SLC35A1-congenital disorder of glycosylation
Findings
No curated finding names SLC35A1-congenital disorder of glycosylation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
SLC35A1-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.
Definition from the Mondo Disease Ontology (MONDO:0011342), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
14 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.
- Abnormal bleedingHPOHP:0001892
- Very frequent (80% to 99% of cases)
- Abnormal megakaryocyte morphologyHPOHP:0012143
- Very frequent (80% to 99% of cases)
- Abnormal platelet granulesHPOHP:0011883
- Very frequent (80% to 99% of cases)
- CellulitisHPOHP:0100658
- Very frequent (80% to 99% of cases)
- Decreased total neutrophil countHPOHP:0001875
- Very frequent (80% to 99% of cases)
- Giant plateletsHPOHP:0001902
- Very frequent (80% to 99% of cases)
Show the remaining 2
- ThrombocytopeniaHPOHP:0001873
- Very frequent (80% to 99% of cases)
- Recurrent bacterial infectionsHPOHP:0002718
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.
- SLC35A1HGNC:11021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2015
- Moderate · ClinGen · Autosomal recessive · 2025
Where it sits
Other names
8 names
Resolves to: SLC35A1-congenital disorder of glycosylation
- Also called
- carbohydrate deficient glycoprotein syndrome type IIfCDG syndrome type IIfCDG-IIfCDG2FCMP-sialic acid transporter deficiencycongenital disorder of glycosylation type 2fcongenital disorder of glycosylation type IIfSLC35A1-CDG