PGM1-CDG

General Information (adopted from Orphanet):

Synonyms, Signs: CDG1T
CDG It
CDGIt
Number of Symptoms 35
OrphanetNr: 319646
OMIM Id: 614921
ICD-10: E77.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
24997537 [IBIS]
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 hepatic involvement
 -Rare genetic disease
 -Rare hepatic disease
Disorder of protein N-glycosylation
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000044) Hypogonadotrophic hypogonadism 24997537 IBIS 56 / 7739
2
 (HPO:0000193) Bifid uvula Frequent [IBIS] 84% (n=19) 24499211 IBIS 66 / 7739
3
 (HPO:0000201) Pierre-Robin sequence 24997537 IBIS 20 / 7739
4
 (HPO:0000274) Small face 26043514 IBIS 18 / 7739
5
 (HPO:0000175) Cleft palate 24997537 IBIS 349 / 7739
6
 (HPO:0011220) Prominent forehead 26043514 IBIS 137 / 7739
7
 (HPO:0001999) Abnormal facial shape 22976764 IBIS 169 / 7739
8
 (HPO:0001256) Intellectual disability, mild 24878975 IBIS 141 / 7739
9
 (HPO:0012378) Fatigue 22492991 IBIS 50 / 7739
10
 (HPO:0000825) Hyperinsulinemic hypoglycemia 24997537 IBIS 18 / 7739
11
 (HPO:0000821) Hypothyroidism 26303607 IBIS 141 / 7739
12
 (HPO:0100749) Chest pain 26303607 IBIS 92 / 7739
13
 (HPO:0200123) Chronic hepatitis 22492991 IBIS 4 / 7739
14
 (HPO:0002910) Elevated hepatic transaminases 26303607 IBIS 158 / 7739
15
 (HPO:0004322) Short stature 26303607 IBIS 1232 / 7739
16
 (HPO:0001510) Growth delay 24997537 IBIS 295 / 7739
17
 (HPO:0001695) Cardiac arrest 24499211 IBIS 87 / 7739
18
 (HPO:0001644) Dilated cardiomyopathy 26303607 IBIS 141 / 7739
19
 (HPO:0001649) Tachycardia 22492991 IBIS 53 / 7739
20
 (HPO:0005305) Cerebral venous thrombosis 22492991 IBIS 7 / 7739
21
 (HPO:0001976) Reduced antithrombin III activity 24997537 IBIS 10 / 7739
22
 (HPO:0003256) Abnormality of the coagulation cascade 24997537 IBIS 19 / 7739
23
 (HPO:0002047) Malignant hyperthermia 24499211 IBIS 20 / 7739
24
 (HPO:0003236) Elevated serum creatine phosphokinase 24997537 IBIS 214 / 7739
25
 (HPO:0001943) Hypoglycemia 24997537 IBIS 131 / 7739
26
 (HPO:0012346) Abnormal protein glycosylation 24997537 IBIS 1 / 7739
27
 (HPO:0003642) Type I transferrin isoform profile 26307094 IBIS 16 / 7739
28
 (HPO:0012301) Type II transferrin isoform profile 26307094 IBIS 6 / 7739
29
 (HPO:0002094) Dyspnea 22492991 IBIS 132 / 7739
30
 (HPO:0003201) Rhabdomyolysis 26303607 IBIS 27 / 7739
31
 (HPO:0009051) Increased muscle glycogen content 24997537 IBIS 8 / 7739
32
 (HPO:0009020) Exercise-induced muscle fatigue 26303607 IBIS 4 / 7739
33
 (HPO:0012240) Increased intramyocellular lipid droplets 24997537 IBIS 7 / 7739
34
 (HPO:0030353) Decreased serum insulin-like growth factor 1 24499211 IBIS 2 / 7739
35
 (OMIM) Some increase in monosialo- and trisialotransferrin (type 1/2 pattern) 22492991 IBIS 1 / 7739

Associated genes:

PGM1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
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:

Clinical Description OMIM Timal et al. (2012) reported 2 unrelated children with congenital disorder of glycosylation type It. One boy was adopted and of Colombian origin. He had cerebral thrombosis and dilated cardiomyopathy, and died at age 8 years. Laboratory studies ...
Molecular genetics OMIM In 2 unrelated patients with CDG1T, Timal et al. (2012) identified 2 different homozygous mutations in the PGM1 gene (171900.0003 and 171900.0004, respectively). The mutations were identified by exome sequencing and confirmed by Sanger sequencing. Studies in patient ...