COG6-congenital disorder of glycosylation
MONDO:0013810Mondo
Findings
No curated finding names COG6-congenital disorder of glycosylation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Congenital onset
HPO, annotations 2026-09-02
Features
48 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- 9 of 9 reported patients
- Global developmental delayHPOHP:0001263
- 7 of 7 reported patients
- HypohidrosisHPOHP:0000966
- 6 of 6 reported patients
- Recurrent infectionsHPOHP:0002719
- 7 of 7 reported patients
- ThrombocytopeniaHPOHP:0001873
- 5 of 5 reported patients
- Type II transferrin isoform profileHPOHP:0012301
- 8 of 9 reported patients
- MicrocephalyHPOHP:0000252
- 7 of 8 reported patients
- SplenomegalyHPOHP:0001744
- 7 of 9 reported patients
- Atrial septal defectHPOHP:0001631
- 3 of 4 reported patients · Congenital onset
- Growth delayHPOHP:0001510
- 5 of 7 reported patients
- HepatomegalyHPOHP:0002240
- 5 of 8 reported patients
- Chronic diarrheaHPOHP:0002028
- 3 of 5 reported patients
Show the remaining 36
- HyperkeratosisHPOHP:0000962
- 3 of 5 reported patients
- CholestasisHPOHP:0001396
- 5 of 9 reported patients
- Elevated circulating alkaline phosphatase concentrationHPOHP:0003155
- 5 of 9 reported patients
- Patent ductus arteriosusHPOHP:0001643
- 2 of 4 reported patients · Neonatal onset
- Elevated circulating creatine kinase activityHPOHP:0003236
- 3 of 9 reported patients
- Elevated gamma-glutamyltransferase levelHPOHP:0030948
- 3 of 9 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- COG6HGNC:18621
- Definitive · ClinGen · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
6 names
Resolves to: COG6-congenital disorder of glycosylation
- Also called
- CDG syndrome type IILCDG-IILCDG2LCOG6-CDGcongenital disorder of glycosylation type 2lcongenital disorder of glycosylation type IIL