Congenital disorder of glycosylation, type IIw: genes and variants
Congenital disorder of glycosylation, type IIw is linked to 3 analyzed proteins (SLC37A4, SLC35A2 and CACNA1D). 8 DNA variants are known to cause it; 38 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: congenital disorder of glycosylation; Congenital disorder of glycosylation, type Iw, autosomal dominant
Genes linked to Congenital disorder of glycosylation, type IIw
SLC37A4: Glucose-6-phosphate exchanger SLC37A4
It transports glucose-6-phosphate into the endoplasmic reticulum so glucose-6-phosphatase can release free glucose during fasting. Biallelic loss-of-function variants cause glycogen storage disease type Ib, with fasting hypoglycemia, hepatomegaly, neutropenia, and inflammatory bowel disease.
6 disease-causing and 38 uncertain variants in SLC37A4 are linked to Congenital disorder of glycosylation, type IIw.
SLC35A2: UDP-galactose translocator
It supplies UDP-galactose to the Golgi lumen for glycosylation of proteins and lipids. Germline loss-of-function variants cause a congenital disorder of glycosylation, while somatic mosaic brain variants are associated with cortical malformations and epilepsy.
1 disease-causing and 0 uncertain variants in SLC35A2 are linked to Congenital disorder of glycosylation, type IIw.
CACNA1D: Voltage-dependent L-type calcium channel subunit alpha-1D
It supports calcium entry in endocrine cells, neurons, and cardiac pacemaker tissue, influencing hormone secretion, neuronal excitability, and sinoatrial activity. Activating variants can cause primary aldosteronism with seizures and neurologic abnormalities, while other variants cause neurodevelopmental or hearing phenotypes.
1 disease-causing and 0 uncertain variants in CACNA1D are linked to Congenital disorder of glycosylation, type IIw.
Known disease-causing variants in Congenital disorder of glycosylation, type IIw
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SLC37A4 C183R | 183 | Transmembrane | Disease-causing (★★) |
| SLC37A4 R300H | 300 | Cytoplasmic | Disease-causing (★★) |
| SLC37A4 G339D | 339 | Transmembrane | Disease-causing (★★) |
| SLC37A4 G20D | 20 | Transmembrane | Disease-causing (★★) |
| SLC37A4 R28H | 28 | Transmembrane | Disease-causing (★★) |
| SLC37A4 G150R | 150 | Transmembrane | Disease-causing (★★) |
| SLC35A2 E103V | 103 | Transmembrane | Disease-causing (★) |
| CACNA1D F747L | 747 | II | Disease-causing |
Same protein, different disease
- Glucose-6-phosphate transport defect is also caused by SLC37A4 variants; they fall mostly in different places as the Congenital disorder of glycosylation, type IIw variants (30 disease-causing).
- SLC35A2-congenital disorder of glycosylation is also caused by SLC35A2 variants; they fall mostly in different places as the Congenital disorder of glycosylation, type IIw variants (12 disease-causing).
Diseases related to Congenital disorder of glycosylation, type IIw
- Glycogen storage disease, also linked to SLC37A4
- Glycogen storage disease due to glucose-6-phosphatase deficiency, also linked to SLC37A4
- Glucose-6-phosphate transport defect, also linked to SLC37A4
- Epilepsy, also linked to CACNA1D
- SLC35A2-congenital disorder of glycosylation, also linked to SLC35A2
- Diabetes mellitus, also linked to CACNA1D
- Phosphate transport defect, also linked to SLC37A4
- Myocardial infarction, also linked to CACNA1D
- Aldosterone-producing adenoma with seizures and neurological abnormalities, also linked to CACNA1D
- Sinoatrial node dysfunction and deafness, also linked to CACNA1D
Frequently asked questions
Which genes are linked to Congenital disorder of glycosylation, type IIw?
In CATVariant, Congenital disorder of glycosylation, type IIw is linked to 3 analyzed proteins: SLC37A4 (Glucose-6-phosphate exchanger SLC37A4), SLC35A2 (UDP-galactose translocator) and CACNA1D (Voltage-dependent L-type calcium channel subunit alpha-1D).
How many genetic variants are linked to Congenital disorder of glycosylation, type IIw?
50 variants: 8 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 38 are of uncertain significance or have conflicting reports.
Which uncertain variants in Congenital disorder of glycosylation, type IIw look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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