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IEMbase 0391: SEC23B-related Congenital dyserythropoietic anemia type 2 (CDG)

Scope

Field Value
IEMbase ID 391
Nosology 19.6.08.01
Gene SEC23B
External IDs OMIM:224100; ORPHA:98873
Generated mapping CANDIDATE; Congenital_Dyserythropoietic_Anemia.yaml#CDA II
Candidate DisMech targets Congenital_Dyserythropoietic_Anemia.yaml#CDA II
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents autosomal recessive SEC23B-related congenital dyserythropoietic anemia type 2, labeled SEC23B-CDG. Characteristic rows include anemia, dyserythropoietic anemia, increased bilirubin, positive acidified serum test/HEMPAS test, and bi-nucleated and multinucleated bone-marrow erythroblasts. Additional rows include jaundice, splenomegaly, adult cardiomyopathy, insulin-dependent diabetes mellitus, and liver cirrhosis. Serum sialotransferrins are listed as normal.

The treatment row lists hematopoietic stem cell transplant with blood and blood-forming-tissue effects.

DisMech phenotype coverage

The generated candidate is correct and should be accepted as subtype-level coverage. Local Congenital_Dyserythropoietic_Anemia.yaml includes a CDA II subtype caused by biallelic SEC23B variants, impaired COPII-dependent ER-to-Golgi vesicular trafficking, mild-to-severe normocytic anemia, hemolysis, jaundice, splenomegaly, band-3 hypoglycosylation, and bi/multinucleated mature erythroblasts. It also covers secondary iron overload and hematopoietic stem cell transplantation in the broader CDA treatment section.

IEMbase is useful for several SEC23B-CDA II lab prompts that are not always front-and-center in local prose, especially HEMPAS testing, bilirubin, normal sialotransferrins, and explicit marrow cell wording.

Concordance and completeness

Judgement: accept candidate as correct subtype mapping to Congenital_Dyserythropoietic_Anemia.yaml#CDA II.

The resources agree on SEC23B, autosomal recessive inheritance, CDA II identity, dyserythropoietic anemia, jaundice/hemolysis context, splenomegaly, and bi/multinucleated erythroblast morphology. IEMbase adds useful CDG framing and normal sialotransferrin contrast.

Curation actions

  • Treat the generated candidate as the correct mapping, with CDA II as the canonical subtype target.
  • Consider enriching local CDA II with HEMPAS/acidified-serum testing, bilirubin directionality, normal sialotransferrins, and IEMbase's diabetes, cardiomyopathy, and cirrhosis review prompts after source verification.
  • Keep hematopoietic stem cell transplant as a treatment prompt but preserve local nuance about indication and disease severity.