eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| factor xii deficiency | ||||
| Disease ID | 435 |
|---|---|
| Disease | factor xii deficiency |
| Definition | An absence or reduced level of blood coagulation factor XII. It normally occurs in the absence of patient or family history of hemorrhagic disorders and is marked by prolonged clotting time. |
| Synonym | coagulation factor 12 deficiency defic factor xii deficiencies, factor 12 deficiencies, factor xii deficiency, factor 12 deficiency, factor xii deficiency, hageman deficiency, hageman factor f12 deficiency factor 12 deficiencies factor 12 deficiency factor deficiency, hageman factor xii defic factor xii deficiencies factor xii deficiency [disease/finding] factor xii deficiency disease factor xii deficiency disease (disorder) factor xii deficiency disease, nos haf deficiency hageman factor deficiency hageman trait reduced factor xii activity |
| OMIM | |
| DOID | |
| UMLS | C0015526 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:17) 2159 | F10 | 1.4 | DISEASES 2160 | F11 | 4.031 | DISEASES 2152 | F3 | 4.93 | DISEASES 2155 | F7 | 2.837 | DISEASES 2157 | F8 | 1.849 | DISEASES 2673 | GFPT1 | 1.624 | DISEASES 2811 | GP1BA | 1.39 | DISEASES 8518 | IKBKAP | 1.245 | DISEASES 9622 | KLK4 | 3.996 | DISEASES 64324 | NSD1 | 1.885 | DISEASES 80055 | PGAP1 | 3.812 | DISEASES 5328 | PLAU | 2.221 | DISEASES 23543 | RBFOX2 | 1.233 | DISEASES 5269 | SERPINB6 | 2.073 | DISEASES 462 | SERPINC1 | 2.226 | DISEASES 5345 | SERPINF2 | 1.918 | DISEASES 23038 | WDTC1 | 1.083 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 435 |
|---|---|
| Disease | factor xii deficiency |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:3) HP:0003645 | Delayed thromboplastin generation HP:0005542 | Prolonged whole-blood clotting time HP:0004841 | Factor XII deficiency |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 435 |
|---|---|
| Disease | factor xii deficiency |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs199988476 | NA | 2161 | F12 | umls:C0015526 | CLINVAR | NA | 0.568815624 | NA | F12;PFN3 | 5 | 177402460 | C | G,T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003645 | Prolonged partial thromboplastin time | MP:0012359 | increased partial thromboplastin time | increased amount of time it takes blood to clot after the addition of phospholipid, calcium, and an activator, e.g., silica, kaolin; measure of the quality of the intrinsic and common coagulation pathways |
| HP:0005542 | Prolonged whole-blood clotting time | MP:0005606 | increased bleeding time | greater than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function |
Mapped by homologous gene(Total Items:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0004841 | Reduced factor XII activity | MP:0013696 | increased granulocyte monocyte progenitor cell number | increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 |
| HP:0005542 | Prolonged whole-blood clotting time | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0003645 | Prolonged partial thromboplastin time | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| Disease ID | 435 |
|---|---|
| Disease | factor xii deficiency |
| Case | (Waiting for update.) |