ORPHA:94147
Spinocerebellar ataxia type 7
Synonyms: Ataxia with pigmentary retinopathy · Cerebellar syndrome-pigmentary maculopathy syndrome · SCA7
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood, Elderly, Infancy
- Status
- active
An autosomal dominant cerebellar ataxia type II that is characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spinocerebellar ataxia type 7 | Ataxia with pigmentary retinopathy · Cerebellar syndrome-pigmentary maculopathy syndrome · SCA7 |
| fr | Ataxie spinocérébelleuse type 7 | Ataxie avec rétinopathie pigmentaire · SCA7 · Syndrome cérébelleux-maculopathie pigmentaire |
| de | Ataxie, spinozerebelläre, Typ 7 | Ataxie mit Pigmentretinopathie · Ataxie, autosomal-dominante spinozerebelläre, Typ 7 · SCA7 |
| es | Ataxia espinocerebelosa tipo 7 | Ataxia con retinopatía pigmentaria · SCA7 · Síndrome cerebeloso-maculopatía pigmentaria |
| it | Atassia spinocerebellare tipo 7 | Atassia con retinopatia pigmentosa · SCA7 · Sindrome cerebellare - maculopatia pigmentosa |
| nl | Spinocerebellaire ataxie type 7 | Ataxie met pigmentretinopathie · Cerebellair syndroom - pigmentmaculopathie-syndroom · SCA7 |
| pt | Ataxia espinocerebelosa tipo 7 | SCA7 |
| pl | Ataksja rdzeniowo-móżdżkowa typu 7 | Ataksja z retinopatią barwnikową · SCA7 · Zespół móżdżkowy - makulopatia barwnikowa |
| cs | Spinocerebelární ataxie, typ 7 | Ataxie s pigmentární retinopatií · Syndrom zahrnující cerebelární syndrom a pigmentární makulopatii · SCA7 |
| uk | Спіноцеребеллярна атаксія, тип 7 | Атаксія з пігментною ретинопатією · Мозочковий синдром - синдром пігментної макулопатії · SCA7 |
| zh | 脊髓小脑共济失调7型 | 小脑综合征-色素性黄斑病变综合征 |
| tr | Spinoserebellar ataksi tip 7 | SCA7 · Pigmenter retinopati ile seyreden ataksi · Serebellar sendrom-pigmenter makülopati sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 164500 | E | validated | |
| ICD-10 | G11.8 | NTBT | attributed | validated |
| ICD-11 | 8A03.16 | NTBT | index | validated |
| MONDO | 0016163 | E | validated | |
| MONDO | 16163 | E | validated | |
| UMLS | C0752125 | E | validated | |
| GARD | 4955 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:208508Autosomal dominant cerebellar ataxia type II
rare genetic diseases; rare neurological diseases - ORPHA:98687Supranuclear eye movement disorder
rare genetic diseases; rare ophthalmic disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ATXN7 | Disease-causing germline mutation(s) in | Assessed | HGNC:10560 | ENSG00000163635 | 607640 | 3p14.1 | ataxin 7 | 20301317[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | — | Worldwide | Class only | Validated | 24374739[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
32 annotations · validated 2018-02-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0001251 | Ataxia | |
| HP:0001260 | Dysarthria | |
| HP:0001310 | Dysmetria | |
| HP:0001347 | Hyperreflexia | |
| Very frequent (99-80%) | ||
| HP:0000548 | Cone/cone-rod dystrophy | |
| HP:0002015 | Dysphagia | |
| Frequent (79-30%) | ||
| HP:0001098 | Abnormal fundus morphology | |
| HP:0003487 | Babinski sign | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0002059 | Cerebral atrophy | |
| HP:0001635 | Congestive heart failure | |
| HP:0002075 | Dysdiadochokinesis | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0001263 | Global developmental delay | |
| HP:0001268 | Mental deterioration | |
| HP:0001270 | Motor delay | |
| HP:0001324 | Muscle weakness | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0000639 | Nystagmus | |
| HP:0000597 | Ophthalmoparesis | |
| HP:0000602 | Ophthalmoplegia | |
| HP:0002310 | Orofacial dyskinesia | |
| HP:0007663 | Reduced visual acuity | |
| HP:0012452 | Restless legs | |
| HP:0003474 | Somatic sensory dysfunction | |
| HP:0000572 | Visual loss | |
| Occasional (29-5%) | ||
| HP:0000618 | Blindness | |
| HP:0012047 | Hemeralopia | |
| HP:0000608 | Macular degeneration | |
| HP:0000613 | Photophobia | |
| HP:0000709 | Psychosis | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 22915085[PMID]_20301433[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/94147
- This record as JSON: /data/d/94147.json