eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| intestinal lymphangiectasia | ||||
| Disease ID | 825 |
|---|---|
| Disease | intestinal lymphangiectasia |
| Definition | Dilatation of the intestinal lymphatic system usually caused by an obstruction in the intestinal wall. It may be congenital or acquired and is characterized by DIARRHEA; HYPOPROTEINEMIA; peripheral and/or abdominal EDEMA; and PROTEIN-LOSING ENTEROPATHIES. |
| Synonym | enteropathy, hypercatabolic protein losing enteropathy, lymphangiectatic protein-losing hypoproteinemia, familial, with lymphangiectatic enteropathy intestinal lymphangiectases intestinal lymphangiectasis intestinal lymphangiectasis (disorder) lymphangiectases, intestinal lymphangiectasia, intestinal lymphangiectasis, intestinal lymphangiectasis, intestinal [disease/finding] lymphedema, neonatal, due to exudative enteropathy |
| Orphanet | |
| OMIM | |
| UMLS | C0024215 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:10) C0033680 | protein-losing enteropathy | 4 C0021831 | enteropathy | 3 C0024236 | lymphedema | 1 C0024523 | malabsorption | 1 C0019618 | histiocytosis | 1 C0042961 | volvulus | 1 C0029456 | osteoporosis | 1 C0029442 | osteomalacia | 1 C0010346 | crohn's disease | 1 C0019621 | histiocytosis x | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 825 |
|---|---|
| Disease | intestinal lymphangiectasia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:25) HP:0002202 | Pleural effusion HP:0001888 | Lymphocytopenia HP:0002014 | Diarrhea HP:0100326 | Immunologic hypersensitivity HP:0004313 | Decreased antibody level in blood HP:0008360 | Neonatal hypoproteinemia HP:0002024 | Intestinal malabsorption HP:0001888 | Lymphopenia HP:0200042 | Skin ulcer HP:0001541 | Ascites HP:0008066 | Abnormal blistering of the skin HP:0002024 | Malabsorption HP:0001510 | Growth delay HP:0006641 | Prominent floating ribs HP:0002593 | Intestinal lymphangiectasia HP:0002664 | Neoplasm HP:0010741 | Edema of the lower limbs HP:0002901 | Hypocalcemia HP:0010741 | Peripheral edema of lower extremity HP:0100763 | Abnormality of the lymphatic system HP:0002563 | Constrictive pericarditis HP:0004315 | IgG deficiency HP:0000505 | Visual impairment HP:0001595 | Hair abnormality HP:0001072 | Thickened skin |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:14) HP:0002243 | Protein-losing enteropathy | 4 HP:0002242 | Enteropathy | 3 HP:0003075 | Hypoproteinemia | 2 HP:0002566 | Intestinal malrotation | 1 HP:0001217 | Digital clubbing | 1 HP:0001004 | Lymphatic obstruction | 1 HP:0003073 | Hypoalbuminaemia | 1 HP:0000939 | Osteoporosis | 1 HP:0002749 | Osteomalacia | 1 HP:0100727 | Histiocytosis | 1 HP:0006521 | Pulmonary lymphangiectasis | 1 HP:0100280 | Morbus Crohn | 1 HP:0002580 | Volvulus | 1 HP:0002024 | Intestinal malabsorption | 1 |
| Disease ID | 825 |
|---|---|
| Disease | intestinal lymphangiectasia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:14) C2707258 | infections C1962974 | chylothorax C1258215 | ileus C0850497 | immunologic deficiency C0221348 | yellow nail syndrome C0033680 | protein-losing enteropathy C0029166 | oral manifestations C0024523 | malabsorption syndrome C0024299 | lymphoma C0024141 | systemic lupus erythematosus C0021831 | enteropathy C0020639 | hypoproteinemia C0019061 | hemolytic uremic syndrome C0007760 | cerebellar syndrome |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:3) |
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:8) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001072 | Thickened skin | MP:0009932 | skin fibrosis | invasion of fibrous connective tissue into the skin, often resulting from inflammation or injury |
| HP:0008066 | Abnormal blistering of the skin | MP:0009536 | abnormal interstitial cell of Cajal morphology | any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which |
| HP:0100763 | Abnormality of the lymphatic system | MP:0004502 | decreased incidence of tumors by chemical induction | lower than normal frequency of tumor incidence induced by one or more chemical carcinogens or mutagens |
| HP:0004315 | IgG deficiency | MP:0002493 | increased IgG level | greater than normal immunoglobulin class G level |
| 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:0004313 | Decreased antibody level in blood | MP:0011460 | decreased urine chloride ion level | abnormally low amounts of chloride ion in the urine |
| HP:0001595 | Abnormality of the hair | MP:0008261 | arrest of male meiosis | cessation of the progression of the process of nuclear division that results in sperm with one half the normal chromosome number of the original cell |
| HP:0100326 | Immunologic hypersensitivity | MP:0005617 | increased susceptibility to type IV hypersensitivity reaction | greater likelihood of developing an antigen-elicited cellular immune reaction that results in tissue damage, but does not require Ab participation; the response is seen at the area of contact |
Mapped by homologous gene(Total Items:19) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0100763 | Abnormality of the lymphatic system | MP:0012431 | increased lymphoma incidence | greater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period |
| 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:0001888 | Lymphopenia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002202 | Pleural effusion | MP:0014233 | bile duct epithelium hyperplasia | |
| HP:0002664 | Neoplasm | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001510 | Growth delay | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0001595 | Abnormality of the hair | MP:0014127 | increased thymoma incidence | greater than the expected number of a malignant neoplasm originating from the epithelial cells of the thymus, occurring in a specific population in a given time period; thymoma is an uncommon tumor linked with myasthenia gravis and other autoimmune diseas |
| HP:0200042 | Skin ulcer | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000505 | Visual impairment | 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:0100326 | Immunologic hypersensitivity | MP:0013367 | parotid gland inflammation | local accumulation of fluid, plasma proteins, and leukocytes in either of the largest of the major salivary glands situated below and in front of each ear |
| HP:0002014 | Diarrhea | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0008066 | Abnormal blistering of the skin | 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:0002593 | Intestinal lymphangiectasia | MP:0012279 | wide sternum | an increase in the width of the long flat bone of the chest that articulates with the clavicle and first seven rib pairs |
| HP:0002901 | Hypocalcemia | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0004313 | Decreased antibody level in blood | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002024 | Malabsorption | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001541 | Ascites | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001072 | Thickened skin | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0004315 | IgG deficiency | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| Disease ID | 825 |
|---|---|
| Disease | intestinal lymphangiectasia |
| Case | (Waiting for update.) |