ORPHA:101000
Autosomal recessive spastic paraplegia type 20
Synonyms: Childhood-onset spastic paraparesis-distal muscle wasting syndrome · SPG20 · Troyer syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the <i>SPG20</i> gene (13q13.1), which encodes the protein spartin.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive spastic paraplegia type 20 | Childhood-onset spastic paraparesis-distal muscle wasting syndrome · SPG20 · Troyer syndrome |
| fr | Paraplégie spastique autosomique récessive type 20 | SPG20 · Syndrome de Troyer · Syndrome de paraparésie spastique de l'enfance-amyotrophie distale |
| de | Spastische Paraplegie, autosomal-rezessive, Typ 20 | SPG20 · Spastische Paraplegie, hereditäre - distaler Muskelschwund · Troyer-Syndrom |
| es | Paraplejía espástica autosómica recesiva tipo 20 | SPG20 · Síndrome de Troyer |
| it | Paraplegia spastica autosomica recessiva, tipo 20 | Paraplegia spastica a esordio infantile - atrofia muscolare distale · SPG20 · Sindrome di Troyer |
| nl | Autosomaal recessieve spastische paraplegie type 20 | SPG20 · Spastische paraparese met aanvang in de kinderjaren - distale musculaire atrofie · Spastische paraparese met aanvang in de kinderjaren - distale spieratrofie · Troyersyndroom |
| pt | Paraplegia espástica autossómica recessiva tipo 20 | SPG20 · Síndorme Troyer |
| pl | Autosomalna recesywna paraplegia spastyczna typu 20 | Paraplegia spastyczna o początku w wieku dziecięcym - zanik mięsni dystalnych · SPG20 · Zespół Troyera |
| cs | Autozomálně recesivní spastická paraplegie, typ 20 | SPG20 · Syndrom zahrnující v dětství začínající spastickou paraparézu a plýtvání distálních svalů · Troyerův syndrom |
| uk | Аутосомно-рецесивна спастична параплегія, тип 20 | Дитячий синдром спастичного паралічу - дистального виснаження мязів · SPG20 · Синдром Троєра |
| zh | 常染色体隐性遗传痉挛性截瘫20型 | 儿童起病痉挛性截瘫-远端肌肉萎缩综合征 |
| tr | Otozomal resesif spastik parapleji tip 20 | SPG20 · Troyer sendromu · Çocukluk çağı başlangıçlı spastik paraparezi-distal kas kaybı sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 275900 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.01 | NTBT | index | validated |
| MONDO | 0010156 | E | validated | |
| MeSH | C536858 | E | validated | |
| UMLS | C0393559 | E | validated | |
| GARD | 5372 | 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:100981Autosomal recessive complex spastic paraplegia
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 |
|---|---|---|---|---|---|---|---|---|
| SPART | Disease-causing germline mutation(s) in | Assessed | HGNC:18514 | ENSG00000133104 | 607111 | 13q13.3 | spartin | 12134148[PMID]_20437587[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 36 cases | Worldwide | Case(s) | Validated | 28679690[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28679690[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
52 annotations · validated 2018-04-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001317 | Abnormal cerebellum morphology | |
| HP:0001760 | Abnormal foot morphology | |
| HP:0005922 | Abnormal hand morphology | |
| HP:0012443 | Abnormality of brain morphology | |
| HP:0001155 | Abnormality of the hand | |
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0003487 | Babinski sign | |
| HP:0100543 | Cognitive impairment | |
| HP:0002019 | Constipation | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001260 | Dysarthria | |
| HP:0002015 | Dysphagia | |
| HP:0100518 | Dysuria | |
| HP:0001290 | Generalized hypotonia | |
| HP:0001263 | Global developmental delay | |
| HP:0001510 | Growth delay | |
| HP:0001347 | Hyperreflexia | |
| HP:0000316 | Hypertelorism | |
| HP:0002495 | Impaired vibratory sensation | |
| HP:0001382 | Joint hypermobility | |
| HP:0001270 | Motor delay | |
| HP:0011094 | Overbite | |
| HP:0004322 | Short stature | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0001350 | Slurred speech | |
| HP:0002464 | Spastic dysarthria | |
| HP:0002313 | Spastic paraparesis | |
| HP:0001257 | Spasticity | |
| HP:0001328 | Specific learning disability | |
| HP:0003484 | Upper limb muscle weakness | |
| Occasional (29-5%) | ||
| HP:0001172 | Abnormal thumb morphology | |
| HP:0005288 | Abnormality of the nares | |
| HP:0011448 | Ankle clonus | |
| HP:0000739 | Anxiety | |
| HP:0030084 | Clinodactyly | |
| HP:0003693 | Distal amyotrophy | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000712 | Emotional lability | |
| HP:0000286 | Epicanthus | |
| HP:0002857 | Genu valgum | |
| HP:0000738 | Hallucinations | |
| HP:0001609 | Hoarse voice | |
| HP:0000369 | Low-set ears | |
| HP:0000252 | Microcephaly | |
| HP:0025269 | Panic attack | |
| HP:0001761 | Pes cavus | |
| HP:0000448 | Prominent nose | |
| HP:0000709 | Psychosis | |
| HP:0002360 | Sleep abnormality | |
| HP:0002064 | Spastic gait | |
| HP:0011098 | Speech apraxia | |
| Very rare (<4-1%) | ||
| HP:0000126 | Hydronephrosis | |
Annotation source: 18413476[PMID]_20437587[PMID]_26003402[PMID]_27112432[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/101000
- This record as JSON: /data/d/101000.json