HBLRTFN
MCID: HYP766
MIFTS: 43

Hyperbilirubinemia, Transient Familial Neonatal (HBLRTFN)

Categories: Blood diseases, Genetic diseases, Liver diseases, Rare diseases

Aliases & Classifications for Hyperbilirubinemia, Transient Familial Neonatal

MalaCards integrated aliases for Hyperbilirubinemia, Transient Familial Neonatal:

Name: Hyperbilirubinemia, Transient Familial Neonatal 57
Lucey-Driscoll Syndrome 57 73 20 58 72 29 6 70
Transient Familial Neonatal Hyperbilirubinemia 20 58 72 36
Hyperbilirubinemia, Familial Transient Neonatal 57 39
Hblrtfn 57 72
Hyperbilirubinemia Transient Familial Neonatal 20
Transient Familial Hyperbilirubinemia 20

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
hyperbilirubinemia, transient familial neonatal:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare hepatic diseases


External Ids:

OMIM® 57 237900
OMIM Phenotypic Series 57 PS237450
KEGG 36 H02152
ICD10 via Orphanet 33 P59.8
UMLS via Orphanet 71 C0270210
Orphanet 58 ORPHA2312
UMLS 70 C0270210

Summaries for Hyperbilirubinemia, Transient Familial Neonatal

GARD : 20 Lucey-Driscoll syndrome, also known as transient familial hyperbilirubinemia, is a rare condition that leads to very high levels of bilirubin in a newborn's blood. Bilirubin comes from the breakdown of red blood cells and is handled by the liver. Babies with this condition may be born with jaundice, causing yellow skin, yellow eyes and excess sleepiness (l ethargy ). The cause of Lucey-Driscoll syndrome is thought to be due to compounds in the mother's and baby's blood that block the breakdown of bilirubin. In some babies, this condition may be the result of a genetic change in the UGT1A1 gene, a risk factor for high levels of bilirubin. The diagnosis is made based on the symptoms. Treatment for Lucey-Driscoll syndrome includes phototherapy, placing the baby under a blue light to treat the high level of bilirubin in the blood. Sometimes, replacing the baby's blood with different blood ( exchange transfusion ) is necessary. If untreated, high levels of bilirubin can cause seizures, neurologic problems ( kernicterus ) and even death. Most babies with Lucey-Driscoll will have no additional complications after treatment.

MalaCards based summary : Hyperbilirubinemia, Transient Familial Neonatal, also known as lucey-driscoll syndrome, is related to bilirubin metabolic disorder and drug-induced hepatitis. An important gene associated with Hyperbilirubinemia, Transient Familial Neonatal is UGT1A1 (UDP Glucuronosyltransferase Family 1 Member A1), and among its related pathways/superpathways are Metabolism and Cytochrome P450 - arranged by substrate type. Affiliated tissues include liver and breast, and related phenotypes are jaundice and cerebral palsy

KEGG : 36 Transient familial neonatal hyperbilirubinemia, also known as Lucey-Driscoll syndrome, is a rare familial disorder that causes severe unconjugated hyperbilirubinemia in the first few days of life. It has been suggested that mutations in UGT1A1 cause this disease.

UniProtKB/Swiss-Prot : 72 Transient familial neonatal hyperbilirubinemia: A condition characterized by excessive concentration of bilirubin in the blood, which may lead to jaundice. Breast milk jaundice is a common problem in nursing infants.

Wikipedia : 73 Lucey-Driscoll syndrome is an autosomal recessive metabolic disorder affecting enzymes involved in... more...

More information from OMIM: 237900 PS237450

Related Diseases for Hyperbilirubinemia, Transient Familial Neonatal

Diseases related to Hyperbilirubinemia, Transient Familial Neonatal via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 bilirubin metabolic disorder 27.1 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
2 drug-induced hepatitis 9.8 UGT1A3 UGT1A1
3 epicardium cancer 9.8 UGT1A8 UGT1A1
4 blood group incompatibility 9.7 UGT1A8 UGT1A1
5 thiopurines, poor metabolism of, 1 9.6 UGT1A8 UGT1A6 UGT1A1
6 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 9.6 UGT1A8 UGT1A6 UGT1A1
7 dihydropyrimidine dehydrogenase deficiency 9.6 UGT1A8 UGT1A6 UGT1A1
8 pigmentation disease 9.6 UGT1A8 UGT1A6 UGT1A1
9 glucosephosphate dehydrogenase deficiency 9.6 UGT1A8 UGT1A6 UGT1A1
10 pericholangitis 9.5 UGT1A7 UGT1A5 UGT1A3 UGT1A10
11 gallbladder disease 9.5 UGT1A8 UGT1A6 UGT1A1
12 inherited metabolic disorder 9.5 UGT1A8 UGT1A6 UGT1A1
13 cholelithiasis 9.4 UGT1A8 UGT1A6 UGT1A3 UGT1A1
14 sickle cell anemia 9.4 UGT1A8 UGT1A6 UGT1A10 UGT1A1
15 acetaminophen metabolism 9.4 UGT1A9 UGT1A6 UGT1A3 UGT1A10 UGT1A1
16 kernicterus 8.2 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
17 hereditary spherocytosis 8.0 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
18 crigler-najjar syndrome, type i 8.0 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
19 crigler-najjar syndrome, type ii 8.0 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
20 bilirubin, serum level of, quantitative trait locus 1 8.0 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
21 gilbert syndrome 8.0 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4

Graphical network of the top 20 diseases related to Hyperbilirubinemia, Transient Familial Neonatal:



Diseases related to Hyperbilirubinemia, Transient Familial Neonatal

Symptoms & Phenotypes for Hyperbilirubinemia, Transient Familial Neonatal

Human phenotypes related to Hyperbilirubinemia, Transient Familial Neonatal:

31
# Description HPO Frequency HPO Source Accession
1 jaundice 31 HP:0000952
2 cerebral palsy 31 HP:0100021
3 kernicterus 31 HP:0001343
4 neonatal unconjugated hyperbilirubinemia 31 HP:0008176

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin:
jaundice

Lab:
neonatal unconjugated hyperbilirubinemia

Neuro:
cerebral palsy
kernicterus

Clinical features from OMIM®:

237900 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Hyperbilirubinemia, Transient Familial Neonatal according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 9.64 UGT1A4
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-147 9.64 UGT1A3 UGT1A7
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.64 UGT1A7
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 9.64 UGT1A4 UGT1A7
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.64 UGT1A3 UGT1A4
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.64 UGT1A5
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.64 UGT1A3 UGT1A4 UGT1A5
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-215 9.64 UGT1A5
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-29 9.64 UGT1A5

Drugs & Therapeutics for Hyperbilirubinemia, Transient Familial Neonatal

Search Clinical Trials , NIH Clinical Center for Hyperbilirubinemia, Transient Familial Neonatal

Genetic Tests for Hyperbilirubinemia, Transient Familial Neonatal

Genetic tests related to Hyperbilirubinemia, Transient Familial Neonatal:

# Genetic test Affiliating Genes
1 Lucey-Driscoll Syndrome 29 UGT1A1

Anatomical Context for Hyperbilirubinemia, Transient Familial Neonatal

MalaCards organs/tissues related to Hyperbilirubinemia, Transient Familial Neonatal:

40
Liver, Breast

Publications for Hyperbilirubinemia, Transient Familial Neonatal

Articles related to Hyperbilirubinemia, Transient Familial Neonatal:

(show all 39)
# Title Authors PMID Year
1
Association of breast-fed neonatal hyperbilirubinemia with UGT1A1 polymorphisms: 211G>A (G71R) mutation becomes a risk factor under inadequate feeding. 6 57
23014115 2013
2
Prolonged unconjugated hyperbilirubinemia associated with breast milk and mutations of the bilirubin uridine diphosphate- glucuronosyltransferase gene. 6 57
11061796 2000
3
Inherited disorders of bilirubin clearance. 20 61
26595536 2016
4
Association of polymorphisms in four bilirubin metabolism genes with serum bilirubin in three Asian populations. 6
19243019 2009
5
Influence of mutations associated with Gilbert and Crigler-Najjar type II syndromes on the glucuronidation kinetics of bilirubin and other UDP-glucuronosyltransferase 1A substrates. 6
18004206 2007
6
Molecular pathogenesis of Gilbert's syndrome: decreased TATA-binding protein binding affinity of UGT1A1 gene promoter. 6
17496722 2007
7
Global gene expression as a function of germline genetic variation. 6
15857854 2005
8
Hyperbilirubinemia in homozygous HbE disease is associated with the UGT1A1 gene polymorphism. 6
16114182 2005
9
Pharmacogenetics and drug development: the path to safer and more effective drugs. 6
15372086 2004
10
UDP-glucuronosyltransferase 1 gene promoter polymorphism is associated with increased serum bilirubin levels and cholecystectomy in patients with sickle cell anemia. 6
12859413 2003
11
The global distribution of length polymorphisms of the promoters of the glucuronosyltransferase 1 gene (UGT1A1): hematologic and evolutionary implications. 6
12850492 2003
12
Association of a homozygous (TA)8 promoter polymorphism and a N400D mutation of UGT1A1 in a child with Crigler-Najjar type II syndrome. 6
12402338 2002
13
Genetic determinants of jaundice and gallstones in haemoglobin E beta thalassaemia. 6
11425418 2001
14
Interaction of coding region mutations and the Gilbert-type promoter abnormality of the UGT1A1 gene causes moderate degrees of unconjugated hyperbilirubinaemia and may lead to neonatal kernicterus. 6
11370628 2001
15
Molecular diagnosis of a familial nonhemolytic hyperbilirubinemia (Gilbert's syndrome) in healthy subjects. 6
11003624 2000
16
Gilbert's syndrome and hyperbilirubinaemia in ABO-incompatible neonates. 6
10968441 2000
17
Intermittent jaundice in patients with acute leukaemia: a common mutation of the bilirubin uridine-diphosphate glucuronosyltransferase gene among Asians. 6
10472535 1999
18
A case of anorexia nervosa with hyperbilirubinaemia in a patient homozygous for a mutation in the bilirubin UDP-glucuronosyltransferase gene. 6
10412811 1999
19
Gilbert's syndrome is a contributory factor in prolonged unconjugated hyperbilirubinemia of the newborn. 6
10190918 1999
20
Neonatal hyperbilirubinemia and a common mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese. 6
9929972 1999
21
Neonatal hyperbilirubinemia and mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene: a common missense mutation among Japanese, Koreans and Chinese. 6
9784835 1998
22
Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism? 6
9653159 1998
23
UGT1 promoter polymorphism accounts for increased neonatal appearance of hereditary spherocytosis. 6
9446675 1998
24
Analysis of bilirubin uridine 5'-diphosphate (UDP)-glucuronosyltransferase gene mutations in seven patients with Crigler-Najjar syndrome type II. 6
9621515 1998
25
Hyperbilirubinaemia in heterozygous beta-thalassaemia is related to co-inherited Gilbert's syndrome. 6
9375768 1997
26
Gilbert syndrome and glucose-6-phosphate dehydrogenase deficiency: a dose-dependent genetic interaction crucial to neonatal hyperbilirubinemia. 6
9342374 1997
27
The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. 6
7565971 1995
28
A mutation in bilirubin uridine 5'-diphosphate-glucuronosyltransferase isoform 1 causing Crigler-Najjar syndrome type II. 6
8514037 1993
29
Breast mild jaundice: natural history, familial incidence and late neurodevelopmental outcome of the infant. 57
2029918 1991
30
The cDNA sequence and expression of a variant 17 beta-hydroxysteroid UDP-glucuronosyltransferase. 6
1692835 1990
31
Recurrence risk of neonatal hyperbilirubinemia in siblings. 57
3177302 1988
32
TRANSIENT FAMILIAL NEONATAL HYPERBILIRUBINEMIA. 57
14332157 1965
33
PROLONGED NEONATAL UNCONJUGATED HYPERBILIRUBINEMIA ASSOCIATED WITH BREAST FEEDING AND A STEROID, PREGNANE-3(ALPHA), 20(BETA)-DIOL, IN MATERNAL MILK THAT INHIBITS GLUCURONIDE FORMATION IN VITRO. 57
14228539 1964
34
PRODUCTION OF UNCONJUGATED HYPERBILIRUBINAEMIA IN FULL-TERM NEW-BORN INFANTS FOLLOWING ADMINISTRATION OF PREGNANE-3(ALPHA),20(BETA)-DIOL. 57
14230216 1964
35
MATERNAL PHENYLKETONURIA. A CAUSE OF MENTAL RETARDATION IN CHILDREN WITHOUT THE METABOLIC DEFECT. 57
14064329 1963
36
HYPERBILIRUBINEMIA IN BREAST-FED INFANTS. 57
14084340 1963
37
Inherited disorders of bilirubin transport and conjugation: new insights into molecular mechanisms and consequences. 20
24704527 2014
38
[Lucey-Driscoll syndrome]. 61
8581674 1995
39
[Lucey-Driscoll syndrome]. 61
612731 1977

Variations for Hyperbilirubinemia, Transient Familial Neonatal

ClinVar genetic disease variations for Hyperbilirubinemia, Transient Familial Neonatal:

6 (show all 50)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.1453T>G (p.Tyr485Asp) SNV Pathogenic 12281 rs34993780 GRCh37: 2:234681059-234681059
GRCh38: 2:233772413-233772413
2 UGT1A1 , UGT1A , UGT1A10 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-8098= SNV Pathogenic 12282 rs3755319 GRCh37: 2:234667582-234667582
GRCh38: 2:233758936-233758936
3 UGT1A1 , UGT1A , UGT1A10 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 UGT1A1*28 Microsatellite Pathogenic 12275 rs3064744 GRCh37: 2:234668881-234668881
GRCh38: 2:233760233-233760234
4 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 UGT1A1*6 SNV Pathogenic 12280 rs4148323 GRCh37: 2:234669144-234669144
GRCh38: 2:233760498-233760498
5 UGT1A1 , UGT1A , UGT1A10 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 UGT1A1*28 Microsatellite Pathogenic 12275 rs3064744 GRCh37: 2:234668881-234668881
GRCh38: 2:233760233-233760234
6 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.1088C>T (p.Pro363Leu) SNV Likely pathogenic 212543 rs34946978 GRCh37: 2:234676872-234676872
GRCh38: 2:233768226-233768226
7 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.1453T>G (p.Tyr485Asp) SNV Likely pathogenic 12281 rs34993780 GRCh37: 2:234681059-234681059
GRCh38: 2:233772413-233772413
8 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-6447T>C SNV Uncertain significance 335080 rs374655757 GRCh37: 2:234669233-234669233
GRCh38: 2:233760587-233760587
9 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.1119T>C (p.Gly373=) SNV Uncertain significance 197147 rs139698110 GRCh37: 2:234676903-234676903
GRCh38: 2:233768257-233768257
10 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-6453T>C SNV Uncertain significance 335079 rs138183896 GRCh37: 2:234669227-234669227
GRCh38: 2:233760581-233760581
11 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.*201G>A SNV Uncertain significance 335083 rs541532523 GRCh37: 2:234681406-234681406
GRCh38: 2:233772760-233772760
12 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.1319T>C (p.Met440Thr) SNV Uncertain significance 335082 rs202172337 GRCh37: 2:234680925-234680925
GRCh38: 2:233772279-233772279
13 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_000463.3(UGT1A1):c.*301G>A SNV Uncertain significance 897537 GRCh37: 2:234681506-234681506
GRCh38: 2:233772860-233772860
14 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-5999T>C SNV Uncertain significance 160240 rs57307513 GRCh37: 2:234669681-234669681
GRCh38: 2:233761035-233761035
15 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-5909T>G SNV Uncertain significance 595180 rs754213125 GRCh37: 2:234669771-234669771
GRCh38: 2:233761125-233761125
16 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_000463.3(UGT1A1):c.964A>G (p.Ile322Val) SNV Uncertain significance 724578 rs200903749 GRCh37: 2:234675779-234675779
GRCh38: 2:233767133-233767133
17 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_000463.3(UGT1A1):c.1518C>A (p.Thr506=) SNV Uncertain significance 897468 GRCh37: 2:234681121-234681121
GRCh38: 2:233772475-233772475
18 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_000463.3(UGT1A1):c.1548A>T (p.Lys516Asn) SNV Uncertain significance 898625 GRCh37: 2:234681151-234681151
GRCh38: 2:233772505-233772505
19 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_000463.3(UGT1A1):c.*84T>C SNV Uncertain significance 898626 GRCh37: 2:234681289-234681289
GRCh38: 2:233772643-233772643
20 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_000463.3(UGT1A1):c.*419T>C SNV Uncertain significance 898686 GRCh37: 2:234681624-234681624
GRCh38: 2:233772978-233772978
21 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.*585G>T SNV Uncertain significance 335087 rs886055800 GRCh37: 2:234681790-234681790
GRCh38: 2:233773144-233773144
22 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-6073T>G SNV Uncertain significance 160239 rs35003977 GRCh37: 2:234669607-234669607
GRCh38: 2:233760961-233760961
23 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-6270C>T SNV Uncertain significance 335081 rs199766420 GRCh37: 2:234669410-234669410
GRCh38: 2:233760764-233760764
24 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.1204C>T (p.Arg402Cys) SNV Uncertain significance 498359 rs778766461 GRCh37: 2:234676988-234676988
GRCh38: 2:233768342-233768342
25 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.1321C>T (p.Arg441Cys) SNV Uncertain significance 286999 rs143033456 GRCh37: 2:234680927-234680927
GRCh38: 2:233772281-233772281
26 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-6421T>C SNV Uncertain significance 289882 rs144217005 GRCh37: 2:234669259-234669259
GRCh38: 2:233760613-233760613
27 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_000463.3(UGT1A1):c.361G>C (p.Ala121Pro) SNV Uncertain significance 895502 GRCh37: 2:234669294-234669294
GRCh38: 2:233760648-233760648
28 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_000463.3(UGT1A1):c.*133G>A SNV Uncertain significance 895638 GRCh37: 2:234681338-234681338
GRCh38: 2:233772692-233772692
29 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_000463.3(UGT1A1):c.*188T>G SNV Uncertain significance 895639 GRCh37: 2:234681393-234681393
GRCh38: 2:233772747-233772747
30 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_000463.3(UGT1A1):c.*461G>T SNV Uncertain significance 895706 GRCh37: 2:234681666-234681666
GRCh38: 2:233773020-233773020
31 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_000463.3(UGT1A1):c.*674G>A SNV Uncertain significance 895991 GRCh37: 2:234681879-234681879
GRCh38: 2:233773233-233773233
32 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_000463.3(UGT1A1):c.25C>T (p.Arg9Cys) SNV Uncertain significance 895439 GRCh37: 2:234668958-234668958
GRCh38: 2:233760312-233760312
33 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-6606C>T SNV Uncertain significance 160234 rs34526305 GRCh37: 2:234669074-234669074
GRCh38: 2:233760428-233760428
34 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-6605C>G SNV Uncertain significance 597578 rs747942373 GRCh37: 2:234669075-234669075
GRCh38: 2:233760429-233760429
35 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-6361A>G SNV Uncertain significance 594558 rs1191873899 GRCh37: 2:234669319-234669319
GRCh38: 2:233760673-233760673
36 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-6207A>G SNV Uncertain significance 289602 rs148755655 GRCh37: 2:234669473-234669473
GRCh38: 2:233760827-233760827
37 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_000463.3(UGT1A1):c.1180T>C (p.Phe394Leu) SNV Uncertain significance 895576 GRCh37: 2:234676961-234676961
GRCh38: 2:233768315-233768315
38 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_000463.3(UGT1A1):c.1410C>T (p.Gly470=) SNV Uncertain significance 896983 GRCh37: 2:234681013-234681013
GRCh38: 2:233772367-233772367
39 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_000463.3(UGT1A1):c.*269C>T SNV Uncertain significance 897054 GRCh37: 2:234681474-234681474
GRCh38: 2:233772828-233772828
40 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-6580A>C SNV Uncertain significance 596451 rs140365717 GRCh37: 2:234669100-234669100
GRCh38: 2:233760454-233760454
41 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-6558C>T SNV Uncertain significance 500144 rs191471887 GRCh37: 2:234669122-234669122
GRCh38: 2:233760476-233760476
42 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_000463.3(UGT1A1):c.288G>A (p.Gly96=) SNV Uncertain significance 897334 GRCh37: 2:234669221-234669221
GRCh38: 2:233760575-233760575
43 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-6170G>A SNV Uncertain significance 290430 rs375974892 GRCh37: 2:234669510-234669510
GRCh38: 2:233760864-233760864
44 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_000463.3(UGT1A1):c.584G>A (p.Arg195Lys) SNV Uncertain significance 897407 GRCh37: 2:234669517-234669517
GRCh38: 2:233760871-233760871
45 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_000463.3(UGT1A1):c.1411G>A (p.Ala471Thr) SNV Uncertain significance 897467 GRCh37: 2:234681014-234681014
GRCh38: 2:233772368-233772368
46 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.1425C>T (p.Pro475=) SNV Likely benign 160235 rs28900406 GRCh37: 2:234681031-234681031
GRCh38: 2:233772385-233772385
47 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.993+15T>C SNV Likely benign 160241 rs4148327 GRCh37: 2:234675826-234675826
GRCh38: 2:233767180-233767180
48 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.*339G>C SNV Benign 335085 rs1042640 GRCh37: 2:234681544-234681544
GRCh38: 2:233772898-233772898
49 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.*440G>C SNV Benign 335086 rs8330 GRCh37: 2:234681645-234681645
GRCh38: 2:233772999-233772999
50 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.*211T>C SNV Benign 335084 rs10929303 GRCh37: 2:234681416-234681416
GRCh38: 2:233772770-233772770

UniProtKB/Swiss-Prot genetic disease variations for Hyperbilirubinemia, Transient Familial Neonatal:

72
# Symbol AA change Variation ID SNP ID
1 UGT1A1 p.Tyr486Asp VAR_007709 rs34993780
2 UGT1A1 p.Gly71Arg VAR_009504 rs4148323

Expression for Hyperbilirubinemia, Transient Familial Neonatal

Search GEO for disease gene expression data for Hyperbilirubinemia, Transient Familial Neonatal.

Pathways for Hyperbilirubinemia, Transient Familial Neonatal

Pathways related to Hyperbilirubinemia, Transient Familial Neonatal according to GeneCards Suite gene sharing:

(show all 24)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.9 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
2
Show member pathways
13.19 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
3
Show member pathways
12.86 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
4 12.3 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
5 12.17 UGT1A9 UGT1A7 UGT1A6 UGT1A4 UGT1A3 UGT1A1
6
Show member pathways
12.17 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
7
Show member pathways
11.87 UGT1A9 UGT1A8 UGT1A6 UGT1A4 UGT1A3 UGT1A10
8
Show member pathways
11.85 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
9
Show member pathways
11.84 UGT1A9 UGT1A3 UGT1A1
10
Show member pathways
11.83 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
11
Show member pathways
11.78 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A4 UGT1A3
12
Show member pathways
11.76 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
13
Show member pathways
11.74 UGT1A9 UGT1A8 UGT1A3 UGT1A10 UGT1A1
14
Show member pathways
11.67 UGT1A9 UGT1A6 UGT1A4 UGT1A1
15 11.65 UGT1A9 UGT1A7 UGT1A6 UGT1A4 UGT1A3 UGT1A1
16
Show member pathways
11.47 UGT1A9 UGT1A8 UGT1A6 UGT1A4 UGT1A3 UGT1A1
17
Show member pathways
11.45 UGT1A8 UGT1A4 UGT1A3 UGT1A10
18 11.41 UGT1A9 UGT1A6 UGT1A4 UGT1A3 UGT1A1
19
Show member pathways
11.3 UGT1A9 UGT1A7 UGT1A1
20 11.23 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
21 10.93 UGT1A9 UGT1A4 UGT1A3
22 10.79 UGT1A4 UGT1A3
23
Show member pathways
10.65 UGT1A3 UGT1A1
24 10.55 UGT1A9 UGT1A10

GO Terms for Hyperbilirubinemia, Transient Familial Neonatal

Cellular components related to Hyperbilirubinemia, Transient Familial Neonatal according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.91 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
2 integral component of membrane GO:0016021 9.81 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
3 endoplasmic reticulum GO:0005783 9.61 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
4 endoplasmic reticulum membrane GO:0005789 9.28 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4

Biological processes related to Hyperbilirubinemia, Transient Familial Neonatal according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cellular glucuronidation GO:0052695 9.76 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A4 UGT1A3
2 retinoic acid metabolic process GO:0042573 9.72 UGT1A9 UGT1A8 UGT1A7 UGT1A3 UGT1A1
3 negative regulation of catalytic activity GO:0043086 9.71 UGT1A8 UGT1A7 UGT1A1
4 negative regulation of fatty acid metabolic process GO:0045922 9.67 UGT1A8 UGT1A4 UGT1A10 UGT1A1
5 estrogen metabolic process GO:0008210 9.65 UGT1A7 UGT1A3 UGT1A1
6 flavone metabolic process GO:0051552 9.65 UGT1A9 UGT1A8 UGT1A7 UGT1A10 UGT1A1
7 drug metabolic process GO:0017144 9.63 UGT1A8 UGT1A7 UGT1A1
8 negative regulation of cellular glucuronidation GO:2001030 9.61 UGT1A4 UGT1A10 UGT1A1
9 xenobiotic glucuronidation GO:0052697 9.61 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
10 negative regulation of glucuronosyltransferase activity GO:1904224 9.58 UGT1A4 UGT1A10 UGT1A1
11 heme catabolic process GO:0042167 9.56 UGT1A4 UGT1A1
12 coumarin metabolic process GO:0009804 9.55 UGT1A8 UGT1A7
13 vitamin D3 metabolic process GO:0070640 9.52 UGT1A4 UGT1A3
14 negative regulation of steroid metabolic process GO:0045939 9.51 UGT1A8 UGT1A1
15 bilirubin conjugation GO:0006789 9.49 UGT1A4 UGT1A1
16 flavonoid glucuronidation GO:0052696 9.28 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4

Molecular functions related to Hyperbilirubinemia, Transient Familial Neonatal according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 10.09 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
2 protein homodimerization activity GO:0042803 10.01 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A4 UGT1A3
3 enzyme binding GO:0019899 9.97 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A4 UGT1A3
4 protein heterodimerization activity GO:0046982 9.92 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A4 UGT1A3
5 retinoic acid binding GO:0001972 9.86 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A4 UGT1A3
6 transferase activity, transferring glycosyl groups GO:0016757 9.81 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
7 enzyme inhibitor activity GO:0004857 9.63 UGT1A8 UGT1A7 UGT1A1
8 glucuronosyltransferase activity GO:0015020 9.61 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
9 protein kinase C binding GO:0005080 9.51 UGT1A7 UGT1A10
10 drug binding GO:0008144 9.49 UGT1A8 UGT1A7
11 steroid binding GO:0005496 9.48 UGT1A8 UGT1A1
12 UDP-glycosyltransferase activity GO:0008194 9.28 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4

Sources for Hyperbilirubinemia, Transient Familial Neonatal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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