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IEMbase 0593: CCDC115-related congenital disorder of glycosylation

Scope

Field Value
IEMbase ID 593
Nosology 18.4.07.02
Gene CCDC115
External IDs OMIM:616828; ORPHA:468684
Generated mapping CANDIDATE; ALG12_Congenital_Disorder_of_Glycosylation.yaml
Candidate DisMech targets None exact
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents CCDC115-related congenital disorder of glycosylation, also labelled CCDC115-CDG and CDG-IIo. The record is autosomal recessive, classified under disorders of multiple glycosylation pathways, has unknown treatability, and has no treatment rows.

Biochemical rows include very increased plasma alkaline phosphatase, increased plasma transaminases, apolipoprotein CIII hypoglycosylation, serum sialotransferrin type 2 pattern, decreased serum ceruloplasmin, increased serum cholesterol, and increased plasma LDL cholesterol. Clinical rows include behavioral disorder, cholestasis, facial dysmorphism, hypotonia, liver failure, long face, ptosis, seizures, hepatosplenomegaly, and psychomotor delay.

DisMech phenotype coverage

ALG12_Congenital_Disorder_of_Glycosylation.yaml is a broad CDG-neighbor candidate, not an exact CCDC115 mapping. The ALG12 entry models biallelic ALG12 mannosyltransferase deficiency, an endoplasmic-reticulum N-glycan precursor assembly defect with a type I CDG pattern. IEMbase's CCDC115 record is a distinct CDG-IIo/type II processing disorder with a different gene and biochemical profile.

Local CDG entries and modules provide useful background for glycosylation biology, but no exact CCDC115-CDG target was identified.

Concordance and completeness

Judgement: true local gap; reject ALG12-CDG as exact coverage.

The candidate captures the general CDG class but fails the gene, subtype, and glycosylation-pattern checks. IEMbase also adds a distinctive liver/lipid/copper protein signal that should not be imported into ALG12-CDG without source-level support.

Curation actions

  • Create or identify an exact CCDC115-CDG / CDG-IIo target before import.
  • Reject ALG12_Congenital_Disorder_of_Glycosylation.yaml as an exact mapping.
  • Preserve type 2 sialotransferrin, ApoCIII hypoglycosylation, alkaline phosphatase, transaminase, ceruloplasmin, cholesterol/LDL, cholestasis, liver failure, hepatosplenomegaly, ptosis, seizure, and psychomotor-delay prompts.