eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| juvenile primary lateral sclerosis | ||||
| Disease ID | 1882 |
|---|---|
| Disease | juvenile primary lateral sclerosis |
| Definition | A very rare motor neuron disease with characteristics of progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence and subsequently, loss of motor speech production. Affected patients are usually normal at birth and have normal early development. During the second year of life, they lose the ability to walk (some patients never walk due to early severe spasticity) and then develop slowly progressive upper motor neuron disorders including pseudobulbar palsy and spastic quadriplegia. Other signs include clumsiness, muscle weakness and balance difficulties. Mutations in the ALS2 gene (2q33-q35) encoding alsin, a protein that is abundant in motor neurons, and less commonly mutations in the ERLIN2 gene (8p11.2) have been reported. Inherited in an autosomal recessive manner. |
| Synonym | juvenile primary lateral sclerosis (disorder) pls, juvenile plsj primary lateral sclerosis juvenile primary lateral sclerosis, juvenile |
| Orphanet | |
| OMIM | |
| UMLS | C1853396 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 1882 |
|---|---|
| Disease | juvenile primary lateral sclerosis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:23) HP:0000183 | Difficulty in tongue movements HP:0002015 | Dysphagia HP:0007256 | Abnormal pyramidal signs HP:0002491 | Spasticity of facial muscles HP:0001152 | Saccadic pursuit movements HP:0002501 | Spasticity of pharyngeal muscles HP:0001257 | Spasticity HP:0002064 | Spastic gait HP:0002127 | Abnormal shape of upper motor neuron HP:0002141 | Gait imbalance HP:0002120 | Cerebral cortical atrophy HP:0001285 | Spastic tetraparesis HP:0002371 | Loss of speech HP:0000763 | Sensory neuropathy HP:0002193 | Pseudobulbar behavioral symptoms HP:0002015 | Swallowing difficulty HP:0002464 | Spastic dysarthria HP:0000014 | Abnormality of the bladder HP:0002127 | Abnormal upper motor neuron morphology HP:0001324 | Muscle weakness HP:0001347 | Hyperreflexia HP:0003487 | Extensor plantar reflexes HP:0003202 | Skeletal muscle atrophy |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1882 |
|---|---|
| Disease | juvenile primary lateral sclerosis |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs386134176 | NA | 57679 | ALS2 | umls:C1853396 | CLINVAR | NA | 0.361357209 | NA | ALS2;LOC105373839 | 2 | 201757447 | CT | - |
| rs386134178 | NA | 57679 | ALS2 | umls:C1853396 | CLINVAR | NA | 0.361357209 | NA | ALS2;LOC105373839 | 2 | 201754524 | C | T |
| rs386134181 | NA | 57679 | ALS2 | umls:C1853396 | CLINVAR | NA | 0.361357209 | NA | ALS2 | 2 | 201746696 | AG | - |
| rs386134184 | NA | 57679 | ALS2 | umls:C1853396 | CLINVAR | NA | 0.361357209 | NA | ALS2 | 2 | 201726868 | T | C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:9) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002064 | Spastic gait | MP:0001406 | abnormal gait | abnormal pattern of movement of the limbs of animals, characterized by elements of progression, stability, speed and length over the ground |
| HP:0007256 | Abnormal pyramidal signs | MP:0009940 | abnormal hippocampus pyramidal cell morphology | any structural anomaly of a multipolar projection neuron in the hippocampus pyramidal cell layer; pyramidal cells have a pyramid-shaped soma with the apex and an apical dendrite pointed toward the pial surface and other dendrites and an axon emerging from |
| HP:0003202 | Skeletal muscle atrophy | MP:0014068 | abnormal muscle glycogen level | the normal concentration of a readily converted carbohydrate reserve in muscle tissue |
| HP:0002120 | Cerebral cortical atrophy | MP:0012506 | brain atrophy | acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan |
| HP:0002193 | Pseudobulbar behavioral symptoms | MP:0002573 | behavioral despair | depression assayed by reduced escape attempts and/or immobility when placed in a stressful situation such as a forced swim test or a suspension test; or failure to seek pleasurable stimuli |
| HP:0001324 | Muscle weakness | MP:0000746 | weakness | state of being infirm or less strong than normal |
| HP:0002127 | Abnormal upper motor neuron morphology | MP:0011448 | decreased dopaminergic neuron number | fewer than normal numbers of the neurons that utilize dopamine as a neurotransmitter |
| HP:0000183 | Difficulty in tongue movements | MP:0004936 | impaired branching involved in ureteric bud morphogenesis | partial or complete failure of the ureteric bud to repeatedly divide into lobules during development of the kidney |
| HP:0002371 | Loss of speech | MP:0009403 | increased variability of skeletal muscle fiber size | greater range or dispersion within a distribution of skeletal muscle fiber size within a muscle compared to controls |
Mapped by homologous gene(Total Items:20) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002501 | Spasticity of pharyngeal muscles | MP:0012506 | brain atrophy | acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan |
| HP:0007256 | Abnormal pyramidal signs | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002491 | Spasticity of facial muscles | MP:0012506 | brain atrophy | acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan |
| HP:0002064 | Spastic gait | MP:0013905 | preputial gland inflammation | local accumulation of fluid, plasma proteins, and leukocytes in any of the paired, lobulated, modified sebaceous glands located in the inguinal region adjacent to the penis and vagina, with pheromonal functions in male rodents; in males, the preputial gla |
| HP:0001257 | Spasticity | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002141 | Gait imbalance | MP:0013279 | increased fasted circulating glucose level | increase in the amount of glucose in the blood at some defined time point after eating compared to controls |
| HP:0002120 | Cerebral cortical atrophy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002464 | Spastic dysarthria | MP:0012506 | brain atrophy | acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan |
| HP:0000183 | Difficulty in tongue movements | MP:0012506 | brain atrophy | acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan |
| HP:0002127 | Abnormal upper motor neuron morphology | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002015 | Dysphagia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001285 | Spastic tetraparesis | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002371 | Loss of speech | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002193 | Pseudobulbar behavioral symptoms | MP:0012506 | brain atrophy | acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan |
| HP:0001347 | Hyperreflexia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0003487 | Babinski sign | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0003202 | Skeletal muscle atrophy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001152 | Saccadic smooth pursuit | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0001324 | Muscle weakness | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000763 | Sensory neuropathy | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| Disease ID | 1882 |
|---|---|
| Disease | juvenile primary lateral sclerosis |
| Case | (Waiting for update.) |