eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| isolated polycystic liver disease | ||||
| Disease ID | 450 |
|---|---|
| Disease | isolated polycystic liver disease |
| Definition | A usually asymptomatic hereditary disorder which is often associated with polycystic kidney disease. It is characterized by the presence of fluid-filled biliary cysts throughout the liver. |
| Synonym | (congenital cystic liver disease) or (congenital hepatic cyst) (congenital cystic liver disease) or (congenital hepatic cyst) (disorder) cong cystic liver dis congenital cystic disease of liver congenital cystic disease of liver (disorder) congenital cystic liver congenital cystic liver disease congenital cystic liver disease (disorder) congenital cystic liver disease nos congenital cystic liver disease nos (disorder) congenital hepatic cyst congenital polycystic disease of liver congenital polycystic liver disease cystic disease liver cystic disease of liver cystic diseases liver cystic liver disease disease liver polycystic diseases liver polycystic fibrocystic disease of liver fibrocystic liver disease fibrocystic liver disease (disorder) isolated autosomal dominant polycystic liver disease liver polycystic disease of liver cystic disease pld - polycystic liver disease polycystic liver disease |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0158683 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:11) C0085413 | autosomal dominant polycystic kidney | 3 C0022658 | kidney disease | 3 C0022679 | cystic kidney | 3 C0085413 | autosomal dominant polycystic kidney disease | 2 C0010631 | cystadenocarcinoma | 1 C0025286 | meningiomas | 1 C0349604 | intracranial meningiomas | 1 C0019204 | hepatocellular carcinoma | 1 C0206754 | neuroendocrine tumor | 1 C0349604 | intracranial meningioma | 1 C0018552 | hamartomas | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:21) 111 | ADCY5 | 1.861 | DISEASES 23193 | GANAB | 3.228 | DISEASES 151306 | GPBAR1 | 3.283 | DISEASES 10013 | HDAC6 | 2.023 | DISEASES 10525 | HYOU1 | 2.825 | DISEASES 3710 | ITPR3 | 1.647 | DISEASES 2475 | MTOR | 1.983 | DISEASES 64359 | NXN | 2.487 | DISEASES 84876 | ORAI1 | 1.565 | DISEASES 9033 | PKD2L1 | 2.397 | DISEASES 5314 | PKHD1 | 3.172 | DISEASES 5587 | PRKD1 | 3.141 | DISEASES 7095 | SEC62 | 2.885 | DISEASES 11231 | SEC63 | 7.292 | DISEASES 29072 | SETD2 | 1.223 | DISEASES 6752 | SSTR2 | 1.456 | DISEASES 7223 | TRPC4 | 2.155 | DISEASES 140803 | TRPM6 | 1.901 | DISEASES 79054 | TRPM8 | 1.473 | DISEASES 162514 | TRPV3 | 2.137 | DISEASES 55503 | TRPV6 | 1.563 | DISEASES |
| Locus | Symbol | Locus(Total Locus:3) |
| Disease ID | 450 |
|---|---|
| Disease | isolated polycystic liver disease |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:21) HP:0002020 | Gastroesophageal reflux HP:0003418 | Back pain HP:0003270 | Abdominal distention HP:0002239 | Gastrointestinal hemorrhage HP:0005562 | Multiple renal cysts HP:0006557 | Polycystic liver disease HP:0002093 | Respiratory insufficiency HP:0002617 | Aneurysm HP:0000107 | Renal cyst HP:0003155 | Hyperphosphatasia HP:0002027 | Abdominal pain HP:0003573 | Increased bilirubin HP:0001732 | Abnormality of the pancreas HP:0001626 | Cardiovascular abnormality HP:0003270 | Distended abdomen HP:0000707 | Neurological abnormality HP:0002086 | Abnormality of the respiratory system HP:0003573 | Increased total bilirubin HP:0001541 | Ascites HP:0002240 | Hepatomegaly HP:0008872 | Feeding difficulties in infancy |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:12) HP:0002240 | Enlarged liver | 4 HP:0000113 | Polycystic kidney dysplasia | 3 HP:0001402 | Hepatocellular carcinoma | 1 HP:0001824 | Weight loss | 1 HP:0002664 | Neoplasia | 1 HP:0001399 | Liver failure | 1 HP:0011921 | Exudative pleural effusion | 1 HP:0002202 | Pleural effusion | 1 HP:0001407 | Hepatic cysts | 1 HP:0030731 | Carcinoma | 1 HP:0003270 | Distended abdomen | 1 HP:0100009 | Intracranial meningioma | 1 |
| Disease ID | 450 |
|---|---|
| Disease | isolated polycystic liver disease |
| 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:6) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs119103233 | NA | 11231 | SEC63 | umls:C0158683 | CLINVAR | NA | 0.442985861 | NA | SEC63 | 6 | 107929466 | C | T |
| rs121918519 | NA | 5589 | PRKCSH | umls:C0158683 | CLINVAR | NA | 0.447524428 | NA | PRKCSH | 19 | 11448604 | C | T |
| rs121918520 | NA | 5589 | PRKCSH | umls:C0158683 | CLINVAR | NA | 0.447524428 | NA | PRKCSH | 19 | 11448917 | C | G,T |
| rs727504146 | NA | 11231 | SEC63 | umls:C0158683 | CLINVAR | NA | 0.442985861 | NA | SEC63 | 6 | 107957901 | G | - |
| rs794727187 | NA | 5589 | PRKCSH | umls:C0158683 | CLINVAR | NA | 0.447524428 | NA | PRKCSH | 19 | 11449285 | AAGA | - |
| rs797044656 | NA | 11231 | SEC63 | umls:C0158683 | CLINVAR | NA | 0.442985861 | NA | SEC63 | 6 | 107893550 | - | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:11) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0005562 | Multiple renal cysts | MP:0000522 | kidney cortex cysts | abnormal membranous sacs appearing in the outer portion of the kidney located between the renal capsule and the renal medulla and involved in ultrafiltration, containing the renal corpuscles, the renal tubules (except for parts of the loop of Henle which |
| HP:0002086 | Abnormality of the respiratory system | MP:0010919 | increased number of pulmonary neuroendocrine bodies | greater number of the corpuscular, organoid structures composed of PNECs, found as distinctive innervated clusters only within intrapulmonary airways, where they appear concentrated at airway branch points; NEBs reach from the basement membrane to the air |
| HP:0008872 | Feeding difficulties in infancy | MP:0011075 | abnormal macrophage activation involved in immune response | anomaly in the process in which a change in response and behavior of a macrophage results from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response |
| HP:0002239 | Gastrointestinal hemorrhage | MP:0012305 | umbilical cord hemorrhage | bleeding into or from the umbilical cord |
| HP:0003573 | Increased total bilirubin | MP:0005344 | increased circulating bilirubin level | increased concentration in the blood of the bile pigment bilirubin, normally found in the liver and in red blood cells |
| HP:0006557 | Polycystic liver disease | MP:0000609 | abnormal liver physiology | any functional anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage |
| HP:0001732 | Abnormality of the pancreas | MP:0014230 | dilated crypts of Lieberkuhn | |
| HP:0001626 | Abnormality of the cardiovascular system | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0000707 | Abnormality of the nervous system | MP:0013620 | increased internal diameter of femur | increased cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
| 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 |
| HP:0000107 | Renal cyst | MP:0003266 | biliary cyst | the appearance of fluid-filled sacs within the bile ducts |
Mapped by homologous gene(Total Items:19) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000107 | Renal cyst | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0005562 | Multiple renal cysts | MP:0011108 | embryonic lethality during organogenesis, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14) |
| HP:0002093 | Respiratory insufficiency | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0003573 | Increased total bilirubin | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| 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:0001732 | Abnormality of the pancreas | MP:0014233 | bile duct epithelium hyperplasia | |
| HP:0000707 | Abnormality of the nervous system | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0003270 | Abdominal distention | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002617 | Aneurysm | 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:0001541 | Ascites | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0006557 | Polycystic liver disease | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0008872 | Feeding difficulties in infancy | 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:0002239 | Gastrointestinal hemorrhage | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0001626 | Abnormality of the cardiovascular system | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002020 | Gastroesophageal reflux | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0002086 | Abnormality of the respiratory system | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0003418 | Back pain | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 450 |
|---|---|
| Disease | isolated polycystic liver disease |
| Case | (Waiting for update.) |