Transient familial neonatal hyperbilirubinemia

General Information (adopted from Orphanet):

Synonyms, Signs: HBLRTFN
LUCEY-DRISCOLL SYNDROME BREAST MILK JAUNDICE, INCLUDED
Lucey-Driscoll syndrome
Number of Symptoms 5
OrphanetNr: 2312
OMIM Id: 237900
ICD-10: P59.3
P59.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Rare genetic hepatic disease
 -Rare genetic disease
Rare hepatic disease
 -Rare hepatic disease

Symptom Information: Sort by abundance 

1
(HPO:0001343) Kernicterus 4 / 7739
2
(HPO:0100021) Cerebral palsy 36 / 7739
3
(HPO:0000952) Jaundice 105 / 7739
4
(HPO:0008176) Neonatal unconjugated hyperbilirubinemia 1 / 7739
5
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Occasionally, severe neonatal unconjugated hyperbilirubinemia occurs without evident etiologic explanation. Lucey et al. (1960) and Arias et al. (1965) suggested that some of these cases may have a familial basis. The cause of transient neonatal hyperbilirubinemia may be ...
Molecular genetics OMIM Maruo et al. (2000) analyzed 17 breastfed Japanese infants with apparent prolonged jaundice (serum bilirubin greater than 10 mg/dL at age 3 weeks to 1 month). When breastfeeding was stopped, the serum bilirubin levels began to decrease in ...