PedAM
Pediatric Disease Annotations & Medicines
| cerebellar ataxia | ||||
| Disease ID | 374 |
|---|---|
| Disease | cerebellar ataxia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:18) C2315430 | orthostatic tremor C1867923 | posterior column ataxia C1861457 | progressive encephalomyelitis with rigidity C1839611 | n syndrome C0917796 | leber's hereditary optic neuropathy (lhon) C0752303 | urological manifestation C0752166 | bardet-biedl syndrome C0520966 | incoordination C0431401 | gillespie syndrome C0426980 | motor symptoms C0423479 | ear symptoms C0234355 | asynergia C0085292 | stiff-person syndrome C0042024 | incontinence C0027145 | myxedema C0014574 | physeal dysplasia C0007570 | coeliac disease C0004135 | ataxia telangiectasia |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:12) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894107 | 9989622 | 2395 | FXN | umls:C0007758 | BeFree | In contrast, the only two missense mutations located in the amino-terminal half of mature frataxin (D122Y and G130V) cause an atypical and milder clinical presentation (early-onset spastic gait with slow disease progression, absence of dysarthria, retained or brisk tendon reflexes, and mild or no cerebellar ataxia), suggesting that they only partially affect frataxin function. | 0.002638474 | 1999 | FXN | 9 | 69064942 | G | C,T |
| rs11538758 | 18566986 | 5621 | PRNP | umls:C0007758 | BeFree | Our aim was to screen for the P102L and other six known PRNP gene mutations (P105L, A117V, Y145X, E200K, D202N, and V210I) a group of 206 consecutive patients diagnosed with adult-onset cerebellar ataxia of unknown origin. | 0.000271442 | 2008 | PRNP | 20 | 4699534 | C | A,T |
| rs121908221 | 22549042 | 773 | CACNA1A | umls:C0007758 | BeFree | Here, we explored the effects of G protein-dependent modulation on mutations W1684R and V1696I which cause FHM-1 with and without cerebellar ataxia, respectively. | 0.013440067 | 2012 | CACNA1A | 19 | 13235637 | A | G |
| rs121908224 | 22549042 | 773 | CACNA1A | umls:C0007758 | BeFree | Here, we explored the effects of G protein-dependent modulation on mutations W1684R and V1696I which cause FHM-1 with and without cerebellar ataxia, respectively. | 0.013440067 | 2012 | CACNA1A | 19 | 13235262 | C | T |
| rs142157346 | 9989622 | 2395 | FXN | umls:C0007758 | BeFree | In contrast, the only two missense mutations located in the amino-terminal half of mature frataxin (D122Y and G130V) cause an atypical and milder clinical presentation (early-onset spastic gait with slow disease progression, absence of dysarthria, retained or brisk tendon reflexes, and mild or no cerebellar ataxia), suggesting that they only partially affect frataxin function. | 0.002638474 | 1999 | FXN | 9 | 69053240 | G | T |
| rs28933385 | 18566986 | 5621 | PRNP | umls:C0007758 | BeFree | Our aim was to screen for the P102L and other six known PRNP gene mutations (P105L, A117V, Y145X, E200K, D202N, and V210I) a group of 206 consecutive patients diagnosed with adult-onset cerebellar ataxia of unknown origin. | 0.000271442 | 2008 | PRNP | 20 | 4699818 | G | A |
| rs386134168 | 16547918 | 5582 | PRKCG | umls:C0007758 | BeFree | We report on a family with an autosomal dominant cerebellar ataxia in which we identified a novel mutation in exon 5 of the PRKCG/SCA14 gene that results in a Val138Glu substitution in the encoded protein PKCgamma. | 0.007620235 | 2006 | PRKCG | 19 | 53889901 | T | A,C |
| rs74315401 | 18566986 | 5621 | PRNP | umls:C0007758 | BeFree | Our aim was to screen for the P102L and other six known PRNP gene mutations (P105L, A117V, Y145X, E200K, D202N, and V210I) a group of 206 consecutive patients diagnosed with adult-onset cerebellar ataxia of unknown origin. | 0.000271442 | 2008 | PRNP | 20 | 4699525 | C | T |
| rs74315402 | 18566986 | 5621 | PRNP | umls:C0007758 | BeFree | Our aim was to screen for the P102L and other six known PRNP gene mutations (P105L, A117V, Y145X, E200K, D202N, and V210I) a group of 206 consecutive patients diagnosed with adult-onset cerebellar ataxia of unknown origin. | 0.000271442 | 2008 | PRNP | 20 | 4699570 | C | T |
| rs74315407 | 18566986 | 5621 | PRNP | umls:C0007758 | BeFree | Our aim was to screen for the P102L and other six known PRNP gene mutations (P105L, A117V, Y145X, E200K, D202N, and V210I) a group of 206 consecutive patients diagnosed with adult-onset cerebellar ataxia of unknown origin. | 0.000271442 | 2008 | PRNP | 20 | 4699848 | G | A |
| rs80356710 | 18566986 | 5621 | PRNP | umls:C0007758 | BeFree | Our aim was to screen for the P102L and other six known PRNP gene mutations (P105L, A117V, Y145X, E200K, D202N, and V210I) a group of 206 consecutive patients diagnosed with adult-onset cerebellar ataxia of unknown origin. | 0.000271442 | 2008 | PRNP | 20 | 4699655 | T | G |
| rs80356713 | 11843825 | 22 | ABCB7 | umls:C0007758 | BeFree | X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L. | 0.000271442 | 2001 | ABCB7 | X | 75070499 | C | G,A |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
Chemical(Total Drugs:14) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0007758 | baclofen | D001418 | 1134-47-0 | cerebellar ataxia | MESH:D002524 | therapeutic | 11096749 | ||
| C0007758 | buspirone | D002065 | 36505-84-7 | cerebellar ataxia | MESH:D002524 | therapeutic | 11096749 | ||
| C0007758 | carbamazepine | D002220 | 298-46-4 | cerebellar ataxia | MESH:D002524 | marker/mechanism | 9008782 | ||
| C0007758 | fluorouracil | D005472 | 51-21-8 | cerebellar ataxia | MESH:D002524 | marker/mechanism | 4099631 | ||
| C0007758 | folic acid | D005492 | 59-30-3 | cerebellar ataxia | MESH:D002524 | therapeutic | 4022349 | ||
| C0007758 | gabapentin | C040029 | 60142-96-3 | cerebellar ataxia | MESH:D002524 | therapeutic | 11096749 | ||
| C0007758 | lidocaine | D008012 | 137-58-6 | cerebellar ataxia | MESH:D002524 | marker/mechanism | 15039479 | ||
| C0007758 | octreotide | D015282 | 83150-76-9 | cerebellar ataxia | MESH:D002524 | marker/mechanism | 18463367 | ||
| C0007758 | oxaliplatin | C030110 | - | cerebellar ataxia | MESH:D002524 | marker/mechanism | 18945862 | ||
| C0007758 | pefloxacin | D015366 | 70458-92-3 | cerebellar ataxia | MESH:D002524 | marker/mechanism | 3165976 | ||
| C0007758 | phenytoin | D010672 | 57-41-0 | cerebellar ataxia | MESH:D002524 | marker/mechanism | 10367328 | ||
| C0007758 | propranolol | D011433 | 525-66-6 | cerebellar ataxia | MESH:D002524 | therapeutic | 11096749 | ||
| C0007758 | tacrolimus | D016559 | 109581-93-3 | cerebellar ataxia | MESH:D002524 | marker/mechanism | 16530436 | ||
| C0007758 | thiamine | D013831 | 59-43-8 | cerebellar ataxia | MESH:D002524 | therapeutic | 4022349 | ||
FDA approved drug and dosage information(Total Drugs:10) | ||||||||
|---|---|---|---|---|---|---|---|---|
| DiseaseID | Drug_name | active_ingredients | strength | Dosage Form/Route | Marketing Status | TE code | RLD | RS |
| MESH:D002524 | neurontin | gabapentin | 100MG | CAPSULE;ORAL | Prescription | AB | Yes | No |
| MESH:D002524 | neurontin | gabapentin | 600MG | TABLET;ORAL | Prescription | AB | Yes | No |
| MESH:D002524 | neurontin | gabapentin | 250MG/5ML | SOLUTION;ORAL | Prescription | AA | Yes | Yes |
| MESH:D002524 | neurontin | gabapentin | 0 | SOLUTION; ORAL | Prescription | None | No | No |
| MESH:D002524 | neurontin | gabapentin | 600MG | TABLET; ORAL | Prescription | None | No | No |
| MESH:D002524 | neurontin | gabapentin | 800MG | CAPSULE; ORAL | Prescription | None | No | No |
| MESH:D002524 | neurontin | gabapentin | 250MG/5ML | SOLUTION; ORAL | Prescription | None | No | No |
| MESH:D002524 | eloxatin | oxaliplatin | 50MG/VIAL Federal Register determination that product was not discontinued or withdrawn for safety or efficacy reasons | INJECTABLE;IV (INFUSION) | Discontinued | None | Yes | No |
| MESH:D002524 | eloxatin | oxaliplatin | 50MG/10ML (5MG/ML) | INJECTABLE;IV (INFUSION) | Prescription | AP | Yes | Yes |
| MESH:D002524 | oxaliplatin | oxaliplatin | 50MG/10ML (5MG/ML) | INJECTABLE;IV (INFUSION) | Prescription | AP | Yes | Yes |
FDA labeling changes(Total Drugs:10) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DiseaseID | Pediatric_Labeling_Date | Trade_Name | Generic_Name_or_Proper_Name | Indications Studied | Label Changes Summary | Product Labeling | BPCA(B) | PREA(P) | BPCA(B) and PREA(P) | Pediatric Rule (R) | Sponsor | Pediatric Exclusivity Granted Date | NNPS |
| MESH:D002524 | 12/10/2000 | neurontin | gabapentin | Adjunctive therapy in the treatment of partial seizures | Safety and effectiveness established down to 3 years Neuropsychiatric AE's identified in 3-12 year olds Oral clearance normalized per body weight increased in children | Labeling | B | - | - | - | Parke-Davis | 2/2/2000 | FALSE' |
| MESH:D002524 | 12/10/2000 | neurontin | gabapentin | Adjunctive therapy in the treatment of partial seizures | Safety and effectiveness established down to 3 years Neuropsychiatric AE's identified in 3-12 year olds Oral clearance normalized per body weight increased in children | Labeling | B | - | - | - | Parke-Davis | 2/2/2000 | FALSE' |
| MESH:D002524 | 12/10/2000 | neurontin | gabapentin | Adjunctive therapy in the treatment of partial seizures | Safety and effectiveness established down to 3 years Neuropsychiatric AE's identified in 3-12 year olds Oral clearance normalized per body weight increased in children | Labeling | B | - | - | - | Parke-Davis | 2/2/2000 | FALSE' |
| MESH:D002524 | 12/10/2000 | neurontin | gabapentin | Adjunctive therapy in the treatment of partial seizures | Safety and effectiveness established down to 3 years Neuropsychiatric AE's identified in 3-12 year olds Oral clearance normalized per body weight increased in children | Labeling | B | - | - | - | Parke-Davis | 2/2/2000 | FALSE' |
| MESH:D002524 | 12/10/2000 | neurontin | gabapentin | Adjunctive therapy in the treatment of partial seizures | Safety and effectiveness established down to 3 years Neuropsychiatric AE's identified in 3-12 year olds Oral clearance normalized per body weight increased in children | Labeling | B | - | - | - | Parke-Davis | 2/2/2000 | FALSE' |
| MESH:D002524 | 12/10/2000 | neurontin | gabapentin | Adjunctive therapy in the treatment of partial seizures | Safety and effectiveness established down to 3 years Neuropsychiatric AE's identified in 3-12 year olds Oral clearance normalized per body weight increased in children | Labeling | B | - | - | - | Parke-Davis | 2/2/2000 | FALSE' |
| MESH:D002524 | 12/10/2000 | neurontin | gabapentin | Adjunctive therapy in the treatment of partial seizures | Safety and effectiveness established down to 3 years Neuropsychiatric AE's identified in 3-12 year olds Oral clearance normalized per body weight increased in children | Labeling | B | - | - | - | Parke-Davis | 2/2/2000 | FALSE' |
| MESH:D002524 | 10/1/2007 | eloxatin | oxaliplatin | Solid tumors | The effectiveness of oxaliplatin in children has not been established No significant activity observed in 2 Phase I and 2 Phase II trials in 159 patients ages 7 months to 22 years with solid tumors Information on clinical studies and AEs | Labeling | B | - | - | - | Sanofi-Aventis | 09/27/2006 | FALSE' |
| MESH:D002524 | 10/1/2007 | eloxatin | oxaliplatin | Solid tumors | The effectiveness of oxaliplatin in children has not been established No significant activity observed in 2 Phase I and 2 Phase II trials in 159 patients ages 7 months to 22 years with solid tumors Information on clinical studies and AEs | Labeling | B | - | - | - | Sanofi-Aventis | 09/27/2006 | FALSE' |
| MESH:D002524 | 10/1/2007 | eloxatin | oxaliplatin | Solid tumors | The effectiveness of oxaliplatin in children has not been established No significant activity observed in 2 Phase I and 2 Phase II trials in 159 patients ages 7 months to 22 years with solid tumors Information on clinical studies and AEs | Labeling | B | - | - | - | Sanofi-Aventis | 09/27/2006 | FALSE' |