eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| felty syndrome | ||||
| Disease ID | 484 |
|---|---|
| Disease | felty syndrome |
| Definition | A syndrome characterized by the presence of rheumatoid arthritis, splenomegaly, and granulocytopenia. Patients are at an increased risk of infection because of the low white cell counts. |
| Synonym | felty syndrome [disease/finding] felty's syndrome felty's syndrome (disorder) feltys syndrome rheumatoid arthritis with splenoadenomegaly and leukopenia rheumatoid arthritis, leucopenia and splenomegaly rheumatoid arthritis, leukopenia and splenadenomegaly rheumatoid arthritis, leukopenia and splenomegaly syndrome, felty syndrome, felty's |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0015773 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:6) C0027947 | neutropenia | 2 C0003864 | arthritis | 2 C0023418 | leukemia | 2 C0003873 | rheumatoid arthritis | 1 C0038013 | ankylosing spondylitis | 1 C0038012 | spondylitis | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:24) 567 | B2M | 1.398 | DISEASES 720 | C4A | 3.585 | DISEASES 721 | C4B | 3.936 | DISEASES 57126 | CD177 | 1.518 | DISEASES 914 | CD2 | 1.355 | DISEASES 959 | CD40LG | 3.073 | DISEASES 1810 | DR1 | 1.973 | DISEASES 1915 | EEF1A1 | 1.799 | DISEASES 2035 | EPB41 | 1.561 | DISEASES 2149 | F2R | 1.372 | DISEASES 2187 | FANCB | 2.205 | DISEASES 2214 | FCGR3A | 2.953 | DISEASES 3005 | H1F0 | 1.301 | DISEASES 8337 | HIST2H2AA3 | 1.188 | DISEASES 8338 | HIST2H2AC | 1.188 | DISEASES 3119 | HLA-DQB1 | 1.919 | DISEASES 3120 | HLA-DQB2 | 1.075 | DISEASES 3123 | HLA-DRB1 | 1.991 | DISEASES 84441 | MAML2 | 1.904 | DISEASES 23569 | PADI4 | 2.376 | DISEASES 6014 | RIT2 | 1.308 | DISEASES 6050 | RNH1 | 1.712 | DISEASES 7133 | TNFRSF1B | 1.365 | DISEASES 8718 | TNFRSF25 | 1.234 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 484 |
|---|---|
| Disease | felty syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:37) HP:0000246 | Sinusitis HP:0004332 | Abnormality of lymphocytes HP:0002960 | Autoimmunity HP:0001482 | Subcutaneous nodule HP:0001824 | Weight loss HP:0012384 | Rhinitis HP:0006532 | Recurrent pneumonia HP:0001376 | Limitation of joint mobility HP:0100806 | Sepsis HP:0000010 | Recurrent urinary tract infections HP:0002797 | Osteolysis HP:0002205 | Recurrent respiratory infections HP:0002829 | Arthralgia HP:0002102 | Pleuritis HP:0002716 | Lymphadenopathy HP:0005528 | Bone marrow hypocellularity HP:0001873 | Thrombocytopenia HP:0002206 | Pulmonary fibrosis HP:0009830 | Peripheral neuropathy HP:0100769 | Synovitis HP:0100534 | Episcleritis HP:0100776 | Recurrent pharyngitis HP:0002719 | Recurrent infections HP:0001903 | Anemia HP:0002665 | Lymphoma HP:0007400 | Irregular hyperpigmentation HP:0001367 | Abnormal joint morphology HP:0000389 | Chronic otitis media HP:0001875 | Neutropenia HP:0002240 | Hepatomegaly HP:0001370 | Rheumatoid arthritis HP:0001701 | Pericarditis HP:0001744 | Splenomegaly HP:0100658 | Cellulitis HP:0002721 | Immunodeficiency HP:0001369 | Arthritis HP:0007440 | Generalized hyperpigmentation |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:7) HP:0001744 | Splenomegaly | 2 HP:0001875 | Neutropenia | 2 HP:0001909 | Leukemia | 2 HP:0001369 | Arthritis | 2 HP:0001904 | Autoimmune neutropenia | 1 HP:0200042 | Skin ulcer | 1 HP:0001370 | Rheumatoid arthritis | 1 |
| Disease ID | 484 |
|---|---|
| Disease | felty syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
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:10) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001376 | Limitation of joint mobility | MP:0010732 | abnormal node of Ranvier morphology | any structural anomaly of the short unmyelinated segments of an axon between myelinated segments, where voltage gated channels accumulate and regenerate an action potential as it is conducted along the axon |
| HP:0000389 | Chronic otitis media | MP:0001850 | increased susceptibility to otitis media | greater likelihood of middle ear inflammation, with an accumulation of a thick, mucous-like fluid; usually associated with a viral or bacterial respiratory infection |
| HP:0006532 | Recurrent pneumonia | MP:0001862 | interstitial pneumonia | any of a group of inflammatory and fibrotic disorders of the lower respiratory tract, primarily affecting the supporting framework of the lung, including the alveolar wall, but may also involve the small airways and blood vessels of the lung parenchyma |
| HP:0001824 | Weight loss | MP:0005114 | premature hair loss | release of fur at an earlier than expected time |
| HP:0002206 | Pulmonary fibrosis | MP:0009419 | skeletal muscle fibrosis | formation of fibrous tissue within skeletal muscle as a result of repair or a reactive process |
| HP:0007440 | Generalized hyperpigmentation | MP:0001188 | hyperpigmentation | excess of pigment in any or all tissues or a part of a tissue |
| HP:0000010 | Recurrent urinary tract infections | MP:0014044 | absent cardiac outflow tract | absence of or complete failure to form the common arterial trunk that normally forms the aorta and pulmonary artery and the ventricular outflow regions |
| 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:0001367 | Abnormal joint morphology | MP:0002932 | abnormal joint morphology | any structural anomaly of the moveable articulation point of two or more bones |
| HP:0005528 | Bone marrow hypocellularity | MP:0013414 | decreased myeloid cell number in bone marrow | reduction in the number of CD45+ CD11b+ GR1- myeloid cells in the bone marrow |
Mapped by homologous gene(Total Items:36) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001367 | Abnormal joint morphology | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001369 | Arthritis | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| 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:0009830 | Peripheral neuropathy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100534 | Episcleritis | MP:0011080 | increased macrophage apoptosis | greater incidence of cell death in macrophages |
| HP:0002206 | Pulmonary fibrosis | MP:0014233 | bile duct epithelium hyperplasia | |
| HP:0100769 | Synovitis | 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:0001482 | Subcutaneous nodule | MP:0013542 | abnormal submandibular gland branching morphogenesis | |
| HP:0001376 | Limitation of joint mobility | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001370 | Rheumatoid arthritis | MP:0011882 | enlarged duodenum | increased size of the portion of the small intestine that extends from the pyloris to the junction with the jejunum |
| 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:0001744 | Splenomegaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002797 | Osteolysis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002721 | Immunodeficiency | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002960 | Autoimmunity | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001701 | Pericarditis | MP:0011405 | tubulointerstitial nephritis | diffuse or local inflammation and edema of the interstitial tissue of the kidney, including the renal tubules; usually secondary to drug sensitization, systemic infection, graft rejection, or autoimmune disease |
| HP:0001873 | Thrombocytopenia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0006532 | Recurrent pneumonia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0100806 | Sepsis | MP:0011708 | decreased fibroblast cell migration | reduced frequency of or less rapid fibroblast cell migration that is accomplished by extension and retraction of a fibroblast pseudopodium |
| HP:0001824 | Weight loss | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002829 | Arthralgia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0007400 | Irregular hyperpigmentation | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0002102 | Pleuritis | MP:0011405 | tubulointerstitial nephritis | diffuse or local inflammation and edema of the interstitial tissue of the kidney, including the renal tubules; usually secondary to drug sensitization, systemic infection, graft rejection, or autoimmune disease |
| HP:0000246 | Sinusitis | MP:0020186 | altered susceptibility to bacterial infection | a change in the likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria |
| HP:0002665 | Lymphoma | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001875 | Neutropenia | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0100658 | Cellulitis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0007440 | Generalized hyperpigmentation | MP:0014167 | ectopic bone | the appearance of an extra bone structure at an atypical location |
| HP:0002719 | Recurrent infections | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0000389 | Chronic otitis media | 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:0000010 | Recurrent urinary tract infections | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0100776 | Recurrent pharyngitis | MP:0013716 | hypolactation | partial failure, or reduced ability to produce or secrete milk from the mammary gland |
| HP:0002716 | Lymphadenopathy | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0005528 | Bone marrow hypocellularity | MP:0014040 | increased cellular sensitivity to DNA damaging agents | greater incidence of cell death following exposure to agents that cause DNA damage |
| HP:0012384 | Rhinitis | 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 |
| Disease ID | 484 |
|---|---|
| Disease | felty syndrome |
| Case | (Waiting for update.) |