ORPHA:2822
Autosomal recessive spastic paraplegia type 11
Synonyms: Nakamura-Osame syndrome · SPG11 · Spastic paraplegia-intellectual disability-thin corpus callosum syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
A complex hereditary spastic paraplegia characterized by progressive lower limbs weakness and spasticity, upper limbs weakness, dysarthria, hypomimia, sphincter disturbances, peripheral neuropathy, learning difficulties, cognitive impairment and dementia. Magnetic resonance imaging shows thin corpus callosum, cerebral atrophy, and periventricular white matter changes.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive spastic paraplegia type 11 | Nakamura-Osame syndrome · SPG11 · Spastic paraplegia-intellectual disability-thin corpus callosum syndrome |
| fr | Paraplégie spastique autosomique récessive type 11 | SPG11 · Syndrome de Nakamura-Osame · Syndrome de paraplégie spastique-déficience intellectuelle-corps calleux fin |
| de | Spastische Paraplegie, autosomal-rezessive, Typ 11 | Nakamura-Osame-Syndrom · SPG11 · Spastische Paraplegie-Intelligenzminderung-dünnes Corpus callosum-Syndrom |
| es | Paraplejía espástica autosómica recesiva tipo 11 | SPG11 · Síndrome de Nakamura-Osame · Síndrome de paraparesia espástica-discapacidad intelectual-adelgazamiento del cuerpo calloso · Síndrome de paraplejía espástica-discapacidad intelectual-cuerpo calloso delgado |
| it | Paraplegia spastica autosomica recessiva, tipo 11 | Sindrome paraplegia spastica-disabilità intellettiva-corpo calloso sottile · SPG11 · Sindrome di Nakamura-Osame |
| nl | Autosomaal recessieve spastische paraplegie type 11 | SPG11 · Spastische paraplegie - intellectuele achterstand - dun corpus callosum-syndroom · Syndroom van Nakamura-Osame |
| pt | Paraplegia espástica autossómica recessiva tipo 11 | SPG11 · Síndrome Nakamura-Osame · Síndrome de paraplegia espástica-perturbação do desenvolvimento intelectual-corpo caloso fino |
| pl | Autosomala recesywna paraplegia spastyczna typu 11 | Paraplegia spastyczna - niepełnosprawność intelektualna - cienkie ciało modzelowate · SPG11 · Zespół Nakamura i Osame |
| cs | Autozomálně recesivní spastická paraplegie, typ 11 | SPG11 · Syndrom zahrnující spastickou paraplegii, mentální retardaci a tenké corpus callosum · Nakamuraův-Osameův syndrom · Nakamura-Osameův syndrom |
| uk | Аутосомно-рецесивна спастична параплегія, тип 11 | Синдром Накамура-Осаме · Синдром спастичної параплегії - інтелектуальної недостатності - тонкого мозолистого тіла · SPG11 |
| zh | 常染色体隐性痉挛性截瘫11型 | 痉挛性截瘫-智力障碍-薄胼胝体综合征 |
| tr | Otozomal resesif spastik parapleji tip 11 | SPG11 · Nakamura-Osame sendromu · Spastik parapleji-zihinsel yetersizlik-ince korpus kallozum sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604360 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.01 | NTBT | index | validated |
| MONDO | 0011445 | E | validated | |
| MeSH | C538335 | E | validated | |
| UMLS | C2931821 | E | validated | |
| GARD | 4919 | 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:320346Pure or complex autosomal recessive 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.
Codes that Orphanet moved or referred to this one:
- ORPHA:2168Homocarnosinosis moved to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SPG11 | Disease-causing germline mutation(s) in | Assessed | HGNC:11226 | ENSG00000104133 | 610844 | 15q21.1 | SPG11 vesicle trafficking associated, spatacsin | 19105190[PMID]_17322883[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.26 / 100 000 | Portugal | Value and class | Validated | 23609960[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
49 annotations · validated 2021-04-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0001268 | Mental deterioration | |
| HP:0007178 | Motor polyneuropathy | |
| HP:0002385 | Paraparesis | |
| HP:0003477 | Peripheral axonal neuropathy | |
| HP:0002191 | Progressive spasticity | |
| HP:0007141 | Sensorimotor neuropathy | |
| HP:0001328 | Specific learning disability | |
| Frequent (79-30%) | ||
| HP:0030455 | Abnormality of pattern visual evoked potentials | |
| HP:0001251 | Ataxia | |
| HP:0000708 | Atypical behavior | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0001260 | Dysarthria | |
| HP:0002015 | Dysphagia | |
| HP:0003482 | EMG: axonal abnormality | |
| HP:0003445 | EMG: neuropathic changes | |
| HP:0000712 | Emotional lability | |
| HP:0006913 | Frontal cortical atrophy | |
| HP:0001288 | Gait disturbance | |
| HP:0030890 | Hyperintensity of cerebral white matter on MRI | |
| HP:0007350 | Hyperreflexia in upper limbs | |
| HP:0002540 | Inability to walk | |
| HP:0006956 | Lateral ventricle dilatation | |
| HP:0002354 | Memory impairment | |
| HP:0000639 | Nystagmus | |
| HP:0001152 | Saccadic smooth pursuit | |
| HP:0000736 | Short attention span | |
| Occasional (29-5%) | ||
| HP:0002071 | Abnormality of extrapyramidal motor function | |
| HP:0045007 | Abnormality of the substantia nigra | |
| HP:0006827 | Atrophy of the spinal cord | |
| HP:0000726 | Dementia | |
| HP:0003693 | Distal amyotrophy | |
| HP:0007183 | Focal T2 hyperintense basal ganglia lesion | |
| HP:0009055 | Generalized limb muscle atrophy | |
| HP:0025058 | Hypothalamic atrophy | |
| HP:0001004 | Lymphedema | |
| HP:0001513 | Obesity | |
| HP:0001278 | Orthostatic hypotension | |
| HP:0025502 | Overweight | |
| HP:0001300 | Parkinsonism | |
| HP:0001761 | Pes cavus | |
| HP:0000709 | Psychosis | |
| HP:0000546 | Retinal degeneration | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0000486 | Strabismus | |
| HP:0000505 | Visual impairment | |
Run the differential on the 10 obligate / very frequent terms
Annotation source: 32355960[PMID]_32593884[PMID]_20301389[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2822
- This record as JSON: /data/d/2822.json