eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| autosomal recessive spastic ataxia of charlevoix-saguenay | ||||
| Disease ID | 1332 |
|---|---|
| Disease | autosomal recessive spastic ataxia of charlevoix-saguenay |
| Synonym | arsacs - autosomal recessive spastic ataxia of charlevoix-saguenay autosomal recessive spastic ataxia of charlevoix-saguenay (disorder) charlevoix-saguenay spastic ataxia spastic ataxia 6, autosomal recessive spastic ataxia charlevoix-saguenay type spastic ataxia of charlevoix-saguenay spastic ataxia, charlevoix-saguenay type |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C1849140 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:2) |
| Locus | Symbol | Locus(Total Locus:1) SACS | 13q12.12 |
| Disease ID | 1332 |
|---|---|
| Disease | autosomal recessive spastic ataxia of charlevoix-saguenay |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:28) HP:0000639 | Nystagmus HP:0007922 | Retinal striation HP:0006150 | Swan neck-like deformities of the fingers HP:0001310 | Dysmetria HP:0002936 | Decreased distal sensation HP:0002166 | Decreased lower limb vibratory sense HP:0002527 | Falls HP:0001257 | Spasticity HP:0001765 | Hammertoes HP:0007772 | Impaired smooth pursuit HP:0002460 | Weakness of distal muscles HP:0000012 | Urinary urgency HP:0001249 | Mental retardation HP:0000762 | Decreased NCV HP:0003387 | Decreased number of large peripheral myelinated nerve fibers HP:0003693 | Muscle atrophy, distal HP:0003448 | Decreased sensory nerve conduction velocities HP:0007221 | Progressive truncal ataxia HP:0007001 | Loss of Purkinje cells in the cerebellar vermis HP:0001761 | Pes cavus HP:0002497 | Spastic ataxia HP:0006855 | Atrophy of the cerebellar vermis HP:0001347 | Hyperreflexia HP:0007240 | Gait ataxia, progressive HP:0003438 | Absent Achilles reflex HP:0003487 | Extensor plantar reflexes HP:0001260 | Dysarthric speech HP:0002168 | Explosive speech |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1332 |
|---|---|
| Disease | autosomal recessive spastic ataxia of charlevoix-saguenay |
| 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:24) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs137853016 | NA | 26278 | SACS | umls:C1849140 | CLINVAR | NA | 0.488414698 | NA | SACS | 13 | 23331656 | C | G |
| rs137853017 | NA | 26278 | SACS | umls:C1849140 | CLINVAR | NA | 0.488414698 | NA | SACS | 13 | 23338040 | A | G |
| rs137853018 | NA | 26278 | SACS | umls:C1849140 | CLINVAR | NA | 0.488414698 | NA | SACS | 13 | 23334134 | A | G |
| rs137853019 | NA | 26278 | SACS | umls:C1849140 | CLINVAR | NA | 0.488414698 | NA | SACS | 13 | 23340715 | A | G |
| rs140551762 | NA | 26278 | SACS | umls:C1849140 | CLINVAR | NA | 0.488414698 | NA | SACS | 13 | 23335483 | G | C,T |
| rs140551762 | 20876471 | 26278 | SACS | umls:C1849140 | UNIPROT | Mutations in SACS cause atypical and late-onset forms of ARSACS. | 0.488414698 | 2010 | SACS | 13 | 23335483 | G | C,T |
| rs141315518 | NA | 26278 | SACS | umls:C1849140 | CLINVAR | NA | 0.488414698 | NA | SACS | 13 | 23331644 | G | A,C,T |
| rs201505036 | 20876471 | 26278 | SACS | umls:C1849140 | UNIPROT | Mutations in SACS cause atypical and late-onset forms of ARSACS. | 0.488414698 | 2010 | SACS | 13 | 23332922 | G | T |
| rs281865117 | NA | 26278 | SACS | umls:C1849140 | CLINVAR | NA | 0.488414698 | NA | SACS | 13 | 23335032 | A | - |
| rs281865118 | NA | 26278 | SACS | umls:C1849140 | CLINVAR | NA | 0.488414698 | NA | SACS | 13 | 23336372 | G | A |
| rs281865119 | NA | 26278 | SACS | umls:C1849140 | CLINVAR | NA | 0.488414698 | NA | SACS | 13 | 23332969 | C | T |
| rs281865120 | NA | 26278 | SACS | umls:C1849140 | CLINVAR | NA | 0.488414698 | NA | SACS | 13 | 23331716 | G | A |
| rs606231163 | NA | 26278 | SACS | umls:C1849140 | CLINVAR | NA | 0.488414698 | NA | SACS | 13 | 23339842 | - | G |
| rs727503785 | NA | 26278 | SACS | umls:C1849140 | CLINVAR | NA | 0.488414698 | NA | SACS | 13 | 23340287 | A | G |
| rs762947018 | NA | 26278 | SACS | umls:C1849140 | CLINVAR | NA | 0.488414698 | NA | SACS | 13 | 23330903 | G | A,T |
| rs773840580 | NA | 26278 | SACS | umls:C1849140 | CLINVAR | NA | 0.488414698 | NA | SACS | 13 | 23340547 | - | T |
| rs775059063 | NA | 26278 | SACS | umls:C1849140 | CLINVAR | NA | 0.488414698 | NA | SACS | 13 | 23341436 | AT | - |
| rs780247476 | NA | 26278 | SACS | umls:C1849140 | CLINVAR | NA | 0.488414698 | NA | SACS | 13 | 23332970 | G | A |
| rs786204416 | NA | 26278 | SACS | umls:C1849140 | CLINVAR | NA | 0.488414698 | NA | SACS | 13 | 23333409 | AG | - |
| rs786204628 | NA | 26278 | SACS | umls:C1849140 | CLINVAR | NA | 0.488414698 | NA | SACS | 13 | 23331022 | CTCT | - |
| rs786204750 | NA | 26278 | SACS | umls:C1849140 | CLINVAR | NA | 0.488414698 | NA | SACS | 13 | 23336600 | G | A |
| rs797044608 | NA | 26278 | SACS | umls:C1849140 | CLINVAR | NA | 0.488414698 | NA | SACS | 13 | 23335026 | - | TG |
| rs797045936 | NA | 26278 | SACS | umls:C1849140 | CLINVAR | NA | 0.488414698 | NA | SACS | 13 | 23330348 | - | T |
| rs797045937 | NA | 26278 | SACS | umls:C1849140 | CLINVAR | NA | 0.488414698 | NA | SACS | 13 | 23354692 | GT | - |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:7) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0006855 | Cerebellar vermis atrophy | 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:0007240 | Progressive gait ataxia | 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:0003448 | Decreased sensory nerve conduction velocity | MP:0002651 | abnormal sciatic nerve morphology | any structural anomaly of the nerve which originates in the lumbar and sacral spinal cord (L4 to S3) and supplies motor and sensory innervation to the lower extremity |
| HP:0002936 | Distal sensory impairment | MP:0000965 | abnormal sensory neuron morphology | any structural anomaly of cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of sensory impulses |
| HP:0000762 | Decreased nerve conduction velocity | MP:0008814 | decreased nerve conduction velocity | decrease in the rate at which an electrical impulse travels through a nerve |
| HP:0002460 | Distal muscle weakness | MP:0000748 | progressive muscle weakness | increasing loss of muscle strength over time |
| HP:0003387 | Decreased number of large peripheral myelinated nerve fibers | MP:0010732 | abnormal node of Ranvier morphology | any structural anomaly of the short unmyelinated segments of an axon between myelinated segments, where voltage gated channels accumulate and regenerate an action potential as it is conducted along the axon |
Mapped by homologous gene(Total Items:24) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0007772 | Impaired smooth pursuit | MP:0020187 | altered susceptibility to prion infection | altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is |
| HP:0001347 | Hyperreflexia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000012 | Urinary urgency | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| 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:0001310 | Dysmetria | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0006855 | Cerebellar vermis atrophy | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0001765 | Hammertoe | MP:0014062 | nervous system inclusion bodies | nuclear or cytoplasmic aggregates of stainable substances within cells of the nervous system |
| HP:0001260 | Dysarthria | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0003387 | Decreased number of large peripheral myelinated nerve fibers | MP:0013438 | dysmyelination | reduced amount of myelin present in the form of a myelin sheath surrounding an axon due to defects in the synthesis and formation of myelin |
| HP:0003438 | Absent Achilles reflex | MP:0013438 | dysmyelination | reduced amount of myelin present in the form of a myelin sheath surrounding an axon due to defects in the synthesis and formation of myelin |
| HP:0001761 | Pes cavus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000639 | Nystagmus | 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:0002497 | Spastic ataxia | MP:0011635 | abnormal mitochondrial crista morphology | Any of the inward folds of the mitochondrial inner membrane; crista number, extent, and shape differ in mitochondria from different tissues and organisms; crista appear to be devices for increasing the surface area of the mitochondrial inner membrane, whe |
| HP:0003693 | Distal amyotrophy | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002168 | Scanning speech | MP:0013438 | dysmyelination | reduced amount of myelin present in the form of a myelin sheath surrounding an axon due to defects in the synthesis and formation of myelin |
| HP:0000762 | Decreased nerve conduction velocity | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| 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:0002166 | Impaired vibration sensation in the lower limbs | 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:0002936 | Distal sensory impairment | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002527 | Falls | MP:0014059 | abnormal photoreceptor connecting cilium morphology | any structural anomaly of the nonmotile primary cilium that has a 9+0 microtubule array and forms the portion of the axoneme traversing the boundary between the retinal photoreceptor inner and outer segments |
| HP:0002460 | Distal muscle weakness | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0003448 | Decreased sensory nerve conduction velocity | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0007240 | Progressive gait ataxia | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| Disease ID | 1332 |
|---|---|
| Disease | autosomal recessive spastic ataxia of charlevoix-saguenay |
| Case | (Waiting for update.) |