DPM3-CDG

General Information (adopted from Orphanet):

Synonyms, Signs: CDG1(DPM3)
CDG1O
CDG Io
CDGIo
CDG syndrome type Io
Congenital disorder of glycosylation type Io
CDG-Io
Carbohydrate deficient glycoprotein syndrome type Io
Number of Symptoms 16
OrphanetNr: 263494
OMIM Id: 612937
ICD-10: E77.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 0.1 of 100 000
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital disorder of glycosylation with dilated cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease
Congenital disorder of glycosylation with neurological involvement
 -Rare genetic disease
 -Rare neurologic disease
Congenital muscular dystrophy due to dystroglycanopathy
 -Rare genetic disease
 -Rare neurologic disease
Disorder of multiple glycosylation
 -Rare genetic disease

Comment:

This mild Dol-P-Man (dolichol-phosphate-mannose) biosynthesis defect due to DPM3 mutations is a cause for alpha-dystroglycanopathy, bridging the congenital disorders of glycosylation with the dystroglycanopathies (PMID:19576565).

Symptom Information: Sort by abundance 

1
 (HPO:0002515) Waddling gait 19576565 IBIS 56 / 7739
2
 (HPO:0001315) Reduced tendon reflexes 19576565 IBIS 160 / 7739
3
 (HPO:0003487) Babinski sign 19576565 IBIS 179 / 7739
4
 (HPO:0002910) Elevated hepatic transaminases 19576565 IBIS 158 / 7739
5
 (HPO:0001644) Dilated cardiomyopathy 19576565 IBIS 141 / 7739
6
 (HPO:0003236) Elevated serum creatine phosphokinase 19576565 IBIS 214 / 7739
7
 (HPO:0003642) Type I transferrin isoform profile 19576565 IBIS 16 / 7739
8
 (HPO:0003160) Abnormal isoelectric focusing of serum transferrin 19576565 IBIS 10 / 7739
9
 (HPO:0001252) Muscular hypotonia 19576565 IBIS 990 / 7739
10
 (HPO:0012084) Abnormality of skeletal muscle fiber size 19576565 IBIS 1 / 7739
11
 (HPO:0003560) Muscular dystrophy 19576565 IBIS 88 / 7739
12
 (HPO:0003557) Increased variability in muscle fiber diameter 19576565 IBIS 24 / 7739
13
 (HPO:0003713) Muscle fiber necrosis 19576565 IBIS 8 / 7739
14
 (HPO:0003805) Rimmed vacuoles 19576565 IBIS 22 / 7739
15
 (HPO:0001324) Muscle weakness 19576565 IBIS 859 / 7739
16
 (HPO:0030046) Hypoglycosylation of alpha-dystroglycan 19576565 IBIS 3 / 7739

Associated genes:

DPM3;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
DPM3 rs121908155 pathogenic RCV000004967.2

Additional Information:

Clinical Description OMIM Lefeber et al. (2009) reported an 27-year-old Greek woman who presented at age 11 years with mild muscle weakness and waddling gait. At age 20, she was diagnosed with a dilated cardiomyopathy after episodes of precordial pain. However, ...
Molecular genetics OMIM In a Greek female patient with congenital disorder of glycosylation type Io, Lefeber et al. (2009) identified a homozygous mutation in the DPM3 gene (L85S; 605951.0001). The authors noted that 4 biosynthetic pathways depend on DPM activity, including ...