eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| aggressive systemic mastocytosis | ||||
| Disease ID | 1372 |
|---|---|
| Disease | aggressive systemic mastocytosis |
| Definition | A form of systemic mastocytosis in which patients have impaired organ functions due to multifocal infiltrates of pathological MAST CELLS in bone marrow, liver, spleen, gastrointestinal tract, or skeletal system. The cytomorphology shows a low to high grade. |
| Synonym | aggressive lymphadenopathic mastocytosis with eosinophilia aggressive lymphadenopathic mastocytosis with eosinophilia (disorder) aggressive systemic mastocytoses aggressive systemic mastocytosis (disorder) aggressive systemic mastocytosis (morphologic abnormality) lymphadenopathic mastocytosis with eosinophilia mastocytoses, aggressive systemic mastocytosis, aggressive systemic systemic mastocytoses, aggressive systemic mastocytosis, aggressive |
| Orphanet | |
| DOID | |
| UMLS | C1112486 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:33) 427 | ASAH1 | 2.429 | DISEASES 171023 | ASXL1 | 1.414 | DISEASES 1822 | ATN1 | 1.769 | DISEASES 538 | ATP7A | 3.039 | DISEASES 834 | CASP1 | 1.61 | DISEASES 841 | CASP8 | 1.697 | DISEASES 1003 | CDH5 | 1.072 | DISEASES 5169 | ENPP3 | 1.537 | DISEASES 7430 | EZR | 1.184 | DISEASES 81608 | FIP1L1 | 1.469 | DISEASES 1647 | GADD45A | 1.334 | DISEASES 2885 | GRB2 | 2.223 | DISEASES 283120 | H19 | 3.169 | DISEASES 3440 | IFNA2 | 1.55 | DISEASES 80333 | KCNIP4 | 2.931 | DISEASES 55646 | LYAR | 3.471 | DISEASES 150365 | MEI1 | 4.173 | DISEASES 4629 | MYH11 | 1.418 | DISEASES 114548 | NLRP3 | 1.623 | DISEASES 7827 | NPHS2 | 2.724 | DISEASES 5236 | PGM1 | 1.838 | DISEASES 51109 | RDH11 | 1.858 | DISEASES 253260 | RICTOR | 1.731 | DISEASES 6609 | SMPD1 | 5.078 | DISEASES 6625 | SNRNP70 | 2.238 | DISEASES 23626 | SPO11 | 3.059 | DISEASES 6427 | SRSF2 | 1.629 | DISEASES 54790 | TET2 | 1.919 | DISEASES 7075 | TIE1 | 2.012 | DISEASES 7204 | TRIO | 2.866 | DISEASES 10628 | TXNIP | 1.389 | DISEASES 7409 | VAV1 | 1.643 | DISEASES 7520 | XRCC5 | 1.491 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1372 |
|---|---|
| Disease | aggressive systemic mastocytosis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:40) HP:0100495 | Mastocytosis HP:0002094 | Dyspnea HP:0005558 | Chronic leukemia HP:0012378 | Fatigue HP:0100845 | Anaphylactic shock HP:0002653 | Bone pain HP:0002027 | Abdominal pain HP:0001824 | Weight loss HP:0000217 | Xerostomia HP:0002099 | Asthma HP:0002829 | Arthralgia HP:0002716 | Lymphadenopathy HP:0001882 | Leukopenia HP:0002014 | Diarrhea HP:0002113 | Pulmonary infiltrates HP:0002028 | Chronic diarrhea HP:0002017 | Nausea and vomiting HP:0002615 | Hypotension HP:0000739 | Anxiety HP:0001903 | Anemia HP:0002024 | Malabsorption HP:0001876 | Pancytopenia HP:0005547 | Myeloproliferative disorder HP:0000975 | Hyperhidrosis HP:0011001 | Increased bone mineral density HP:0002665 | Lymphoma HP:0011675 | Arrhythmia HP:0002757 | Recurrent fractures HP:0000939 | Osteoporosis HP:0100242 | Sarcoma HP:0002240 | Hepatomegaly HP:0001744 | Splenomegaly HP:0001394 | Cirrhosis HP:0005561 | Abnormality of bone marrow cell morphology HP:0002488 | Acute leukemia HP:0001695 | Cardiac arrest HP:0000716 | Depression HP:0000989 | Pruritus HP:0002039 | Anorexia HP:0001880 | Eosinophilia |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1372 |
|---|---|
| Disease | aggressive systemic mastocytosis |
| 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:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121913507 | 24989799 | 3815 | KIT | umls:C1112486 | BeFree | A transgenic zebrafish model expressing KIT-D816V recapitulates features of aggressive systemic mastocytosis. | 0.001085767 | 2014 | KIT | 4 | 54733155 | A | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:7) | ||||
|---|---|---|---|---|
| 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:0005561 | Abnormality of bone marrow cell morphology | MP:0013283 | failure of ventral body wall closure | failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h |
| HP:0002028 | Chronic diarrhea | MP:0005036 | diarrhea | abnormally frequent discharge of semi-solid or fluid fecal matter from the bowel |
| 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:0011001 | Increased bone mineral density | MP:0013630 | increased bone trabecular spacing | increase in the amount of space between trabeculae in cancellous bone |
| HP:0002757 | Recurrent fractures | MP:0004675 | rib fractures | a crack or break in the bones forming the bony wall of the chest |
| HP:0001824 | Weight loss | MP:0005114 | premature hair loss | release of fur at an earlier than expected time |
Mapped by homologous gene(Total Items:38) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001876 | Pancytopenia | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0002028 | Chronic diarrhea | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000739 | Anxiety | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002653 | Bone pain | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0011675 | Arrhythmia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002113 | Pulmonary infiltrates | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| 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:0002024 | Malabsorption | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001744 | Splenomegaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0002094 | Dyspnea | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0001880 | Eosinophilia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000939 | Osteoporosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0100495 | Mastocytosis | MP:0011967 | increased or absent threshold for auditory brainstem response | increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency o |
| 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:0001695 | Cardiac arrest | MP:0013578 | abnormal stomach glandular region morphology | any structural anomaly of the distinct glandular stomach area which in rodents is demarcated from the non-glandular forestomach by the limiting ridge (margo plicatus); the glandular stomach is connected to the small intestine (duodenum); the wall of the g |
| 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:0002039 | Anorexia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002757 | Recurrent fractures | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002099 | Asthma | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000975 | Hyperhidrosis | 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:0001824 | Weight loss | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001882 | Leukopenia | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0002829 | Arthralgia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002027 | Abdominal pain | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0011001 | Increased bone mineral density | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002665 | Lymphoma | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0100242 | Sarcoma | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| 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:0005561 | Abnormality of bone marrow cell morphology | MP:0014071 | increased cardiac muscle glycogen level | greater than the normal concentration of a readily converted carbohydrate reserve in heart muscle |
| HP:0001394 | Cirrhosis | MP:0020134 | abnormal gallbladder size | an anomaly in the size of the gall bladder compared to average, the organ that serves as a storage reservoir for bile |
| HP:0002615 | Hypotension | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0000716 | Depression | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000989 | Pruritus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002716 | Lymphadenopathy | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0005547 | Myeloproliferative disorder | 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 | 1372 |
|---|---|
| Disease | aggressive systemic mastocytosis |
| Case | (Waiting for update.) |