Spastic paraplegia-optic atrophy-neuropathy syndrome
Synonyms: SPOAN
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spastic paraplegia-optic atrophy-neuropathy syndrome | SPOAN |
| fr | Syndrome paraplégie spastique-atrophie optique-neuropathie | Paraplégie spastique autosomique récessive type 68 · SPG68 · SPOAN |
| de | Spastische Paraplegie-Optikusatrophie-Neuropathie-Syndrom | = en |
| es | Síndrome de paraplejía espástica-atrofia óptica-neuropatía | = en |
| it | Sindrome paraplegia spastica-atrofia ottica-neuropatia | = en |
| nl | Spastische paraplegie - opticusatrofie - neuropathie-syndroom | = en |
| pt | Síndrome de paraplegia espástica-atrofia óptica-neuropatia | |
| pl | Zespół paraplegia spastyczna-zanik nerwu wzrokowego-neuropatia | = en |
| cs | Syndrom zahrnující spastickou paraplegii, atrofii optiku a neuropatii | = en |
| uk | Синдром спастичної параплегії - атрофії зорового нерва - нейропатії | = en |
| zh | 痉挛性截瘫-视神经萎缩-神经病综合征 | SPOAN综合征 |
| tr | Spastik parapleji-optik atrofi-nöropati sendromu | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609541 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.01 | NTBT | attributed | validated |
| MONDO | 0012297 | E | validated | |
| MeSH | C563702 | E | validated | |
| UMLS | C1836010 | 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 (1):
- ORPHA:431320Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder
rare genetic diseases; rare neurological diseases; rare ophthalmic disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:401825Autosomal recessive spastic paraplegia type 68 moved to · inactive
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KLC2 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:20716 | ENSG00000174996 | 611729 | 11q13.2 | kinesin light chain 2 | 26385635[PMID] |
| FLRT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3760 | ENSG00000126500 | 604806 | 11q13.1 | fibronectin leucine rich transmembrane protein 1 | 24482476[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 75 cases | Worldwide | Case(s) | Validated | 26385635[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26385635[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 2018-11-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003693 | Distal amyotrophy | |
| HP:0002828 | Multiple joint contractures | |
| HP:0000648 | Optic atrophy | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0003380 | Decreased number of peripheral myelinated nerve fibers | |
| HP:0002194 | Delayed gross motor development | |
| HP:0008944 | Distal lower limb amyotrophy | |
| HP:0001260 | Dysarthria | |
| HP:0002267 | Exaggerated startle response | |
| HP:0001288 | Gait disturbance | |
| HP:0000975 | Hyperhidrosis | |
| HP:0007054 | Hyperreflexia proximally | |
| HP:0002600 | Hyporeflexia of lower limbs | |
| HP:0002166 | Impaired vibration sensation in the lower limbs | |
| HP:0000543 | Optic disc pallor | |
| HP:0003477 | Peripheral axonal neuropathy | Diagnostic criterion |
| HP:0001761 | Pes cavus | |
| HP:0007020 | Progressive spastic paraplegia | Diagnostic criterion |
| HP:0002650 | Scoliosis | |
| Occasional (29-5%) | ||
| HP:0002071 | Abnormality of extrapyramidal motor function | |
| HP:0000639 | Nystagmus | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 15852396[PMID]_19344448[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/320406
- This record as JSON: /data/d/320406.json