIM:

618093

Drugs & Therapeutics for Spinocerebellar Ataxia 48

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia 48

Genetic Tests for Spinocerebellar Ataxia 48

Anatomical Context for Spinocerebellar Ataxia 48

MalaCards organs/tissues related to Spinocerebellar Ataxia 48:

42
Eye, Brain, Spinal Cord, Cerebellum, Skin, Liver

Publications for Spinocerebellar Ataxia 48

Articles related to Spinocerebellar Ataxia 48:

# Title Authors Year
1
Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48). ( 30381368 )
2018

Variations for Spinocerebellar Ataxia 48

ClinVar genetic disease variations for Spinocerebellar Ataxia 48:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 STUB1 NM_005861.3(STUB1): c.823_824delCT (p.Leu275Aspfs) deletion Pathogenic GRCh37 Chromosome 16, 732400: 732401
2 STUB1 NM_005861.3(STUB1): c.823_824delCT (p.Leu275Aspfs) deletion Pathogenic GRCh38 Chromosome 16, 682400: 682401

Expression for Spinocerebellar Ataxia 48

Search GEO for disease gene expression data for Spinocerebellar Ataxia 48.

Pathways for Spinocerebellar Ataxia 48

GO Terms for Spinocerebellar Ataxia 48

Sources for Spinocerebellar Ataxia 48

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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