ORPHA:506353
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
Synonyms: Autosomal recessive complex SPG due to Kennedy pathway dysfunction · Autosomal recessive spastic paraplegia type 81
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare genetic neurological disorder characterized by progressive spastic paraparesis and delayed gross motor development with an onset in infancy or early childhood. Patients also show variable degrees of intellectual disability, speech delay, and dysarthria. Other reported features include microcephaly, seizures, bifid uvula with or without cleft palate, and ocular anomalies. Brain imaging shows white matter abnormalities in the periventricular and other regions.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction | Autosomal recessive complex SPG due to Kennedy pathway dysfunction · Autosomal recessive spastic paraplegia type 81 |
| fr | Paraplégie spastique complexe autosomique récessive par dysfonctionnement de la voie de Kennedy | HSP complexe autosomique récessive par dysfonctionnement de la voie de Kennedy · Paraplégie spastique autosomique récessive type 81 |
| de | Autosomal-rezessive komplexe spastische Paraplegie durch Störung im Kennedy-Stoffwechselweg | Autosomal-rezessive komplizierte SPG durch Störung des Kennedy-Stoffwechselweges · Spastische Paraplegie, autosomal-rezessive, Typ 81 |
| es | Paraplejía espástica compleja autosómica recesiva por disfunción de la vía de Kennedy | Paraplejía espástica autosómica recesiva tipo 81 · SPG compleja autosómica recesiva por disfunción de la vía de Kennedy |
| it | Paraplegia spastica complessa autosomica recessiva da disfunzione della via di Kennedy | Paraplegia spastica autosomica recessiva tipo 81 · SPG complessa autosomica recessiva da disfunzione della via di Kennedy |
| nl | Autosomaal recessieve complexe spastische paraplegie door disfunctie van Kennedy-reactiepad | Autosomaal recessieve complexe SPG door disfunctie van Kennedy-reactiepad · Autosomaal recessieve spastische paraplegie type 81 |
| pt | Paraplegia espástica complexa autossómica recessiva por disfunção da via Kennedy | Paraparesia espástica autossómica recessiva tipo 81 · Paraparesia espástica complexa autossómica recessiva por disfunção da via Kennedy · Paraplegia espástica autossómica recessiva tipo 81 · SPG complexa autossómica recessiva por disfunção da via Kennedy |
| pl | Autosomalna recesywna złożona spastyczna paraplegia spowodowana dysfunkcją szlaku Kennedy’ego | = en |
| cs | Autozomálně recesivní komplexní spastická paraplegie způsobená dysfunkcí Kennedyho dráhy | Autozomálně recesivní komplexní SPG způsobená dysfunkcí Kennedyho dráhy |
| uk | Аутосомно-рецесивна складна спастична параплегія, зумовлена дисфункцієюї шляху Кеннеді | Аутосомно-рецесивний складний SPG внаслідок дисфункції шляху Кеннеді · Аутосомно-рецесивна спастична параплегія, тип 81 |
| zh | Kennedy通路功能障碍所致常染色体隐性复合型痉挛性偏瘫 | Autosomal recessive complex SPG due to Kennedy pathway dysfunction |
| tr | Kennedy yolu disfonksiyonuna bağlı otozomal resesif kompleks spastik parapleji | Kennedy yolu disfonksiyonuna bağlı otozomal çekinik kompleks SPG |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618768 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.01 | NTBT | attributed | validated |
| MONDO | 0044737 | E | validated | |
| UMLS | C5568576 | 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 (4):
- ORPHA:100981Autosomal recessive complex spastic paraplegia
rare genetic diseases; rare neurological diseases - ORPHA:352306Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
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 |
|---|---|---|---|---|---|---|---|---|
| SELENOI | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:29361 | ENSG00000138018 | 607915 | 2p23.3 | selenoprotein I | 28052917[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 28052917[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28052917[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
22 annotations · validated 2018-12-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0011448 | Ankle clonus | |
| HP:0002194 | Delayed gross motor development | |
| HP:0002395 | Lower limb hyperreflexia | |
| HP:0000252 | Microcephaly | |
| HP:0008848 | Moderately short stature | |
| HP:0008376 | Nasal, dysarthic speech | |
| HP:0007199 | Progressive spastic paraparesis | |
| HP:0007020 | Progressive spastic paraplegia | |
| HP:0002191 | Progressive spasticity | |
| HP:0007814 | Retinal pigment epithelial mottling | |
| Frequent (79-30%) | ||
| HP:0003487 | Babinski sign | |
| HP:0000193 | Bifid uvula | |
| HP:0007768 | Central retinal vessel vascular tortuosity | |
| HP:0000175 | Cleft palate | |
| HP:0007220 | Demyelinating motor neuropathy | |
| HP:0030625 | Hyporeflective spaces on macular OCT | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0007663 | Reduced visual acuity | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0004302 | Functional motor deficit | |
| HP:0030182 | Tetraplegia/tetraparesis | |
| HP:0002493 | Upper motor neuron dysfunction | |
Run the differential on the 10 obligate / very frequent terms
Annotation source: 28052917[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/506353
- This record as JSON: /data/d/506353.json