MCID: SPN201
MIFTS: 32

Spinocerebellar Ataxia, Autosomal Recessive 7

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Eye diseases, Mental diseases, Ear diseases, Metabolic diseases, Fetal diseases, Liver diseases

Aliases & Classifications for Spinocerebellar Ataxia, Autosomal Recessive 7

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 7:

Name: Spinocerebellar Ataxia, Autosomal Recessive 7 57 13 73
Scar7 57 53 59 75
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia 59 29 6
Autosomal Recessive Spinocerebellar Ataxia 7 12 15
Childhood Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia 53
Ataxia, Spinocerebellar, Autosomal Recessive, Type 7 40
Autosomal Recessive Spinocerebellar Ataxia Type 7 59
Spinocerebellar Ataxia, Autosomal Recessive, 7 75
Spinocerebellar Ataxia Autosomal Recessive 7 53

Characteristics:

Orphanet epidemiological data:

59
childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
spinocerebellar ataxia, autosomal recessive 7:
Onset and clinical course slow progression juvenile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia, Autosomal Recessive 7

NIH Rare Diseases : 53 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, 1, and has symptoms including cerebellar ataxia, static tremor and gait ataxia. 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 diplopia and dysarthria

OMIM : 57 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 : 75 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, Autosomal Recessive 1
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 Type 16
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 9.9
2 ceroid lipofuscinosis, neuronal, 1 9.9
3 autosomal dominant cerebellar ataxia 9.9
4 neuronal ceroid lipofuscinosis 9.9
5 neuronitis 9.9

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 7:

59 32 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diplopia 59 32 frequent (33%) Frequent (79-30%) HP:0000651
2 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
3 hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001347
4 limb ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002070
5 babinski sign 59 32 frequent (33%) Frequent (79-30%) HP:0003487
6 dysmetria 59 32 frequent (33%) Frequent (79-30%) HP:0001310
7 clumsiness 59 32 frequent (33%) Frequent (79-30%) HP:0002312
8 difficulty walking 59 32 frequent (33%) Frequent (79-30%) HP:0002355
9 progressive cerebellar ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002073
10 saccadic smooth pursuit 59 32 frequent (33%) Frequent (79-30%) HP:0001152
11 postural tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0002174
12 horizontal nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000666
13 cerebellar atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0001272
14 oculomotor apraxia 59 32 frequent (33%) Frequent (79-30%) HP:0000657
15 scanning speech 59 32 frequent (33%) Frequent (79-30%) HP:0002168
16 impaired vibratory sensation 59 32 frequent (33%) Frequent (79-30%) HP:0002495
17 progressive gait ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0007240
18 broad-based gait 59 32 frequent (33%) Frequent (79-30%) HP:0002136
19 dysmetric saccades 59 32 frequent (33%) Frequent (79-30%) HP:0000641
20 nystagmus 32 HP:0000639
21 seizures 59 Excluded (0%)
22 ataxia 32 HP:0001251
23 gait ataxia 32 HP:0002066
24 emg: neuropathic changes 59 Occasional (29-5%)
25 hypermetric saccades 32 HP:0007338
26 emg 32 occasional (7.5%) HP:0003445

UMLS symptoms related to Spinocerebellar Ataxia, Autosomal Recessive 7:


cerebellar ataxia, static tremor, gait ataxia

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 29 TPP1

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 7

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

41
Eye, Cerebellum, Brain, Spinal Cord, Skin

Publications for Spinocerebellar Ataxia, Autosomal Recessive 7

Articles related to Spinocerebellar Ataxia, Autosomal Recessive 7:

# Title Authors Year
1
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

Variations for Spinocerebellar Ataxia, Autosomal Recessive 7

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

75
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 TPP1 NM_000391.3(TPP1): c.509-1G> C single nucleotide variant Pathogenic rs56144125 GRCh37 Chromosome 11, 6638385: 6638385
2 TPP1 NM_000391.3(TPP1): c.509-1G> C single nucleotide variant Pathogenic rs56144125 GRCh38 Chromosome 11, 6617154: 6617154
3 TPP1 NM_000391.3(TPP1): c.1397T> G (p.Val466Gly) single nucleotide variant Pathogenic rs398122959 GRCh37 Chromosome 11, 6636430: 6636430
4 TPP1 NM_000391.3(TPP1): c.1397T> G (p.Val466Gly) single nucleotide variant Pathogenic rs398122959 GRCh38 Chromosome 11, 6615199: 6615199
5 TPP1 NM_000391.3(TPP1): c.1029G> C (p.Glu343Asp) single nucleotide variant Pathogenic rs886037833 GRCh37 Chromosome 11, 6637592: 6637592
6 TPP1 NM_000391.3(TPP1): c.1029G> C (p.Glu343Asp) single nucleotide variant Pathogenic rs886037833 GRCh38 Chromosome 11, 6616361: 6616361
7 TPP1 NC_000011.9: g.6638385G> C single nucleotide variant not provided GRCh37 Chromosome 11, 6638385: 6638385

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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74 UMLS via Orphanet
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