Spinocerebellar ataxia with axonal neuropathy type 1
Synonyms: SCAN1
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent
- Status
- active
Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spinocerebellar ataxia with axonal neuropathy type 1 | SCAN1 |
| fr | Syndrome d'ataxie spinocérébelleuse-neuropathie axonale type 1 | = en |
| de | Ataxie, spinozerebelläre mit axonaler Neuropathie, Typ 1 | = en |
| es | Ataxia espinocerebelosa con neuropatía axonal tipo 1 | = en |
| it | Atassia spinocerebellare associata a neuropatia assonale, tipo 1 | = en |
| nl | Spinocerebellaire ataxie met axonale neuropathie type 1 | = en |
| pt | Ataxia espinocerebelosa com neuropatia axonal tipo 1 | |
| pl | Ataksja rdzeniowo-móżdżkowa 1 z neuropatią aksonalną | = en |
| cs | Spinocerebelární ataxie, typ 1 s axonální neuropatií | = en |
| uk | Спіноцеребеллярна атаксія з аксональною нейропатією, тип 1 | = en |
| zh | 脊髓小脑性共济失调伴轴索神经病1型 | = en |
| tr | Aksonal nöropati tip 1 ile seyreden spinoserebellar ataksi | TARAMA1 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607250 | E | validated | |
| ICD-10 | G60.2 | NTBT | attributed | validated |
| MONDO | 0011801 | E | validated | |
| UMLS | C4759870 | E | validated | |
| GARD | 10000 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:98097Autosomal recessive cerebellar ataxia due to a DNA repair defect
rare genetic diseases; rare neurological diseases - ORPHA:98497Genetic peripheral neuropathy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TDP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:18884 | ENSG00000042088 | 607198 | 14q32.11 | tyrosyl-DNA phosphodiesterase 1 | 20301284[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_12244316[PMID] |
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 12244316[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.
HPO phenotypes
20 annotations · validated 2018-10-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001284 | Areflexia | |
| HP:0001251 | Ataxia | |
| HP:0006855 | Cerebellar vermis atrophy | |
| HP:0003693 | Distal amyotrophy | |
| HP:0009053 | Distal lower limb muscle weakness | |
| HP:0000640 | Gaze-evoked nystagmus | |
| HP:0002283 | Global brain atrophy | |
| HP:0003124 | Hypercholesterolemia | |
| HP:0003073 | Hypoalbuminemia | |
| HP:0006858 | Impaired distal proprioception | |
| HP:0002166 | Impaired vibration sensation in the lower limbs | |
| HP:0007021 | Pain insensitivity | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0001761 | Pes cavus | |
| HP:0007141 | Sensorimotor neuropathy | |
| HP:0002464 | Spastic dysarthria | |
| HP:0002503 | Spinocerebellar tract degeneration | |
| HP:0003376 | Steppage gait | |
| Occasional (29-5%) | ||
| HP:0001250 | Seizure | |
| Excluded (0%) | ||
| HP:0001249 | Intellectual disability | |
Annotation source: 15744309[PMID]_12244316[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/94124
- This record as JSON: /data/d/94124.json