eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| botulism | ||||
| Disease ID | 1553 |
|---|---|
| Disease | botulism |
| Definition | A disease caused by potent protein NEUROTOXINS produced by CLOSTRIDIUM BOTULINUM which interfere with the presynaptic release of ACETYLCHOLINE at the NEUROMUSCULAR JUNCTION. Clinical features include abdominal pain, vomiting, acute PARALYSIS (including respiratory paralysis), blurred vision, and DIPLOPIA. Botulism may be classified into several subtypes (e.g., food-borne, infant, wound, and others). (From Adams et al., Principles of Neurology, 6th ed, p1208) |
| Synonym | botulism (disorder) botulism [disease/finding] botulism nos botulism toxico infect botulism, toxico infectious botulism, toxico-infectious botulisms infection caused by clostridium botulinum infection caused by clostridium botulinum (disorder) infection due to clostridium botulinum infection due to clostridium botulinum (disorder) intoxication with clostridium botulinum toxin intoxication with clostridium botulinum toxin (disorder) toxico infect botulism toxico infectious botulism toxico-infectious botulism |
| Orphanet | |
| DOID | |
| UMLS | C0006057 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:5) C0027868 | neuromuscular diseases | 1 C0010678 | cysticercosis | 1 C0027868 | neuromuscular disease | 1 C0026848 | muscular diseases | 1 C0029089 | ophthalmoplegia | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:49) 262 | AMD1 | 1.419 | DISEASES 682 | BSG | 1.804 | DISEASES 10438 | C1D | 3.252 | DISEASES 55118 | CRTAC1 | 3.673 | DISEASES 1621 | DBH | 2.391 | DISEASES 51428 | DDX41 | 2.92 | DISEASES 1660 | DHX9 | 1.746 | DISEASES 1798 | DPAGT1 | 4.664 | DISEASES 83658 | DYNLRB1 | 2.23 | DISEASES 5169 | ENPP3 | 1.423 | DISEASES 26190 | FBXW2 | 3.039 | DISEASES 5348 | FXYD1 | 1.737 | DISEASES 2571 | GAD1 | 1.107 | DISEASES 2813 | GP2 | 3.246 | DISEASES 10223 | GPA33 | 3.755 | DISEASES 2900 | GRIK4 | 2.274 | DISEASES 102723508 | KANTR | 2.103 | DISEASES 126364 | LRRC25 | 3.069 | DISEASES 378938 | MALAT1 | 1.256 | DISEASES 25821 | MTO1 | 3.426 | DISEASES 4593 | MUSK | 2.11 | DISEASES 7080 | NKX2-1 | 1.63 | DISEASES 54475 | NLE1 | 1.768 | DISEASES 246734 | NPCDR1 | 1.657 | DISEASES 4905 | NSF | 5.606 | DISEASES 5077 | PAX3 | 2.089 | DISEASES 5078 | PAX4 | 1.791 | DISEASES 5251 | PHEX | 1.587 | DISEASES 56980 | PRDM10 | 2.105 | DISEASES 51150 | SDF4 | 1.607 | DISEASES 327657 | SERPINA9 | 2.578 | DISEASES 788 | SLC25A20 | 2.08 | DISEASES 6520 | SLC3A2 | 2.408 | DISEASES 8671 | SLC4A4 | 1.639 | DISEASES 9498 | SLC4A8 | 1.967 | DISEASES 4093 | SMAD9 | 2.635 | DISEASES 6812 | STXBP1 | 1.94 | DISEASES 25870 | SUMF2 | 1.451 | DISEASES 9900 | SV2A | 4.225 | DISEASES 9899 | SV2B | 3.086 | DISEASES 22987 | SV2C | 5.199 | DISEASES 127833 | SYT2 | 6.2 | DISEASES 10732 | TCFL5 | 2.74 | DISEASES 51592 | TRIM33 | 1.192 | DISEASES 7247 | TSN | 3.853 | DISEASES 7295 | TXN | 1.8 | DISEASES 6843 | VAMP1 | 4.251 | DISEASES 9218 | VAPA | 5.79 | DISEASES 7454 | WAS | 1.06 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1553 |
|---|---|
| Disease | botulism |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:18) HP:0010547 | Muscle flaccidity HP:0002093 | Respiratory insufficiency HP:0011499 | Mydriasis HP:0000016 | Urinary retention HP:0012378 | Fatigue HP:0002015 | Dysphagia HP:0002014 | Diarrhea HP:0011675 | Arrhythmia HP:0100021 | Cerebral palsy HP:0002019 | Constipation HP:0002027 | Abdominal pain HP:0002017 | Nausea and vomiting HP:0006597 | Diaphragmatic paralysis HP:0006824 | Cranial nerve paralysis HP:0009113 | Diaphragmatic weakness HP:0000651 | Diplopia HP:0000217 | Xerostomia HP:0001260 | Dysarthria |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:7) HP:0003470 | Inability to move | 3 HP:0002015 | Swallowing difficulty | 2 HP:0012531 | Pain | 1 HP:0003324 | Muscle weakness, diffuse | 1 HP:0002380 | Muscle twitch | 1 HP:0001945 | Fever | 1 HP:0000602 | Ophthalmoplegia | 1 |
| Disease ID | 1553 |
|---|---|
| Disease | botulism |
| 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.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
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| (Waiting for update.) | |
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:0002017 | Nausea and vomiting | MP:0010426 | abnormal heart and great artery attachment | any anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta |
| 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 |
| HP:0006597 | Diaphragmatic paralysis | MP:0000755 | hindlimb paralysis | loss of power of voluntary movement in the muscles of the hindlimb through injury or disease of it or its nerve supply |
Mapped by homologous gene(Total Items:17) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000217 | Xerostomia | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0000651 | Diplopia | 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:0002093 | Respiratory insufficiency | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0100021 | Cerebral palsy | MP:0013026 | decreased Ly6C low monocyte number | decrease in the number of monocytes that express low levels of Ly6C and low MHC class II that represent a subset of patrolling monocytes |
| HP:0011675 | Arrhythmia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002027 | Abdominal pain | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0009113 | Diaphragmatic weakness | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0002015 | Dysphagia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002019 | Constipation | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0011499 | Mydriasis | MP:0009862 | abnormal aorta elastic tissue morphology | any structural anomaly of the dense connective tissue which contains predominantly elastic fibers and is found in the aorta wall |
| HP:0006597 | Diaphragmatic paralysis | MP:0014074 | increased brain glycogen level | greater than the normal concentration of a readily converted carbohydrate reserve in brain |
| HP:0002014 | Diarrhea | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002017 | Nausea and vomiting | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001260 | Dysarthria | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0012378 | Fatigue | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0000016 | Urinary retention | 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:0006824 | Cranial nerve paralysis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 1553 |
|---|---|
| Disease | botulism |
| Case | (Waiting for update.) |