eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| paroxysmal cold hemoglobinuria | ||||
| Disease ID | 1851 |
|---|---|
| Disease | paroxysmal cold hemoglobinuria |
| Definition | Paroxysmal cold hemoglobinuria (PCH) (also known as Donath-Landsteiner syndrome) is a disease of humans that is characterized by the sudden presence of hemoglobin in the urine (called hemoglobinuria), typically after exposure to cold temperatures. - NORD Reference: NORD |
| Synonym | cold agglutinin haemoglobinuria cold agglutinin hemoglobinuria cold donath landsteiner type autoimmune haemolytic anaemia cold donath landsteiner type autoimmune haemolytic anaemia (disorder) cold donath landsteiner type autoimmune hemolytic anemia cold haemoglobinuria cold hemoglobinuria cold paroxysmal hemoglobinuria hemoglobinuria, cold paroxysmal hemoglobinuria, paroxysmal cold paroxysmal cold haemoglobinuria paroxysmal cold hemoglobinuria (disorder) paroxysmal hemoglobinuria, cold pch - paroxysmal cold haemoglobinuria pch - paroxysmal cold hemoglobinuria |
| Orphanet | |
| UMLS | C0086774 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1851 |
|---|---|
| Disease | paroxysmal cold hemoglobinuria |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:11) HP:0002829 | Arthralgia HP:0003418 | Back pain HP:0003641 | Hemoglobinuria HP:0012086 | Abnormal urinary color HP:0002014 | Diarrhea HP:0004844 | Coombs-positive hemolytic anemia HP:0001890 | Autoimmune hemolytic anemia HP:0002017 | Nausea and vomiting HP:0001945 | Fever HP:0002315 | Headache HP:0002205 | Recurrent respiratory infections |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1851 |
|---|---|
| Disease | paroxysmal cold hemoglobinuria |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:3) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
|---|---|
| (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:4) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| 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: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:0001890 | Autoimmune hemolytic anemia | MP:0001577 | anemia | less than normal levels of red blood cells and/or hemoglobin within red blood cells, or volume of packed red blood cells in the bloodstream, resulting in insufficient oxygenation of tissues and organs |
| HP:0004844 | Coombs-positive hemolytic anemia | MP:0001577 | anemia | less than normal levels of red blood cells and/or hemoglobin within red blood cells, or volume of packed red blood cells in the bloodstream, resulting in insufficient oxygenation of tissues and organs |
Mapped by homologous gene(Total Items:9) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001945 | Fever | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0004844 | Coombs-positive hemolytic anemia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002829 | Arthralgia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002315 | Headache | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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: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:0001890 | Autoimmune hemolytic anemia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0003418 | Back pain | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 1851 |
|---|---|
| Disease | paroxysmal cold hemoglobinuria |
| Case | (Waiting for update.) |