eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| platelet storage pool deficiency | ||||
| Disease ID | 1635 |
|---|---|
| Disease | platelet storage pool deficiency |
| Definition | Disorder characterized by a decrease or lack of platelet dense bodies in which the releasable pool of adenine nucleotides and 5HT are normally stored. |
| Synonym | defic platelet storage pool defic storage pool deficiencies, storage pool deficiency, platelet storage pool deficiency, storage pool delta storage pool disease dense body defect dense body defect (disorder) dense body deficiency nucleotide storage pool disorder platelet dense granule deficiency platelet dense granule deficiency (disorder) platelet storage organelle defect platelet storage pool defect platelet storage pool defect (disorder) platelet storage pool defic platelet storage pool deficiencies platelet storage pool deficiency [disease/finding] platelet storage pool disease storage pool defic storage pool defic platelet storage pool deficiencies storage pool deficiency storage pool deficiency, platelet storage pool disease of platelets storage pool disease of platelets (disorder) storage pool platelet disease |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0032197 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:19) 3267 | AGFG1 | 3.245 | DISEASES 27237 | ARHGEF16 | 3.03 | DISEASES 2647 | BLOC1S1 | 4.199 | DISEASES 282991 | BLOC1S2 | 1.864 | DISEASES 388552 | BLOC1S3 | 3.836 | DISEASES 63915 | BLOC1S5 | 4.233 | DISEASES 84062 | DTNBP1 | 3.492 | DISEASES 1906 | EDN1 | 1.341 | DISEASES 8328 | GFI1B | 3.21 | DISEASES 2811 | GP1BA | 1.91 | DISEASES 89781 | HPS4 | 5.162 | DISEASES 3363 | HTR7 | 2.597 | DISEASES 1130 | LYST | 3.758 | DISEASES 10724 | MGEA5 | 1.179 | DISEASES 23218 | NBEAL2 | 4.05 | DISEASES 5873 | RAB27A | 2.54 | DISEASES 6441 | SFTPD | 2.868 | DISEASES 23557 | SNAPIN | 3.409 | DISEASES 23038 | WDTC1 | 3.601 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1635 |
|---|---|
| Disease | platelet storage pool deficiency |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:4) HP:0003010 | Increased bleeding time HP:0002488 | Acute leukemias HP:0005537 | Small platelet size HP:0002863 | Myelodysplastic syndrome |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1635 |
|---|---|
| Disease | platelet storage pool deficiency |
| Manually Symptom | (Waiting for update.) |
| 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:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002488 | Acute leukemia | MP:0005481 | increased chronic myelocytic leukemia incidence | higher than normal incidence of a heterogeneous group of myeloproliferative disorders that may evolve into acute leukemia in late stages |
| HP:0003010 | Prolonged bleeding 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:4) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003010 | Prolonged bleeding time | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0005537 | Decreased mean platelet volume | MP:0013693 | abnormal hemopoiesis | any anomaly in the process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure; the site of hemopoiesis is variable d |
| HP:0002488 | Acute leukemia | MP:0013886 | increased CD4-negative, CD25-positive NK T cell number | increase in the number of CD4-negative NK T cells expressing the activation marker CD25 |
| HP:0002863 | Myelodysplasia | 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 |
| Disease ID | 1635 |
|---|---|
| Disease | platelet storage pool deficiency |
| Case | (Waiting for update.) |