eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| infantile-onset ascending hereditary spastic paralysis | ||||
| Disease ID | 1632 |
|---|---|
| Disease | infantile-onset ascending hereditary spastic paralysis |
| Synonym | hereditary spastic paralysis, infantile onset ascending iahsp iahsp - infantile onset ascending hereditary spastic paralysis infantile ascending hereditary spastic paralysis infantile ascending hereditary spastic paralysis (disorder) spastic paralysis, infantile onset ascending spastic paralysis, infantile-onset ascending |
| Orphanet | |
| OMIM | |
| UMLS | C2931441 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) ALS2 | 2q33.1 |
| Disease ID | 1632 |
|---|---|
| Disease | infantile-onset ascending hereditary spastic paralysis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:11) HP:0001257 | Spasticity HP:0001258 | Spastic paraplegia HP:0000496 | Abnormality of eye movement HP:0001347 | Hyperreflexia HP:0002193 | Pseudobulbar behavioral symptoms HP:0002445 | Tetraplegia HP:0007256 | Abnormal pyramidal signs HP:0002425 | Anarthria HP:0005216 | Chewing difficulties HP:0001260 | Dysarthria HP:0002510 | Spastic tetraplegia |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1632 |
|---|---|
| Disease | infantile-onset ascending hereditary spastic paralysis |
| 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:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121908139 | 18523452 | 57679 | ALS2 | umls:C2931441 | BeFree | Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: the first cases from northwestern Europe. | 0.245624334 | 2008 | ALS2 | 2 | 201744285 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000496 | Abnormality of eye movement | MP:0012287 | increased frequency of paradoxical sleep | increased incidence or duration of the sleep stage in which dreams occur and the body undergoes marked changes including rapid eye movement, loss of reflexes, and increased pulse rate and brain activity |
| 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: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 |
Mapped by homologous gene(Total Items:11) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002425 | Anarthria | 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:0001258 | Spastic paraplegia | 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:0007256 | Abnormal pyramidal signs | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0000496 | Abnormality of eye movement | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0002510 | Spastic tetraplegia | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| 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:0005216 | Chewing difficulties | MP:0011089 | perinatal lethality, complete penetrance | death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1) |
| HP:0002445 | Tetraplegia | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0001260 | Dysarthria | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| Disease ID | 1632 |
|---|---|
| Disease | infantile-onset ascending hereditary spastic paralysis |
| Case | (Waiting for update.) |