ORPHA:412057
Autosomal recessive cerebellar ataxia due to STUB1 deficiency
Synonyms: SCAR16 · Spinocerebellar ataxia autosomal recessive type 16
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare hereditary ataxia characterized by progressive truncal and limb ataxia resulting in gait instability. Dysarthria, dysphagia, nystagmus, spasticity of the lower limbs, mild peripheral sensory neuropathy, cognitive impairment and accelerated ageing have also been associated.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive cerebellar ataxia due to STUB1 deficiency | SCAR16 · Spinocerebellar ataxia autosomal recessive type 16 |
| fr | Ataxie cérébelleuse congénitale autosomique récessive par déficit en STUB1 | Ataxie spinocérébelleuse autosomique récessive type 16 · SCAR16 |
| de | Zerebelläre Ataxie, autosomal-rezessive, durch STUB1-Mangel | SCAR16 · Spinozerebelläre Ataxie, autosomal-rezessive, Typ 16 |
| es | Ataxia cerebelosa autosómica recesiva por deficiencia de STUB1 | Ataxia espinocerebelosa autosómica recesiva tipo 16 · SCAR16 |
| it | Atassia cerebellare autosomica recessiva da deficit di STUB1 | Atassia spinocerebellare autosomica recessiva, tipo 16 · SCAR16 |
| nl | Autosomaal recessieve cerebellaire ataxie door STUB1-deficiëntie | SCAR16 · Spinocerebellaire ataxie, autosomaal recessief type 16 |
| pt | Ataxia cerebelosa autossómica recessiva por défice de STUB1 | |
| pl | Autosomalna recesywna ataksja móżdżkowa z powodu niedoboru CHIP | Autosomalna recesywna ataksja rdzeniowo-móżdżkowa typu 16 · SCAR16 |
| cs | Autozomálně recesivní cerebellární ataxie způsobená deficitem STUB1 | SCAR16 · Autozomálně recesivní spinocerebelární ataxie, typ 16 |
| uk | Аутосомно-рецесивна мозочкова атаксія, зумовлена дефіцитом STUB1 | SCAR16 · Спіноцеребеллярна атаксія, аутосомно-рецесивний тип 16 |
| zh | STUB1缺陷所致常染色体隐性遗传小脑性共济失调 | 脊髓小脑共济失调常染色体隐性16型 |
| tr | STUB1 eksikliğine bağlı otozomal resesif serebellar ataksi | SCAR16 · Spinoserebellar ataksi otozomal çekinik tip 16 |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615768 | E | validated | |
| ICD-10 | G11.1 | NTBT | attributed | validated |
| MONDO | 0014339 | E | validated | |
| UMLS | C5190574 | 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:1172Autosomal recessive cerebellar ataxia
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| STUB1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11427 | ENSG00000103266 | 607207 | 16p13.3 | STIP1 homology and U-box containing protein 1 | 24312598[PMID]_24742043[PMID]_25258038[PMID]_24113144[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 families | Worldwide | Family(ies) | Validated | 24312598[PMID]_24742043[PMID]_25258038[PMID]_25592071[PMID]_24719489[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24312598[PMID]_24742043[PMID]_25258038[PMID]_25592071[PMID]_24719489[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
54 annotations · validated 2018-06-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001272 | Cerebellar atrophy | |
| HP:0001260 | Dysarthria | |
| HP:0002070 | Limb ataxia | |
| HP:0002078 | Truncal ataxia | |
| Frequent (79-30%) | ||
| HP:0012896 | Abnormal motor evoked potentials | |
| HP:0001181 | Adducted thumb | |
| HP:0001166 | Arachnodactyly | |
| HP:0001288 | Gait disturbance | |
| HP:0001347 | Hyperreflexia | |
| HP:0010831 | Impaired proprioception | |
| HP:0002172 | Postural instability | |
| HP:0005328 | Progeroid facial appearance | |
| HP:0002317 | Unsteady gait | |
| Occasional (29-5%) | ||
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0011448 | Ankle clonus | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0100543 | Cognitive impairment | |
| HP:0007371 | Corpus callosum atrophy | |
| HP:0003693 | Distal amyotrophy | |
| HP:0002015 | Dysphagia | |
| HP:0000640 | Gaze-evoked nystagmus | |
| HP:0001263 | Global developmental delay | |
| HP:0002378 | Hand tremor | |
| HP:0002346 | Head tremor | |
| HP:0000365 | Hearing impairment | |
| HP:0000666 | Horizontal nystagmus | |
| HP:0006801 | Hyperactive deep tendon reflexes | |
| HP:0000135 | Hypogonadism | |
| HP:0012110 | Hypoplasia of the pons | |
| HP:0002061 | Lower limb spasticity | |
| HP:0002354 | Memory impairment | |
| HP:0000639 | Nystagmus | |
| HP:0000602 | Ophthalmoplegia | |
| HP:0012104 | Parietal cortical atrophy | |
| HP:0002174 | Postural tremor | |
| HP:0002063 | Rigidity | |
| HP:0011098 | Speech apraxia | |
| Very rare (<4-1%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0012547 | Abnormal involuntary eye movements | |
| HP:0002679 | Abnormality of the sella turcica | |
| HP:0001596 | Alopecia | |
| HP:0012569 | Delayed menarche | |
| HP:0000501 | Glaucoma | |
| HP:0000821 | Hypothyroidism | |
| HP:0000789 | Infertility | |
| HP:0001094 | Iridocyclitis | |
| HP:0000657 | Oculomotor apraxia | |
| HP:0000876 | Oligomenorrhea | |
| HP:0001733 | Pancreatitis | |
| HP:0001105 | Retinal atrophy | |
| HP:0001152 | Saccadic smooth pursuit | |
| HP:0001250 | Seizure | |
| HP:0100651 | Type I diabetes mellitus | |
| HP:0005978 | Type II diabetes mellitus | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 24312598[PMID]_24113144[PMID]_24742043[PMID]_24719489[PMID]_25258038[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/412057
- This record as JSON: /data/d/412057.json