ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE II; CDAN2

Question 1

What is  ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE II; CDAN2?

Accepted Answer

rare
autosomal recessive
mutation in the SEC23B gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Kongenitale dyserythropoietische Anämie Typ II (CDA II)

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 224100

Question 4

Which enzymes are involved?

Accepted Answer

Protein transport protein Sec23B

Disease	ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE II; CDAN2
Synonym	DYSERYTHROPOIETIC ANEMIA, HEMPAS TYPE
OMIM	224100 OMIM = Online Mendelian Inheritance of Men
Orphanet	98873
Protein (UniProt)	Protein transport protein Sec23B
Gene locus	20pp11.23 Detail information to gene locus by the National Center for Biotechnology Information NCBI: Congenital dyserythropoietic anemia II
ICD	D64.4
Summary	rare autosomal recessive mutation in the SEC23B gene
Laboratory findings	Bilirubin, unconjugated inc (serum) Hemoglobine dec (blood)
Symptoms	anemia cardiomyopathy cirrhosis or fibrosis of liver diabetes mellitus gallstones, cholelithiasis hemolysis jaundice onset, adolescent onset, childhood onset, fetus onset, infancy onset, neonatal onset, variable age splenomegaly (large spleen)