ORPHA:247604
Juvenile primary lateral sclerosis
Synonyms: JPLS · Juvenile PLS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Juvenile primary lateral sclerosis | JPLS · Juvenile PLS |
| fr | Sclérose latérale primitive juvénile | JPLS · PLS juvénile · SLP juvénile |
| de | Lateralsklerose, juvenile primäre | = en |
| es | Esclerosis lateral primaria juvenil | ELP juvenil · JPLS · PLS juvenil |
| it | Sclerosi laterale primitiva giovanile | JPLS · PLS giovanile |
| nl | Juveniele primaire laterale sclerose | JPLS · Juveniele PLS |
| pt | Esclero lateral primária juvenil | |
| pl | Młodzieńcze pierwotne stwardnienie boczne | JplS · Młodzieńcze plS |
| cs | Juvenilní primární laterální skleróza | JPLS · Juvenilní PLS |
| uk | Ювенільний первинний бічний склероз | JPLS · Ювенільна PLS |
| zh | 少年型原发性侧索硬化症 | 少年型PLS |
| tr | Juvenil primer lateral skleroz | JPLS · jüvenil PLS |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606353 | E | validated | |
| ICD-10 | G12.2 | NTBT | attributed | validated |
| MONDO | 0011663 | E | validated | |
| MeSH | C536416 | E | validated | |
| UMLS | C1853396 | E | validated | |
| GARD | 4485 | 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 (1):
- ORPHA:98505Genetic motor neuron disease
rare genetic diseases; rare neurological diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ERLIN2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:1356 | ENSG00000147475 | 611605 | 8p11.23 | ER lipid raft associated 2 | 23109145[PMID] |
| ALS2 | Disease-causing germline mutation(s) in | Assessed | HGNC:443 | ENSG00000003393 | 606352 | 2q33.1 | alsin Rho guanine nucleotide exchange factor ALS2 | 19122027[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 | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
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
15 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0002127 | Abnormal upper motor neuron morphology | |
| HP:0002141 | Gait imbalance | |
| HP:0001347 | Hyperreflexia | |
| HP:0001324 | Muscle weakness | |
| HP:0002193 | Pseudobulbar behavioral symptoms | |
| HP:0002064 | Spastic gait | |
| HP:0001285 | Spastic tetraparesis | |
| HP:0001257 | Spasticity | |
| Frequent (79-30%) | ||
| HP:0002015 | Dysphagia | |
| HP:0002371 | Loss of speech | |
| HP:0002464 | Spastic dysarthria | |
| Occasional (29-5%) | ||
| HP:0000014 | Abnormality of the bladder | |
| HP:0000763 | Sensory neuropathy | |
| HP:0003202 | Skeletal muscle atrophy | |
Run the differential on the 9 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/247604
- This record as JSON: /data/d/247604.json