MCID: KRN004
MIFTS: 46

Kernicterus malady

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

Aliases & Classifications for Kernicterus

Aliases & Descriptions for Kernicterus:

Name: Kernicterus 12 50 56 52 3 3 42 14 69
Bilirubin Encephalopathy 12 50 56
Hyperbilirubinemic Encephalopathy 50

Characteristics:

Orphanet epidemiological data:

56
bilirubin encephalopathy
Inheritance: Not applicable; Age of onset: Neonatal;

Classifications:



External Ids:

Disease Ontology 12 DOID:2382
ICD10 33 P57 P57.9 P57.8
MeSH 42 D007647
NCIt 47 C84799
Orphanet 56 ORPHA415286
ICD10 via Orphanet 34 P57.9
UMLS 69 C0022610

Summaries for Kernicterus

NIH Rare Diseases : 50 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 crigler-najjar syndrome, type ii and kernicterus due to isoimmunization, 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 Antibodies and gamma-Globulins have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and globus pallidus, and related phenotype is Decreased shRNA abundance (Z-score < -2).

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

Wikipedia : 71 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 48)
id Related Disease Score Top Affiliating Genes
1 crigler-najjar syndrome, type ii 31.4 UGT1A1 UGT1A4 UGT1A6 UGT1A9
2 kernicterus due to isoimmunization 12.1
3 cerebral palsy athetoid 10.9
4 lucey-driscoll syndrome 10.8
5 crigler-najjar syndrome, type i 10.8
6 neonatal jaundice 10.2
7 endometriosis of uterus 10.2 G6PD UGT1A1
8 glandular cystitis 10.1 G6PD UGT1A1
9 encephalopathy 10.1
10 krauss herman holmes syndrome 10.1 ALB G6PD
11 kohler's disease 10.1 ALB UGT1A1
12 heinz body anemia 10.1 G6PD UGT1A1
13 punctate epithelial keratoconjunctivitis 10.1 UGT1A1 UGT1A6
14 neutropenia, severe congenital 2, autosomal dominant 10.1 UGT1A1 UGT1A6
15 tk2-related mitochondrial dna depletion syndrome, myopathic form 10.1 G6PD UGT1A1
16 vagus nerve neoplasm 10.1 G6PD SLC4A1 UGT1A1
17 tenosynovitis 10.0 ALB G6PD
18 basal ganglia cerebrovascular disease 10.0 ALB RHCE
19 mutism 10.0 G6PD RHCE SLC4A1
20 fetal hemoglobin quantitative trait locus 1 10.0 G6PD UGT1A1 UGT1A6
21 echolalia 10.0 ALB RHCE
22 borderline leprosy 9.9 ALB UGT1A1 UGT1A6
23 adenosine triphosphate, elevated, of erythrocytes 9.9 G6PD PKM SLC4A1
24 acute dacryoadenitis 9.9 UGT1A1 UGT1A6
25 brain injury 9.9
26 cerebritis 9.9
27 blood group incompatibility 9.9
28 cerebral artery occlusion 9.8 PKM UGT1A1 UGT1A6
29 hyperbilirubinemia, familial transient neonatal 9.8 UGT1A1 UGT1A4 UGT1A6 UGT1A9
30 neuronitis 9.8
31 hepatitis 9.8
32 pyelitis 9.8 ALB G6PD UGT1A1 UGT1A6
33 pyeloureteritis cystica 9.7 G6PD UGT1A1 UGT1A4 UGT1A6 UGT1A9
34 cerebral palsy 9.6
35 athetosis 9.6
36 hemolytic anemia 9.6
37 congenital hypothyroidism 9.6
38 anoxia 9.6
39 aphasia 9.6
40 endotheliitis 9.6
41 hereditary spherocytosis 9.6
42 fulminant viral hepatitis 9.6
43 hypothyroidism 9.6
44 rheumatic fever 9.6
45 viral hepatitis 9.6
46 congenital hemolytic anemia 9.6
47 central pontine myelinolysis 9.6
48 renal artery disease 8.8 ALB G6PD PKM RHCE SLC4A1 UGT1A1

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
id 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 17)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies Phase 4
2 gamma-Globulins Phase 4
3 Immunoglobulins Phase 4
4 Immunoglobulins, Intravenous Phase 4
5 Pharmaceutical Solutions Phase 4
6 Rho(D) Immune Globulin Phase 4
7 Antioxidants Phase 4
8
Bilirubin Phase 4 635-65-4 5280352
9 Protective Agents Phase 4
10
Darbepoetin alfa Approved, Investigational Phase 2, Phase 3 11096-26-7, 209810-58-2
11
Tin Phase 3 7440-31-5
12 Tin mesoporphyrin Phase 3
13 Hematinics Phase 2, Phase 3
14
Menthol Approved 2216-51-5 16666
15
Carbon monoxide Approved 630-08-0 281
16 Antimetabolites
17 Neurotransmitter Agents

Interventional clinical trials:

(show all 13)
id Name Status NCT ID Phase
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 High-dose Intravenous Immunoglobulin Therapy for Hyperbilirubinemia Due Rh Hemolytic Disease Completed NCT00288600 Phase 4
3 Efficacy of Yinzhihuang Oral Liquid on Indirect Bilirubin of Neonates With Glucose-6-phosphate Dehydrogenase Deficiency Recruiting NCT02594904 Phase 4
4 Efficacy and Safety of Stannsoporfin in Neonates Completed NCT02685137 Phase 3
5 EPO-4-Rhesus: Role of Darbepoetin Alfa in Reducing Late Anaemia in Neonates With Red Blood Cell Alloimmunization After Intrauterine Transfusions Not yet recruiting NCT03104426 Phase 2, Phase 3
6 New Phototherapy Device to Treat Patients With Crigler-Najjar Disease Unknown status NCT02356978
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
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 Clinical and Developmental Outcomes of Babies Who Became Yellow in the First Month of Life Completed NCT02927093
12 Implementation of a Transcutaneous Bilirubinometer Completed NCT01622699
13 Bilirubin Binding Capacity to Assess Bilirubin Load in Preterm Infants Recruiting NCT02691156

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:

39
Brain, Skin, Globus Pallidus, Liver, Breast, Endothelial

Publications for Kernicterus

Articles related to Kernicterus:

(show top 50) (show all 346)
id Title Authors Year
1
Chronic kernicterus: magnetic resonance imaging findings. ( 28057969 )
2016
2
Kernicterus in Neonatal Jaundice-Finding the Needle in the Haystack. ( 26945202 )
2016
3
Glucose-6-Phosphate Dehydrogenase Deficiency and the Need for a Novel Treatment to Prevent Kernicterus. ( 27235212 )
2016
4
A new rat model of neonatal bilirubin encephalopathy (kernicterus). ( 27746217 )
2016
5
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
6
Current incidence of clinical kernicterus in preterm infants in Japan. ( 26113317 )
2015
7
Brain magnetic resonance imaging and magnetic resonance spectroscopy findings of children with kernicterus. ( 25745520 )
2015
8
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
9
Prevention of Kernicterus in South Asia: role of neonatal G6PD deficiency and its identification. ( 24763814 )
2014
10
The enigma of low bilirubin kernicterus in premature infants: Why does it still occur, and is it preventable? ( 25267279 )
2014
11
A novel newborn rat kernicterus model created by injecting a bilirubin solution into the cisterna magna. ( 24796550 )
2014
12
Why is kernicterus still a major cause of death and disability in low-income and middle-income countries? ( 25123403 )
2014
13
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
14
Acute kernicterus in a neonate with O/B blood group incompatibility and a mutation in SLC4A1. ( 23878048 )
2013
15
Use of the extended parallel processing model to evaluate culturally relevant kernicterus messages. ( 23237614 )
2013
16
Jaundice and kernicterus in the moderately preterm infant. ( 24182955 )
2013
17
Neonatal death suspected to be from sepsis was found to be kernicterus with G6PD deficiency. ( 24218468 )
2013
18
MRI findings in kernicterus. ( 22990632 )
2013
19
New autopsy findings in different brain regions of a preterm neonate with kernicterus: neurovascular alterations and up-regulation of efflux transporters. ( 24138949 )
2013
20
Low bilirubin kernicterus with sepsis and hypoalbuminaemia. ( 23616313 )
2013
21
Cotrimoxazole and neonatal kernicterus: a review. ( 24099411 )
2013
22
MRI findings in a dog with kernicterus. ( 23690488 )
2013
23
Cost-effectiveness analysis of a system-based approach for managing neonatal jaundice and preventing kernicterus in Ontario. ( 23277747 )
2012
24
Medical education content required for kernicterus risk recognition. ( 23056881 )
2012
25
The Italian Registry of kernicterus and hyperbilirubinaemia. ( 22958040 )
2012
26
Cerebellar axon/myelin loss, angiogenic sprouting, and neuronal increase of vascular endothelial growth factor in a preterm infant with kernicterus. ( 22190497 )
2012
27
Evidence suggests there was not a "resurgence" of kernicterus in the 1990s. ( 21444599 )
2011
28
Severe neonatal hyperbilirubinemia and kernicterus: are these still problems in the third millennium? ( 21968213 )
2011
29
Evaluation of oxidant and antioxidant status in infants with hyperbilirubinemia and kernicterus. ( 21393350 )
2011
30
Birth-related syndromes of athetosis and kernicterus. ( 21496597 )
2011
31
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
32
Prevention of acute bilirubin encephalopathy and kernicterus in newborns: position statement #3049. ( 22123452 )
2011
33
Prevention of acute bilirubin encephalopathy and kernicterus in newborns. Position Statement #3049. NANN Board of Directors, March 2010. ( 20505419 )
2010
34
Magnetic resonance imaging of bilateral mesial temporal sclerosis in chronic kernicterus. ( 21887194 )
2009
35
Fatal kernicterus in a girl deficient in glucose-6-phosphate dehydrogenase: a paradigm of synergistic heterozygosity. ( 19324225 )
2009
36
Changes in the globus pallidus in chronic kernicterus. ( 21887193 )
2009
37
Severe hyperbilirubinaemia and kernicterus: more caution is needed in newborn jaundice surveillance. ( 19772008 )
2009
38
A proposal to prevent severe neonatal hyperbilirubinemia and kernicterus. ( 19177062 )
2009
39
Obstetric outcome in Danish children with a validated diagnosis of kernicterus. ( 19639464 )
2009
40
Synopsis report from the pilot USA Kernicterus Registry. ( 19177058 )
2009
41
Kernicterus in preterm infants. ( 19433515 )
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
Clinical report from the pilot USA Kernicterus Registry (1992 to 2004). ( 19177057 )
2009
45
Trends in hospitalizations for neonatal jaundice and kernicterus in the United States, 1988-2005. ( 19171618 )
2009
46
Prevention of kernicterus: new guidelines and the critical role of family physicians. ( 18411389 )
2008
47
Heterologous assisted reproduction and kernicterus: the unlucky coincidence reveals an ethical dilemma. ( 18330816 )
2008
48
A new animal model of hemolytic hyperbilirubinemia-induced bilirubin encephalopathy (kernicterus). ( 18458656 )
2008
49
Kernicterus by glucose-6-phosphate dehydrogenase deficiency: a case report and review of the literature. ( 18460213 )
2008
50
Israel guidelines for the management of neonatal hyperbilirubinemia and prevention of kernicterus. ( 18322551 )
2008

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 17)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.77 ALB G6PD PKM SLC4A1 UGT1A1 UGT1A4
2
Show member pathways
12.87 UGT1A1 UGT1A4 UGT1A6 UGT1A9
3
Show member pathways
12.41 UGT1A1 UGT1A4 UGT1A6 UGT1A9
4
Show member pathways
12.25 UGT1A1 UGT1A4 UGT1A6 UGT1A9
5 11.82 G6PD UGT1A1 UGT1A4 UGT1A6 UGT1A9
6
Show member pathways
11.66 UGT1A1 UGT1A4 UGT1A6 UGT1A9
7 11.57 G6PD PKM UGT1A1 UGT1A4 UGT1A6 UGT1A9
8
Show member pathways
11.54 UGT1A1 UGT1A4 UGT1A6 UGT1A9
9
Show member pathways
11.46 UGT1A1 UGT1A4 UGT1A9
10
Show member pathways
11.45 UGT1A1 UGT1A4 UGT1A6 UGT1A9
11
Show member pathways
11.41 UGT1A1 UGT1A4 UGT1A6 UGT1A9
12 11.37 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 10.76 UGT1A1 UGT1A4 UGT1A6 UGT1A9
17
Show member pathways
10.75 UGT1A4 UGT1A9

GO Terms for Kernicterus

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

id 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:

id Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.65 PKM UGT1A1 UGT1A4 UGT1A6 UGT1A9
2 animal organ regeneration GO:0031100 9.46 PKM UGT1A1
3 retinoic acid metabolic process GO:0042573 9.43 UGT1A1 UGT1A9
4 heme catabolic process GO:0042167 9.4 UGT1A1 UGT1A4
5 flavone metabolic process GO:0051552 9.37 UGT1A1 UGT1A9
6 flavonoid glucuronidation GO:0052696 9.32 UGT1A1 UGT1A9
7 cellular glucuronidation GO:0052695 9.26 UGT1A1 UGT1A4 UGT1A6 UGT1A9
8 bilirubin conjugation GO:0006789 9.16 UGT1A1 UGT1A4
9 xenobiotic glucuronidation GO:0052697 8.92 UGT1A1 UGT1A4 UGT1A6 UGT1A9

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

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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