HBLRTFN
MCID: HYP766
MIFTS: 22

Hyperbilirubinemia, Transient Familial Neonatal (HBLRTFN)

Categories: Blood diseases, Genetic diseases, Liver diseases, Metabolic 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 53 59 75 29 6 73
Transient Familial Neonatal Hyperbilirubinemia 53 59 75 37
Hblrtfn 57 75
Hyperbilirubinemia, Familial Transient Neonatal ) 40
Hyperbilirubinemia, Familial Transient Neonatal 57
Hyperbilirubinemia Transient Familial Neonatal 53
Transient Familial Hyperbilirubinemia 53
Luceydriscoll Syndrome 76

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
hyperbilirubinemia, transient familial neonatal:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare hepatic diseases


External Ids:

OMIM 57 237900
Orphanet 59 ORPHA2312
ICD10 via Orphanet 34 P59.8
UMLS via Orphanet 74 C0270210
KEGG 37 H02152
UMLS 73 C0270210

Summaries for Hyperbilirubinemia, Transient Familial Neonatal

NIH Rare Diseases : 53 Lucey-Driscoll syndrome, a form of transient familial hyperbilirubinemia, is a rare metabolic disorder that leads to very high levels of bilirubin in a newborn's blood. Babies with this disorder may be born with severe jaundice (yellow skin), yellow eyes and lethargy. It occurs when the body does not properly break down (metabolize) a certain form of bilirubin.  If untreated, this condition can cause seizures, neurologic problems (kernicterus) and even death. Treatment for Lucey-Driscoll syndrome includes phototherapy with blue light (to treat the high level of bilirubin in the blood) and an exchange transfusion is sometimes necessary. Different inheritance patterns have been reported and in some cases, it occurs in individuals with no family history of the condition.

MalaCards based summary : Hyperbilirubinemia, Transient Familial Neonatal, is also known as lucey-driscoll syndrome. An important gene associated with Hyperbilirubinemia, Transient Familial Neonatal is UGT1A1 (UDP Glucuronosyltransferase Family 1 Member A1). Affiliated tissues include skin, eye and breast, and related phenotypes are jaundice and cerebral palsy

UniProtKB/Swiss-Prot : 75 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 : 76 Lucey�??Driscoll syndrome is an autosomal recessive metabolic disorder affecting enzymes involved in... more...

Description from OMIM: 237900

Related Diseases for Hyperbilirubinemia, Transient Familial Neonatal

Symptoms & Phenotypes for Hyperbilirubinemia, Transient Familial Neonatal

Symptoms via clinical synopsis from OMIM:

57
Skin:
jaundice

Lab:
neonatal unconjugated hyperbilirubinemia

Neuro:
cerebral palsy
kernicterus


Clinical features from OMIM:

237900

Human phenotypes related to Hyperbilirubinemia, Transient Familial Neonatal:

32
# Description HPO Frequency HPO Source Accession
1 jaundice 32 HP:0000952
2 cerebral palsy 32 HP:0100021
3 kernicterus 32 HP:0001343
4 neonatal unconjugated hyperbilirubinemia 32 HP:0008176

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:

41
Skin, Eye, Breast, Liver

Publications for Hyperbilirubinemia, Transient Familial Neonatal

Variations for Hyperbilirubinemia, Transient Familial Neonatal

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

75
# Symbol AA change Variation ID SNP ID
1 UGT1A1 p.Tyr486Asp VAR_007709 rs34993780
2 UGT1A1 p.Gly71Arg VAR_009504 rs4148323

ClinVar genetic disease variations for Hyperbilirubinemia, Transient Familial Neonatal:

6 (show all 32)
# Gene Variation Type Significance SNP ID Assembly Location
1 UGT1A1 UGT1A1*28 duplication Conflicting interpretations of pathogenicity, Affects, association, drug response, other rs3064744 GRCh37 Chromosome 2, 234668881: 234668881
2 UGT1A1 UGT1A1*28 duplication Conflicting interpretations of pathogenicity, Affects, association, drug response, other rs3064744 GRCh38 Chromosome 2, 233760235: 233760235
3 UGT1A1 UGT1A1*6 single nucleotide variant drug response rs4148323 GRCh37 Chromosome 2, 234669144: 234669144
4 UGT1A1 UGT1A1*6 single nucleotide variant drug response rs4148323 GRCh38 Chromosome 2, 233760498: 233760498
5 UGT1A1 NM_000463.2(UGT1A1): c.1456T> G (p.Tyr486Asp) single nucleotide variant Pathogenic rs34993780 GRCh37 Chromosome 2, 234681059: 234681059
6 UGT1A1 NM_000463.2(UGT1A1): c.1456T> G (p.Tyr486Asp) single nucleotide variant Pathogenic rs34993780 GRCh38 Chromosome 2, 233772413: 233772413
7 UGT1A1 NM_000463.2(UGT1A1): c.-1352A= single nucleotide variant Pathogenic rs3755319 GRCh37 Chromosome 2, 234667582: 234667582
8 UGT1A1 NM_000463.2(UGT1A1): c.-1352A= single nucleotide variant Pathogenic rs3755319 GRCh38 Chromosome 2, 233758936: 233758936
9 UGT1A1 NM_000463.2(UGT1A1): c.674T> G (p.Val225Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs35003977 GRCh37 Chromosome 2, 234669607: 234669607
10 UGT1A1 NM_000463.2(UGT1A1): c.674T> G (p.Val225Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs35003977 GRCh38 Chromosome 2, 233760961: 233760961
11 UGT1A1 NM_000463.2(UGT1A1): c.996+15T> C single nucleotide variant Conflicting interpretations of pathogenicity rs4148327 GRCh37 Chromosome 2, 234675826: 234675826
12 UGT1A1 NM_000463.2(UGT1A1): c.996+15T> C single nucleotide variant Conflicting interpretations of pathogenicity rs4148327 GRCh38 Chromosome 2, 233767180: 233767180
13 UGT1A1 NM_000463.2(UGT1A1): c.1122T> C (p.Gly374=) single nucleotide variant Uncertain significance rs139698110 GRCh37 Chromosome 2, 234676903: 234676903
14 UGT1A1 NM_000463.2(UGT1A1): c.1122T> C (p.Gly374=) single nucleotide variant Uncertain significance rs139698110 GRCh38 Chromosome 2, 233768257: 233768257
15 UGT1A1 NM_000463.2(UGT1A1): c.*211T> C single nucleotide variant Benign rs10929303 GRCh37 Chromosome 2, 234681416: 234681416
16 UGT1A1 NM_000463.2(UGT1A1): c.*211T> C single nucleotide variant Benign rs10929303 GRCh38 Chromosome 2, 233772770: 233772770
17 UGT1A1 NM_000463.2(UGT1A1): c.*585G> T single nucleotide variant Uncertain significance rs886055800 GRCh37 Chromosome 2, 234681790: 234681790
18 UGT1A1 NM_000463.2(UGT1A1): c.*585G> T single nucleotide variant Uncertain significance rs886055800 GRCh38 Chromosome 2, 233773144: 233773144
19 UGT1A1 NM_000463.2(UGT1A1): c.294T> C (p.Asn98=) single nucleotide variant Uncertain significance rs138183896 GRCh37 Chromosome 2, 234669227: 234669227
20 UGT1A1 NM_000463.2(UGT1A1): c.294T> C (p.Asn98=) single nucleotide variant Uncertain significance rs138183896 GRCh38 Chromosome 2, 233760581: 233760581
21 UGT1A1 NM_000463.2(UGT1A1): c.300T> C (p.Phe100=) single nucleotide variant Uncertain significance rs374655757 GRCh37 Chromosome 2, 234669233: 234669233
22 UGT1A1 NM_000463.2(UGT1A1): c.300T> C (p.Phe100=) single nucleotide variant Uncertain significance rs374655757 GRCh38 Chromosome 2, 233760587: 233760587
23 UGT1A1 NM_000463.2(UGT1A1): c.477C> T (p.Ile159=) single nucleotide variant Uncertain significance rs199766420 GRCh37 Chromosome 2, 234669410: 234669410
24 UGT1A1 NM_000463.2(UGT1A1): c.477C> T (p.Ile159=) single nucleotide variant Uncertain significance rs199766420 GRCh38 Chromosome 2, 233760764: 233760764
25 UGT1A1 NM_000463.2(UGT1A1): c.1322T> C (p.Met441Thr) single nucleotide variant Uncertain significance rs202172337 GRCh37 Chromosome 2, 234680925: 234680925
26 UGT1A1 NM_000463.2(UGT1A1): c.1322T> C (p.Met441Thr) single nucleotide variant Uncertain significance rs202172337 GRCh38 Chromosome 2, 233772279: 233772279
27 UGT1A1 NM_000463.2(UGT1A1): c.*339G> C single nucleotide variant Benign rs1042640 GRCh37 Chromosome 2, 234681544: 234681544
28 UGT1A1 NM_000463.2(UGT1A1): c.*339G> C single nucleotide variant Benign rs1042640 GRCh38 Chromosome 2, 233772898: 233772898
29 UGT1A1 NM_000463.2(UGT1A1): c.*201G> A single nucleotide variant Uncertain significance rs541532523 GRCh37 Chromosome 2, 234681406: 234681406
30 UGT1A1 NM_000463.2(UGT1A1): c.*201G> A single nucleotide variant Uncertain significance rs541532523 GRCh38 Chromosome 2, 233772760: 233772760
31 UGT1A1 NM_000463.2(UGT1A1): c.*440G> C single nucleotide variant Benign rs8330 GRCh37 Chromosome 2, 234681645: 234681645
32 UGT1A1 NM_000463.2(UGT1A1): c.*440G> C single nucleotide variant Benign rs8330 GRCh38 Chromosome 2, 233772999: 233772999

Expression for Hyperbilirubinemia, Transient Familial Neonatal

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

Pathways for Hyperbilirubinemia, Transient Familial Neonatal

GO Terms for Hyperbilirubinemia, Transient Familial Neonatal

Sources for Hyperbilirubinemia, Transient Familial Neonatal

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