ORPHA:1955
Spinocerebellar ataxia type 34
Synonyms: Erythrokeratodermia with ataxia · SCA34 · Spinocerebellar ataxia and erythrokeratodermia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Neonatal
- Status
- active
An autosomal dominant cerebellar ataxia type I that is characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spinocerebellar ataxia type 34 | Erythrokeratodermia with ataxia · SCA34 · Spinocerebellar ataxia and erythrokeratodermia |
| fr | Ataxie spinocérébelleuse type 34 | Ataxie spinocérébelleuse avec érythrokératodermie · Erythrokératodermie avec ataxie |
| de | Ataxie, spinozerebelläre, Typ 34 | Erythrokeratodermie mit Ataxie · SCA34 · Spinozerebelläre Ataxie und Erythrokeratoderm |
| es | Ataxia espinocerebelosa tipo 34 | Ataxia espinocerebelosa y eritroqueratodermia · Eritroqueratodermia con ataxia · SCA34 |
| it | Atassia spinocerebellare tipo 34 | Atassia spinocerebellare ed eritrocheratodermia · Eritrocheratodermia con atassia · SCA34 |
| nl | Spinocerebellaire ataxie type 34 | Erytrokeratodermie met ataxie · SCA34 · Spinocerebellaire ataxie en erytrokeratodermie |
| pt | Ataxia espinocerebelosa tipo 34 | Eritroqueratodermia-ataxia |
| pl | Ataksja rdzeniowo-móżdżkowa typu 34 | Ataksja rdzeniowo-móżdżkowa z erytrokeratodermią · Erytrokeratodermia z ataksją · SCA34 |
| cs | Spinocerebelární ataxie, typ 34 | Erytrokeratodermie s ataxií · SCA34 · Spinocerebelární ataxie a erytrokeratodermie |
| uk | Спіноцеребеллярна атаксія, тип 34 | Еритрокератодермія з атаксією · SCA34 · Спіноцеребеллярна атаксія та еритрокератодермія |
| zh | 脊髓小脑共济失调34型 | 脊髓小脑共济失调和红斑角化病 |
| tr | Spinoserebellar ataksi tip 34 | SCA34 · Ataksi ile seyreden eritrokeratodermi · Spinoserebellar ataksi ve eritrokeratodermi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 133190 | E | validated | |
| ICD-10 | G11.1 | NTBT | attributed | validated |
| ICD-11 | 8A03.16 | NTBT | attributed | validated |
| MONDO | 0007574 | E | validated | |
| MeSH | C535738 | E | validated | |
| UMLS | C1851481 | E | validated | |
| GARD | 59 | 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 (3):
- ORPHA:94145Autosomal dominant cerebellar ataxia type I
rare genetic diseases; rare neurological diseases - ORPHA:79355Erythrokeratoderma
rare skin diseases - ORPHA:183438Genetic erythrokeratoderma
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ELOVL4 | Disease-causing germline mutation(s) in | Assessed | HGNC:14415 | ENSG00000118402 | 605512 | 6q14.1 | ELOVL fatty acid elongase 4 | 24566826[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_31105016[PMID]_31750392[PMID]_[EXPERT] |
| Cases/families | 45 cases | Worldwide | Case(s) | Validated | 31105016[PMID]_31750392[PMID]_[EXPERT] |
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
16 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0000958 | Dry skin | |
| HP:0001260 | Dysarthria | |
| HP:0002075 | Dysdiadochokinesis | |
| HP:0001288 | Gait disturbance | |
| HP:0000966 | Hypohidrosis | |
| HP:0001265 | Hyporeflexia | |
| HP:0012733 | Macule | |
| HP:0000639 | Nystagmus | |
| HP:0200034 | Papule | |
| HP:0002073 | Progressive cerebellar ataxia | |
| HP:0001025 | Urticaria | |
| Frequent (79-30%) | ||
| HP:0100022 | Abnormality of movement | |
| Occasional (29-5%) | ||
| HP:0003011 | Abnormality of the musculature | |
| HP:0000324 | Facial asymmetry | |
| HP:0000486 | Strabismus | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1955
- This record as JSON: /data/d/1955.json