eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| cholestasis-lymphedema syndrome | ||||
| Disease ID | 1735 |
|---|---|
| Disease | cholestasis-lymphedema syndrome |
| Definition | A rare genetic syndrome which occurs primarily among individuals of Norwegian descent with an autosomal recessive pattern of inheritance. It is caused, in some cases, by the inheritance of a mutation of the LSC1 gene on chromosome 15. Clinical signs include lymphedema of the lower extremities and cholestasis. The clinical course includes giant-cell hepatitis and progression to cirrhosis. |
| Synonym | aagenaes syndrome chls cholestasis lymphedema syndrome cholestasis-edema syndrome, norwegian type cholestasis-edema syndrome, norwegian type (disorder) cholestasis-lymphoedema syndrome cholestasis-oedema syndrome, norwegian type cholestatic jaundice with hereditary lymphedema cholestatic jaundice with hereditary lymphoedema lcs lcs1 lymphedema - cholestasis syndrome lymphedema-cholestasis syndrome norwegian cholestasis |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0268314 |
| 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:2) |
| Locus | (Waiting for update.) |
| Disease ID | 1735 |
|---|---|
| Disease | cholestasis-lymphedema syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:29) HP:0006566 | Neonatal cholestatic liver disease HP:0002240 | Enlarged liver HP:0002239 | Gastrointestinal hemorrhage HP:0001012 | Multiple lipomas HP:0012378 | Fatigue HP:0002653 | Bone pain HP:0003155 | Hyperphosphatasia HP:0002027 | Abdominal pain HP:0001000 | Abnormality of skin pigmentation HP:0002910 | Elevated transaminases HP:0001004 | Lymphedema HP:0001055 | Erysipelas HP:0001409 | Portal hypertension HP:0002017 | Nausea and vomiting HP:0001394 | Hepatic cirrhosis HP:0002024 | Intestinal malabsorption HP:0000952 | Jaundice HP:0011985 | Acholic stools HP:0003110 | Abnormality of urine homeostasis HP:0003077 | Hyperlipidemia HP:0001080 | Biliary tract abnormality HP:0002908 | Conjugated hyperbilirubinemia HP:0100763 | Abnormality of the lymphatic system HP:0002240 | Hepatomegaly HP:0001004 | Lymphatic obstruction HP:0001744 | Splenomegaly HP:0000952 | Yellow skin HP:0001394 | Cirrhosis HP:0004349 | Reduced bone mineral density |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1735 |
|---|---|
| Disease | cholestasis-lymphedema syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (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:0002239 | Gastrointestinal hemorrhage | MP:0012305 | umbilical cord hemorrhage | bleeding into or from the umbilical cord |
| HP:0001080 | Biliary tract abnormality | MP:0010352 | gastrointestinal tract polyps | abnormal tissue masses that protrude into the lumen of the gastrointestinal tract and are tethered to the wall of the gastrointestinal tract |
| HP:0002910 | Elevated hepatic transaminases | MP:0002628 | hepatic steatosis | an accumulation of fat deposits in the liver |
| HP:0001000 | Abnormality of skin pigmentation | 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:0001409 | Portal hypertension | MP:0000231 | hypertension | sustained high blood pressure at a level that is likely to result in cardiovascular disease and/or other pathological states |
| HP:0004349 | Reduced bone mineral density | MP:0013630 | increased bone trabecular spacing | increase in the amount of space between trabeculae in cancellous bone |
| HP:0003110 | Abnormality of urine homeostasis | MP:0009643 | abnormal urine homeostasis | anomaly in the processes involved in the maintenance of an internal equilibrium of the various chemical or protein components of the urine |
| 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:0003155 | Elevated alkaline phosphatase | MP:0011584 | increased alkaline phosphatase activity | greater ability to catalyze the reaction: an orthophosphoric monoester + H2O = an alcohol + phosphate, with an alkaline pH optimum |
Mapped by homologous gene(Total Items:24) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003077 | Hyperlipidemia | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0001080 | Biliary tract abnormality | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002653 | Bone pain | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0011985 | Acholic stools | MP:0011100 | preweaning lethality, complete penetrance | death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age) |
| HP:0001055 | Erysipelas | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002908 | Conjugated hyperbilirubinemia | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001004 | Lymphedema | 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: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: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:0003110 | Abnormality of urine homeostasis | 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:0001012 | Multiple lipomas | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001000 | Abnormality of skin pigmentation | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001409 | Portal hypertension | MP:0014074 | increased brain glycogen level | greater than the normal concentration of a readily converted carbohydrate reserve in brain |
| HP:0002239 | Gastrointestinal hemorrhage | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0002017 | Nausea and vomiting | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| 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:0000952 | Jaundice | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0002910 | Elevated hepatic transaminases | 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:0002027 | Abdominal pain | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| 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:0003155 | Elevated alkaline phosphatase | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0004349 | Reduced bone mineral density | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| Disease ID | 1735 |
|---|---|
| Disease | cholestasis-lymphedema syndrome |
| Case | (Waiting for update.) |