MCID: KRN004
MIFTS: 48

Kernicterus

Categories: Blood diseases, Fetal diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Kernicterus

MalaCards integrated aliases for Kernicterus:

Name: Kernicterus 12 77 54 56 3 45 15 17 74
Bilirubin Encephalopathy 12 54
Hyperbilirubinemic Encephalopathy 54
Kernicterus Spectrum Disorder 54

Classifications:



External Ids:

Disease Ontology 12 DOID:2382
MeSH 45 D007647
NCIt 51 C84799
SNOMED-CT 69 50143004 74925009
ICD10 34 P57 P57.8 P57.9
UMLS 74 C0022610

Summaries for Kernicterus

NIH Rare Diseases : 54 Kernicterus  refers to the brain damage that may occur when neonatal jaundice goes untreated for too long.  Physiologic neonatal jaundice (which can affect about 60% of all newborn babies) is a very common condition in which the skin and whites of the eyes are yellowish in color within a few days after birth, due to high levels of a yellow pigment (bilirubin) created when the body gets rid of old red blood. However, in some babies, bilirubin levels may rise excessively (hyperbilirubinemia), and can damage the brain cells (neurons).Risk factors for severe jaundice and higher bilirubin levels include premature birth (before 37 weeks); darker skin color; East Asian or Mediterranean descent; feeding difficulties; jaundice in a sibling; bruising at birth; and a mother with an O blood type or Rh negative blood factor.  After a few days of jaundice toxic levels of bilirrubin in certain areas of the brain may cause several signs and symptoms such as respiratory distress, muscle spasms and/or diminished muscle tone (hypotonia). Other symptoms develop as the baby gets older, and may include delayed motor development, seizures, lack of coordination (ataxia),  muscle spasms (dystonia), involuntary movements (athetosis), sensory problems , lack of upward gaze, hearing loss, intellectual disability and difficulty speaking (dysarthria). The term "Bilirubin-induced neurologic dysfunction (BIND)" is used for the signs and symptoms of the kernicterus.  In most cases, the syndrome develops by 3 to 4 years of age. Early detection and management of jaundice can prevent kernicterus. Phototherapy is the most common used method to prevent bilirubin toxicity. The definitive method of removing bilirubin from the blood is via exchange transfusion. While medications are not usually given to babies with physiologic neonatal jaundice, in some cases phenobarbital, an inducer of liver bilirubin metabolism, has been used to reduce bilirubin levels in the blood during the first week of life.

MalaCards based summary : Kernicterus, also known as bilirubin encephalopathy, is related to neonatal jaundice and crigler-najjar syndrome, type i, and has symptoms including icterus An important gene associated with Kernicterus is UGT1A1 (UDP Glucuronosyltransferase Family 1 Member A1), and among its related pathways/superpathways are Metabolism and Drug metabolism - cytochrome P450. The drugs Pharmaceutical Solutions and Protective Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and liver, and related phenotype is Increased viability.

Disease Ontology : 12 A brain disease that is characterized by hyperbilirubinemia-induced brain dysfunction.

Wikipedia : 77 Kernicterus is a bilirubin-induced brain dysfunction. The term was coined in 1904 by Schmorl. Bilirubin... more...

Related Diseases for Kernicterus

Diseases in the Kernicterus family:

Kernicterus Due to Isoimmunization

Diseases related to Kernicterus via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 neonatal jaundice 32.3 G6PD UGT1A1
2 crigler-najjar syndrome, type i 32.1 UGT1A1 UGT1A6 UGT1A9
3 crigler-najjar syndrome, type ii 31.7 UGT1A1 UGT1A6 UGT1A8 UGT1A9
4 glucosephosphate dehydrogenase deficiency 30.8 G6PD UGT1A1
5 bilirubin metabolic disorder 30.2 ALB G6PD PKM UGT1A1 UGT1A6
6 hereditary spherocytosis 29.6 G6PD RHD SLC4A1 UGT1A1
7 blood group incompatibility 29.5 G6PD RHCE RHD SLC4A1
8 bilirubin, serum level of, quantitative trait locus 1 29.5 UGT1A1 UGT1A6 UGT1A8 UGT1A9
9 gilbert syndrome 29.2 G6PD UGT1A1 UGT1A6 UGT1A8 UGT1A9
10 kernicterus due to isoimmunization 12.3
11 chronic bilirubin encephalopathy 11.7
12 acute bilirubin encephalopathy 11.5
13 hyperbilirubinemia, transient familial neonatal 11.4
14 dyskinetic cerebral palsy 11.2
15 encephalopathy 10.5
16 parotitis 10.2 ALB G6PD
17 brain injury 10.2
18 descending colon cancer 10.1 UGT1A1 UGT1A6
19 choledocholithiasis 10.1 ALB UGT1A1
20 dihydropyrimidine dehydrogenase deficiency 10.1 UGT1A1 UGT1A6
21 hepatitis 10.1
22 pyruvate kinase deficiency of red cells 10.1 G6PD PKM
23 senile cataract 10.0 ALB G6PD
24 sickle cell anemia 10.0 G6PD UGT1A1 UGT1A6
25 beta-thalassemia 10.0 G6PD RHD UGT1A1
26 acetaminophen metabolism 10.0 UGT1A1 UGT1A6 UGT1A9
27 galactosemia 9.9
28 rheumatic fever-related antigen 9.9
29 cerebral palsy 9.9
30 hemolytic anemia 9.9
31 congenital hypothyroidism 9.9
32 aphasia 9.9
33 hypothyroidism 9.9
34 rheumatic fever 9.9
35 viral hepatitis 9.9
36 congenital hemolytic anemia 9.9
37 central pontine myelinolysis 9.9
38 athetosis 9.9
39 cerebral palsy athetoid 9.9
40 supranuclear ocular palsy 9.9
41 cholelithiasis 9.9 ALB UGT1A1 UGT1A6
42 apnea of prematurity 9.9
43 retinohepatoendocrinologic syndrome 9.8 RHCE RHD
44 pigmentation disease 9.8 PKM UGT1A1 UGT1A6
45 inherited metabolic disorder 9.8 UGT1A1 UGT1A6
46 anemia, autoimmune hemolytic 9.8 RHCE RHD
47 autoimmune disease of blood 9.8 RHCE RHD
48 coccidiosis 9.7 RHCE RHD
49 leber congenital amaurosis 4 9.7 UGT1A1 UGT1A6 UGT1A8 UGT1A9
50 malaria 9.7 ALB G6PD RHD SLC4A1

Graphical network of the top 20 diseases related to Kernicterus:



Diseases related to Kernicterus

Symptoms & Phenotypes for Kernicterus

UMLS symptoms related to Kernicterus:


icterus

GenomeRNAi Phenotypes related to Kernicterus according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability GR00386-A-1 9.17 ALB G6PD PKM RHCE RHD SLC4A1

Drugs & Therapeutics for Kernicterus

Drugs for Kernicterus (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 4
2 Protective Agents Phase 4,Not Applicable
3
Bilirubin Phase 4,Not Applicable 635-65-4, 69853-43-6 21252250 5280352
4 Antioxidants Phase 4,Not Applicable
5 Antibodies Phase 4
6 Immunologic Factors Phase 4
7 Immunoglobulins, Intravenous Phase 4
8 Immunoglobulins Phase 4
9 Rho(D) Immune Globulin Phase 4
10 gamma-Globulins Phase 4
11
Tin Phase 3 7440-31-5
12 Tin mesoporphyrin Phase 3
13
Carbon monoxide Approved, Investigational 630-08-0 281
14 Neurotransmitter Agents
15 Antimetabolites

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 Use of a New Phototherapy Device (BBloo®) for the Treatment of Hyperbilirubinemia in the Newborn Infant Unknown status NCT02156050 Phase 4
2 Efficacy of Yinzhihuang Oral Liquid on Indirect Bilirubin of Neonates With Glucose-6-phosphate Dehydrogenase Deficiency Unknown status NCT02594904 Phase 4 Yinzhihuang Oral Liquid
3 Efficacy of High-dose Intravenous Immunoglobulin Therapy for Hyperbilirubinemia Due Rh Hemolytic Disease Completed NCT00288600 Phase 4 Intravenous Immunoglobulin;Normal saline solution
4 Efficacy and Safety of Stannsoporfin in Neonates Completed NCT02685137 Phase 3 stannsoporfin
5 Efficacy and Safety of Probiotics in Neonatal Hyperbilirubinemia Recruiting NCT03266913 Phase 3 Probiotic
6 New Phototherapy Device to Treat Patients With Crigler-Najjar Disease Unknown status NCT02356978 Not Applicable
7 Resting State Functional Magnetic Resonance Imaging Study of Jaundice Infants Before and After Light Treatment. Unknown status NCT02224586
8 Does Maternal Instruction Prevent Kernicterus in Nigeria? Completed NCT02713464 Not Applicable
9 Determining Prevalence of Acute Bilirubin Encephalopathy in Developing Countries Completed NCT01754688
10 Follow-up of Extreme Neonatal Hyperbilirubinemia in 5-10 Year Old Children: a Danish Population Based Study Completed NCT01599611
11 Implementation of a Transcutaneous Bilirubinometer Completed NCT01622699 Not Applicable
12 Clinical and Developmental Outcomes of Babies Who Became Yellow in the First Month of Life Completed NCT02927093
13 Multi-center Clinical Study on Neonatal Hyperbilirubinemia Recruiting NCT03824990 Not Applicable
14 Bilirubin Binding Capacity to Assess Bilirubin Load in Preterm Infants Recruiting NCT02691156
15 Complications of Exchange Transfusion in Neonates Not yet recruiting NCT03195049 Not Applicable
16 Fluid in Neonatal Hyperbilirubinemia Not yet recruiting NCT03684499 Not Applicable
17 Evaluation of Long-Term Gait Development in Infants With Neonatal Encephalopathy Using Infant Treadmill Not yet recruiting NCT03534466 Not Applicable
18 Evaluation of Long-term Neurodevelopment in Neonatal Encephalopathy by Infant Treadmill Not yet recruiting NCT03527498 Not Applicable

Search NIH Clinical Center for Kernicterus

Cochrane evidence based reviews: kernicterus

Genetic Tests for Kernicterus

Anatomical Context for Kernicterus

MalaCards organs/tissues related to Kernicterus:

42
Brain, Skin, Liver, Eye, Globus Pallidus, Breast, Cortex

Publications for Kernicterus

Articles related to Kernicterus:

(show top 50) (show all 458)
# Title Authors Year
1
Characteristics and outcome of newborn admitted with acute bilirubin encephalopathy to a tertiary neonatal intensive care unit. ( 30406356 )
2019
2
The Neonatal Acute Bilirubin Encephalopathy Registry (NABER): Background, Aims, and Protocol. ( 30669144 )
2019
3
Bilirubin encephalopathy (kernicterus) in an adult cat. ( 30944725 )
2019
4
Clinicopathological Spectrum of Bilirubin Encephalopathy/Kernicterus. ( 30823396 )
2019
5
Vertical Gaze Palsy in Kernicterus. ( 31064023 )
2019
6
Rates of Extreme Neonatal Hyperbilirubinemia and Kernicterus in Children and Adherence to National Guidelines for Screening, Diagnosis, and Treatment in Sweden. ( 30901042 )
2019
7
Kernicterus. ( 30863731 )
2019
8
Newborn Metabolic Profile Associated with Hyperbilirubinemia With and Without Kernicterus. ( 30369069 )
2019
9
Learning from claims: hyperbilirubinaemia and kernicterus. ( 29802103 )
2019
10
Patterns of acute bilirubin encephalopathy in Nigeria: a multicenter pre-intervention study. ( 29593357 )
2018
11
Extreme neonatal hyperbilirubinemia, acute bilirubin encephalopathy, and kernicterus spectrum disorder in children with galactosemia. ( 29892033 )
2018
12
Emergency release uncross-matched packed red blood cells for immediate double volume exchange transfusion in neonates with intermediate to advanced acute bilirubin encephalopathy: timely but insufficient? ( 29997396 )
2018
13
MRI of bilirubin encephalopathy (kernicterus): A case series of 4 patients from Sub-Saharan Africa, May 2017. ( 30046365 )
2018
14
Acute neonatal bilirubin encephalopathy in the State of Utah 2009-2018. ( 29880417 )
2018
15
Neuroprotective Effect of ω-3 Polyunsaturated Fatty Acids on Bilirubin Encephalopathy In Vitro and In Vivo. ( 29704452 )
2018
16
Corrigendum to "A new rat model of neonatal bilirubin encephalopathy (kernicterus)" [J. Pharmacol. Toxicol. Methods 84 (2017) 44-50]. ( 29534860 )
2018
17
Adding neonatal hyperbilirubinemia/bilirubin encephalopathy to the American Society for Apheresis Guidelines on Therapeutic Apheresis. ( 29193228 )
2018
18
Adding neonatal hyperbilirubinemia/bilirubin encephalopathy to the American Society for Apheresis Guidelines on Therapeutic Apheresis. ( 29193232 )
2018
19
Kernicterus with abnormal high-signal changes bilaterally in the globus pallidus: A case report. ( 30488686 )
2018
20
A Case Report of Kernicterus in a Neonate with Hemolytic Disease of Newborn-Lessons to Learn. ( 29778298 )
2018
21
Low bilirubin kernicterus in OTC deficiency. ( 29250829 )
2018
22
Follow-up of Children with Kernicterus in Kano, Nigeria. ( 28605485 )
2018
23
Newborn Bilirubin Screening for Preventing Severe Hyperbilirubinemia and Bilirubin Encephalopathy: A Rapid Review. ( 28071585 )
2017
24
A new rat model of neonatal bilirubin encephalopathy (kernicterus). ( 27746217 )
2017
25
Maternal Empowerment - An Underutilized Strategy to Prevent Kernicterus? ( 28847288 )
2017
26
Kernicterus in a boy with ornithine transcarbamylase deficiency: A case report. ( 28815739 )
2017
27
The Neurological Sequelae of Neonatal Hyperbilirubinemia: Definitions, Diagnosis and Treatment of the Kernicterus Spectrum Disorders (KSDs). ( 28814249 )
2017
28
Refractory Causes of Kernicterus in Developed Countries: Can We Eradicate G6PD Deficiency Triggered and Low-Bilirubin Kernicterus? ( 28721814 )
2017
29
The use of therapeutic plasma exchange to reduce serum bilirubin in a dog with kernicterus. ( 28605161 )
2017
30
Magnetic Resonance Imaging Abnormalities in Advanced Acute Bilirubin Encephalopathy Highlight Dentato-Thalamo-Cortical Pathways. ( 27113379 )
2016
31
A Hypothesis for Using Pathway Genetic Load Analysis for Understanding Complex Outcomes in Bilirubin Encephalopathy. ( 27587993 )
2016
32
Efficacy of Human Adipose Tissue-Derived Stem Cells on Neonatal Bilirubin Encephalopathy in Rats. ( 26818600 )
2016
33
Chronic kernicterus: magnetic resonance imaging findings. ( 28057969 )
2016
34
Glucose-6-Phosphate Dehydrogenase Deficiency and the Need for a Novel Treatment to Prevent Kernicterus. ( 27235212 )
2016
35
Kernicterus in Neonatal Jaundice--Finding the Needle in the Haystack. ( 26945202 )
2016
36
Bilirubin Encephalopathy in a Domestic Shorthair Cat With Increased Osmotic Fragility and Cholangiohepatitis. ( 26354310 )
2016
37
Risk factors for acute bilirubin encephalopathy on admission to two Myanmar national paediatric hospitals. ( 27057339 )
2015
38
Galactosaemia: an unusual cause of chronic bilirubin encephalopathy. ( 25618877 )
2015
39
The Blockade of NF-κB Activation by a Specific Inhibitory Peptide Has a Strong Neuroprotective Role in a Sprague-Dawley Rat Kernicterus Model. ( 26499797 )
2015
40
Current incidence of clinical kernicterus in preterm infants in Japan. ( 26113317 )
2015
41
Brain magnetic resonance imaging and magnetic resonance spectroscopy findings of children with kernicterus. ( 25745520 )
2015
42
Serum unbound bilirubin as a predictor for clinical kernicterus in extremely low birth weight infants at a late age in the neonatal intensive care unit. ( 25638486 )
2015
43
Apnea in acute bilirubin encephalopathy. ( 25239473 )
2014
44
The enigma of low bilirubin kernicterus in premature infants: why does it still occur, and is it preventable? ( 25267279 )
2014
45
Why is kernicterus still a major cause of death and disability in low-income and middle-income countries? ( 25123403 )
2014
46
A novel newborn rat kernicterus model created by injecting a bilirubin solution into the cisterna magna. ( 24796550 )
2014
47
Prevention of Kernicterus in South Asia: role of neonatal G6PD deficiency and its identification. ( 24763814 )
2014
48
What causes increased expression of VEGF and VEGF-R in a case report? Comment on: "New autopsy findings in different brain regions of a preterm neonate with kernicterus: neurovascular alterations and up-regulation of efflux transporters". ( 24739376 )
2014
49
Cotrimoxazole and neonatal kernicterus: a review. ( 24099411 )
2014
50
Magnetic resonance imaging of bilirubin encephalopathy: current limitations and future promise. ( 25267277 )
2014

Variations for Kernicterus

Expression for Kernicterus

Search GEO for disease gene expression data for Kernicterus.

Pathways for Kernicterus

Pathways related to Kernicterus according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.74 ALB G6PD PKM SLC4A1 UGT1A1 UGT1A6
2
Show member pathways
12.54 UGT1A1 UGT1A6 UGT1A8 UGT1A9
3
Show member pathways
12.11 UGT1A1 UGT1A6 UGT1A8 UGT1A9
4 11.83 G6PD UGT1A1 UGT1A6 UGT1A9
5 11.59 G6PD PKM UGT1A1 UGT1A6 UGT1A8 UGT1A9
6
Show member pathways
11.46 UGT1A1 UGT1A6 UGT1A9
7
Show member pathways
11.46 UGT1A1 UGT1A6 UGT1A8 UGT1A9
8 11.34 G6PD PKM
9 11.29 UGT1A1 UGT1A6 UGT1A9
10
Show member pathways
11.28 UGT1A1 UGT1A6 UGT1A8 UGT1A9
11 11.09 UGT1A1 UGT1A6 UGT1A9
12 10.82 UGT1A6 UGT1A8 UGT1A9
13
Show member pathways
10.79 UGT1A1 UGT1A6 UGT1A8 UGT1A9

GO Terms for Kernicterus

Cellular components related to Kernicterus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.46 UGT1A1 UGT1A6 UGT1A8 UGT1A9
2 endoplasmic reticulum GO:0005783 9.35 ALB UGT1A1 UGT1A6 UGT1A8 UGT1A9
3 intracellular membrane-bounded organelle GO:0043231 9.02 G6PD UGT1A1 UGT1A6 UGT1A8 UGT1A9

Biological processes related to Kernicterus according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cellular glucuronidation GO:0052695 9.5 UGT1A1 UGT1A6 UGT1A9
2 negative regulation of catalytic activity GO:0043086 9.49 UGT1A1 UGT1A8
3 glucose metabolic process GO:0006006 9.48 G6PD PKM
4 animal organ regeneration GO:0031100 9.46 PKM UGT1A1
5 ammonium transmembrane transport GO:0072488 9.43 RHCE RHD
6 retinoic acid metabolic process GO:0042573 9.43 UGT1A1 UGT1A8 UGT1A9
7 ammonium transport GO:0015696 9.4 RHCE RHD
8 negative regulation of steroid metabolic process GO:0045939 9.37 UGT1A1 UGT1A8
9 flavone metabolic process GO:0051552 9.33 UGT1A1 UGT1A8 UGT1A9
10 xenobiotic glucuronidation GO:0052697 9.26 UGT1A1 UGT1A6 UGT1A8 UGT1A9
11 flavonoid glucuronidation GO:0052696 8.92 UGT1A1 UGT1A6 UGT1A8 UGT1A9

Molecular functions related to Kernicterus according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.91 PKM UGT1A1 UGT1A6 UGT1A8 UGT1A9
2 protein homodimerization activity GO:0042803 9.8 G6PD SLC4A1 UGT1A1 UGT1A6 UGT1A8 UGT1A9
3 protein heterodimerization activity GO:0046982 9.73 UGT1A1 UGT1A6 UGT1A8 UGT1A9
4 transferase activity, transferring glycosyl groups GO:0016757 9.67 UGT1A1 UGT1A6 UGT1A8 UGT1A9
5 transferase activity, transferring hexosyl groups GO:0016758 9.56 UGT1A1 UGT1A6 UGT1A8 UGT1A9
6 enzyme inhibitor activity GO:0004857 9.49 UGT1A1 UGT1A8
7 steroid binding GO:0005496 9.48 UGT1A1 UGT1A8
8 fatty acid binding GO:0005504 9.46 ALB UGT1A8
9 glucuronosyltransferase activity GO:0015020 9.46 UGT1A1 UGT1A6 UGT1A8 UGT1A9
10 ammonium transmembrane transporter activity GO:0008519 9.4 RHCE RHD
11 retinoic acid binding GO:0001972 9.26 UGT1A1 UGT1A6 UGT1A8 UGT1A9
12 UDP-glycosyltransferase activity GO:0008194 8.92 UGT1A1 UGT1A6 UGT1A8 UGT1A9

Sources for Kernicterus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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