Spastic paraplegia-severe developmental delay-epilepsy syndrome
Synonyms: SPPRS syndrome · Spastic paraplegia-psychomotor retardation-seizures syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spastic paraplegia-severe developmental delay-epilepsy syndrome | SPPRS syndrome · Spastic paraplegia-psychomotor retardation-seizures syndrome |
| fr | Syndrome de paraplégie spastique-retard de développement sévère-épilepsie | Syndrome de paraplégie spastique-retard psychomoteur-épilepsie |
| de | Spastische Paraplegie-schwere Entwicklungsverzögerungen-Epilepsie-Syndrom | SPPRS-Syndrom · Spastische Paraplegie-psychomotorische Retardierung-Krämpfe-Syndrom |
| es | Síndrome de paraplejía espástica-retraso grave del desarrollo-epilepsia | Síndrome SPPRS |
| it | Sindrome da paraplegia spastica, grave ritardo dello sviluppo ed epilessia | |
| nl | Spastische paraplegie - ernstige ontwikkelingsachterstand - epilepsie-syndroom | SPPRS-syndroom · Spastische paraplegie - psychomotorische retardatie - insulten-syndroom |
| pt | Síndrome de paraplegia espástica-atraso psicomotor grave-epilepsia | |
| pl | Zespół paraplegii spastycznej, ciężkiego opóźnienia w rozwoju i padaczki | Zespół SPPRS · Zespół paraplegii spastycznej, opóźnienia psychoruchowego i napadów padaczkowych |
| cs | Syndrom zahrnující spastickou paraplegii, těžké vývojové opoždění a epilepsii | SPPRS syndrome · Spastic paraplegia-psychomotor retardation-seizures syndrome · SPPRS syndrom · Syndrom zahrnující spastickou paraplegii, psychomotorickou retardaci a záchvaty |
| uk | Синдром спастичної параплегії-тяжкої затримки розвитку-епілепсії | Синдром спастичної параплегії-психомоторної загальмованості-судомних нападів · Синдром SPPRS |
| zh | 痉挛性截瘫-严重发育迟缓-癫痫综合征 | 痉挛性截瘫-精神运动迟缓-癫痫综合征 |
| tr | Spastik parapleji-ağır gelişme geriliği-epilepsi sendromu | SPPRS sendromu · Spastik parapleji-psikomotor retardasyon-nöbet sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616756 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0014764 | E | validated | |
| UMLS | C5568869 | 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:100981Autosomal recessive complex spastic paraplegia
rare genetic diseases; rare neurological diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:166472Monogenic disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HACE1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:21033 | ENSG00000085382 | 610876 | 6q16.3 | HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | 26424145[PMID]_26437029[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 16 cases | Worldwide | Case(s) | Validated | 26424145[PMID]_26437029[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26424145[PMID]_26437029[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
40 annotations · validated 2018-10-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001263 | Global developmental delay | Diagnostic criterion |
| HP:0007020 | Progressive spastic paraplegia | Diagnostic criterion |
| HP:0001250 | Seizure | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0031087 | Absent pubertal growth spurt | |
| HP:0001251 | Ataxia | |
| HP:0008936 | Axial hypotonia | |
| HP:0000490 | Deeply set eye | |
| HP:0000750 | Delayed speech and language development | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0001260 | Dysarthria | |
| HP:0001332 | Dystonia | |
| HP:0025313 | Exophoria | |
| HP:0001288 | Gait disturbance | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0002827 | Hip dislocation | |
| HP:0000316 | Hypertelorism | |
| HP:0001249 | Intellectual disability | |
| HP:0002808 | Kyphosis | |
| HP:0002061 | Lower limb spasticity | |
| HP:0000545 | Myopia | |
| HP:0000556 | Retinal dystrophy | |
| HP:0002650 | Scoliosis | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0001257 | Spasticity | |
| HP:0002317 | Unsteady gait | |
| HP:0002515 | Waddling gait | |
| Occasional (29-5%) | ||
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0002059 | Cerebral atrophy | |
| HP:0012762 | Cerebral white matter atrophy | |
| HP:0011401 | Delayed peripheral myelination | |
| HP:0011166 | Focal myoclonic seizure | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0000252 | Microcephaly | |
| HP:0001513 | Obesity | |
| HP:0008373 | Puberty and gonadal disorders | |
| HP:0004322 | Short stature | |
| HP:0010219 | Structural foot deformity | |
| HP:0000020 | Urinary incontinence | |
| Excluded (0%) | ||
| HP:0001437 | Abnormality of the musculature of the lower limbs | |
| HP:0002380 | Fasciculations | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 26424145[PMID]_26437029[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/464282
- This record as JSON: /data/d/464282.json