eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| cyclic neutropenia | ||||
| Disease ID | 56 |
|---|---|
| Disease | cyclic neutropenia |
| Definition | A chronic condition that affects neutrophils (a type of white blood cell). In cyclic neutropenia, the number of neutrophils in the blood goes in cycles from normal to low and back to normal again. Symptoms include fever, inflamed mucous membranes in the mouth, and infections. |
| Synonym | agranulocytosis, cyclic cyclic agranulocytosis cyclic haematopoiesis cyclic hematopoiesis cyclic neutropenia (disorder) cyclical neutropaenia cyclical neutropenia cyclical neutropenia (disorder) dysplasia, myelocytic periodic leukopenia, cyclic neutropenia cyclic neutropenia periodic neutropenia, cyclic periodic neutropenia |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0221023 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:7) C0034212 | pyoderma | 1 C0085652 | pyoderma gangrenosum | 1 C0031099 | periodontitis | 1 C0002726 | amyloidosis | 1 C0042164 | uveitis | 1 C0878544 | cardiomyopathy | 1 C0007193 | dilated cardiomyopathy | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:6) |
| Locus | Symbol | Locus(Total Locus:1) ELANE | 19p13.3 |
| Disease ID | 56 |
|---|---|
| Disease | cyclic neutropenia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:17) HP:0000670 | Carious teeth HP:0002716 | Lymphadenopathy HP:0011107 | Recurrent aphthous stomatitis HP:0000153 | Abnormal mouth HP:0001873 | Thrombocytopenia HP:0012378 | Fatigue HP:0000704 | Periodontitis HP:0001845 | Overlapping toe HP:0001903 | Anemia HP:0000155 | Oral ulcer HP:0002027 | Abdominal pain HP:0001945 | Fever HP:0001875 | Neutropenia HP:0100806 | Sepsis HP:0001879 | Abnormality of eosinophils HP:0001581 | Recurrent skin infections HP:0002205 | Recurrent respiratory infections |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:9) HP:0000704 | Pyorrhea | 1 HP:0000999 | Pyoderma | 1 HP:0001638 | Cardiomyopathy | 1 HP:0000166 | Severe periodontal disease | 1 HP:0011034 | Amyloid disease | 1 HP:0002205 | Frequent respiratory infections | 1 HP:0001644 | Congestive cardiomyopathy | 1 HP:0011947 | Respiratory infection | 1 HP:0000554 | Uveitis | 1 |
| Disease ID | 56 |
|---|---|
| Disease | cyclic neutropenia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:10) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:7) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs137854445 | NA | 1991 | ELANE | umls:C0221023 | CLINVAR | NA | 0.484614512 | NA | ELANE | 19 | 856019 | G | A,C |
| rs137854446 | NA | 1991 | ELANE | umls:C0221023 | CLINVAR | NA | 0.484614512 | NA | ELANE | 19 | 855978 | G | T |
| rs137854447 | NA | 1991 | ELANE | umls:C0221023 | CLINVAR | NA | 0.484614512 | NA | ELANE | 19 | 852990 | C | A,G,T |
| rs137854450 | 11001877 | 1991 | ELANE | umls:C0221023 | UNIPROT | Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. | 0.484614512 | 2000 | ELANE | 19 | 855574 | C | T |
| rs28929493 | 11001877 | 1991 | ELANE | umls:C0221023 | UNIPROT | Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. | 0.484614512 | 2000 | NA | NA | NA | NA | NA |
| rs730880095 | NA | 1991 | ELANE | umls:C0221023 | CLINVAR | NA | 0.484614512 | NA | ELANE | 19 | 855955 | C | G |
| rs797045007 | NA | 1991 | ELANE | umls:C0221023 | CLINVAR | NA | 0.484614512 | NA | ELANE | 19 | 852380 | G | C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:5) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001581 | Recurrent skin infections | MP:0009932 | skin fibrosis | invasion of fibrous connective tissue into the skin, often resulting from inflammation or injury |
| HP:0001879 | Abnormality of eosinophils | MP:0012167 | abnormal epigenetic regulation of gene expression | any anomaly in the process that modulates the frequency, rate or extent of gene expression, in which the process is mitotically or meiotically heritable, or is stably self-propagated in the cytoplasm of a resting cell, and does not entail a change in DNA |
| HP:0000670 | Carious teeth | MP:0004033 | supernumerary teeth | occurrence of more than the usual number of teeth |
| HP:0002205 | Recurrent respiratory infections | MP:0014182 | decreased respiratory epithelial sodium ion transmembrane transport | decrease in the directed movement of sodium ions from one side of the respiratory epithelial cell membrane to the other |
| HP:0000153 | Abnormality of the mouth | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
Mapped by homologous gene(Total Items:17) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0100806 | Sepsis | MP:0011708 | decreased fibroblast cell migration | reduced frequency of or less rapid fibroblast cell migration that is accomplished by extension and retraction of a fibroblast pseudopodium |
| HP:0011107 | Recurrent aphthous stomatitis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001945 | Fever | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000155 | Oral ulcer | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000153 | Abnormality of the mouth | 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:0001845 | Overlapping toe | MP:0013603 | abnormal fetal Leydig cell differentiation | atypical formation of or inability to produce the first or fetal population of Leydig cells (FLCs); in mice, FLCs arise in the testicular interstitium between E12.5 and E13.0, approximately 1 day after the appearance of Sertoli cells; Sertoli cells trigge |
| HP:0001903 | Anemia | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002027 | Abdominal pain | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001581 | Recurrent skin infections | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001875 | Neutropenia | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0002716 | Lymphadenopathy | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0000704 | Periodontitis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001879 | Abnormality of eosinophils | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002205 | Recurrent respiratory infections | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001873 | Thrombocytopenia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000670 | Carious teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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 |
| Disease ID | 56 |
|---|---|
| Disease | cyclic neutropenia |
| Case | (Waiting for update.) |