Spinocerebellar Ataxia 7 malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Ear diseases, Skin diseases, Mental diseases, Metabolic diseases, Cardiovascular diseases categories

Aliases & Classifications for Spinocerebellar Ataxia 7

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46OMIM, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 44Novoseek, 48Orphanet, 22GTR, 61UMLS, 26ICD10 via Orphanet, 62UMLS via Orphanet
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Aliases & Descriptions for Spinocerebellar Ataxia 7:

Name: Spinocerebellar Ataxia 7 46 9 42
Spinocerebellar Ataxia Type 7 19 42 20 44 48 22 61
Olivopontocerebellar Atrophy 3 42 61
Sca7 42 48
Opca with Macular Degeneration and External Ophthalmoplegia 42
Pure Cerebellar Syndrome - Mild Pyramidal Signs 42
Autosomal Dominant Cerebellar Ataxia Type Iii 42
Autosomal Dominant Cerebellar Ataxia Type Ii 42
Cerebellar Syndrome - Pigmentary Maculopathy 48
Autosomal Dominant Cerebellar Ataxia Type 2 42
Autosomal Dominant Cerebellar Ataxia Type 3 42
Ataxia with Pigmentary Retinopathy 48
Opca with Retinal Degeneration 42
Adca Type 2 42
Adca Iii 44
Adcaiii 42
Adcaii 42
Adca3 42
Opca3 42
Adca2 42
Sca 7 19


Characteristics (Orphanet epidemiological data):

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

External Ids:

OMIM46 164500
Orphanet48 94147
ICD10 via Orphanet26 G11.8
UMLS via Orphanet62 C0752125

Summaries for Spinocerebellar Ataxia 7

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NIH Rare Diseases:42 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. last updated: 7/12/2011

MalaCards based summary: Spinocerebellar Ataxia 7, also known as spinocerebellar ataxia type 7, is related to spinocerebellar ataxia and machado-joseph disease, and has symptoms including hyperreflexia, mental deterioration and nystagmus. An important gene associated with Spinocerebellar Ataxia 7 is ATXN7 (ataxin 7). Affiliated tissues include eye, brain and cerebellum.

OMIM:46 Spinocerebellar ataxia-7 (SCA7) is an autosomal dominant neurodegenerative disorder characterized by adult onset of... (164500) more...

GeneReviews summary for sca7

Related Diseases for Spinocerebellar Ataxia 7

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Diseases in the Spinocerebellar Ataxia family:

Spinocerebellar Ataxia 21 Spinocerebellar Ataxia, Autosomal Recessive 4
Spinocerebellar Ataxia 37 Spinocerebellar Ataxia 19
Spinocerebellar Ataxia, Autosomal Recessive 11 Spinocerebellar Ataxia 25
Spinocerebellar Ataxia 15 Spinocerebellar Ataxia, Autosomal Recessive 10
spinocerebellar ataxia 7 Spinocerebellar Ataxia, Autosomal Recessive 15
Spinocerebellar Ataxia, Autosomal Recessive 18 Spinocerebellar Ataxia 30
Spinocerebellar Ataxia 12 Spinocerebellar Ataxia 1
Spinocerebellar Ataxia, Autosomal Recessive 3 Spinocerebellar Ataxia 38
Spinocerebellar Ataxia 34 Spinocerebellar Ataxia, Autosomal Recessive 13
Spinocerebellar Ataxia, Autosomal Recessive 8 Spinocerebellar Ataxia 17
Spinocerebellar Ataxia 18 Spinocerebellar Ataxia 32
Spinocerebellar Ataxia, Autosomal Recessive 2 Spinocerebellar Ataxia, Autosomal Recessive 17
Spinocerebellar Ataxia, Autosomal Recessive 7 Spinocerebellar Ataxia 20
Spinocerebellar Ataxia 5 Spinocerebellar Ataxia, Autosomal Recessive 14
Spinocerebellar Ataxia 2 Spinocerebellar Ataxia 8
Spinocerebellar Ataxia 27 Spinocerebellar Ataxia 40
Spinocerebellar Ataxia 11 Spinocerebellar Ataxia, Autosomal Recessive 5
Spinocerebellar Ataxia, Autosomal Recessive 16 Spinocerebellar Ataxia 31
Spinocerebellar Ataxia, Autosomal Recessive 12 Spinocerebellar Ataxia 4
Spinocerebellar Ataxia 28 Spinocerebellar Ataxia 26
Spinocerebellar Ataxia 6 Spinocerebellar Ataxia 13
Spinocerebellar Ataxia 14 Spinocerebellar Ataxia 36
Spinocerebellar Ataxia 23 Spinocerebellar Ataxia 35
Spinocerebellar Ataxia, Autosomal Recessive 6 Spinocerebellar Ataxia 10
Spinocerebellar Ataxia 19/22 Spinocerebellar Ataxia 9

Diseases related to Spinocerebellar Ataxia 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
idRelated DiseaseScoreTop Affiliating Genes
1spinocerebellar ataxia30.9ATXN7, RPS27A
2machado-joseph disease30.1ATXN7, RPS27A
5retinal degeneration10.5
6spinocerebellar ataxia, autosomal recessive 710.4
7cerebellar ataxia10.4
9cone-rod dystrophy10.3
11kearns-sayre syndrome10.3
12cerebellar disease10.3
14peripheral neuropathy10.3
15spastic paraparesis10.3
17neuronal ceroid lipofuscinosis10.2
18cerebellar degeneration10.2
19spinocerebellar ataxia 210.2
20spinocerebellar ataxia 1010.2
21spinocerebellar ataxia 110.0
24dentatorubro-pallidoluysian atrophy10.0ATXN7, RPS27A
25huntington disease10.0ATXN7, RPS27A
26blindness9.7TPP1, ATXN7

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

Diseases related to spinocerebellar ataxia 7

Symptoms for Spinocerebellar Ataxia 7

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Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:


HPO human phenotypes related to Spinocerebellar Ataxia 7:

(show all 22)
id Description Frequency HPO Source Accession
1 hyperreflexia 7% HP:0001347
2 mental deterioration rare (5%) HP:0001268
3 nystagmus 2% HP:0000639
4 dysarthria 2% HP:0001260
5 tremor 2% HP:0001337
6 progressive cerebellar ataxia 2% HP:0002073
7 optic atrophy very rare (1%) HP:0000648
8 autosomal dominant inheritance HP:0000006
9 slow saccadic eye movements HP:0000514
10 progressive visual loss HP:0000529
11 macular degeneration HP:0000608
12 supranuclear ophthalmoplegia HP:0000623
13 pigmentary retinal degeneration HP:0001146
14 spasticity HP:0001257
15 dysmetria HP:0001310
16 dysphagia HP:0002015
17 abnormality of extrapyramidal motor function HP:0002071
18 chorea HP:0002072
19 orofacial dyskinesia HP:0002310
20 olivopontocerebellar atrophy HP:0002542
21 babinski sign HP:0003487
22 genetic anticipation with paternal anticipation bias HP:0003744

Drugs & Therapeutics for Spinocerebellar Ataxia 7

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Drug clinical trials:

Search ClinicalTrials for Spinocerebellar Ataxia 7

Search NIH Clinical Center for Spinocerebellar Ataxia 7

Genetic Tests for Spinocerebellar Ataxia 7

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Genetic tests related to Spinocerebellar Ataxia 7:

id Genetic test Affiliating Genes
1 Spinocerebellar Ataxia Type 720 ATXN7
2 Spinocerebellar Ataxia 722

Anatomical Context for Spinocerebellar Ataxia 7

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MalaCards organs/tissues related to Spinocerebellar Ataxia 7:

Eye, Brain, Cerebellum, Retina, Spinal cord

Animal Models for Spinocerebellar Ataxia 7 or affiliated genes

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Publications for Spinocerebellar Ataxia 7

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Articles related to Spinocerebellar Ataxia 7:

Spinal cord stimulation for gait impairment in spinocerebellar ataxia 7. (24390202)
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)
Polyglutamine toxicity induces rod photoreceptor division, morphological transformation or death in spinocerebellar ataxia 7 mouse retina. (20600911)
A conditional pan-neuronal Drosophila model of spinocerebellar ataxia 7 with a reversible adult phenotype suitable for identifying modifier genes. (17344386)
Pontine atrophy precedes cerebellar degeneration in spinocerebellar ataxia 7: MRI-based volumetric analysis. (15377695)
Spinocerebellar ataxia 7 (SCA7). (14526176)
Multiple origins of the spinocerebellar ataxia 7 (SCA7) mutation revealed by linkage disequilibrium studies with closely flanking markers, including an intragenic polymorphism (G3145TG/A3145TG). (10602364)
De novo expansion of intermediate alleles in spinocerebellar ataxia 7. (9736784)

Variations for Spinocerebellar Ataxia 7

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Clinvar genetic disease variations for Spinocerebellar Ataxia 7:

id Gene Variation Type Significance SNP ID Assembly Location
1ATXN7NM_000333.3(ATXN7): c.88_90CAG(7_17) (p.Gln37_Gln39del)NT expansionPathogenicGRCh37Chr 3, 63898362: 63898391

Expression for genes affiliated with Spinocerebellar Ataxia 7

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

Pathways for genes affiliated with Spinocerebellar Ataxia 7

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Compounds for genes affiliated with Spinocerebellar Ataxia 7

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GO Terms for genes affiliated with Spinocerebellar Ataxia 7

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

idNameGO IDScoreTop Affiliating Genes
1cell deathGO:00082199.3TPP1, ATXN7

Sources for Spinocerebellar Ataxia 7

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26ICD10 via Orphanet
34MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet