PedAM
Pediatric Disease Annotations & Medicines
| hereditary neuropathy with liability to pressure palsy | ||||
| Disease ID | 1634 |
|---|---|
| Disease | hereditary neuropathy with liability to pressure palsy |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:5) HP:0001324 | Muscular weakness HP:0001265 | Decreased tendon reflexes HP:0003481 | Segmental peripheral demyelination/remyelination HP:0001605 | Vocal cord paralysis HP:0003431 | Decreased motor nerve conduction velocities |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1634 |
|---|---|
| Disease | hereditary neuropathy with liability to pressure palsy |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:14) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894619 | 11081809 | 5376 | PMP22 | umls:C0393814 | BeFree | Using allele-specific PCR we identified 14 [allele frequency (AF)=0.007] in the German general population, one (AF=0.01) in the HNPP group and six (AF=0.016) and two (AF=0.05) carriers of the PMP22 Thr118Met mutation in the CMT1 groups with and without gene defect. | 0.595558885 | 2000 | PMP22 | 17 | 15231047 | G | A |
| rs104894619 | 26012543 | 5376 | PMP22 | umls:C0393814 | BeFree | The severe sensorimotor polyneuropathy and hereditary neuropathy with liability to pressure palsies (HNPP) in this patient was likely a consequence of both decreased expression of PMP22 causing features consistent with HNPP and unopposed expression of the T118M mutant form of PMP22 that is relatively benign in the heterozygous state. | 0.595558885 | 2015 | PMP22 | 17 | 15231047 | G | A |
| rs104894619 | NA | 5376 | PMP22 | umls:C0393814 | CLINVAR | NA | 0.595558885 | NA | PMP22 | 17 | 15231047 | G | A |
| rs104894619 | 9852256 | 5376 | PMP22 | umls:C0393814 | BeFree | Autosomal dominant Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies: detection of the recombination in Slovene patients and exclusion of the potentially recessive Thr118Met PMP22 point mutation. | 0.595558885 | 1998 | PMP22 | 17 | 15231047 | G | A |
| rs104894619 | 14502374 | 5376 | PMP22 | umls:C0393814 | BeFree | The Thr(118)Met substitution in the peripheral myelin protein 22 (PMP22) gene has been detected in a number of families with demyelinating Charcot-Marie-Tooth (CMT1) neuropathy or with the hereditary neuropathy with liability to pressure palsy, but in none of them has it consistently segregated with the peripheral neuropathy. | 0.595558885 | 2003 | PMP22 | 17 | 15231047 | G | A |
| rs104894619 | 11081809 | 4359 | MPZ | umls:C0393814 | BeFree | Using allele-specific PCR we identified 14 [allele frequency (AF)=0.007] in the German general population, one (AF=0.01) in the HNPP group and six (AF=0.016) and two (AF=0.05) carriers of the PMP22 Thr118Met mutation in the CMT1 groups with and without gene defect. | 0.004885954 | 2000 | PMP22 | 17 | 15231047 | G | A |
| rs104894623 | NA | 5376 | PMP22 | umls:C0393814 | CLINVAR | NA | 0.595558885 | NA | PMP22 | 17 | 15239591 | C | T,G |
| rs104894625 | 15205993 | 5376 | PMP22 | umls:C0393814 | BeFree | A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes. | 0.595558885 | 2004 | PMP22 | 17 | 15260663 | G | A |
| rs104894625 | NA | 5376 | PMP22 | umls:C0393814 | CLINVAR | NA | 0.595558885 | NA | PMP22 | 17 | 15260663 | G | A |
| rs377335295 | 9748013 | 5376 | PMP22 | umls:C0393814 | BeFree | This study provides unequivocal evidence that a base pair change causing a Val30Met substitution at the junction of the first TM domain and the extracellular loop of PMP22 results in the HNPP phenotype. | 0.595558885 | 1998 | PMP22 | 17 | 15259184 | C | G,T |
| rs4280262 | 24668782 | 9516 | LITAF | umls:C0393814 | BeFree | In our patients, early-onset HNPP was associated frequently with isoleucine92valine LITAF polymorphism. | 0.000542884 | 2014 | LITAF | 16 | 11553636 | T | C |
| rs4280262 | 25342198 | 9516 | LITAF | umls:C0393814 | BeFree | Overall, this study shows that the I92V LITAF sequence variant would be a good candidate for a biomarker in the case of the CMT1A/HNPP disorders. | 0.000542884 | 2014 | LITAF | 16 | 11553636 | T | C |
| rs587776691 | NA | 5376 | PMP22 | umls:C0393814 | CLINVAR | NA | 0.595558885 | NA | PMP22 | 17 | 15260708 | CT | - |
| rs80338763 | NA | 5376 | PMP22 | umls:C0393814 | CLINVAR | NA | 0.595558885 | NA | PMP22 | 17 | 15239508 | - | C |
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:0) | |
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| (Waiting for update.) | |
FDA approved drug and dosage information(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |