Autosomal recessive cerebelloparenchymal disorder type 3
Synonyms: Autosomal recessive spinocerebellar ataxia type 2 · SCAR2
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood, Infancy
- Status
- active
A rare autosomal recessive cerebellar ataxia characterized by early onset of non- or slowly progressive cerebellar signs and symptoms including truncal and gait ataxia, dysarthria, dysmetria, dysdiadochokinesis, tremor, and nystagmus. Delayed psychomotor development and intellectual disability are variable. Additional reported features are spasticity, hypotonia, cataracts, and sensorineural hearing loss, among others. Brain imaging shows cerebellar atrophy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive cerebelloparenchymal disorder type 3 | Autosomal recessive spinocerebellar ataxia type 2 · SCAR2 |
| fr | Ataxie cérébelleuse autosomique récessive type 3 | Ataxie spinocérébelleuse autosomique récessive type 2 · SCAR2 |
| de | Zerebello-parenchymale Krankheit, autosomal-rezessive, Typ 3 | Ataxie, spinozerebelläre, autosomal-rezessive, Typ 2 · SCAR2 |
| es | Trastorno cerebeloparenquimatoso autosómico recesivo tipo 3 | Ataxia espinocerebelosa autosómica recesiva tipo 2 · SCAR2 |
| it | Disturbo cerebelloparenchimale autosomico recessivo, tipo 3 | SCAR2 |
| nl | Autosomaal recessieve cerebelloparenchymale aandoening type 3 | Autosomaal recessieve spinocerebellaire ataxie type 2 · SCAR2 |
| pt | Doença cerebeloparenquimatosa autossómica recessiva tipo 3 | |
| pl | Autosomalne recesywne zaburzenie miąższu móżdżku typu 3 | SCAR2 · Autosomalna recesywna ataksja rdzeniowo-móżdżkowa typu 2 |
| cs | Autozomálně recesivní cerebeloparenchymální porucha, typ 3 | SCAR2 |
| uk | Аутосомно-рецесивний церебелопаренхіматозний розлад, тип 3 | Аутосомно-рецесивна спіноцеребеллярна атаксія типу 2 · SCAR2 |
| zh | 常染色体隐性遗传小脑皮质病3型 | 常染色体隐性遗传脊髓小脑共济失调2型 |
| tr | Otozomal resesif serebelloparenkimal bozukluk tip 3 | SCAR2 · Otozomal Çekinik spinoserebellar ataksi tip 2 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 213200 | E | validated | |
| ICD-10 | G11.0 | NTBT | attributed | validated |
| MONDO | 0008943 | E | validated | |
| MeSH | C565865 | E | validated | |
| UMLS | C1859298 | E | validated | |
| GARD | 1199 | 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 (4):
- ORPHA:98095Autosomal recessive congenital 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 - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PMPCA | Disease-causing germline mutation(s) in | Assessed | HGNC:18667 | ENSG00000165688 | 613036 | 9q34.3 | peptidase, mitochondrial processing subunit alpha | 25808372[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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
29 annotations · validated 2020-05-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001251 | Ataxia | |
| HP:0031936 | Delayed ability to walk | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001260 | Dysarthria | |
| HP:0001310 | Dysmetria | |
| HP:0002066 | Gait ataxia | |
| HP:0000640 | Gaze-evoked nystagmus | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| Frequent (79-30%) | ||
| HP:0001348 | Brisk reflexes | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0006855 | Cerebellar vermis atrophy | |
| HP:0100543 | Cognitive impairment | |
| HP:0002506 | Diffuse cerebral atrophy | |
| HP:0001252 | Hypotonia | |
| HP:0001324 | Muscle weakness | |
| HP:0000657 | Oculomotor apraxia | |
| HP:0001763 | Pes planus | |
| HP:0002275 | Poor motor coordination | |
| HP:0007272 | Progressive psychomotor deterioration | |
| Occasional (29-5%) | ||
| HP:0002198 | Dilated fourth ventricle | |
| HP:0002280 | Enlarged cisterna magna | |
| HP:0010794 | Impaired visuospatial constructive cognition | |
| HP:0003128 | Lactic acidosis | |
| HP:0000602 | Ophthalmoplegia | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0004322 | Short stature | |
| HP:0001257 | Spasticity | |
| HP:0001337 | Tremor | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 25808372[PMID]_20301317[PMID]_29891078[PMID]_31267374[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1170
- This record as JSON: /data/d/1170.json