SCA7
MCID: SPN291
MIFTS: 50

Spinocerebellar Ataxia 7 (SCA7)

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 7

MalaCards integrated aliases for Spinocerebellar Ataxia 7:

Name: Spinocerebellar Ataxia 7 57 20 72 29 13 6
Spinocerebellar Ataxia Type 7 12 25 20 58 54 15 70
Sca7 57 25 20 58 72
Opca Iii 57 20 72
Opca3 57 20 72
Opca with Macular Degeneration and External Ophthalmoplegia 57 20
Autosomal Dominant Cerebellar Ataxia Type 2 20 58
Olivopontocerebellar Atrophy Iii 57 72
Opca with Retinal Degeneration 57 20
Olivopontocerebellar Atrophy 3 20 70
Adca, Type Ii 57 20
Olivopontocerebellar Atrophy with Retinal Degeneration 72
Cerebellar Syndrome-Pigmentary Maculopathy Syndrome 58
Autosomal Dominant Cerebellar Ataxia, Type Ii 57
Autosomal Dominant Cerebellar Ataxia Type Ii 58
Olivopontocerebellar Atrophy Iii; Opca3 57
Ataxia with Pigmentary Retinopathy 58
Ataxia, Spinocerebellar, Type 7 39
Adcaii 58
Adca2 58

Characteristics:

Orphanet epidemiological data:

58
spinocerebellar ataxia type 7
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood,Elderly,Infancy; Age of death: any age;

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
genetic anticipation
paternal anticipation bias
mean age at onset 32 years

Inheritance:
autosomal dominant



GeneReviews:

25
Penetrance See genotype-phenotype correlations for cag repeat sizes associated with age-related reduced penetrance.

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


Summaries for Spinocerebellar Ataxia 7

GARD : 20 Spinocerebellar ataxia 7 (SCA7) is an inherited disease of the central nervous system that leads to impairment of specific nerve fibers carrying messages to and from the brain, resulting in degeneration of the cerebellum (the coordination center of the brain). SCA7 differs from most other forms of SCA in that visual problems, rather than poor coordination, are generally the earliest signs of the disease. Affected individuals have progressive changes in vision (which can result in blindness); symptoms of ataxia ; slow eye movements; and mild changes in sensation or reflexes. Later symptoms include loss of motor control, unclear speech ( dysarthria ), and difficulty swallowing ( dysphagia ). Onset in early childhood or infancy has an especially rapid and aggressive course often associated with failure to thrive and regression of motor milestones. SCA7 is caused by mutations in the ATXN7 gene and is inherited in an autosomal dominant manner. Treatment is generally symptomatic and supportive.

MalaCards based summary : Spinocerebellar Ataxia 7, also known as spinocerebellar ataxia type 7, is related to spinocerebellar ataxia 1 and spinocerebellar ataxia 2, and has symptoms including abnormality of extrapyramidal motor function, muscle spasticity and abnormal pyramidal signs. An important gene associated with Spinocerebellar Ataxia 7 is ATXN7 (Ataxin 7), and among its related pathways/superpathways is Chromatin organization. The drugs Riluzole and Protective Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, cerebellum and spinal cord, and related phenotypes are hyperreflexia and dysarthria

Disease Ontology : 12 An autosomal dominant cerebellar ataxia that is characterized by ataxia, progressive vision loss, and failure to thrive, has material basis in mutation in the ATXN7 gene.

OMIM® : 57 Spinocerebellar ataxia-7 (SCA7) is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive cerebellar ataxia associated with pigmental macular dystrophy. In her classification of ataxia, Harding (1982) referred to progressive cerebellar ataxia with pigmentary macular degeneration as type II ADCA (autosomal dominant cerebellar ataxia). The age at onset, degree of severity, and rate of progression vary among and within families. Associated neurologic signs, such as ophthalmoplegia, pyramidal or extrapyramidal signs, deep sensory loss, or dementia, are also variable. Genetic anticipation is observed and is greater in paternal than in maternal transmissions (Benomar et al., 1994; summary by David et al., 1996). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400). (164500) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Spinocerebellar ataxia 7: Spinocerebellar ataxia is 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. SCA7 belongs to the autosomal dominant cerebellar ataxias type II (ADCA II) which are characterized by cerebellar ataxia with retinal degeneration and pigmentary macular dystrophy.

GeneReviews: NBK1256

Related Diseases for Spinocerebellar Ataxia 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 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 89)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 1 30.8 MIR9-1 CHERP ATXN8OS ATXN7 ATXN2 ATXN1
2 spinocerebellar ataxia 2 30.1 ATXN8OS ATXN7 ATXN2
3 spinocerebellar ataxia 17 29.9 ATXN8OS ATXN7 ATXN2 ATXN1
4 dentatorubral-pallidoluysian atrophy 29.6 MIR9-1 ATXN8OS ATXN7 ATXN2 ATXN1
5 cerebellar disease 29.6 MIR9-1 HSPA4 H2AC18 ATXN8OS ATXN7 ATXN2
6 huntington disease 29.6 MIR9-1 HSPA4 CHERP ATXN7 ATXN1
7 hereditary ataxia 29.5 H2AC18 ATXN8OS ATXN7 ATXN2 ATXN1
8 autosomal dominant cerebellar ataxia 29.5 SCAANT1 MIR9-1 LOC108660406 HSPA4 H2AC18 CHERP
9 machado-joseph disease 29.4 H2AC18 CHERP ATXN8OS ATXN7 ATXN2 ATXN1
10 spinocerebellar ataxia, autosomal recessive 7 11.4
11 ataxia and polyneuropathy, adult-onset 10.6
12 olivopontocerebellar atrophy 10.5
13 retinal degeneration 10.3
14 yemenite deaf-blind hypopigmentation syndrome 10.2
15 solar retinopathy 10.2
16 color blindness 10.2
17 retinal disease 10.2
18 pathologic nystagmus 10.2
19 mucocutaneous leishmaniasis 10.1 HSPA4 H2AC18
20 dysphagia 10.1
21 spinocerebellar degeneration 10.1 ATXN2 ATXN1
22 spinocerebellar ataxia 10 10.1 ATXN8OS ATXN7 ATXN2
23 night blindness, congenital stationary, autosomal dominant 2 10.1
24 occult macular dystrophy 10.1
25 ifap syndrome 2 10.1
26 stargardt disease 10.1
27 restless legs syndrome 10.1
28 cone dystrophy 10.1
29 parkinsonism 10.1
30 corneal edema 10.1
31 telangiectasis 10.1
32 focal segmental glomerulosclerosis 10.1
33 cerebral degeneration 10.1
34 motor peripheral neuropathy 10.1
35 movement disease 10.1
36 muscular atrophy 10.1
37 scotoma 10.1
38 myotonic dystrophy 10.1
39 mitochondrial disorders 10.1
40 cerebral atrophy 10.1
41 posttransplant acute limbic encephalitis 10.1
42 cerebellar ataxia type 47 10.0 ATXN7L3B ATXN1
43 retinitis pigmentosa 1 10.0
44 retinitis pigmentosa 10.0
45 neuroretinitis 10.0
46 retinitis 10.0
47 toxic encephalopathy 10.0 MIR9-1 HSPA4 H2AC18
48 ceroid lipofuscinosis, neuronal, 3 10.0
49 ceroid lipofuscinosis, neuronal, 2 10.0
50 ceroid lipofuscinosis, neuronal, 6 10.0

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



Diseases related to Spinocerebellar Ataxia 7

Symptoms & Phenotypes for Spinocerebellar Ataxia 7

Human phenotypes related to Spinocerebellar Ataxia 7:

58 31 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 58 31 very rare (1%) Obligate (100%) HP:0001347
2 dysarthria 58 31 very rare (1%) Obligate (100%) HP:0001260
3 dysmetria 58 31 obligate (100%) Obligate (100%) HP:0001310
4 dysphagia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002015
5 cone/cone-rod dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000548
6 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
7 nystagmus 58 31 very rare (1%) Frequent (79-30%) HP:0000639
8 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
9 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
10 neonatal hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001319
11 congestive heart failure 58 31 frequent (33%) Frequent (79-30%) HP:0001635
12 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
13 ophthalmoplegia 58 31 frequent (33%) Frequent (79-30%) HP:0000602
14 mental deterioration 58 31 occasional (7.5%) Frequent (79-30%) HP:0001268
15 dysdiadochokinesis 58 31 frequent (33%) Frequent (79-30%) HP:0002075
16 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
17 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
18 cerebellar atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0001272
19 cerebral atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002059
20 sensory impairment 58 31 frequent (33%) Frequent (79-30%) HP:0003474
21 visual loss 58 31 frequent (33%) Frequent (79-30%) HP:0000572
22 orofacial dyskinesia 58 31 frequent (33%) Frequent (79-30%) HP:0002310
23 restless legs 58 31 frequent (33%) Frequent (79-30%) HP:0012452
24 blindness 58 31 occasional (7.5%) Occasional (29-5%) HP:0000618
25 photophobia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000613
26 psychosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000709
27 macular degeneration 58 31 occasional (7.5%) Occasional (29-5%) HP:0000608
28 hemeralopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0012047
29 tremor 31 very rare (1%) HP:0001337
30 optic atrophy 31 very rare (1%) HP:0000648
31 progressive cerebellar ataxia 31 very rare (1%) HP:0002073
32 spasticity 31 HP:0001257
33 ataxia 58 Obligate (100%)
34 chorea 31 HP:0002072
35 progressive visual loss 31 HP:0000529
36 reduced visual acuity 58 Frequent (79-30%)
37 abnormality of extrapyramidal motor function 31 HP:0002071
38 ophthalmoparesis 58 Frequent (79-30%)
39 pigmentary retinopathy 31 HP:0000580
40 olivopontocerebellar atrophy 31 HP:0002542
41 abnormal fundus morphology 58 Frequent (79-30%)
42 supranuclear ophthalmoplegia 31 HP:0000623
43 slow saccadic eye movements 31 HP:0000514

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
spasticity
hyperreflexia
dysarthria
dysphagia
chorea
more
Head And Neck Eyes:
optic atrophy
macular degeneration
supranuclear ophthalmoplegia
pigmentary retinal degeneration
slow saccades
more

Clinical features from OMIM®:

164500 (Updated 05-Apr-2021)

UMLS symptoms related to Spinocerebellar Ataxia 7:


abnormality of extrapyramidal motor function; muscle spasticity; abnormal pyramidal signs

Drugs & Therapeutics for Spinocerebellar Ataxia 7

Drugs for Spinocerebellar Ataxia 7 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Riluzole Approved, Investigational Phase 2, Phase 3 1744-22-5 5070
2 Protective Agents Phase 2, Phase 3
3 Excitatory Amino Acid Antagonists Phase 2, Phase 3
4 Neuroprotective Agents Phase 2, Phase 3
5 Neurotransmitter Agents Phase 2, Phase 3
6 Anticonvulsants Phase 2, Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Riluzole in Patients With Spinocerebellar Ataxia Type 7: a Randomized , Double-blind, Placebo-controlled Pilot Trial With a Lead in Phase Unknown status NCT03660917 Phase 2, Phase 3 Riluzole;Placebo
2 Prospective Study of Individuals at Risk for Spinocerebellar Ataxia Type 1, Type 2, Type 3, Type 6 and Type 7 (SCA1, SCA2, SCA3, SCA6, SCA7) Unknown status NCT01037777
3 Natural History of Spinocerebellar Ataxia Type 7 (SCA7) Recruiting NCT02741440

Search NIH Clinical Center for Spinocerebellar Ataxia 7

Genetic Tests for Spinocerebellar Ataxia 7

Genetic tests related to Spinocerebellar Ataxia 7:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 7 29 ATXN7

Anatomical Context for Spinocerebellar Ataxia 7

MalaCards organs/tissues related to Spinocerebellar Ataxia 7:

40
Eye, Cerebellum, Spinal Cord, Heart, Brain, Retina, Bone Marrow

Publications for Spinocerebellar Ataxia 7

Articles related to Spinocerebellar Ataxia 7:

(show top 50) (show all 269)
# Title Authors PMID Year
1
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. 61 6 57 54 25
9288099 1997
2
Ataxin-7 aggregation and ubiquitination in infantile SCA7 with 180 CAG repeats. 54 25 61 57
15349877 2004
3
Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy. 54 61 25 57
14571264 2004
4
Molecular and clinical study of spinocerebellar ataxia type 7 in Chinese kindreds. 25 57 61 54
11030806 2000
5
De novo expansion of intermediate alleles in spinocerebellar ataxia 7. 61 57 25 54
9736784 1998
6
Post-zygotic de novo trinucleotide repeat expansion at spinocerebellar ataxia type 7 locus: evidence from an Indian family. 61 25 57
15750685 2005
7
Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA. 25 61 57
9425905 1998
8
SUMOylation attenuates the aggregation propensity and cellular toxicity of the polyglutamine expanded ataxin-7. 54 57 61
19843541 2010
9
Frequency of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Australian patients with spinocerebellar ataxia. 25 57
11186889 2000
10
Evidence for a common Spinocerebellar ataxia type 7 (SCA7) founder mutation in Scandinavia. 54 61 57
11175279 2000
11
Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation. 57 25
10330346 1999
12
Spinocerebellar ataxia type 7 (SCA7): a neurodegenerative disorder with neuronal intranuclear inclusions. 57 61 54
9536097 1998
13
Polyglutamine expansion causes neurodegeneration by altering the neuronal differentiation program. 57 61
16434483 2006
14
Interference of Crx-dependent transcription by ataxin-7 involves interaction between the glutamine regions and requires the ataxin-7 carboxy-terminal region for nuclear localization. 61 57
14613968 2004
15
SCA7 knockin mice model human SCA7 and reveal gradual accumulation of mutant ataxin-7 in neurons and abnormalities in short-term plasticity. 61 57
12575948 2003
16
Autosomal recessive cerebellar ataxia with bull's-eye macular dystrophy. 61 57
11860984 2002
17
Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7. 57 61
11580893 2001
18
Expanded polyglutamines induce neurodegeneration and trans-neuronal alterations in cerebellum and retina of SCA7 transgenic mice. 61 57
11030754 2000
19
Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission. 61 25 54
9467013 1998
20
The gene for autosomal dominant cerebellar ataxia type II is located in a 5-cM region in 3p12-p13: genetic and physical mapping of the SCA7 locus. 57 61
8940279 1996
21
An expanded CAG repeat sequence in spinocerebellar ataxia type 7. 57 61
8908515 1996
22
Antisense oligonucleotides targeting mutant Ataxin-7 restore visual function in a mouse model of spinocerebellar ataxia type 7. 61 25
30381411 2018
23
Somatic instability of expanded CAG repeats of ATXN7 in Japanese patients with spinocerebellar ataxia type 7. 25 61
25643591 2015
24
Analysis of CAG repeats in five SCA loci in Mexican population: epidemiological evidence of a SCA7 founder effect. 57
23368522 2014
25
Ataxin-7 associates with microtubules and stabilizes the cytoskeletal network. 61 25
22100762 2012
26
Neuro-ophthalmologic features of spinocerebellar ataxia type 7. 61 25
19726938 2009
27
Two patients with spinocerebellar ataxia type 7 presenting with profound binocular visual loss yet minimal ophthalmoscopic findings. 61 25
19726939 2009
28
Macular dysfunction and morphology in spinocerebellar ataxia type 7 (SCA 7). 25 61
19172503 2009
29
Spinocerebellar ataxia type 7 (SCA7): widespread brain damage in an adult-onset patient with progressive visual impairments in comparison with an adult-onset patient without visual impairments. 25 61
17971076 2008
30
Molecular pathogenesis and cellular pathology of spinocerebellar ataxia type 7 neurodegeneration. 25 61
18418675 2008
31
The insulin-like growth factor pathway is altered in spinocerebellar ataxia type 1 and type 7. 57
18216249 2008
32
Origin of the SCA7 gene mutation in South Africa: implications for molecular diagnostics. 57
17026624 2006
33
Anatomical and functional characteristics in atrophic maculopathy associated with spinocerebellar ataxia type 7. 25 61
15860307 2005
34
Age at onset variance analysis in spinocerebellar ataxias: a study in a Dutch-French cohort. 57
15747371 2005
35
Neuronal dysfunction in a polyglutamine disease model occurs in the absence of ubiquitin-proteasome system impairment and inversely correlates with the degree of nuclear inclusion formation. 57
15661755 2005
36
Peripheral nerve involvement in spinocerebellar ataxias. 57
14967775 2004
37
The hereditary adult-onset ataxias in South Africa. 57
14607302 2003
38
Spinocerebellar ataxia type 7 (SCA7) shows a cone-rod dystrophy phenotype. 25 61
12126946 2002
39
Striking anticipation in spinocerebellar ataxia type 7: the infantile phenotype. 61 25
11697534 2001
40
Distribution of ataxin-7 in normal human brain and retina. 25 61
11099453 2000
41
Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases. The Ataxia Study Group. 57
10453742 1999
42
Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7). 61 25
9425222 1998
43
Expanded CAG repeats in Swedish spinocerebellar ataxia type 7 (SCA7) patients: effect of CAG repeat length on the clinical manifestation. 61 25
9425223 1998
44
Refinement of the locus for autosomal dominant cerebellar ataxia type II to chromosome 3p21.1-14.1. 57
9048926 1997
45
Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias. 57
7477379 1995
46
Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1. 57
7581386 1995
47
The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1. 57
7647798 1995
48
Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p. 57
7647799 1995
49
Autosomal dominant cerebellar ataxia with retinal degeneration: clinical, neuropathologic, and genetic analysis of a large kindred. 57
8058146 1994
50
Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy. A clinical and genetic study of eight families. 57
8032856 1994

Variations for Spinocerebellar Ataxia 7

ClinVar genetic disease variations for Spinocerebellar Ataxia 7:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATXN7 NG_008227.1:g.53130CAG[(38_130)] Microsatellite Pathogenic 562100 GRCh37:
GRCh38:
2 ATXN7 and overlap with 1 gene(s) NM_001377405.1(ATXN7):c.89_91AGC[233] (p.Pro40_Pro41insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln) Microsatellite Pathogenic 626311 rs193922929 GRCh37: 3:63898362-63898362
GRCh38: 3:63912684-63912685
3 ATXN7 NM_000333.3(ATXN7):c.1594G>A (p.Gly532Ser) SNV Uncertain significance 638341 rs991657534 GRCh37: 3:63976447-63976447
GRCh38: 3:63990771-63990771
4 LOC108660406 , ATXN7 NM_000333.3(ATXN7):c.112_113insCGCCGC (p.Gln38_Gln39insProPro) Insertion Uncertain significance 638436 rs1216716369 GRCh37: 3:63898384-63898385
GRCh38: 3:63912708-63912709
5 ATXN7 NM_001377405.1(ATXN7):c.2654_2656del (p.Leu885del) Deletion Benign 931863 GRCh37: 3:63982151-63982153
GRCh38: 3:63996475-63996477
6 LOC108660406 , ATXN7 NM_000333.4:c.89ACG[(7_17)] Microsatellite Benign 2953 rs193922929 GRCh37: 3:63898362-63898364
GRCh38: 3:63912686-63912688

Expression for Spinocerebellar Ataxia 7

Search GEO for disease gene expression data for Spinocerebellar Ataxia 7.

Pathways for Spinocerebellar Ataxia 7

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.95 KAT2B KAT2A H2AC18 ENY2 ATXN7L3 ATXN7

GO Terms for Spinocerebellar Ataxia 7

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

# Name GO ID Score Top Affiliating Genes
1 Ada2/Gcn5/Ada3 transcription activator complex GO:0005671 9.16 KAT2B KAT2A
2 SAGA complex GO:0000124 8.96 ENY2 ATXN7L3
3 DUBm complex GO:0071819 8.62 ENY2 ATXN7L3

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

# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.65 TPP1 KAT2A CRX CHERP ATXN1
2 positive regulation of gluconeogenesis GO:0045722 9.32 KAT2B KAT2A
3 negative regulation of centriole replication GO:0046600 9.16 KAT2B KAT2A
4 internal peptidyl-lysine acetylation GO:0018393 8.96 KAT2B KAT2A
5 histone deubiquitination GO:0016578 8.92 KAT2A ENY2 ATXN7L3 ATXN7

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

# Name GO ID Score Top Affiliating Genes
1 transcription coactivator activity GO:0003713 9.26 KAT2B KAT2A ENY2 ATXN7L3
2 acetyltransferase activity GO:0016407 9.16 KAT2B KAT2A
3 peptide-lysine-N-acetyltransferase activity GO:0061733 8.62 KAT2B KAT2A

Sources for Spinocerebellar Ataxia 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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