eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| hereditary neuropathy with liability to pressure palsies | ||||
| Disease ID | 1012 |
|---|---|
| Disease | hereditary neuropathy with liability to pressure palsies |
| Synonym | familial pressure sensitive neuropathy hereditary liability to pressure palsies hereditary liability to pressure palsies (disorder) hereditary neuropathy with liability to pressure palsy hereditary pressure sensitive neuropathy hnpp inherited tendency to pressure palsies neuropathy, hereditary, with liability to pressure palsies polyneuropathy, familial recurrent tomaculous neuropathy |
| Orphanet | |
| OMIM | |
| UMLS | C0393814 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:38) 55811 | ADCY10 | 3.289 | DISEASES 55256 | ADI1 | 1.931 | DISEASES 9639 | ARHGEF10 | 2.198 | DISEASES 54829 | ASPN | 1.678 | DISEASES 4287 | ATXN3 | 1.754 | DISEASES 6314 | ATXN7 | 1.267 | DISEASES 26580 | BSCL2 | 1.374 | DISEASES 820 | CAMP | 1.573 | DISEASES 959 | CD40LG | 1.037 | DISEASES 374286 | CDRT1 | 4.074 | DISEASES 146822 | CDRT15 | 4.619 | DISEASES 1267 | CNP | 2.16 | DISEASES 1270 | CNTF | 1.084 | DISEASES 10522 | DEAF1 | 2.689 | DISEASES 5167 | ENPP1 | 1.259 | DISEASES 10211 | FLOT1 | 1.996 | DISEASES 2705 | GJB1 | 6.313 | DISEASES 9953 | HS3ST3B1 | 3.251 | DISEASES 3339 | HSPG2 | 1.72 | DISEASES 83700 | JAM3 | 2.213 | DISEASES 81033 | KCNH6 | 2.716 | DISEASES 11202 | KLK8 | 1.734 | DISEASES 3908 | LAMA2 | 1.293 | DISEASES 9516 | LITAF | 3.615 | DISEASES 4099 | MAG | 3.163 | DISEASES 4155 | MBP | 1.544 | DISEASES 4359 | MPZ | 6.226 | DISEASES 4534 | MTM1 | 1.452 | DISEASES 8898 | MTMR2 | 3.587 | DISEASES 3084 | NRG1 | 1.797 | DISEASES 100169750 | PRINS | 2.41 | DISEASES 6007 | RHD | 1.272 | DISEASES 6133 | RPL9 | 3.282 | DISEASES 79628 | SH3TC2 | 3.279 | DISEASES 6663 | SOX10 | 1.036 | DISEASES 6672 | SP100 | 1.503 | DISEASES 64518 | TEKT3 | 4.746 | DISEASES 7106 | TSPAN4 | 3.037 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) PMP22 | 17p12 |
| Disease ID | 1012 |
|---|---|
| Disease | hereditary neuropathy with liability to pressure palsies |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:14) HP:0003401 | Paresthesia HP:0003431 | Decreased motor nerve conduction velocities HP:0002093 | Respiratory insufficiency HP:0003481 | Segmental peripheral demyelination/remyelination HP:0001265 | Decreased tendon reflexes HP:0001608 | Abnormality of the voice HP:0001605 | Vocal cord paralysis HP:0002650 | Scoliosis HP:0009830 | Peripheral neuropathy HP:0001324 | Muscular weakness HP:0003431 | Decreased motor nerve conduction velocity HP:0001265 | Hyporeflexia HP:0006824 | Cranial nerve paralysis HP:0001761 | Pes cavus |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1012 |
|---|---|
| Disease | hereditary neuropathy with liability to pressure palsies |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:2) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| 17p12 | - | doi:10.1038/gim.2015.51 | Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability |
| PMP22 | - | doi:10.1038/gim.2015.51 | Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:14) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003431 | Decreased motor nerve conduction velocity | MP:0008814 | decreased nerve conduction velocity | decrease in the rate at which an electrical impulse travels through a nerve |
| HP:0001608 | Abnormality of the voice | MP:0013283 | failure of ventral body wall closure | failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h |
| HP:0001605 | Vocal cord paralysis | MP:0000756 | forelimb paralysis | loss of power of voluntary movement in muscles of the forelimb through injury or disease of it or its nerve supply |
| HP:0003481 | Segmental peripheral demyelination/remyelination | MP:0000958 | peripheral nervous system degeneration | a retrogressive impairment of function or destruction of the ganglia and peripheral nerves that lie outside the brain and spinal cord |
| HP:0001324 | Muscle weakness | MP:0000746 | weakness | state of being infirm or less strong than normal |
| HP:0006824 | Cranial nerve paralysis | MP:0006303 | abnormal retinal nerve fiber layer morphology | any structural anomaly of the layer of the retina formed by expansion of the fibers of the optic nerve |
Mapped by homologous gene(Total Items:12) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002093 | Respiratory insufficiency | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001761 | Pes cavus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001265 | Hyporeflexia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0003431 | Decreased motor nerve conduction velocity | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001608 | Abnormality of the voice | 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:0009830 | Peripheral neuropathy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003401 | Paresthesia | 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:0001605 | Vocal cord paralysis | 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:0003481 | Segmental peripheral demyelination/remyelination | MP:0014062 | nervous system inclusion bodies | nuclear or cytoplasmic aggregates of stainable substances within cells of the nervous system |
| 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:0006824 | Cranial nerve paralysis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 1012 |
|---|---|
| Disease | hereditary neuropathy with liability to pressure palsies |
| Case | (Waiting for update.) |