eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| whipple disease | ||||
| Disease ID | 369 |
|---|---|
| Disease | whipple disease |
| Definition | A systemic infection caused by the Gram-positive bacterium Tropheryma whipplei. It affects the small intestine resulting in malabsorption. Other sites or systems affected by the infection are the joints, central nervous system, and the cardiovascular system. |
| Synonym | disease whipple disease whipple's disease, whipple disease, whipple's granulomatosis, lipophagic, intestinal intestinal lipodystrophy intestinal whipple's disease lipodystrophy, intestinal sprue, nontropical, secondary wd - whipple's disease whipple dis whipple disease [disease/finding] whipple's disease whipple's disease (disorder) whipples dis whipples disease |
| Orphanet | |
| DOID | |
| ICD10 | |
| UMLS | C0023788 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:18) C0020538 | hypertension | 2 C0020542 | pulmonary hypertension | 2 C0002726 | amyloidosis | 1 C0152025 | polyneuropathy | 1 C0392549 | infantile cerebral palsy | 1 C0008526 | choroiditis | 1 C0235270 | keratopathy | 1 C0040034 | thrombocytopenia | 1 C0031117 | peripheral neuropathy | 1 C0155686 | acute myocarditis | 1 C0007789 | cerebral palsy | 1 C0442874 | neuropathy | 1 C0014868 | esophagitis | 1 C0030343 | panuveitis | 1 C0239295 | candida esophagitis | 1 C0549423 | obstructive hydrocephalus | 1 C0020255 | hydrocephalus | 1 C0497327 | dementia | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:22) 959 | CD40LG | 1.818 | DISEASES 965 | CD58 | 2.329 | DISEASES 9308 | CD83 | 1.08 | DISEASES 9075 | CLDN2 | 1.851 | DISEASES 1365 | CLDN3 | 1.695 | DISEASES 10938 | EHD1 | 1.831 | DISEASES 3329 | HSPD1 | 2.437 | DISEASES 3612 | IMPA1 | 2.717 | DISEASES 51477 | ISYNA1 | 3.293 | DISEASES 3684 | ITGAM | 1.179 | DISEASES 3916 | LAMP1 | 2.187 | DISEASES 153562 | MARVELD2 | 2.711 | DISEASES 10215 | OLIG2 | 1.616 | DISEASES 11331 | PHB2 | 1.083 | DISEASES 10687 | PNMA2 | 1.701 | DISEASES 5265 | SERPINA1 | 2.401 | DISEASES 23583 | SMUG1 | 1.033 | DISEASES 51429 | SNX9 | 2.755 | DISEASES 8651 | SOCS1 | 1.023 | DISEASES 7124 | TNF | 2.291 | DISEASES 7133 | TNFRSF1B | 2.23 | DISEASES 706 | TSPO | 2.224 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 369 |
|---|---|
| Disease | whipple disease |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:47) HP:0000520 | Proptosis HP:0002239 | Gastrointestinal hemorrhage HP:0001336 | Myoclonus HP:0100639 | Erectile abnormalities HP:0012378 | Fatigue HP:0007256 | Abnormal pyramidal signs HP:0002027 | Abdominal pain HP:0002376 | Developmental regression HP:0002383 | Encephalitis HP:0002829 | Arthralgia HP:0002102 | Pleuritis HP:0003326 | Myalgia HP:0001251 | Ataxia HP:0100721 | Mediastinal lymphadenopathy HP:0000855 | Insulin resistance HP:0002014 | Diarrhea HP:0002902 | Hyponatremia HP:0009830 | Peripheral neuropathy HP:0002615 | Hypotension HP:0002516 | Increased intracranial pressure HP:0001903 | Anemia HP:0002024 | Malabsorption HP:0001250 | Seizures HP:0010741 | Edema of the lower limbs HP:0100829 | Galactorrhea HP:0000554 | Uveitis HP:0001658 | Myocardial infarction HP:0002093 | Respiratory insufficiency HP:0001945 | Fever HP:0012819 | Myocarditis HP:0002240 | Hepatomegaly HP:0012735 | Cough HP:0002360 | Sleep disturbance HP:0001701 | Pericarditis HP:0100614 | Myositis HP:0001959 | Polydipsia HP:0001744 | Splenomegaly HP:0004326 | Cachexia HP:0001369 | Arthritis HP:0001324 | Muscle weakness HP:0100749 | Chest pain HP:0000716 | Depression HP:0006824 | Cranial nerve paralysis HP:0000238 | Hydrocephalus HP:0007440 | Generalized hyperpigmentation HP:0002039 | Anorexia HP:0000821 | Hypothyroidism |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:21) HP:0002092 | Pulmonary artery hypertension | 3 HP:0000822 | Hypertension | 3 HP:0000238 | Nonsyndromal hydrocephalus | 1 HP:0001701 | Pericarditis | 1 HP:0100021 | Cerebral palsy | 1 HP:0009830 | Peripheral neuritis | 1 HP:0002027 | Abdominal pain | 1 HP:0000605 | Supranuclear gaze paralysis | 1 HP:0012121 | Panuveitis | 1 HP:0011034 | Amyloid disease | 1 HP:0012123 | Posterior uveitis | 1 HP:0100543 | Cognitive deficits | 1 HP:0001336 | Myoclonic jerks | 1 HP:0100633 | Inflammation of the esophagus | 1 HP:0011531 | Hyalitis | 1 HP:0000726 | Dementia | 1 HP:0010783 | Erythema | 1 HP:0002563 | Constrictive pericarditis | 1 HP:0001271 | Polyneuropathy | 1 HP:0012219 | Erythema nodosum | 1 HP:0001873 | Low platelet count | 1 |
| Disease ID | 369 |
|---|---|
| Disease | whipple disease |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:5) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:5) C0009450 | infection | 2 C0020542 | pulmonary hypertension | 2 C0235031 | neurological symptoms | 1 C0751351 | segmental myoclonus | 1 C0027066 | myoclonus | 1 |
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:7) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0007256 | Abnormal pyramidal signs | MP:0009940 | abnormal hippocampus pyramidal cell morphology | any structural anomaly of a multipolar projection neuron in the hippocampus pyramidal cell layer; pyramidal cells have a pyramid-shaped soma with the apex and an apical dendrite pointed toward the pial surface and other dendrites and an axon emerging from |
| HP:0002239 | Gastrointestinal hemorrhage | MP:0012305 | umbilical cord hemorrhage | bleeding into or from the umbilical cord |
| HP:0001324 | Muscle weakness | MP:0000746 | weakness | state of being infirm or less strong than normal |
| HP:0010741 | Edema of the lower limbs | MP:0009657 | failure of chorioallantoic fusion | failure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois |
| HP:0006824 | Cranial nerve paralysis | MP:0006303 | abnormal retinal nerve fiber layer morphology | any structural anomaly of the layer of the retina formed by expansion of the fibers of the optic nerve |
| HP:0000855 | Insulin resistance | MP:0010935 | increased airway resistance | greater opposition to flow of air caused by the forces of friction, measured as the ratio of driving pressure to the rate of air flow |
| HP:0007440 | Generalized hyperpigmentation | MP:0001188 | hyperpigmentation | excess of pigment in any or all tissues or a part of a tissue |
Mapped by homologous gene(Total Items:46) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0012735 | Cough | 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:0001945 | Fever | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0100721 | Mediastinal lymphadenopathy | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0002516 | Increased intracranial pressure | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0001250 | Seizures | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| 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:0009830 | Peripheral neuropathy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100639 | Erectile abnormalities | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0010741 | Edema of the lower limbs | MP:0013258 | abnormal extracellular matrix morphology | any structural anomaly of the structure lying external to one or more cells, which provides structural support for cells or tissues; in mammals, the extracellular matrix is completely external to the cell |
| HP:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002360 | Sleep disturbance | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0001336 | Myoclonus | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002024 | Malabsorption | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| 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:0004326 | Cachexia | 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:0000238 | Hydrocephalus | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0002093 | Respiratory insufficiency | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0000821 | Hypothyroidism | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0100829 | Galactorrhea | MP:0014167 | ectopic bone | the appearance of an extra bone structure at an atypical location |
| HP:0002239 | Gastrointestinal hemorrhage | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0002014 | Diarrhea | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001324 | Muscle weakness | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| 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:0100614 | Myositis | MP:0011635 | abnormal mitochondrial crista morphology | Any of the inward folds of the mitochondrial inner membrane; crista number, extent, and shape differ in mitochondria from different tissues and organisms; crista appear to be devices for increasing the surface area of the mitochondrial inner membrane, whe |
| HP:0007256 | Abnormal pyramidal signs | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002383 | Encephalitis | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0000855 | Insulin resistance | 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:0002829 | Arthralgia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000554 | Uveitis | MP:0013501 | increased fibroblast apoptosis | increase in the timing or the number of fibroblast cells undergoing programmed cell death |
| HP:0000520 | Proptosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0002027 | Abdominal pain | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| 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:0002376 | Developmental regression | 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:0001251 | Ataxia | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0007440 | Generalized hyperpigmentation | MP:0014167 | ectopic bone | the appearance of an extra bone structure at an atypical location |
| HP:0003326 | Myalgia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001658 | Myocardial infarction | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001959 | Polydipsia | MP:0013572 | abnormal parathyroid gland chief cell morphology | any structural anomaly of an epithelial cell that are collectively arranged in wide, irregular interconnecting columns in the parathyroid gland, that is responsible for the synthesis and secretion of parathyroid hormone (PTH) |
| HP:0100749 | Chest pain | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| 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:0002902 | Hyponatremia | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0006824 | Cranial nerve paralysis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 369 |
|---|---|
| Disease | whipple disease |
| Case | (Waiting for update.) |