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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
2 signs/symptoms
Congenital dyserythropoietic anemia type II
Crigler-Najjar syndrome type 2

SEC23B UGT1A1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SEC23B
(0.49)
UGT1A1



Citations in the biomedical literature:


Congenital dyserythropoietic anemia type II
SEC23B
Crigler-Najjar syndrome type 2
UGT1A1



Congenital dyserythropoietic anemia type II
Crigler-Najjar syndrome type 2

Synonym(s):
- CDA II
- CDA type 2
- CDA type II
- Congenital dyserythropoietic anemia type 2
- Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)
- SEC23B-CDG

Synonym(s):
- Arias syndrome
- Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2
- Bilirubin-UGT deficiency type 2
- Hereditary unconjugated hyperbilirubinemia type 2
- UGT deficiency type 2

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hematologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hepatic disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: adult
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C536213

Crigler-Najjar syndrome type 2

Very frequent
- Autosomal recessive inheritance
- Hepatitis / icterus / cholestasis



Congenital dyserythropoietic anemia type II

(no data available)