PedAM

Pediatric Disease Annotations & Medicines


	kernicterus

Disease ID	594
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	ORPHANET:415286
DOID	DOID:2382
UMLS	C0022610
MeSH	D007647
SNOMED-CT	SNOMEDCT_US_2016_09_01:50143004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:5) C0007789 \| cerebral palsy \| 2 C0014761 \| hemolytic disease of the newborn \| 1 C0022610 \| bilirubin encephalopathy \| 1 C0002871 \| anemia \| 1 C0017920 \| glucose-6-phosphate dehydrogenase deficiency \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) UGT1A1 \| 54658 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:64) 3162 \| HMOX1 \| DISEASES 5816 \| PVALB \| DISEASES 412 \| STS \| DISEASES 84618 \| NT5C1A \| DISEASES 7355 \| SLC35A2 \| DISEASES 3337 \| DNAJB1 \| DISEASES 1965 \| EIF2S1 \| DISEASES 10599 \| SLCO1B1 \| DISEASES 25833 \| POU2F3 \| DISEASES 9493 \| KIF23 \| DISEASES 3832 \| KIF11 \| DISEASES 28234 \| SLCO1B3 \| DISEASES 3034 \| HAL \| DISEASES 3093 \| UBE2K \| DISEASES 6521 \| SLC4A1 \| DISEASES 3553 \| IL1B \| DISEASES 4722 \| NDUFS3 \| DISEASES 10661 \| KLF1 \| DISEASES 793 \| CALB1 \| DISEASES 644 \| BLVRA \| DISEASES 286 \| ANK1 \| DISEASES 5243 \| ABCB1 \| DISEASES 9611 \| NCOR1 \| DISEASES 9775 \| EIF4A3 \| DISEASES 25953 \| PNKD \| DISEASES 23657 \| SLC7A11 \| DISEASES 6006 \| RHCE \| DISEASES 213 \| ALB \| DISEASES 2038 \| EPB42 \| DISEASES 54578 \| UGT1A6 \| DISEASES 54658 \| UGT1A1 \| DISEASES 51327 \| AHSP \| DISEASES 835 \| CASP2 \| DISEASES 5315 \| PKM \| DISEASES 23212 \| RRS1 \| DISEASES 55748 \| CNDP2 \| DISEASES 79228 \| THOC6 \| DISEASES 10215 \| OLIG2 \| DISEASES 6007 \| RHD \| DISEASES 5313 \| PKLR \| DISEASES 11315 \| PARK7 \| DISEASES 467 \| ATF3 \| DISEASES 2035 \| EPB41 \| DISEASES 2879 \| GPX4 \| DISEASES 112476 \| PRRT2 \| DISEASES 4536 \| MT-ND2 \| DISEASES 23456 \| ABCB10 \| DISEASES 1660 \| DHX9 \| DISEASES 6708 \| SPTA1 \| DISEASES 51750 \| RTEL1 \| DISEASES 90550 \| MCU \| DISEASES 8518 \| IKBKAP \| DISEASES 1192 \| CLIC1 \| DISEASES 10257 \| ABCC4 \| DISEASES 4507 \| MTAP \| DISEASES 7054 \| TH \| DISEASES 116448 \| OLIG1 \| DISEASES 56953 \| NT5M \| DISEASES 6710 \| SPTB \| DISEASES 4363 \| ABCC1 \| DISEASES 7122 \| CLDN5 \| DISEASES 522 \| ATP5J \| DISEASES 629 \| CFB \| DISEASES 4157 \| MC1R \| DISEASES
Locus	(Waiting for update.)

Disease ID	594
Disease	kernicterus
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:9) HP:0002904 \| High blood bilirubin levels \| 5 HP:0100021 \| Cerebral palsy \| 2 HP:0003265 \| Neonatal hyperbilirubinemia \| 2 HP:0000365 \| Hearing impairment \| 2 HP:0000969 \| Dropsy \| 1 HP:0001298 \| Encephalopathy \| 1 HP:0000952 \| Yellow skin \| 1 HP:0001903 \| Anemia \| 1 HP:0100806 \| Sepsis \| 1

Disease ID	594
Disease	kernicterus
Manually Symptom	UMLS \| Name(Total Manually Symptoms:9) C0752303 \| urological manifestations C0393593 \| dystonia C0270742 \| athetoid cerebral palsy C0260662 \| hearing disorders C0221505 \| cerebral lesions C0011052 \| deaf-mutism C0004158 \| athetoid movements C0003537 \| aphasia C0003130 \| anoxia
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining 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:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:1)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0022610	sulfisoxazole	D013444	127-69-5	kernicterus	MESH:D007647	marker/mechanism	5064911

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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