SCAR7
MCID: SPN201
MIFTS: 33

Spinocerebellar Ataxia, Autosomal Recessive 7 (SCAR7)

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, Autosomal Recessive 7

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 7:

Name: Spinocerebellar Ataxia, Autosomal Recessive 7 58 13 74
Scar7 58 54 60 76
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia 60 30 6
Autosomal Recessive Spinocerebellar Ataxia 7 12 15
Childhood Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia 54
Ataxia, Spinocerebellar, Autosomal Recessive, Type 7 41
Autosomal Recessive Spinocerebellar Ataxia Type 7 60
Spinocerebellar Ataxia, Autosomal Recessive, 7 76
Spinocerebellar Ataxia Autosomal Recessive 7 54

Characteristics:

Orphanet epidemiological data:

60
childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
slow progression
onset in childhood or as young adult
highly variable intrafamilial severity


HPO:

33
spinocerebellar ataxia, autosomal recessive 7:
Onset and clinical course slow progression juvenile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia, Autosomal Recessive 7

NIH Rare Diseases : 54 Spinocerebellar ataxiaautosomal recessive 7, also called SCAR7, is a slowly progressive hereditary form of spinocerebellar ataxia.  Symptoms of SCAR7 can include difficulty walking and writing, speech difficulties (dysarthria), limb ataxia, and a decrease in the size of a region of the brain called the cerebellum (cerebellar atrophy). Of the few reported cases in the literature, some patients also had eye involvement that included nystagmus (in voluntary eye movements) and saccadic pursuit eye movements.  Out of 5 affected siblings examined in a large Dutch family, 2 became wheelchair-dependent late in life. The severity of the symptoms varies from mild to severe.  SCAR7 is caused by mutations in the TPP1 gene and is inherited in an autosomal recessive manner.  

MalaCards based summary : Spinocerebellar Ataxia, Autosomal Recessive 7, also known as scar7, is related to spinocerebellar ataxia 7 and ceroid lipofuscinosis, neuronal, 2, and has symptoms including gait ataxia, cerebellar ataxia and static tremor. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 7 is TPP1 (Tripeptidyl Peptidase 1). Affiliated tissues include eye, cerebellum and brain, and related phenotypes are progressive cerebellar ataxia and diplopia

OMIM : 58 Autosomal recessive spinocerebellar ataxia is a neurologic disorder characterized by onset of progressive gait difficulties, eye movement abnormalities, and dysarthria in the first or second decade of life (summary by Dy et al., 2015). (609270)

UniProtKB/Swiss-Prot : 76 Spinocerebellar ataxia, autosomal recessive, 7: Spinocerebellar ataxia defines 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. SCAR7 patients show difficulty walking and writing, dysarthria, limb ataxia, and cerebellar atrophy.

Related Diseases for Spinocerebellar Ataxia, Autosomal Recessive 7

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, Autosomal Recessive 7 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 7 10.0
2 ceroid lipofuscinosis, neuronal, 2 10.0
3 ceroid lipofuscinosis, neuronal, 1 10.0
4 ataxia and polyneuropathy, adult-onset 10.0
5 autosomal dominant cerebellar ataxia 10.0
6 neuronal ceroid lipofuscinosis 10.0

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia, Autosomal Recessive 7:



Diseases related to Spinocerebellar Ataxia, Autosomal Recessive 7

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 7

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 7:

60 33 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive cerebellar ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002073
2 diplopia 60 33 frequent (33%) Frequent (79-30%) HP:0000651
3 dysarthria 60 33 frequent (33%) Frequent (79-30%) HP:0001260
4 hyperreflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001347
5 limb ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0002070
6 babinski sign 60 33 frequent (33%) Frequent (79-30%) HP:0003487
7 dysmetria 60 33 frequent (33%) Frequent (79-30%) HP:0001310
8 clumsiness 60 33 frequent (33%) Frequent (79-30%) HP:0002312
9 difficulty walking 60 33 frequent (33%) Frequent (79-30%) HP:0002355
10 saccadic smooth pursuit 60 33 frequent (33%) Frequent (79-30%) HP:0001152
11 horizontal nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000666
12 progressive gait ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0007240
13 cerebellar atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0001272
14 oculomotor apraxia 60 33 frequent (33%) Frequent (79-30%) HP:0000657
15 scanning speech 60 33 frequent (33%) Frequent (79-30%) HP:0002168
16 impaired vibratory sensation 60 33 frequent (33%) Frequent (79-30%) HP:0002495
17 broad-based gait 60 33 frequent (33%) Frequent (79-30%) HP:0002136
18 dysmetric saccades 60 33 frequent (33%) Frequent (79-30%) HP:0000641
19 postural tremor 60 33 occasional (7.5%) Occasional (29-5%) HP:0002174
20 emg: neuropathic changes 60 33 occasional (7.5%) Occasional (29-5%) HP:0003445
21 nystagmus 33 HP:0000639
22 seizures 60 Excluded (0%)
23 ataxia 33 HP:0001251
24 gait ataxia 33 HP:0002066
25 hypermetric saccades 33 HP:0007338

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
diplopia
hypermetric saccades
saccadic pursuit movements

Neurologic Central Nervous System:
nystagmus
dysarthria
hyperreflexia
gait ataxia
limb ataxia
more

Clinical features from OMIM:

609270

UMLS symptoms related to Spinocerebellar Ataxia, Autosomal Recessive 7:


gait ataxia, cerebellar ataxia, static tremor

Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 7

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Subcuticular Suture Versus Staples for Closure of the Skin After Caesarean Section. Completed NCT01217567 Not Applicable
2 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Spinocerebellar Ataxia, Autosomal Recessive 7

Genetic Tests for Spinocerebellar Ataxia, Autosomal Recessive 7

Genetic tests related to Spinocerebellar Ataxia, Autosomal Recessive 7:

# Genetic test Affiliating Genes
1 Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia 30 TPP1

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 7

MalaCards organs/tissues related to Spinocerebellar Ataxia, Autosomal Recessive 7:

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

Publications for Spinocerebellar Ataxia, Autosomal Recessive 7

Articles related to Spinocerebellar Ataxia, Autosomal Recessive 7:

# Title Authors Year
1
TPP1 deficiency: Rare cause of isolated childhood-onset progressive ataxia. ( 26224725 )
2015
2
Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease). ( 23418007 )
2013
3
A new locus for a childhood onset, slowly progressive autosomal recessive spinocerebellar ataxia maps to chromosome 11p15. ( 15520412 )
2004
4
Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. ( 9295267 )
1997

Variations for Spinocerebellar Ataxia, Autosomal Recessive 7

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 7:

76
# Symbol AA change Variation ID SNP ID
1 TPP1 p.Val466Gly VAR_070917 rs398122959

ClinVar genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 7:

6 (show all 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 TPP1 NM_000391.3(TPP1): c.622C> T (p.Arg208Ter) single nucleotide variant Pathogenic rs119455955 GRCh37 Chromosome 11, 6638271: 6638271
2 TPP1 NM_000391.3(TPP1): c.622C> T (p.Arg208Ter) single nucleotide variant Pathogenic rs119455955 GRCh38 Chromosome 11, 6617040: 6617040
3 TPP1 NM_000391.3(TPP1): c.509-1G> C single nucleotide variant Pathogenic rs56144125 GRCh37 Chromosome 11, 6638385: 6638385
4 TPP1 NM_000391.3(TPP1): c.509-1G> C single nucleotide variant Pathogenic rs56144125 GRCh38 Chromosome 11, 6617154: 6617154
5 TPP1 NM_000391.3(TPP1): c.851G> T (p.Gly284Val) single nucleotide variant Pathogenic rs119455957 GRCh37 Chromosome 11, 6637927: 6637927
6 TPP1 NM_000391.3(TPP1): c.851G> T (p.Gly284Val) single nucleotide variant Pathogenic rs119455957 GRCh38 Chromosome 11, 6616696: 6616696
7 TPP1 NM_000391.3(TPP1): c.1397T> G (p.Val466Gly) single nucleotide variant Pathogenic rs398122959 GRCh37 Chromosome 11, 6636430: 6636430
8 TPP1 NM_000391.3(TPP1): c.1397T> G (p.Val466Gly) single nucleotide variant Pathogenic rs398122959 GRCh38 Chromosome 11, 6615199: 6615199
9 TPP1 NM_000391.3(TPP1): c.1526A> G (p.Gln509Arg) single nucleotide variant Uncertain significance rs149529997 GRCh38 Chromosome 11, 6614891: 6614891
10 TPP1 NM_000391.3(TPP1): c.1526A> G (p.Gln509Arg) single nucleotide variant Uncertain significance rs149529997 GRCh37 Chromosome 11, 6636122: 6636122
11 TPP1 NM_000391.3(TPP1): c.1280C> T (p.Thr427Met) single nucleotide variant Uncertain significance rs201034755 GRCh37 Chromosome 11, 6636547: 6636547
12 TPP1 NM_000391.3(TPP1): c.1280C> T (p.Thr427Met) single nucleotide variant Uncertain significance rs201034755 GRCh38 Chromosome 11, 6615316: 6615316
13 TPP1 NM_000391.3(TPP1): c.1138G> A (p.Ala380Thr) single nucleotide variant Uncertain significance rs190013230 GRCh37 Chromosome 11, 6637243: 6637243
14 TPP1 NM_000391.3(TPP1): c.1138G> A (p.Ala380Thr) single nucleotide variant Uncertain significance rs190013230 GRCh38 Chromosome 11, 6616012: 6616012
15 TPP1 NM_000391.3(TPP1): c.776G> A (p.Arg259His) single nucleotide variant Uncertain significance rs140176031 GRCh38 Chromosome 11, 6616771: 6616771
16 TPP1 NM_000391.3(TPP1): c.776G> A (p.Arg259His) single nucleotide variant Uncertain significance rs140176031 GRCh37 Chromosome 11, 6638002: 6638002
17 TPP1 NM_000391.3(TPP1): c.379C> T (p.Arg127Ter) single nucleotide variant Pathogenic rs756564767 GRCh38 Chromosome 11, 6617627: 6617627
18 TPP1 NM_000391.3(TPP1): c.379C> T (p.Arg127Ter) single nucleotide variant Pathogenic rs756564767 GRCh37 Chromosome 11, 6638858: 6638858
19 TPP1 NM_000391.3(TPP1): c.319G> A (p.Gly107Arg) single nucleotide variant Uncertain significance rs201613668 GRCh38 Chromosome 11, 6617687: 6617687
20 TPP1 NM_000391.3(TPP1): c.319G> A (p.Gly107Arg) single nucleotide variant Uncertain significance rs201613668 GRCh37 Chromosome 11, 6638918: 6638918
21 TPP1 NM_000391.3(TPP1): c.101G> A (p.Gly34Asp) single nucleotide variant Uncertain significance rs138448968 GRCh38 Chromosome 11, 6618904: 6618904
22 TPP1 NM_000391.3(TPP1): c.101G> A (p.Gly34Asp) single nucleotide variant Uncertain significance rs138448968 GRCh37 Chromosome 11, 6640135: 6640135
23 TPP1 NM_000391.3(TPP1): c.1029G> C (p.Glu343Asp) single nucleotide variant Pathogenic rs886037833 GRCh37 Chromosome 11, 6637592: 6637592
24 TPP1 NM_000391.3(TPP1): c.1029G> C (p.Glu343Asp) single nucleotide variant Pathogenic rs886037833 GRCh38 Chromosome 11, 6616361: 6616361
25 TPP1 NM_000391.3(TPP1): c.902A> C (p.Gln301Pro) single nucleotide variant not provided GRCh37 Chromosome 11, 6637719: 6637719
26 TPP1 NM_000391.3(TPP1): c.902A> C (p.Gln301Pro) single nucleotide variant not provided GRCh38 Chromosome 11, 6616488: 6616488
27 TPP1 NM_000391.4(TPP1): c.1080C> A (p.Asp360Glu) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 6616070: 6616070
28 TPP1 NM_000391.4(TPP1): c.1080C> A (p.Asp360Glu) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 6637301: 6637301

Expression for Spinocerebellar Ataxia, Autosomal Recessive 7

Search GEO for disease gene expression data for Spinocerebellar Ataxia, Autosomal Recessive 7.

Pathways for Spinocerebellar Ataxia, Autosomal Recessive 7

GO Terms for Spinocerebellar Ataxia, Autosomal Recessive 7

Sources for Spinocerebellar Ataxia, Autosomal Recessive 7

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