eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| mast cell sarcoma | ||||
| Disease ID | 579 |
|---|---|
| Disease | mast cell sarcoma |
| Definition | A unifocal malignant tumor that consists of atypical pathological MAST CELLS without systemic involvement. It causes local destructive growth in organs other than in skin or bone marrow. |
| Synonym | malignant mast cell neoplasm malignant mast cell neoplasm (morphologic abnormality) malignant mast cell tumor malignant mast cell tumor (clinical) malignant mast cell tumor (disorder) malignant mast cell tumor nos malignant mast cell tumor nos (disorder) malignant mast cell tumors malignant mast cell tumors (disorder) malignant mast cell tumour malignant mast cell tumour (clinical) malignant mast cell tumour nos malignant mast cell tumours malignant mastocytoma malignant mastocytomas mast cell malignancy of unspecified site mast cell malignancy of unspecified site (disorder) mast cell sarcoma (morphologic abnormality) mast-cell sarcoma mast-cell sarcoma [disease/finding] mast-cell sarcomas mastocytoma, malignant mastocytomas, malignant mcs sarcoma, mast cell sarcoma, mast-cell sarcomas, mast-cell |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0036221 |
| MeSH | |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:10) 25 | ABL1 | 1.109 | DISEASES 728 | C5AR1 | 2.565 | DISEASES 914 | CD2 | 2.967 | DISEASES 1438 | CSF2RA | 3.017 | DISEASES 7852 | CXCR4 | 1.226 | DISEASES 2209 | FCGR1A | 2.115 | DISEASES 81608 | FIP1L1 | 3.372 | DISEASES 3440 | IFNA2 | 1.449 | DISEASES 10724 | MGEA5 | 1.612 | DISEASES 5788 | PTPRC | 1.957 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 579 |
|---|---|
| Disease | mast cell sarcoma |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:9) HP:0002716 | Lymphadenopathy HP:0001744 | Splenomegaly HP:0012378 | Fatigue HP:0100720 | Hypoplasia of the ear cartilage HP:0100721 | Mediastinal lymphadenopathy HP:0100242 | Sarcoma HP:0001824 | Weight loss HP:0002240 | Hepatomegaly HP:0100495 | Mastocytosis |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 579 |
|---|---|
| Disease | mast cell sarcoma |
| 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:0001824 | Weight loss | MP:0005114 | premature hair loss | release of fur at an earlier than expected time |
| HP:0100720 | Hypoplasia of the ear cartilage | 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 |
Mapped by homologous gene(Total Items:9) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001824 | Weight loss | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0100721 | Mediastinal lymphadenopathy | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0002716 | Lymphadenopathy | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| 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:0100242 | Sarcoma | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0100720 | Hypoplasia of the ear cartilage | MP:0013767 | decreased palatal rugae number | reduced number of transverse folds (ridges) of the mucosa located on the anterior third part of the secondary (hard) palate of most mammalian species |
| HP:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| 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:0001744 | Splenomegaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| Disease ID | 579 |
|---|---|
| Disease | mast cell sarcoma |
| Case | (Waiting for update.) |