Hereditary hyperbilirubinemia
diseaseOn this page
Also known as bilirubin metabolic disorderhyperbilirubinaemiahyperbilirubinemia
Summary
Hereditary hyperbilirubinemia (MONDO:0002408) is a disease (an umbrella term covering 7 Mondo subtypes) and 31 clinical trials. Top therapeutic interventions include glycerin, levocarnitine, and stannsoporfin. A subtype of inborn disorder of bilirubin metabolism — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Umbrella term: 7 Mondo subtypes
- Clinical trials: 31
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | hereditary hyperbilirubinemia |
| Mondo ID | MONDO:0002408 |
| MeSH | D006933 |
| OMIM | 237450 |
| DOID | DOID:2741 |
| NCIT | C84761 |
| UMLS | C0020435 |
| MedGen | 6963 |
| GARD | 0023131 |
| Is cancer (heuristic) | no |
Also known as: bilirubin metabolic disorder · hereditary hyperbilirubinemia · hyperbilirubinaemia · hyperbilirubinemia
Disease family
An umbrella term covering 7 Mondo subtypes.
Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › inborn errors of metabolism › inborn disorder of porphyrin metabolism › inborn disorder of bilirubin metabolism › hereditary hyperbilirubinemia
Related subtypes (4): progressive familial intrahepatic cholestasis, arthrogryposis-renal dysfunction-cholestasis syndrome, bilirubin encephalopathy, benign recurrent intrahepatic cholestasis
Subtypes (7): Gilbert syndrome, Crigler-Najjar syndrome, Rotor syndrome, Dubin-Johnson syndrome, hyperbilirubinemia, conjugated, type 3, hyperbilirubinemia, shunt, primary, transient familial neonatal hyperbilirubinemia
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 31.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 23 |
| PHASE2 | 4 |
| PHASE3 | 2 |
| PHASE4 | 1 |
| EARLY_PHASE1 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT00288600 | PHASE4 | COMPLETED | Efficacy of High-dose Intravenous Immunoglobulin Therapy for Hyperbilirubinemia Due Rh Hemolytic Disease |
| NCT00360204 | PHASE3 | COMPLETED | Improving Health Outcomes for New Mothers and Babies |
| NCT00653874 | PHASE3 | COMPLETED | Transcutaneous Bilirubinometry in Healthy Term and Near-Term Neonates |
| NCT00004381 | PHASE2 | COMPLETED | Phase II Randomized Study of Tin Mesoporphyrin for Neonatal Hyperbilirubinemia |
| NCT00004382 | PHASE2 | COMPLETED | Phase II Study of Tin Mesoporphyrin vs Phototherapy for Hyperbilirubinemia in Premature Newborns |
| NCT00115544 | PHASE2 | COMPLETED | Safety and Pharmacology of Stanate |
| NCT03564678 | PHASE2 | TERMINATED | Levocarnitine and Vitamin B Complex in Treating PEG-Asparaginase or Inotuzumab Ozogamicin-Induced Hyperbilirubinemia in Patients With Acute Lymphoblastic Leukemia |
| NCT01550627 | EARLY_PHASE1 | COMPLETED | Effect of Intravenous Fluid Supplementation on Serum Bilirubin and Cardiorespiratory Parameters in Preterm Infants During Phototherapy |
| NCT06421844 | Not specified | RECRUITING | A Prospective Study: Smart Phone Application for Measure Serum Bilirubin Through Sclera Images |
| NCT07409194 | Not specified | ENROLLING_BY_INVITATION | The Effect of Acupressure on Hyperbilirubinemia in Newborns: A Randomized Controlled Trial |
| NCT00076960 | Not specified | NO_LONGER_AVAILABLE | Compassionate Use of Stanate (TM) [Stannsoporfin] |
| NCT00383318 | Not specified | COMPLETED | Demographic, Metabolic, and Genomic Description of Neonates With Severe Hyperbilirubinemia |
| NCT00635375 | Not specified | COMPLETED | Comparative Study of Phototherapy for Hyperbilirubinemia |
| NCT00741117 | Not specified | TERMINATED | Conjugated Hyperbilirubinemia and Pulse Oximetry |
| NCT01136577 | Not specified | TERMINATED | Light-emitting Diodes (LED) Phototherapy for Hyperbilirubinemia of Term Newborn |
| NCT01622699 | Not specified | COMPLETED | Implementation of a Transcutaneous Bilirubinometer |
| NCT01746511 | Not specified | COMPLETED | Glycerin Suppositories to Reduce Jaundice in Premature Infants |
| NCT01944696 | Not specified | UNKNOWN | Cycled Phototherapy: A Safer Effective Treatment for Small Premature Infants? |
| NCT02446951 | Not specified | COMPLETED | Implementation of a Clinical Decision Rule for Treatment of Neonatal Jaundice in the Emergency Department |
| NCT02612207 | Not specified | COMPLETED | Point-of-Care System for Determination of Bilirubin Capacity in Neonates |
| NCT02613676 | Not specified | COMPLETED | Transcutaneous Screening for Risk of Severe Hyperbilirubinemia in South African Newborns |
| NCT02685189 | Not specified | TERMINATED | Long-Term Clinical Follow-Up of Children Enrolled in Stannsoporfin Clinical Trial Protocol No. 64,185-06-2(W) |
| NCT02691156 | Not specified | COMPLETED | Bilirubin Binding Capacity to Assess Bilirubin Load in Preterm Infants |
| NCT02712138 | Not specified | WITHDRAWN | Biomarker for Gilbert Disease (BioGilbert) |
| NCT02774434 | Not specified | COMPLETED | Efficacy Study of the Draeger Jaundice Meter (JM-105) in Neonates of ≥ 24 Weeks of Gestational Age |
| NCT02805296 | Not specified | COMPLETED | High Intensity Phototherapy: Double vs. Single |
| NCT03195998 | Not specified | COMPLETED | Validity of Transcutaneous Bilirubin Monitoring in Preterm Infants |
| NCT04271098 | Not specified | COMPLETED | The Investigation of the Causes of Hepatic Dysfunction in the Postoperative Period During Open-heart Surgeries |
| NCT04792996 | Not specified | COMPLETED | Preventive Potential of Bilirubin |
| NCT04897113 | Not specified | UNKNOWN | Study of Efficacy and Safety of the Plasmapheresis Method With Albumin Compensation Compared With the Plasmapheresis Method Without Albumin Compensation for Aging Biomarkers Correction in Men and Women Aged 40 to 55 Years Old |
| NCT07098234 | Not specified | COMPLETED | Effect of Vitamin-D as an Adjuvant to Phototherapy in Reduction of Indirect Serum Bilirubin |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| GLYCERIN | 4 | 1 |
| LEVOCARNITINE | 4 | 1 |
| STANNSOPORFIN | 3 | 3 |
| CARNITINE | 3 | 1 |
| VITAMIN B COMPLEX | 3 | 1 |
| DEXTROCARNITINE | 0 | 1 |
Related Atlas pages
- Drugs: Glycerin, Levocarnitine, Stannsoporfin, Vitamin B Complex