Crigler-najjar syndrome, type I

Preferred Label : Crigler-najjar syndrome, type I;

CISMeF acronym : HBLRCN1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hyperbilirubinemia, crigler-najjar type I; Crigler-najjar syndrome; HBLRCN1;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the uridine diphosphate glycosyltransferase 1 gene (UGT1, 191740.0001);

Laboratory abnormalities : Hyperbilirubinemia, unconjugated, 20-30mg/dl; Absence of hepatic UDP-glucuronyl-transferase; Normal liver histology; Normal liver function tests;

Prefixed ID : #218800;

Details

Origin ID

218800;

UMLS CUI

C0010324;

Broader ORDO disease(s)
- Crigler-Najjar syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Crigler-Najjar Syndrome [NCIt concept]
- Crigler-Najjar syndrome [ICD-10 Sub-category]
- Crigler-Najjar syndrome [DO Concept]
- Crigler-Najjar syndrome [ICD-10 Sub-category (who)]
- Crigler-Najjar syndrome [MedDRA Preferred Term]
- Crigler-Najjar syndrome [MeSH concept]
- Crigler-Najjar syndrome [ORDO Disease]
- Crigler-Najjar syndrome (disorder) [SNOMED CT concept]
- Crigler-Najjar syndrome type 1 [ORDO Disease]
- Crigler-Najjar syndrome type 1 [ICD-11 More detail]
- Crigler-Najjar syndrome type I [MedDRA LLT]
- Crigler-Najjar syndrome, type I (disorder) [SNOMED CT concept]
- crigler-najjar syndrome [MeSH Descriptor]
- crigler-najjar syndrome, nos [SNOMED Notion]
- crigler-najjar syndrome, type i [SNOMED Notion]
DO Cross reference
- Crigler-Najjar syndrome [DO Concept]
Genes related to phenotype
- Udp-glycosyltransferase 1 family, polypeptide a1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Encephalopathy [HPO term]
- Jaundice [HPO term]
- Kernicterus [HPO term]
- Unconjugated hyperbilirubinemia [HPO term]
Not associated HPO term(s)
- Elevated hepatic transaminase [HPO term]
ORDO concept(s)
- Crigler-Najjar syndrome [ORDO Disease]
- Crigler-Najjar syndrome type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Crigler Najjar syndrome [Disease (Nov.)]
- Crigler-Najjar Syndrome [NCIt concept]
- Crigler-Najjar syndrome [ICD-10 Sub-category (who)]
- Crigler-Najjar syndrome [ORDO Disease]
- Crigler-Najjar syndrome [MeSH concept]
- Crigler-Najjar syndrome [MedDRA Preferred Term]
- Crigler-Najjar syndrome [ICD-10 Sub-category]
- Crigler-Najjar syndrome [DO Concept]
- Crigler-Najjar syndrome [ICD-11 Sub-sub category]
- Crigler-Najjar syndrome (disorder) [SNOMED CT concept]
- Crigler-Najjar syndrome type 1 [ORDO Disease]
- Crigler-Najjar syndrome type 1 [ICD-11 More detail]
- Crigler-Najjar syndrome type I [MedDRA LLT]
- Crigler-Najjar syndrome, type I (disorder) [SNOMED CT concept]
- crigler-najjar syndrome [MeSH Descriptor]
- crigler-najjar syndrome, nos [SNOMED Notion]
- crigler-najjar syndrome, type i [SNOMED Notion]
Validated automatic mappings to NTBT
- Crigler Najjar syndrome [Disease (Nov.)]
- Crigler-Najjar syndrome [ICD-11 Sub-sub category]

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