SCAR7
MCID: SPN201
MIFTS: 45

Spinocerebellar Ataxia, Autosomal Recessive 7 (SCAR7)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle 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 57 13 70
Scar7 57 20 58 72
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia 58 29 6
Autosomal Recessive Spinocerebellar Ataxia 7 12 15
Childhood Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia 20
Ataxia, Spinocerebellar, Autosomal Recessive, Type 7 39
Autosomal Recessive Spinocerebellar Ataxia Type 7 58
Spinocerebellar Ataxia, Autosomal Recessive, 7 72
Spinocerebellar Ataxia Autosomal Recessive 7 20

Characteristics:

Orphanet epidemiological data:

58
childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
slow progression
onset in childhood or as young adult
highly variable intrafamilial severity

Inheritance:
autosomal recessive


HPO:

31
spinocerebellar ataxia, autosomal recessive 7:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0080059
OMIM® 57 609270
OMIM Phenotypic Series 57 PS213200
ICD10 via Orphanet 33 G11.1
UMLS via Orphanet 71 C1836474
Orphanet 58 ORPHA284324
MedGen 41 C1836474
UMLS 70 C1836474

Summaries for Spinocerebellar Ataxia, Autosomal Recessive 7

GARD : 20 Spinocerebellar ataxia autosomal 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 ceroid lipofuscinosis, neuronal, 6 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), and among its related pathways/superpathways are Lysosome and Antifolate resistance. Affiliated tissues include eye, cerebellum and spinal cord, and related phenotypes are progressive cerebellar ataxia and hyperreflexia

Disease Ontology : 12 An autosomal recessive cerebellar ataxia that is characterized by onset of progressive gait difficulties, eye movement abnormalities, and dysarthria in the first or second decade of life and that has material basis in compound heterozygous mutation in the TPP1 gene on chromosome 11p15.

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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Spinocerebellar ataxia, autosomal recessive, 7: 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. 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, Autosomal Recessive 28 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:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 ceroid lipofuscinosis, neuronal, 6 29.5 TPP1 MFSD8 CLN8 CLN6 CLN5
2 ceroid lipofuscinosis, neuronal, 2 27.8 TPP1 PPT1 MFSD8 DNAJC5 CTSD CLN8
3 neuronal ceroid-lipofuscinoses 27.3 TPP1 PPT1 MFSD8 GRN DNAJC5 CTSF
4 ceroid lipofuscinosis, neuronal, 3 27.1 TPP1 PPT1 MFSD8 KCTD7 DNAJC5 CTSF
5 neuronal ceroid lipofuscinosis 26.8 TPP1 PPT1 MFSD8 KCTD7 GRN DNAJC5
6 progressive myoclonus epilepsy 1b 10.3 MFSD8 KCTD7
7 epilepsy, idiopathic generalized 5 10.3 KCTD7 CLN8
8 mannosidosis, alpha b, lysosomal 10.2 MFSD8 CLN6
9 progressive myoclonus epilepsy 1a 10.2 PPT1 KCTD7
10 mucopolysaccharidosis, type iiib 10.1 TPP1 CLN6
11 early myoclonic encephalopathy 10.1 KCTD7 CLN8 CLN6
12 central core myopathy 10.1 PPT1 CLN8
13 syphilitic meningitis 10.0 TNF DNAJC5
14 peripheral retinal degeneration 9.9 CLN5 CLN3
15 glycoproteinosis 9.9 CLN6 CLN3
16 tay-sachs disease 9.9 TPP1 CLN6 CLN3
17 clonorchiasis 9.9 TNF GRN CTSF
18 opisthorchiasis 9.9 TNF GRN CTSF
19 spinocerebellar ataxia 7 9.9
20 ataxia and polyneuropathy, adult-onset 9.9
21 hereditary ataxia 9.9
22 autosomal dominant cerebellar ataxia 9.9
23 aspartylglucosaminuria 9.8 CLN6 CLN5 CLN3
24 fascioliasis 9.8 GRN CTSF
25 progressive myoclonus epilepsy 3 9.7 TPP1 PPT1 MFSD8 KCTD7 CLN8 CLN6
26 progressive myoclonus epilepsy 9.7 TPP1 KCTD7 CLN6 CLN5 CLN3
27 dementia, lewy body 9.6 GRN CTSD ATP13A2
28 mucolipidosis 9.6 CTSD CLN6 CLN3
29 adult neuronal ceroid lipofuscinosis 9.5 TPP1 PPT1 GRN DNAJC5 CTSF CLN6
30 amyloidosis 9.4 TNF SAA4 CTSD
31 unverricht-lundborg syndrome 9.4 PPT1 MFSD8 KCTD7 CLN6 CLN5 CLN3
32 ceroid lipofuscinosis, neuronal, 9 9.3 MFSD8 KCTD7 DNAJC5 CLN8 CLN6 CLN5
33 mucopolysaccharidosis, type iiia 9.3 TPP1 PPT1 DNAJC5 CLN6 CLN5 CLN3
34 dementia 9.1 TNF MFSD8 GRN DNAJC5 CTSD ATP13A2
35 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 9.1 TPP1 PPT1 DNAJC5 CTSD CLN6 CLN3
36 visual epilepsy 9.1 PPT1 MFSD8 KCTD7 DNAJC5 CLN8 CLN6
37 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 9.1 PPT1 MFSD8 KCTD7 DNAJC5 CLN8 CLN6
38 lipid storage disease 9.1 TPP1 TNF PPT1 CLN8 CLN6 CLN5
39 mucopolysaccharidosis-plus syndrome 8.9 TPP1 PPT1 DNAJC5 CTSD CLN6 CLN5
40 mucopolysaccharidosis iii 8.8 TPP1 PPT1 MFSD8 DNAJC5 CTSD CLN6
41 lysosomal storage disease 8.8 TPP1 TNF PPT1 CTSD CLN6 CLN5
42 disease of mental health 8.6 TNF GRN DNAJC5 CTSD CLN8 CLN3
43 ceroid lipofuscinosis, neuronal, 11 8.5 PPT1 MFSD8 KCTD7 GRN DNAJC5 CTSF
44 ceroid lipofuscinosis, neuronal, 1 8.2 TPP1 PPT1 MFSD8 KCTD7 DNAJC5 CTSF
45 ceroid lipofuscinosis, neuronal, 13 8.2 TPP1 PPT1 MFSD8 KCTD7 DNAJC5 CTSF
46 ceroid lipofuscinosis, neuronal, 7 8.2 TPP1 PPT1 MFSD8 KCTD7 DNAJC5 CTSF
47 ceroid lipofuscinosis, neuronal, 10 8.0 TPP1 PPT1 MFSD8 KCTD7 GRN DNAJC5

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:

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive cerebellar ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002073
2 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
3 diplopia 58 31 frequent (33%) Frequent (79-30%) HP:0000651
4 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
5 dysmetria 58 31 frequent (33%) Frequent (79-30%) HP:0001310
6 broad-based gait 58 31 frequent (33%) Frequent (79-30%) HP:0002136
7 impaired vibratory sensation 58 31 frequent (33%) Frequent (79-30%) HP:0002495
8 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
9 clumsiness 58 31 frequent (33%) Frequent (79-30%) HP:0002312
10 cerebellar atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0001272
11 scanning speech 58 31 frequent (33%) Frequent (79-30%) HP:0002168
12 oculomotor apraxia 58 31 frequent (33%) Frequent (79-30%) HP:0000657
13 progressive gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0007240
14 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
15 saccadic smooth pursuit 58 31 frequent (33%) Frequent (79-30%) HP:0001152
16 horizontal nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000666
17 limb ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002070
18 dysmetric saccades 58 31 frequent (33%) Frequent (79-30%) HP:0000641
19 postural tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0002174
20 emg: neuropathic changes 58 31 occasional (7.5%) Occasional (29-5%) HP:0003445
21 seizures 58 Excluded (0%)
22 nystagmus 31 HP:0000639
23 ataxia 31 HP:0001251
24 gait ataxia 31 HP:0002066
25 hypermetric saccades 31 HP:0007338

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
hyperreflexia
nystagmus
dysarthria
gait ataxia
limb ataxia
more
Head And Neck Eyes:
nystagmus
diplopia
hypermetric saccades
saccadic pursuit movements

Clinical features from OMIM®:

609270 (Updated 05-Apr-2021)

UMLS symptoms related to Spinocerebellar Ataxia, Autosomal Recessive 7:


gait ataxia; cerebellar ataxia; static tremor

MGI Mouse Phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 7:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.21 ATP13A2 CLN3 CLN6 CLN8 CTSD CTSF
2 mortality/aging MP:0010768 10 CLN3 CLN6 CLN8 CTSD CTSF DNAJC5
3 nervous system MP:0003631 9.97 ATP13A2 CLN3 CLN5 CLN6 CLN8 CTSD
4 liver/biliary system MP:0005370 9.8 CLN3 GRN MFSD8 PPT1 SHMT1 TNF
5 pigmentation MP:0001186 9.35 ATP13A2 CLN8 GRN MFSD8 PPT1
6 vision/eye MP:0005391 9.32 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5

Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 7

Search Clinical Trials , 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

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 7

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

40
Eye, Cerebellum, Spinal Cord

Publications for Spinocerebellar Ataxia, Autosomal Recessive 7

Articles related to Spinocerebellar Ataxia, Autosomal Recessive 7:

# Title Authors PMID 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). 61 57 6
23418007 2013
2
TPP1 deficiency: Rare cause of isolated childhood-onset progressive ataxia. 57 6
26224725 2015
3
A new locus for a childhood onset, slowly progressive autosomal recessive spinocerebellar ataxia maps to chromosome 11p15. 6 57
15520412 2004
4
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 6
25741868 2015
5
Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. 6
9295267 1997
6
A Nanostructured Lipid System to Improve the Oral Bioavailability of Ruthenium(II) Complexes for the Treatment of Infections Caused by Mycobacterium tuberculosis. 61
30574128 2018

Variations for Spinocerebellar Ataxia, Autosomal Recessive 7

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

6 (show all 20)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TPP1 NM_000391.4(TPP1):c.851G>T (p.Gly284Val) SNV Pathogenic 2647 rs119455957 GRCh37: 11:6637927-6637927
GRCh38: 11:6616696-6616696
2 TPP1 NM_000391.4(TPP1):c.509-1G>C SNV Pathogenic 2644 rs56144125 GRCh37: 11:6638385-6638385
GRCh38: 11:6617154-6617154
3 TPP1 NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) SNV Pathogenic 2643 rs119455955 GRCh37: 11:6638271-6638271
GRCh38: 11:6617040-6617040
4 TPP1 NM_000391.4(TPP1):c.509-1G>C SNV Pathogenic 2644 rs56144125 GRCh37: 11:6638385-6638385
GRCh38: 11:6617154-6617154
5 TPP1 NM_000391.4(TPP1):c.379C>T (p.Arg127Ter) SNV Pathogenic 207569 rs756564767 GRCh37: 11:6638858-6638858
GRCh38: 11:6617627-6617627
6 TPP1 NM_000391.4(TPP1):c.1029G>C (p.Glu343Asp) SNV Pathogenic 225692 rs886037833 GRCh37: 11:6637592-6637592
GRCh38: 11:6616361-6616361
7 TPP1 NM_000391.4(TPP1):c.1397T>G (p.Val466Gly) SNV Pathogenic 89086 rs398122959 GRCh37: 11:6636430-6636430
GRCh38: 11:6615199-6615199
8 TPP1 NM_000391.4(TPP1):c.89+1G>A SNV Pathogenic 975625 GRCh37: 11:6640426-6640426
GRCh38: 11:6619195-6619195
9 TPP1 NM_000391.4(TPP1):c.1266G>C (p.Gln422His) SNV Likely pathogenic 68738 rs121908200 GRCh37: 11:6636673-6636673
GRCh38: 11:6615442-6615442
10 TPP1 NM_000391.4(TPP1):c.1080C>A (p.Asp360Glu) SNV Uncertain significance 619137 rs1564854760 GRCh37: 11:6637301-6637301
GRCh38: 11:6616070-6616070
11 TPP1 NM_000391.4(TPP1):c.1138G>A (p.Ala380Thr) SNV Uncertain significance 207587 rs190013230 GRCh37: 11:6637243-6637243
GRCh38: 11:6616012-6616012
12 TPP1 NM_000391.4(TPP1):c.14C>A (p.Ala5Asp) SNV Uncertain significance 92884 rs138976576 GRCh37: 11:6640618-6640618
GRCh38: 11:6619387-6619387
13 TPP1 NM_000391.4(TPP1):c.1241A>T (p.Asn414Ile) SNV Uncertain significance 193583 rs146798796 GRCh37: 11:6636698-6636698
GRCh38: 11:6615467-6615467
14 TPP1 NM_000391.4(TPP1):c.1526A>G (p.Gln509Arg) SNV Uncertain significance 207594 rs149529997 GRCh37: 11:6636122-6636122
GRCh38: 11:6614891-6614891
15 TPP1 NM_000391.4(TPP1):c.1280C>T (p.Thr427Met) SNV Uncertain significance 207590 rs201034755 GRCh37: 11:6636547-6636547
GRCh38: 11:6615316-6615316
16 TPP1 NM_000391.4(TPP1):c.776G>A (p.Arg259His) SNV Uncertain significance 207579 rs140176031 GRCh37: 11:6638002-6638002
GRCh38: 11:6616771-6616771
17 TPP1 NM_000391.4(TPP1):c.319G>A (p.Gly107Arg) SNV Uncertain significance 207568 rs201613668 GRCh37: 11:6638918-6638918
GRCh38: 11:6617687-6617687
18 TPP1 NM_000391.4(TPP1):c.101G>A (p.Gly34Asp) SNV Uncertain significance 207560 rs138448968 GRCh37: 11:6640135-6640135
GRCh38: 11:6618904-6618904
19 TPP1 NM_000391.4(TPP1):c.1425G>A (p.Ser475=) SNV Uncertain significance 827992 rs779333902 GRCh37: 11:6636402-6636402
GRCh38: 11:6615171-6615171
20 TPP1 NM_000391.4(TPP1):c.902A>C (p.Gln301Pro) SNV not provided 585076 rs1191799507 GRCh37: 11:6637719-6637719
GRCh38: 11:6616488-6616488

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

72
# Symbol AA change Variation ID SNP ID
1 TPP1 p.Val466Gly VAR_070917 rs398122959

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

Pathways related to Spinocerebellar Ataxia, Autosomal Recessive 7 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.27 TPP1 PPT1 MFSD8 CTSF CTSD CLN5
2 10.45 TNF SHMT1

GO Terms for Spinocerebellar Ataxia, Autosomal Recessive 7

Cellular components related to Spinocerebellar Ataxia, Autosomal Recessive 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.95 TPP1 PPT1 GRN DNAJC5 CLN5 CLN3
2 extracellular exosome GO:0070062 9.92 TPP1 SHMT1 SAA4 PPT1 GRN CTSF
3 membrane raft GO:0045121 9.73 TPP1 TNF PPT1 CTSD CLN6 CLN3
4 synaptic vesicle GO:0008021 9.63 PPT1 DNAJC5 CLN3
5 late endosome GO:0005770 9.61 GRN CLN3 ATP13A2
6 recycling endosome GO:0055037 9.58 TPP1 TNF CLN3
7 lysosomal lumen GO:0043202 9.55 TPP1 PPT1 CTSF CTSD ATP13A2
8 melanosome GO:0042470 9.54 TPP1 DNAJC5 CTSD
9 lysosomal membrane GO:0005765 9.5 MFSD8 GRN DNAJC5 CTSD CLN5 CLN3
10 lysosome GO:0005764 9.28 TPP1 PPT1 MFSD8 GRN CTSF CTSD

Biological processes related to Spinocerebellar Ataxia, Autosomal Recessive 7 according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of neuron apoptotic process GO:0043524 9.67 PPT1 GRN DNAJC5 CLN3
2 neuromuscular process controlling balance GO:0050885 9.61 TPP1 CLN8 CLN3
3 autophagosome maturation GO:0097352 9.56 MFSD8 CLN3
4 regulation of synaptic transmission, glutamatergic GO:0051966 9.55 TNF CLN3
5 protein catabolic process GO:0030163 9.55 TPP1 PPT1 CLN8 CLN6 CLN5
6 negative regulation of proteolysis GO:0045861 9.54 CLN8 CLN3
7 lysosomal transport GO:0007041 9.52 GRN ATP13A2
8 cellular protein catabolic process GO:0044257 9.51 PPT1 CLN8
9 associative learning GO:0008306 9.5 PPT1 CLN8 CLN3
10 lysosomal protein catabolic process GO:1905146 9.49 TPP1 CLN3
11 autophagosome-lysosome fusion GO:0061909 9.48 CLN3 ATP13A2
12 positive regulation of pinocytosis GO:0048549 9.46 PPT1 CLN3
13 cellular macromolecule catabolic process GO:0044265 9.43 PPT1 CLN8 CLN6
14 regulation of lysosomal protein catabolic process GO:1905165 9.4 MFSD8 ATP13A2
15 lysosomal lumen acidification GO:0007042 9.35 PPT1 GRN CLN6 CLN5 CLN3
16 lysosome organization GO:0007040 9.23 TPP1 PPT1 MFSD8 GRN CLN8 CLN6

Molecular functions related to Spinocerebellar Ataxia, Autosomal Recessive 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysophosphatidic acid binding GO:0035727 9.13 TPP1 PPT1 CLN6
2 sulfatide binding GO:0120146 8.92 TPP1 PPT1 CLN6 CLN3

Sources for Spinocerebellar Ataxia, Autosomal Recessive 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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