Congenital disorder of glycosylation with dilated cardiomyopathy

General Information (adopted from Orphanet):

Synonyms, Signs: CDG with dilated cardiomyopathy
Number of Symptoms 0
OrphanetNr: 371176
OMIM Id:
ICD-10: E77.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Familial dilated cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease

Comment:

This term does not characterize a disease but a group of diseases. Annotations can be found at a more specific level.

Symptom Information: Sort by abundance 

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
DOLK rs137853109 pathogenic RCV000001190.2
DOLK rs137853110 pathogenic RCV000001191.2
DOLK rs387907030 pathogenic RCV000023835.2
DOLK rs587777137 pathogenic RCV000087064.3
PGM1 rs121918371 pathogenic RCV000014620.27
PGM1 rs397515423 pathogenic RCV000032991.26
PGM1 rs398122912 pathogenic RCV000032990.25
PGM1 rs587776801 pathogenic RCV000014621.28
PGM1 rs587777401 pathogenic RCV000119799.3
PGM1 rs587777402 pathogenic RCV000119800.3
PGM1 rs587777403 pathogenic RCV000119801.3
PGM1 rs587777404 pathogenic RCV000119802.3
PGM1 rs587777405 pathogenic RCV000119803.3

Additional Information: