Autosomal spastic paraplegia type 18
Synonyms: SPG18
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
Autosomal spastic paraplegia type 18 (SPG18) is a rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the <i>ERLIN2</i> gene (8p11.2) encoding the protein, Erlin-2.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal spastic paraplegia type 18 | SPG18 |
| fr | Paraplégie spastique autosomique type 18 | = en |
| de | Spastische Paraplegie Typ 18 | = en |
| es | Paraplejía espástica autosómica tipo 18 | = en |
| it | Paraplegia spastica autosomica tipo 18 | = en |
| nl | Autosomale spastische paraplegie type 18 | = en |
| pt | Paraplegia espástica autossómica tipo 18 | = en |
| pl | Autosomalna recesywna paraplegia spastyczna typu 18 | = en |
| cs | Autozomálně recesivní spastická paraplegie, typ 18 | = en |
| uk | Аутосомна спастична параплегія, тип 18 | = en |
| zh | 常染色体隐性遗传痉挛性截瘫18型 | = en |
| tr | Otozomal resesif spastik parapleji tip 18 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611225 | BTNT | validated | |
| OMIM | 620512 | BTNT | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| MONDO | 0012639 | E | validated | |
| MeSH | C567628 | E | validated | |
| UMLS | C2749936 | E | validated | |
| GARD | 4922 | 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:320342Pure or complex autosomal dominant 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.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ERLIN2 | Disease-causing germline mutation(s) in | Assessed | HGNC:1356 | ENSG00000147475 | 611605 | 8p11.23 | ER lipid raft associated 2 | 21330303[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 16636240[PMID]_23109145[PMID]_21796390[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_16636240[PMID]_23109145[PMID]_21796390[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
34 annotations · validated 2020-10-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006466 | Ankle flexion contracture | |
| HP:0012453 | Bilateral wrist flexion contracture | |
| HP:0002460 | Distal muscle weakness | |
| HP:0002987 | Elbow flexion contracture | |
| HP:0001371 | Flexion contracture | |
| HP:0001263 | Global developmental delay | |
| HP:0001347 | Hyperreflexia | |
| HP:0007350 | Hyperreflexia in upper limbs | |
| HP:0002540 | Inability to walk | |
| HP:0001249 | Intellectual disability | |
| HP:0006380 | Knee flexion contracture | |
| Frequent (79-30%) | ||
| HP:0001344 | Absent speech | |
| HP:0003487 | Babinski sign | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0000158 | Macroglossia | |
| HP:0001257 | Spasticity | |
| HP:0000154 | Wide mouth | |
| Occasional (29-5%) | ||
| HP:0100712 | Abnormal lumbar spine morphology | |
| HP:0000377 | Abnormal pinna morphology | |
| HP:0011448 | Ankle clonus | |
| HP:0002015 | Dysphagia | |
| HP:0005830 | Flexion contracture of toe | |
| HP:0002378 | Hand tremor | |
| HP:0000218 | High palate | |
| HP:0003273 | Hip contracture | |
| HP:0000666 | Horizontal nystagmus | |
| HP:0002166 | Impaired vibration sensation in the lower limbs | |
| HP:0005997 | Restricted neck movement due to contractures | |
| HP:0001583 | Rotary nystagmus | |
| HP:0001250 | Seizure | |
| HP:0000322 | Short philtrum | |
| HP:0003306 | Spinal rigidity | |
| HP:0000664 | Synophrys | |
| HP:0000574 | Thick eyebrow | |
Run the differential on the 11 obligate / very frequent terms
Annotation source: 20301682[PMID]_21330303[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/209951
- This record as JSON: /data/d/209951.json