ORPHA:300605
Juvenile amyotrophic lateral sclerosis
Synonyms: JALS · Juvenile Charcot disease · Juvenile Lou Gehrig disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, Multigenic/multifactorial, X-linked dominant, X-linked recessive
- Age of onset
- Childhood
- Status
- active
A rare motor neuron disease characterized by onset before 25 years of age of progressive upper and/or lower motor neuron degeneration, leading to bulbar and limb motor impairment, with marked clinical and genetic heterogeneity.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Juvenile amyotrophic lateral sclerosis | JALS · Juvenile Charcot disease · Juvenile Lou Gehrig disease |
| fr | Sclérose latérale amyotrophique juvénile | JALS · Maladie de Charcot juvénile · Maladie de Lou Gehrig juvénile · SLAJ |
| de | Amyotrophe Lateralsklerose, juvenile | Charcot-Krankheit, juvenile · JALS · Lou-Gehrig-Krankheit, juvenile |
| es | Esclerosis lateral amiotrófica juvenil | Enfermedad de Charcot juvenil · Enfermedad de Lou-Gehrig juvenil · JALS |
| it | Sclerosi laterale amiotrofica giovanile | JALS · Malattia di Charcot giovanile · Malattia di Lou-Gehrig giovanile |
| nl | Juveniele amyotrofische laterale sclerose | Juveniele amyotrofe laterale sclerose · Juveniele ziekte van Charcot · Juveniele ziekte van Lou Gehrig · JALS |
| pt | Esclerose lateral amiotrófica juvenil | |
| pl | Młodzieńcze stwardnienie zanikowe boczne | JALS · Młodzieńcza choroba Charcota · Młodzieńcza choroba Lou Gehriga |
| cs | Juvenilní amyotrofická laterální skleróza | JALS · Juvenilní Charcotova nemoc · Juvenilní Lou Gehrigova nemoc |
| uk | Ювенільний бічний аміотрофічний склероз | JALS · Ювенільна хвороба Шарко · Ювенільна хвороба Лу Геріга |
| zh | 青少年肌萎缩侧索硬化症 | 青少年Lou Gehrig病 |
| tr | Jüvenil amyotrofik lateral skleroz | JALS · Jüvenil Charcot hastalığı · Jüvenil Lou Gehrig hastalığı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 205100 | BTNT | validated | |
| OMIM | 300857 | NTBT | validated | |
| OMIM | 602099 | BTNT | validated | |
| OMIM | 614373 | BTNT | validated | |
| OMIM | 620285 | BTNT | validated | |
| ICD-10 | G12.2 | NTBT | attributed | validated |
| MONDO | 0017593 | E | validated | |
| UMLS | C3468114 | E | validated | |
| GARD | 11901 | 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.
4
Genes
14 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ALS2 | Disease-causing germline mutation(s) in | Assessed | HGNC:443 | ENSG00000003393 | 606352 | 2q33.1 | alsin Rho guanine nucleotide exchange factor ALS2 | 23282280[PMID] |
| ATP13A2 | Disease-causing germline mutation(s) in | Assessed | HGNC:30213 | ENSG00000159363 | 610513 | 1p36.13 | ATPase cation transporting 13A2 | 30992063[PMID] |
| ERLIN1 | Disease-causing germline mutation(s) in | Assessed | HGNC:16947 | ENSG00000107566 | 611604 | 10q24.31 | ER lipid raft associated 1 | 29453415[PMID] |
| FUS | Disease-causing germline mutation(s) in | Assessed | HGNC:4010 | ENSG00000089280 | 137070 | 16p11.2 | FUS RNA binding protein | 20579074[PMID]_23046859[PMID]_22248478[PMID] |
| GNE | Disease-causing germline mutation(s) in | Assessed | HGNC:23657 | ENSG00000159921 | 603824 | 9p13.3 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | 29086072[PMID] |
| SIGMAR1 | Disease-causing germline mutation(s) in | Assessed | HGNC:8157 | ENSG00000147955 | 601978 | 9p13.3 | sigma non-opioid intracellular receptor 1 | 21842496[PMID]_24085347[PMID] |
| SORD | Disease-causing germline mutation(s) in | Assessed | HGNC:11184 | ENSG00000140263 | 182500 | 15q21.1 | sorbitol dehydrogenase | 34751056[PMID] |
| SPG11 | Disease-causing germline mutation(s) in | Assessed | HGNC:11226 | ENSG00000104133 | 610844 | 15q21.1 | SPG11 vesicle trafficking associated, spatacsin | 24085347[PMID]_22154821[PMID]_20110243[PMID] |
| SPTLC1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11277 | ENSG00000090054 | 605712 | 9q22.31 | serine palmitoyltransferase long chain base subunit 1 | 34459874[PMID] |
| SPTLC2 | Disease-causing germline mutation(s) in | Assessed | HGNC:11278 | ENSG00000100596 | 605713 | 14q24.3 | serine palmitoyltransferase long chain base subunit 2 | 38041679[PMID]_38041684[PMID] |
| SYNE1 | Disease-causing germline mutation(s) in | Assessed | HGNC:17089 | ENSG00000131018 | 608441 | 6q25.2 | spectrin repeat containing nuclear envelope protein 1 | 32870032[PMID]_15106121[PMID]_31957062[PMID] |
| TARDBP | Disease-causing germline mutation(s) in | Assessed | HGNC:11571 | ENSG00000120948 | 605078 | 1p36.22 | TAR DNA binding protein | 33159016[PMID]_36011394[PMID] |
| TRMT2B | Disease-causing germline mutation(s) in | Assessed | HGNC:25748 | ENSG00000188917 | 301128 | Xq22.1 | tRNA methyltransferase 2B | 37874476[PMID] |
| UBQLN2 | Disease-causing germline mutation(s) in | Assessed | HGNC:12509 | ENSG00000188021 | 300264 | Xp11.21 | ubiquilin 2 | 21857683[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | 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
46 annotations · validated 2020-10-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007354 | Amyotrophic lateral sclerosis | |
| HP:0003693 | Distal amyotrophy | |
| HP:0002061 | Lower limb spasticity | |
| HP:0001324 | Muscle weakness | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0006986 | Upper limb spasticity | |
| Frequent (79-30%) | ||
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0031960 | Arm dystonia | |
| HP:0001348 | Brisk reflexes | |
| HP:0002483 | Bulbar signs | |
| HP:0003429 | CNS hypomyelination | |
| HP:0100360 | Contractures of the joints of the upper limbs | |
| HP:0031936 | Delayed ability to walk | |
| HP:0002460 | Distal muscle weakness | |
| HP:0001332 | Dystonia | |
| HP:0001288 | Gait disturbance | |
| HP:0001276 | Hypertonia | |
| HP:0002540 | Inability to walk | |
| HP:0005750 | Lower-limb joint contracture | |
| HP:0100295 | Muscle fiber atrophy | |
| HP:0001264 | Spastic diplegia | |
| Occasional (29-5%) | ||
| HP:0001317 | Abnormal cerebellum morphology | |
| HP:0002425 | Anarthria | |
| HP:0001251 | Ataxia | |
| HP:0000708 | Atypical behavior | |
| HP:0002530 | Axial dystonia | |
| HP:0004326 | Cachexia | |
| HP:0002072 | Chorea | |
| HP:0002169 | Clonus | |
| HP:0100543 | Cognitive impairment | |
| HP:0002015 | Dysphagia | |
| HP:0011471 | Gastrostomy tube feeding in infancy | |
| HP:0001263 | Global developmental delay | |
| HP:0002599 | Head titubation | |
| HP:0000252 | Microcephaly | |
| HP:0003722 | Neck flexor weakness | |
| HP:0000639 | Nystagmus | |
| HP:0002179 | Opisthotonus | |
| HP:0012048 | Oromandibular dystonia | |
| HP:0001300 | Parkinsonism | |
| HP:0003701 | Proximal muscle weakness | |
| HP:0002544 | Retrocollis | |
| HP:0002650 | Scoliosis | |
| HP:0000605 | Supranuclear gaze palsy | |
| HP:0030051 | Tip-toe gait | |
| HP:0000020 | Urinary incontinence | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 24562058[PMID]_20301623[PMID]_31682085[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/300605
- This record as JSON: /data/d/300605.json