MCID: KRN004
MIFTS: 48

Kernicterus

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

Aliases & Classifications for Kernicterus

MalaCards integrated aliases for Kernicterus:

Name: Kernicterus 12 72 49 55 51 3 41 14 69
Bilirubin Encephalopathy 12 49 55
Hyperbilirubinemic Encephalopathy 49

Characteristics:

Orphanet epidemiological data:

55
bilirubin encephalopathy
Inheritance: Not applicable; Age of onset: Neonatal;

Classifications:



External Ids:

Disease Ontology 12 DOID:2382
ICD10 32 P57 P57.9 P57.8
MeSH 41 D007647
NCIt 46 C84799
Orphanet 55 ORPHA415286
UMLS via Orphanet 70 C0022610
ICD10 via Orphanet 33 P57.9
UMLS 69 C0022610

Summaries for Kernicterus

NIH Rare Diseases : 49 Kernicterus is a rare condition that affects the brain. It refers to a form of brain damage that occurs when neonatal jaundice goes untreated for too long. The severity of the condition and the associated signs and symptoms vary significantly from person to person. People living with kernicterus may experience athetoid cerebral palsy, hearing loss, intellectual disability, vision abnormalities, and behavioral difficulties. Approximately 60% of all newborn babies will have jaundice, a condition that is characterized by high level of bilirubin in the blood. 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. Early detection and management of jaundice can prevent kernicterus. Last updated: 3/16/2016

MalaCards based summary : Kernicterus, also known as bilirubin encephalopathy, is related to neonatal jaundice and crigler-najjar syndrome, type ii, 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, skin and globus pallidus.

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

Wikipedia : 72 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 51)
# Related Disease Score Top Affiliating Genes
1 neonatal jaundice 32.2 G6PD UGT1A1
2 crigler-najjar syndrome, type ii 31.2 UGT1A1 UGT1A4 UGT1A6 UGT1A9
3 crigler-najjar syndrome, type i 30.6 SLC35A2 UGT1A1 UGT1A4 UGT1A6 UGT1A9
4 glucosephosphate dehydrogenase deficiency 30.5 G6PD UGT1A1
5 blood group incompatibility 30.2 G6PD SLC4A1
6 hereditary spherocytosis 29.5 G6PD SLC4A1 UGT1A1
7 bilirubin metabolic disorder 28.4 ALB G6PD PKM SLC35A2 UGT1A1 UGT1A6
8 kernicterus due to isoimmunization 12.2
9 hyperbilirubinemia, transient familial neonatal 10.9
10 encephalopathy 10.2
11 koro 10.1 ALB G6PD
12 parotitis 10.1 ALB G6PD
13 choledocholithiasis 10.1 ALB UGT1A1
14 sickle cell disease 10.1 G6PD UGT1A1
15 dihydropyrimidine dehydrogenase deficiency 10.0 UGT1A1 UGT1A6
16 senile cataract 10.0 ALB G6PD
17 blood group, i system 10.0
18 leukocyte disease 10.0 ALB UGT1A1
19 branchiootic syndrome 1 10.0
20 brain injury 10.0
21 cerebritis 10.0
22 pyruvate kinase deficiency of red cells 9.9 G6PD PKM
23 aging 9.9
24 hepatitis 9.9
25 neuronitis 9.9
26 sickle cell anemia 9.8 G6PD UGT1A1 UGT1A6
27 inherited metabolic disorder 9.8 UGT1A1 UGT1A6
28 acetaminophen metabolism 9.8 UGT1A1 UGT1A6 UGT1A9
29 descending colon cancer 9.7 SLC35A2 UGT1A1 UGT1A6
30 cholelithiasis 9.7 ALB UGT1A1 UGT1A6
31 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.7
32 rheumatic fever-related antigen 9.7
33 cerebral palsy 9.7
34 hemolytic anemia 9.7
35 congenital hypothyroidism 9.7
36 aphasia 9.7
37 beriberi 9.7
38 hypothyroidism 9.7
39 rheumatic fever 9.7
40 viral hepatitis 9.7
41 congenital hemolytic anemia 9.7
42 central pontine myelinolysis 9.7
43 athetosis 9.7
44 cerebral palsy athetoid 9.7
45 anoxia 9.7
46 endotheliitis 9.7
47 ring chromosome y syndrome 9.7
48 fulminant viral hepatitis 9.7
49 metabolic acidosis 9.7 ALB SLC4A1
50 pigmentation disease 9.5 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

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
2
Bilirubin Phase 4 635-65-4 5280352
3 Pharmaceutical Solutions Phase 4
4 Protective Agents Phase 4
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 2216-51-5 16666
13
Carbon monoxide Approved, Investigational 630-08-0 281
14 Antimetabolites
15 Neurotransmitter Agents

Interventional clinical trials:

(show all 14)

# 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
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 Clinical and Developmental Outcomes of Babies Who Became Yellow in the First Month of Life Completed NCT02927093
11 Implementation of a Transcutaneous Bilirubinometer Completed NCT01622699
12 New Phototherapy Device to Treat Patients With Crigler-Najjar Disease Recruiting NCT02356978
13 Bilirubin Binding Capacity to Assess Bilirubin Load in Preterm Infants Recruiting NCT02691156
14 Complications of Exchange Transfusion in Neonates Not yet recruiting NCT03195049

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:

38
Brain, Skin, Globus Pallidus, Breast, Liver, Endothelial

Publications for Kernicterus

Articles related to Kernicterus:

(show top 50) (show all 353)
# Title Authors Year
1
Low bilirubin kernicterus in OTC deficiency. ( 29250829 )
2018
2
Refractory Causes of Kernicterus in Developed Countries: Can We Eradicate G6PD Deficiency Triggered and Low-Bilirubin Kernicterus? ( 28721814 )
2017
3
Maternal Empowerment - an underutilized strategy to prevent kernicterus? ( 28847288 )
2017
4
Follow-up of Children with Kernicterus in Kano, Nigeria. ( 28605485 )
2017
5
The Neurological Sequelae of Neonatal Hyperbilirubinemia: Definitions, Diagnosis and Treatment of the Kernicterus Spectrum Disorders (KSDs). ( 28814249 )
2017
6
The use of therapeutic plasma exchange to reduce serum bilirubin in a dog with kernicterus. ( 28605161 )
2017
7
Kernicterus in a boy with ornithine transcarbamylase deficiency: A case report. ( 28815739 )
2017
8
Kernicterus in Neonatal Jaundice-Finding the Needle in the Haystack. ( 26945202 )
2016
9
Glucose-6-Phosphate Dehydrogenase Deficiency and the Need for a Novel Treatment to Prevent Kernicterus. ( 27235212 )
2016
10
A new rat model of neonatal bilirubin encephalopathy (kernicterus). ( 27746217 )
2016
11
Chronic kernicterus: magnetic resonance imaging findings. ( 28057969 )
2016
12
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
13
Brain magnetic resonance imaging and magnetic resonance spectroscopy findings of children with kernicterus. ( 25745520 )
2015
14
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
15
Current incidence of clinical kernicterus in preterm infants in Japan. ( 26113317 )
2015
16
The enigma of low bilirubin kernicterus in premature infants: Why does it still occur, and is it preventable? ( 25267279 )
2014
17
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
18
Why is kernicterus still a major cause of death and disability in low-income and middle-income countries? ( 25123403 )
2014
19
Prevention of Kernicterus in South Asia: role of neonatal G6PD deficiency and its identification. ( 24763814 )
2014
20
A novel newborn rat kernicterus model created by injecting a bilirubin solution into the cisterna magna. ( 24796550 )
2014
21
MRI findings in a dog with kernicterus. ( 23690488 )
2013
22
Acute kernicterus in a neonate with O/B blood group incompatibility and a mutation in SLC4A1. ( 23878048 )
2013
23
New autopsy findings in different brain regions of a preterm neonate with kernicterus: neurovascular alterations and up-regulation of efflux transporters. ( 24138949 )
2013
24
Cotrimoxazole and neonatal kernicterus: a review. ( 24099411 )
2013
25
Low bilirubin kernicterus with sepsis and hypoalbuminaemia. ( 23616313 )
2013
26
Jaundice and kernicterus in the moderately preterm infant. ( 24182955 )
2013
27
Use of the extended parallel processing model to evaluate culturally relevant kernicterus messages. ( 23237614 )
2013
28
Neonatal death suspected to be from sepsis was found to be kernicterus with G6PD deficiency. ( 24218468 )
2013
29
MRI findings in kernicterus. ( 22990632 )
2013
30
Medical education content required for kernicterus risk recognition. ( 23056881 )
2012
31
The Italian Registry of kernicterus and hyperbilirubinaemia. ( 22958040 )
2012
32
Cerebellar axon/myelin loss, angiogenic sprouting, and neuronal increase of vascular endothelial growth factor in a preterm infant with kernicterus. ( 22190497 )
2012
33
Cost-effectiveness analysis of a system-based approach for managing neonatal jaundice and preventing kernicterus in Ontario. ( 23277747 )
2012
34
Severe neonatal hyperbilirubinemia and kernicterus: are these still problems in the third millennium? ( 21968213 )
2011
35
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
36
Prevention of acute bilirubin encephalopathy and kernicterus in newborns: position statement #3049. ( 22123452 )
2011
37
Birth-related syndromes of athetosis and kernicterus. ( 21496597 )
2011
38
Evaluation of oxidant and antioxidant status in infants with hyperbilirubinemia and kernicterus. ( 21393350 )
2011
39
Evidence suggests there was not a "resurgence" of kernicterus in the 1990s. ( 21444599 )
2011
40
Prevention of acute bilirubin encephalopathy and kernicterus in newborns. Position Statement #3049. NANN Board of Directors, March 2010. ( 20505419 )
2010
41
Trends in hospitalizations for neonatal jaundice and kernicterus in the United States, 1988-2005. ( 19171618 )
2009
42
Neonatal hyperbilirubinemia and kernicterus - not gone but sometimes forgotten. ( 19833460 )
2009
43
Kernicterus in the 21st century: frequently asked questions. ( 19177056 )
2009
44
A proposal to prevent severe neonatal hyperbilirubinemia and kernicterus. ( 19177062 )
2009
45
Fatal kernicterus in a girl deficient in glucose-6-phosphate dehydrogenase: a paradigm of synergistic heterozygosity. ( 19324225 )
2009
46
Synopsis report from the pilot USA Kernicterus Registry. ( 19177058 )
2009
47
Changes in the globus pallidus in chronic kernicterus. ( 21887193 )
2009
48
Magnetic resonance imaging of bilateral mesial temporal sclerosis in chronic kernicterus. ( 21887194 )
2009
49
Kernicterus in preterm infants. ( 19433515 )
2009
50
Obstetric outcome in Danish children with a validated diagnosis of kernicterus. ( 19639464 )
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 20)
# 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 11.58 G6PD PKM UGT1A1 UGT1A4 UGT1A6 UGT1A9
8
Show member pathways
11.55 UGT1A1 UGT1A4 UGT1A6 UGT1A9
10
Show member pathways
11.47 UGT1A1 UGT1A4 UGT1A9
11
Show member pathways
11.45 UGT1A1 UGT1A4 UGT1A6 UGT1A9
12
Show member pathways
11.41 UGT1A1 UGT1A4 UGT1A6 UGT1A9
13 11.39 G6PD PKM
14 11.3 UGT1A1 UGT1A4 UGT1A6 UGT1A9
15
Show member pathways
10.99 UGT1A1 UGT1A4 UGT1A6 UGT1A9
16 10.98 UGT1A4 UGT1A6 UGT1A9
17
Show member pathways
10.89 UGT1A1 UGT1A9
18 10.76 UGT1A1 UGT1A4 UGT1A6 UGT1A9
19
Show member pathways
10.75 UGT1A4 UGT1A9
20 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 intracellular membrane-bounded organelle GO:0043231 9.35 G6PD UGT1A1 UGT1A4 UGT1A6 UGT1A9
4 endoplasmic reticulum GO:0005783 9.1 ALB SLC35A2 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 flavonoid glucuronidation GO:0052696 9.26 UGT1A1 UGT1A4 UGT1A6 UGT1A9
11 xenobiotic glucuronidation GO:0052697 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 9.8 PKM UGT1A1 UGT1A4 UGT1A6 UGT1A9
2 protein homodimerization activity GO:0042803 9.73 G6PD SLC4A1 UGT1A1 UGT1A4 UGT1A6 UGT1A9
3 protein heterodimerization activity GO:0046982 9.67 UGT1A1 UGT1A4 UGT1A6 UGT1A9
4 transferase activity, transferring glycosyl groups GO:0016757 9.62 UGT1A1 UGT1A4 UGT1A6 UGT1A9
5 transferase activity, transferring hexosyl groups GO:0016758 9.46 UGT1A1 UGT1A4 UGT1A6 UGT1A9
6 glucuronosyltransferase activity GO:0015020 9.26 UGT1A1 UGT1A4 UGT1A6 UGT1A9
7 retinoic acid binding GO:0001972 8.92 UGT1A1 UGT1A4 UGT1A6 UGT1A9

Sources for Kernicterus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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