eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| dubin-johnson syndrome | ||||
| Disease ID | 70 |
|---|---|
| Disease | dubin-johnson syndrome |
| Definition | A benign, autosomally recessive inherited hyperbilirubinemia characterized by the presence of a dark pigment in the centrilobular region of the liver cells. There is a functional defect in biliary excretion of bilirubin, cholephilic dyes, and porphyrins. Affected persons may be asymptomatic or have vague constitutional or gastrointestinal symptoms. The liver may be slightly enlarged, and oral and intravenous cholangiography fails to visualize the biliary tract. |
| Synonym | black liver-jaundice syndrome chronic idiopathic jaundice chronic idiopathic jaundice with pigmented liver chronic idiopathic jaundices djs djs - dubin-johnson syndrome dubin johnson syndrome dubin johnsons syndrome dubin-johnson syndrome (disorder) dubin-sprinz disease dubin-sprinz syndrome hblrdj hyperbilirubinaemia ii hyperbilirubinemia 2 hyperbilirubinemia 2s hyperbilirubinemia ii hyperbilirubinemia iis hyperbilirubinemia, dubin-johnson type icterus-hepatic pigmentation syndrome idiopathic jaundice, chronic idiopathic jaundices, chronic jaundice, chronic idiopathic jaundice, chronic idiopathic [disease/finding] jaundices, chronic idiopathic spinz-nelson syndrome syndrome, dubin-johnson |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0022350 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:8) C0041296 | tuberculosis | 1 C0947622 | cholecystolithiasis | 1 C0042721 | viral hepatitis | 1 C0019158 | hepatitis | 1 C0019204 | hepatocellular carcinoma | 1 C0018920 | cavernous hemangiomas | 1 C0018920 | cavernous hemangioma | 1 C0007102 | colon cancer | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:31) 4363 | ABCC1 | 3.734 | DISEASES 89845 | ABCC10 | 2.737 | DISEASES 85320 | ABCC11 | 3.8 | DISEASES 1244 | ABCC2 | 6.965 | DISEASES 10257 | ABCC4 | 5.857 | DISEASES 10057 | ABCC5 | 3.841 | DISEASES 6833 | ABCC8 | 2.468 | DISEASES 229 | ALDOB | 1.684 | DISEASES 55748 | CNDP2 | 1.99 | DISEASES 10301 | DLEU1 | 2.738 | DISEASES 28514 | DLL1 | 1.05 | DISEASES 1803 | DPP4 | 1.559 | DISEASES 7430 | EZR | 2.055 | DISEASES 2155 | F7 | 2.142 | DISEASES 9573 | GDF3 | 2.534 | DISEASES 728441 | GGT2 | 1.461 | DISEASES 3030 | HADHA | 1.081 | DISEASES 148738 | HFE2 | 1.581 | DISEASES 3996 | LLGL1 | 1.898 | DISEASES 4133 | MAP2 | 1.293 | DISEASES 64949 | MRPS26 | 4.14 | DISEASES 4478 | MSN | 2.394 | DISEASES 9961 | MVP | 2.788 | DISEASES 23218 | NBEAL2 | 1.993 | DISEASES 9971 | NR1H4 | 1.468 | DISEASES 8856 | NR1I2 | 1.061 | DISEASES 5447 | POR | 2.226 | DISEASES 56980 | PRDM10 | 1.353 | DISEASES 5962 | RDX | 2.602 | DISEASES 10165 | SLC25A13 | 1.807 | DISEASES 7360 | UGP2 | 3.729 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) ABCC2 | 10q24.2 |
| Disease ID | 70 |
|---|---|
| Disease | dubin-johnson syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:12) HP:0000952 | Yellow skin HP:0012086 | Abnormal urinary color HP:0001928 | Abnormality of coagulation HP:0012378 | Fatigue HP:0002027 | Abdominal pain HP:0001080 | Biliary tract abnormality HP:0002908 | Conjugated hyperbilirubinemia HP:0001392 | Abnormality of the liver HP:0001945 | Fever HP:0000952 | Jaundice HP:0002240 | Hepatomegaly HP:0004295 | Abnormality of the gastric mucosa |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:8) HP:0000952 | Yellow skin | 2 HP:0030731 | Carcinoma | 1 HP:0001402 | Hepatocellular carcinoma | 1 HP:0006562 | Viral hepatitis | 1 HP:0003003 | Colon cancer | 1 HP:0001046 | Intermittent jaundice | 1 HP:0012115 | Liver inflammation | 1 HP:0001048 | Cavernous angioma | 1 |
| Disease ID | 70 |
|---|---|
| Disease | dubin-johnson syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:4) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:15) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs146405172 | NA | 1244 | ABCC2 | umls:C0022350 | CLINVAR | NA | 0.581493566 | NA | ABCC2 | 10 | 99811603 | G | A |
| rs17222547 | NA | 1244 | ABCC2 | umls:C0022350 | CLINVAR | NA | 0.581493566 | NA | ABCC2 | 10 | 99831628 | C | A |
| rs34937870 | NA | 1244 | ABCC2 | umls:C0022350 | CLINVAR | NA | 0.581493566 | NA | ABCC2 | 10 | 99842094 | G | A,T |
| rs387906395 | NA | 1244 | ABCC2 | umls:C0022350 | CLINVAR | NA | 0.581493566 | NA | ABCC2 | 10 | 99808231 | T | A |
| rs387906396 | NA | 1244 | ABCC2 | umls:C0022350 | CLINVAR | NA | 0.581493566 | NA | ABCC2 | 10 | 99811604 | T | C |
| rs56199535 | 12942343 | 1244 | ABCC2 | umls:C0022350 | BeFree | Homozygous mutation Arg768Trp in the ABC-transporter encoding gene MRP2/cMOAT/ABCC2 causes Dubin-Johnson syndrome in a Caucasian patient. | 0.581493566 | 2003 | ABCC2 | 10 | 99818820 | C | A,G,T |
| rs56199535 | 12942343 | 9429 | ABCG2 | umls:C0022350 | BeFree | Homozygous mutation Arg768Trp in the ABC-transporter encoding gene MRP2/cMOAT/ABCC2 causes Dubin-Johnson syndrome in a Caucasian patient. | 0.000542884 | 2003 | ABCC2 | 10 | 99818820 | C | A,G,T |
| rs56199535 | 25336012 | 1244 | ABCC2 | umls:C0022350 | UNIPROT | Neonatal Dubin-Johnson syndrome: novel compound heterozygous mutation in the ABCC2 gene. | 0.581493566 | 2014 | ABCC2 | 10 | 99818820 | C | A,G,T |
| rs56199535 | NA | 1244 | ABCC2 | umls:C0022350 | CLINVAR | NA | 0.581493566 | NA | ABCC2 | 10 | 99818820 | C | A,G,T |
| rs72558199 | NA | 1244 | ABCC2 | umls:C0022350 | CLINVAR | NA | 0.581493566 | NA | ABCC2 | 10 | 99832069 | C | T |
| rs72558200 | NA | 1244 | ABCC2 | umls:C0022350 | CLINVAR | NA | 0.581493566 | NA | ABCC2 | 10 | 99836125 | G | A |
| rs72558200 | 17287630 | 1244 | ABCC2 | umls:C0022350 | BeFree | FVII deficiency in both populations is caused by a founder A244V mutation in the F7 gene and DJS is caused by two founder mutations, I1173F and R1150H in the MRP2 gene that are specific for Iranian and Moroccan Jewish patients, respectively. | 0.581493566 | 2007 | ABCC2 | 10 | 99836125 | G | A |
| rs72558201 | NA | 1244 | ABCC2 | umls:C0022350 | CLINVAR | NA | 0.581493566 | NA | ABCC2 | 10 | 99836193 | A | G,T |
| rs72558201 | 17287630 | 1244 | ABCC2 | umls:C0022350 | BeFree | FVII deficiency in both populations is caused by a founder A244V mutation in the F7 gene and DJS is caused by two founder mutations, I1173F and R1150H in the MRP2 gene that are specific for Iranian and Moroccan Jewish patients, respectively. | 0.581493566 | 2007 | ABCC2 | 10 | 99836193 | A | G,T |
| rs72558202 | NA | 1244 | ABCC2 | umls:C0022350 | CLINVAR | NA | 0.581493566 | NA | ABCC2 | 10 | 99845781 | A | G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:4) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0004295 | Abnormality of the gastric mucosa | MP:0004500 | increased incidence of tumors by ionizing radiation induction | higher than normal frequency of tumor incidence induced by radiation in which the individual particle or photon carries sufficient energy to completely remove an electron from its orbit; common types of this radiation include gamma-rays and X-rays |
| HP:0001392 | Abnormality of the liver | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| 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:0001928 | Abnormality of coagulation | MP:0013283 | failure of ventral body wall closure | failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h |
Mapped by homologous gene(Total Items:10) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001945 | Fever | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0004295 | Abnormality of the gastric mucosa | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002027 | Abdominal pain | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| 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:0001392 | Abnormality of the liver | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0001928 | Abnormality of coagulation | 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:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| 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 |
| Disease ID | 70 |
|---|---|
| Disease | dubin-johnson syndrome |
| Case | (Waiting for update.) |