eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| kernicterus | ||||
| Disease ID | 1286 |
|---|---|
| Disease | kernicterus |
| Definition | A term used pathologically to describe BILIRUBIN staining of the BASAL GANGLIA; BRAIN STEM; and CEREBELLUM and clinically to describe a syndrome associated with HYPERBILIRUBINEMIA. Clinical features include athetosis, MUSCLE SPASTICITY or hypotonia, impaired vertical gaze, and DEAFNESS. Nonconjugated bilirubin enters the brain and acts as a neurotoxin, often in association with conditions that impair the BLOOD-BRAIN BARRIER (e.g., SEPSIS). This condition occurs primarily in neonates (INFANT, NEWBORN), but may rarely occur in adults. (Menkes, Textbook of Child Neurology, 5th ed, p613) |
| Synonym | bilirubin enceph bilirubin encephalopathies bilirubin encephalopathy enceph bilirubin enceph hyperbilirubinemic encephalopathies, bilirubin encephalopathies, hyperbilirubinemic encephalopathy, bilirubin encephalopathy, hyperbilirubinemic hyperbilirubinemic enceph hyperbilirubinemic encephalopathies hyperbilirubinemic encephalopathy kernicterus (disorder) kernicterus (morphologic abnormality) kernicterus [disease/finding] kernicterus of newborn kernicterus of newborn (disorder) kernicterus of newborn nos kernicterus of newborn nos (disorder) kernicterus of newborn, nos nuclear jaundice |
| Orphanet | |
| DOID | |
| UMLS | C0022610 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:8) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:30) 23456 | ABCB10 | 2.227 | DISEASES 4363 | ABCC1 | 3.646 | DISEASES 10257 | ABCC4 | 1.26 | DISEASES 467 | ATF3 | 2.005 | DISEASES 522 | ATP5J | 1.938 | DISEASES 629 | CFB | 1.063 | DISEASES 7122 | CLDN5 | 1.098 | DISEASES 1192 | CLIC1 | 1.19 | DISEASES 55748 | CNDP2 | 2.664 | DISEASES 1660 | DHX9 | 1.668 | DISEASES 2035 | EPB41 | 1.386 | DISEASES 2879 | GPX4 | 1.12 | DISEASES 8518 | IKBKAP | 2.754 | DISEASES 4157 | MC1R | 1.022 | DISEASES 90550 | MCU | 1.76 | DISEASES 4507 | MTAP | 1.575 | DISEASES 4536 | MT-ND2 | 1.614 | DISEASES 56953 | NT5M | 1.653 | DISEASES 116448 | OLIG1 | 2.262 | DISEASES 10215 | OLIG2 | 1.269 | DISEASES 11315 | PARK7 | 2.235 | DISEASES 5313 | PKLR | 1.823 | DISEASES 112476 | PRRT2 | 1.371 | DISEASES 6007 | RHD | 3.765 | DISEASES 23212 | RRS1 | 1.501 | DISEASES 51750 | RTEL1 | 1.54 | DISEASES 6708 | SPTA1 | 1.152 | DISEASES 6710 | SPTB | 1.863 | DISEASES 7054 | TH | 1.211 | DISEASES 79228 | THOC6 | 3.065 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1286 |
|---|---|
| Disease | kernicterus |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:11) HP:0000952 | Yellow skin | 5 HP:0002904 | High blood bilirubin levels | 5 HP:0006579 | Neonatal jaundice | 2 HP:0100021 | Cerebral palsy | 2 HP:0003265 | Neonatal hyperbilirubinemia | 2 HP:0000969 | Dropsy | 1 HP:0001903 | Anemia | 1 HP:0100806 | Sepsis | 1 HP:0001343 | Kernicterus | 1 HP:0011445 | Athetoid cerebral palsy | 1 HP:0001298 | Encephalopathy | 1 |
| Disease ID | 1286 |
|---|---|
| Disease | kernicterus |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:9) |
| 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) | |
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| (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:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1286 |
|---|---|
| Disease | kernicterus |
| Case | (Waiting for update.) |