MCID: KRN004
MIFTS: 48

Kernicterus

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

Aliases & Classifications for Kernicterus

MalaCards integrated aliases for Kernicterus:

Name: Kernicterus 12 76 53 59 55 3 44 15 73
Bilirubin Encephalopathy 12 53 59
Kernicterus Spectrum Disorder 53 59
Hyperbilirubinemic Encephalopathy 53

Characteristics:

Orphanet epidemiological data:

59
kernicterus spectrum disorder
Inheritance: Not applicable; Age of onset: Neonatal;

Classifications:



External Ids:

Disease Ontology 12 DOID:2382
ICD10 33 P57 P57.9 P57.8
MeSH 44 D007647
NCIt 50 C84799
Orphanet 59 ORPHA415286
ICD10 via Orphanet 34 P57.9
UMLS via Orphanet 74 C0022610
UMLS 73 C0022610

Summaries for Kernicterus

NIH Rare Diseases : 53 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 Cytochrome P450 - arranged by substrate type. The drugs Antioxidants and Bilirubin have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and eye, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

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

Wikipedia : 76 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 all 49)
# Related Disease Score Top Affiliating Genes
1 neonatal jaundice 32.3 G6PD UGT1A1
2 crigler-najjar syndrome, type i 30.8 UGT1A1 UGT1A4 UGT1A6 UGT1A9
3 glucosephosphate dehydrogenase deficiency 30.8 G6PD UGT1A1
4 crigler-najjar syndrome, type ii 30.8 UGT1A1 UGT1A4 UGT1A6 UGT1A9
5 blood group incompatibility 29.6 G6PD RHCE SLC4A1
6 hereditary spherocytosis 29.5 G6PD SLC4A1 UGT1A1
7 kernicterus due to isoimmunization 12.2
8 hyperbilirubinemia, transient familial neonatal 10.9
9 encephalopathy 10.3
10 choledocholithiasis 10.1 ALB UGT1A1
11 descending colon cancer 10.1 UGT1A1 UGT1A6
12 dihydropyrimidine dehydrogenase deficiency 10.1 UGT1A1 UGT1A6
13 senile cataract 10.1 ALB G6PD
14 leukocyte disease 10.0 ALB UGT1A1
15 fetal erythroblastosis 10.0 ALB RHCE
16 brain injury 10.0
17 cerebritis 10.0
18 rh isoimmunization 9.9 ALB RHCE
19 aging 9.9
20 hepatitis 9.9
21 neuronitis 9.9
22 pyruvate kinase deficiency of red cells 9.9 G6PD PKM
23 sickle cell anemia 9.8 UGT1A1 UGT1A6
24 galactosemia 9.7
25 rheumatic fever-related antigen 9.7
26 cerebral palsy 9.7
27 hemolytic anemia 9.7
28 congenital hypothyroidism 9.7
29 aphasia 9.7
30 beriberi 9.7
31 hypothyroidism 9.7
32 rheumatic fever 9.7
33 viral hepatitis 9.7
34 congenital hemolytic anemia 9.7
35 central pontine myelinolysis 9.7
36 athetosis 9.7
37 cerebral palsy athetoid 9.7
38 neonatal hypothyroidism 9.7
39 anoxia 9.7
40 endotheliitis 9.7
41 fulminant viral hepatitis 9.7
42 inherited metabolic disorder 9.7 UGT1A1 UGT1A6
43 acetaminophen metabolism 9.6 UGT1A1 UGT1A6 UGT1A9
44 cholelithiasis 9.6 ALB UGT1A1 UGT1A6
45 metabolic acidosis 9.5 ALB SLC4A1
46 bilirubin, serum level of, quantitative trait locus 1 9.3 UGT1A1 UGT1A4 UGT1A6 UGT1A9
47 pigmentation disease 9.2 PKM UGT1A1 UGT1A6
48 gilbert syndrome 8.9 G6PD UGT1A1 UGT1A4 UGT1A6 UGT1A9
49 bilirubin metabolic disorder 8.2 ALB G6PD PKM UGT1A1 UGT1A6

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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.1 RHCE
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.1 RHCE
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.1 RHCE SLC4A1 UGT1A1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.1 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 Antioxidants Phase 4,Not Applicable
2
Bilirubin Phase 4,Not Applicable 635-65-4 5280352
3 Pharmaceutical Solutions Phase 4
4 Protective Agents Phase 4,Not Applicable
5 Antibodies Phase 4
6 gamma-Globulins Phase 4
7 Immunoglobulins Phase 4
8 Immunoglobulins, Intravenous Phase 4
9 Rho(D) Immune Globulin Phase 4
10
Tin Phase 3 7440-31-5
11 Tin mesoporphyrin Phase 3
12
Menthol Approved Not Applicable 2216-51-5 16666
13
Carbon monoxide Approved, Investigational 630-08-0 281
14 Antimetabolites
15 Neurotransmitter Agents

Interventional clinical trials:

(show all 16)
# 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 Resting State Functional Magnetic Resonance Imaging Study of Jaundice Infants Before and After Light Treatment. Unknown status NCT02224586
7 Does Maternal Instruction Prevent Kernicterus in Nigeria? Completed NCT02713464 Not Applicable
8 Determining Prevalence of Acute Bilirubin Encephalopathy in Developing Countries Completed NCT01754688
9 Follow-up of Extreme Neonatal Hyperbilirubinemia in 5-10 Year Old Children: a Danish Population Based Study Completed NCT01599611
10 Implementation of a Transcutaneous Bilirubinometer Completed NCT01622699 Not Applicable
11 Clinical and Developmental Outcomes of Babies Who Became Yellow in the First Month of Life Completed NCT02927093
12 New Phototherapy Device to Treat Patients With Crigler-Najjar Disease Recruiting NCT02356978 Not Applicable
13 Bilirubin Binding Capacity to Assess Bilirubin Load in Preterm Infants Recruiting NCT02691156
14 Complications of Exchange Transfusion in Neonates Not yet recruiting NCT03195049 Not Applicable
15 Evaluation of Long-Term Gait Development in Infants With Neonatal Encephalopathy Using Infant Treadmill Not yet recruiting NCT03534466 Not Applicable
16 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:

41
Brain, Liver, Eye, Skin, Globus Pallidus, Endothelial

Publications for Kernicterus

Articles related to Kernicterus:

(show top 50) (show all 363)
# Title Authors Year
1
Low bilirubin kernicterus in OTC deficiency. ( 29250829 )
2018
2
Corrigendum to &amp;quot;A new rat model of neonatal bilirubin encephalopathy (kernicterus)&amp;quot; [J. Pharmacol. Toxicol. Methods 84 (2017) 44-50]. ( 29534860 )
2018
3
Learning from claims: hyperbilirubinaemia and kernicterus. ( 29802103 )
2018
4
A Case Report of Kernicterus in a Neonate with Hemolytic Disease of Newborn-Lessons to Learn. ( 29778298 )
2018
5
Extreme neonatal hyperbilirubinemia, acute bilirubin encephalopathy, and kernicterus spectrum disorder in children with galactosemia. ( 29892033 )
2018
6
The Neurological Sequelae of Neonatal Hyperbilirubinemia: Definitions, Diagnosis and Treatment of the Kernicterus Spectrum Disorders (KSDs). ( 28814249 )
2017
7
Kernicterus in a boy with ornithine transcarbamylase deficiency: A case report. ( 28815739 )
2017
8
Follow-up of Children with Kernicterus in Kano, Nigeria. ( 28605485 )
2017
9
Refractory Causes of Kernicterus in Developed Countries: Can We Eradicate G6PD Deficiency Triggered and Low-Bilirubin Kernicterus? ( 28721814 )
2017
10
The use of therapeutic plasma exchange to reduce serum bilirubin in a dog with kernicterus. ( 28605161 )
2017
11
Maternal Empowerment - an underutilized strategy to prevent kernicterus? ( 28847288 )
2017
12
Chronic kernicterus: magnetic resonance imaging findings. ( 28057969 )
2016
13
A new rat model of neonatal bilirubin encephalopathy (kernicterus). ( 27746217 )
2016
14
Kernicterus in Neonatal Jaundice-Finding the Needle in the Haystack. ( 26945202 )
2016
15
Glucose-6-Phosphate Dehydrogenase Deficiency and the Need for a Novel Treatment to Prevent Kernicterus. ( 27235212 )
2016
16
Brain magnetic resonance imaging and magnetic resonance spectroscopy findings of children with kernicterus. ( 25745520 )
2015
17
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
18
The Blockade of NF-I_B Activation by a Specific Inhibitory Peptide has a Strong Neuroprotective Role in a Sprague-Dawley Rat Kernicterus Model. ( 26499797 )
2015
19
Current incidence of clinical kernicterus in preterm infants in Japan. ( 26113317 )
2015
20
A novel newborn rat kernicterus model created by injecting a bilirubin solution into the cisterna magna. ( 24796550 )
2014
21
Why is kernicterus still a major cause of death and disability in low-income and middle-income countries? ( 25123403 )
2014
22
The enigma of low bilirubin kernicterus in premature infants: Why does it still occur, and is it preventable? ( 25267279 )
2014
23
Prevention of Kernicterus in South Asia: role of neonatal G6PD deficiency and its identification. ( 24763814 )
2014
24
What causes increased expression of VEGF and VEGF-R in a case report? Comment on: &amp;quot;New autopsy findings in different brain regions of a preterm neonate with kernicterus: neurovascular alterations and up-regulation of efflux transporters&amp;quot;. ( 24739376 )
2014
25
Acute kernicterus in a neonate with O/B blood group incompatibility and a mutation in SLC4A1. ( 23878048 )
2013
26
Low bilirubin kernicterus with sepsis and hypoalbuminaemia. ( 23616313 )
2013
27
Neonatal death suspected to be from sepsis was found to be kernicterus with G6PD deficiency. ( 24218468 )
2013
28
Use of the extended parallel processing model to evaluate culturally relevant kernicterus messages. ( 23237614 )
2013
29
Cotrimoxazole and neonatal kernicterus: a review. ( 24099411 )
2013
30
MRI findings in a dog with kernicterus. ( 23690488 )
2013
31
Jaundice and kernicterus in the moderately preterm infant. ( 24182955 )
2013
32
New autopsy findings in different brain regions of a preterm neonate with kernicterus: neurovascular alterations and up-regulation of efflux transporters. ( 24138949 )
2013
33
MRI findings in kernicterus. ( 22990632 )
2013
34
Medical education content required for kernicterus risk recognition. ( 23056881 )
2012
35
Cost-effectiveness analysis of a system-based approach for managing neonatal jaundice and preventing kernicterus in Ontario. ( 23277747 )
2012
36
The Italian Registry of kernicterus and hyperbilirubinaemia. ( 22958040 )
2012
37
Cerebellar axon/myelin loss, angiogenic sprouting, and neuronal increase of vascular endothelial growth factor in a preterm infant with kernicterus. ( 22190497 )
2012
38
Evaluation of oxidant and antioxidant status in infants with hyperbilirubinemia and kernicterus. ( 21393350 )
2011
39
Prevention of acute bilirubin encephalopathy and kernicterus in newborns: position statement #3049. ( 22123452 )
2011
40
Evidence suggests there was not a &amp;quot;resurgence&amp;quot; of kernicterus in the 1990s. ( 21444599 )
2011
41
Are recommended phototherapy thresholds safe enough for extremely low birth weight (ELBW) infants? A report on 2 ELBW infants with kernicterus despite only moderate hyperbilirubinemia. ( 20639681 )
2011
42
Severe neonatal hyperbilirubinemia and kernicterus: are these still problems in the third millennium? ( 21968213 )
2011
43
Birth-related syndromes of athetosis and kernicterus. ( 21496597 )
2011
44
Prevention of acute bilirubin encephalopathy and kernicterus in newborns. Position Statement #3049. NANN Board of Directors, March 2010. ( 20505419 )
2010
45
Obstetric outcome in Danish children with a validated diagnosis of kernicterus. ( 19639464 )
2009
46
Severe hyperbilirubinaemia and kernicterus: more caution is needed in newborn jaundice surveillance. ( 19772008 )
2009
47
Changes in the globus pallidus in chronic kernicterus. ( 21887193 )
2009
48
Clinical report from the pilot USA Kernicterus Registry (1992 to 2004). ( 19177057 )
2009
49
Trends in hospitalizations for neonatal jaundice and kernicterus in the United States, 1988-2005. ( 19171618 )
2009
50
A proposal to prevent severe neonatal hyperbilirubinemia and kernicterus. ( 19177062 )
2009

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 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.76 ALB G6PD PKM SLC4A1 UGT1A1 UGT1A4
2
Show member pathways
12.89 UGT1A1 UGT1A4 UGT1A6 UGT1A9
3
Show member pathways
12.55 UGT1A1 UGT1A4 UGT1A6 UGT1A9
4
Show member pathways
12.15 UGT1A1 UGT1A4 UGT1A6 UGT1A9
5 11.82 G6PD UGT1A1 UGT1A4 UGT1A6 UGT1A9
6
Show member pathways
11.66 UGT1A1 UGT1A4 UGT1A6 UGT1A9
7 11.59 G6PD PKM UGT1A1 UGT1A4 UGT1A6 UGT1A9
8
Show member pathways
11.55 UGT1A1 UGT1A4 UGT1A6 UGT1A9
9
Show member pathways
11.47 UGT1A1 UGT1A4 UGT1A9
10
Show member pathways
11.45 UGT1A1 UGT1A4 UGT1A6 UGT1A9
11
Show member pathways
11.41 UGT1A1 UGT1A4 UGT1A6 UGT1A9
12 11.39 G6PD PKM
13 11.3 UGT1A1 UGT1A4 UGT1A6 UGT1A9
14
Show member pathways
10.99 UGT1A1 UGT1A4 UGT1A6 UGT1A9
15 10.98 UGT1A4 UGT1A6 UGT1A9
16
Show member pathways
10.95 UGT1A1 UGT1A9
17 10.76 UGT1A1 UGT1A4 UGT1A6 UGT1A9
18
Show member pathways
10.75 UGT1A4 UGT1A9
19 10.68 UGT1A4 UGT1A9

GO Terms for Kernicterus

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.63 ALB G6PD PKM SLC4A1 UGT1A6 UGT1A9
2 endoplasmic reticulum membrane GO:0005789 9.56 UGT1A1 UGT1A4 UGT1A6 UGT1A9
3 endoplasmic reticulum GO:0005783 9.35 ALB UGT1A1 UGT1A4 UGT1A6 UGT1A9
4 intracellular membrane-bounded organelle GO:0043231 9.02 G6PD UGT1A1 UGT1A4 UGT1A6 UGT1A9

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.72 PKM UGT1A1 UGT1A4 UGT1A6 UGT1A9
2 response to nutrient GO:0007584 9.49 PKM UGT1A1
3 glucose metabolic process GO:0006006 9.48 G6PD PKM
4 animal organ regeneration GO:0031100 9.46 PKM UGT1A1
5 cellular glucuronidation GO:0052695 9.46 UGT1A1 UGT1A4 UGT1A6 UGT1A9
6 retinoic acid metabolic process GO:0042573 9.43 UGT1A1 UGT1A9
7 heme catabolic process GO:0042167 9.4 UGT1A1 UGT1A4
8 flavone metabolic process GO:0051552 9.37 UGT1A1 UGT1A9
9 bilirubin conjugation GO:0006789 9.26 UGT1A1 UGT1A4
10 xenobiotic glucuronidation GO:0052697 9.26 UGT1A1 UGT1A4 UGT1A6 UGT1A9
11 flavonoid glucuronidation GO:0052696 8.92 UGT1A1 UGT1A4 UGT1A6 UGT1A9

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.83 PKM UGT1A1 UGT1A4 UGT1A6 UGT1A9
2 protein homodimerization activity GO:0042803 9.8 G6PD SLC4A1 UGT1A1 UGT1A4 UGT1A6 UGT1A9
3 protein heterodimerization activity GO:0046982 9.71 UGT1A1 UGT1A4 UGT1A6 UGT1A9
4 transferase activity, transferring glycosyl groups GO:0016757 9.67 UGT1A1 UGT1A4 UGT1A6 UGT1A9
5 transferase activity, transferring hexosyl groups GO:0016758 9.56 UGT1A1 UGT1A4 UGT1A6 UGT1A9
6 glucuronosyltransferase activity GO:0015020 9.46 UGT1A1 UGT1A4 UGT1A6 UGT1A9
7 retinoic acid binding GO:0001972 9.26 UGT1A1 UGT1A4 UGT1A6 UGT1A9
8 UDP-glycosyltransferase activity GO:0008194 8.92 UGT1A1 UGT1A4 UGT1A6 UGT1A9

Sources for Kernicterus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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