MCID: CNG379
MIFTS: 34

Congenital Disorder of Glycosylation, Type It

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Neuronal diseases, Endocrine diseases, Fetal diseases, Liver diseases, Muscle diseases, Bone diseases, Ear diseases, Cardiovascular diseases, Skin diseases, Nephrological diseases, Gastrointestinal diseases, Blood diseases, Mental diseases

Aliases & Classifications for Congenital Disorder of Glycosylation, Type It

MalaCards integrated aliases for Congenital Disorder of Glycosylation, Type It:

Name: Congenital Disorder of Glycosylation, Type It 53 13
Glycogen Storage Disease Xiv 53 71 13 69
Phosphoglucomutase 1 Deficiency 53 71
Pgm1 Deficiency 53 71
Gsd Xiv 53 71
Cdg It 53 71
Cdg1t 53 71
Cdgit 53 71
Gsd14 53 71
Congenital Disorder of Glycosylation Type It 71
Congenital Disorder of Glycosylation Type 1t 28
Congenital Disorder of Glycosylation 1t 71
Glycogen Storage Disease Xiv; Gsd14 53
Glycogen Storage Disease Type Xiv 36
Phosphoglucomutase-1 13
Cdg It; Cdgit 53
Cdg-It 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype and severity
increased susceptibility to malignant hyperthermia


HPO:

31
congenital disorder of glycosylation, type it:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Congenital Disorder of Glycosylation, Type It

UniProtKB/Swiss-Prot : 71 Congenital disorder of glycosylation 1T: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.

MalaCards based summary : Congenital Disorder of Glycosylation, Type It, also known as glycogen storage disease xiv, is related to fetal macrosomia and secondary adrenal insufficiency, and has symptoms including fatigue, dyspnea and muscle weakness. An important gene associated with Congenital Disorder of Glycosylation, Type It is PGM1 (Phosphoglucomutase 1), and among its related pathways/superpathways are Glycolysis / Gluconeogenesis and Starch and sucrose metabolism. The drug Pharmaceutical Solutions has been mentioned in the context of this disorder. Affiliated tissues include liver.

OMIM : 53 Congenital disorder of glycosylation type It (CDG1T) is an autosomal recessive disorder characterized by a wide range of clinical manifestations and severity. The most common features include cleft lip and bifid uvula, apparent at birth, followed by hepatopathy, intermittent hypoglycemia, short stature, and exercise intolerance, often accompanied by increased serum creatine kinase. Less common features include rhabdomyolysis, dilated cardiomyopathy, and hypogonadotropic hypogonadism (summary by Tegtmeyer et al., 2014). For a discussion of the classification of CDGs, see CDG1A (212065). (614921)

Related Diseases for Congenital Disorder of Glycosylation, Type It

Diseases in the Congenital Disorder of Glycosylation, Type in family:

Congenital Disorder of Glycosylation, Type Ia Congenital Disorder of Glycosylation, Type Iia
Congenital Disorder of Glycosylation, Type I/iix Congenital Disorder of Glycosylation, Type Iic
Congenital Disorder of Glycosylation, Type Iim Congenital Disorder of Glycosylation, Type Iy
Congenital Disorder of Glycosylation, Type Id Congenital Disorder of Glycosylation, Type Ib
Congenital Disorder of Glycosylation, Type Ic Congenital Disorder of Glycosylation, Type Iif
Congenital Disorder of Glycosylation, Type Iib Congenital Disorder of Glycosylation, Type Iid
Congenital Disorder of Glycosylation, Type Ig Congenital Disorder of Glycosylation, Type Ii
Congenital Disorder of Glycosylation, Type Ij Congenital Disorder of Glycosylation, Type Ih
Congenital Disorder of Glycosylation, Type Ik Congenital Disorder of Glycosylation, Type Il
Congenital Disorder of Glycosylation, Type Ie Congenital Disorder of Glycosylation, Type if
Congenital Disorder of Glycosylation, Type Im Congenital Disorder of Glycosylation, Type Iih
Congenital Disorder of Glycosylation, Type Iig Congenital Disorder of Glycosylation, Type Iq
Congenital Disorder of Glycosylation, Type Io Congenital Disorder of Glycosylation, Type Iij
Congenital Disorder of Glycosylation, Type Iii Congenital Disorder of Glycosylation, Type Ip
Congenital Disorder of Glycosylation, Type Ir Congenital Disorder of Glycosylation, Type Iil
Congenital Disorder of Glycosylation, Type Iik Congenital Disorder of Glycosylation, Type It
Congenital Disorder of Glycosylation, Type Iu Congenital Disorder of Glycosylation, Type Iw
Congenital Disorder of Glycosylation, Type Ix Congenital Disorder of Glycosylation, Type Iin
Congenital Disorder of Glycosylation, Type Iio Congenital Disorder of Glycosylation, Type Iip
Congenital Disorder of Glycosylation, Type Iiq

Diseases related to Congenital Disorder of Glycosylation, Type It via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 fetal macrosomia 9.9
2 secondary adrenal insufficiency 9.9
3 congenital disorder of glycosylation, type in 9.7

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type It

Symptoms via clinical synopsis from OMIM:

53
Muscle Soft Tissue:
fatigue
muscle weakness
exercise intolerance
glycogen accumulation seen on biopsy
rhabdomyolysis (in some patients) endocrine : hypogonadotropic hypogonadism (rare)
more
Head And Neck Mouth:
cleft palate
bifid uvula

Cardiovascular Heart:
tachycardia
dilated cardiomyopathy (in some patients)

Abdomen Liver:
steatosis
hepatopathy
fibrosis
hepatitis, chronic
glycogen accumulation seen on biopsy

Respiratory:
dyspnea (rare)

Growth Height:
short stature

Head And Neck Face:
micrognathia
pierre-robin sequence

Laboratory Abnormalities:
increased serum creatine kinase
abnormal liver enzymes
decreased phosphoglucomutase 1 (pgm1) activity (less than 10% of normal values)
decreased antithrombin iii (rare)
abnormal isoelectric focusing of serum transferrin (type 1 pattern) loss of complete n-glycans
more
Cardiovascular Vascular:
cerebral thrombosis (rare)


Clinical features from OMIM:

614921

Human phenotypes related to Congenital Disorder of Glycosylation, Type It:

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 fatigue 31 occasional (7.5%) HP:0012378
2 dyspnea 31 occasional (7.5%) HP:0002094
3 muscle weakness 31 HP:0001324
4 short stature 31 HP:0004322
5 delayed puberty 31 HP:0000823
6 elevated serum creatine phosphokinase 31 occasional (7.5%) HP:0003236
7 hypoglycemia 31 HP:0001943
8 hepatitis 31 HP:0012115
9 cleft palate 31 occasional (7.5%) HP:0000175
10 micrognathia 31 occasional (7.5%) HP:0000347
11 hepatic steatosis 31 HP:0001397
12 elevated hepatic transaminases 31 HP:0002910
13 muscle cramps 31 HP:0003394
14 bifid uvula 31 HP:0000193
15 dilated cardiomyopathy 31 HP:0001644
16 exercise intolerance 31 HP:0003546
17 tachycardia 31 HP:0001649
18 pierre-robin sequence 31 occasional (7.5%) HP:0000201
19 pelvic girdle muscle weakness 31 HP:0003749
20 myoglobinuria 31 HP:0002913
21 rhabdomyolysis 31 occasional (7.5%) HP:0003201
22 cerebral venous thrombosis 31 occasional (7.5%) HP:0005305
23 type i transferrin isoform profile 31 HP:0003642
24 reduced antithrombin iii activity 31 occasional (7.5%) HP:0001976

UMLS symptoms related to Congenital Disorder of Glycosylation, Type It:


fatigue, muscle weakness

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type It

Drugs for Congenital Disorder of Glycosylation, Type It (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269

Search NIH Clinical Center for Congenital Disorder of Glycosylation, Type It

Genetic Tests for Congenital Disorder of Glycosylation, Type It

Genetic tests related to Congenital Disorder of Glycosylation, Type It:

# Genetic test Affiliating Genes
1 Congenital Disorder of Glycosylation Type 1t 28

Anatomical Context for Congenital Disorder of Glycosylation, Type It

MalaCards organs/tissues related to Congenital Disorder of Glycosylation, Type It:

38
Liver

Publications for Congenital Disorder of Glycosylation, Type It

Articles related to Congenital Disorder of Glycosylation, Type It:

# Title Authors Year
1
Induced structural disorder as a molecular mechanism for enzyme dysfunction in phosphoglucomutase 1 deficiency. ( 26972339 )
2016
2
Multiple phenotypes in phosphoglucomutase 1 deficiency. ( 24499211 )
2014
3
Compromised catalysis and potential folding defects in in vitro studies of missense mutants associated with hereditary phosphoglucomutase 1 deficiency. ( 25288802 )
2014
4
Muscle glycogenosis due to phosphoglucomutase 1 deficiency. ( 19625727 )
2009

Variations for Congenital Disorder of Glycosylation, Type It

UniProtKB/Swiss-Prot genetic disease variations for Congenital Disorder of Glycosylation, Type It:

71 (show all 13)
# Symbol AA change Variation ID SNP ID
1 PGM1 p.Thr115Ala VAR_062280 rs121918371
2 PGM1 p.Gly121Arg VAR_069219 rs398122912
3 PGM1 p.Thr19Ala VAR_071635
4 PGM1 p.Asn38Tyr VAR_071636 rs587777402
5 PGM1 p.Gln41Arg VAR_071637
6 PGM1 p.Asp62His VAR_071638 rs587777403
7 PGM1 p.Asp263Gly VAR_071639
8 PGM1 p.Asp263Tyr VAR_071640 rs587777404
9 PGM1 p.Gly291Arg VAR_071641 rs772768778
10 PGM1 p.Gly330Arg VAR_071642 rs777164338
11 PGM1 p.Glu377Lys VAR_071643
12 PGM1 p.Glu388Lys VAR_071644
13 PGM1 p.Leu516Pro VAR_071645 rs587777401

ClinVar genetic disease variations for Congenital Disorder of Glycosylation, Type It:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PGM1 NM_002633.2(PGM1): c.343A> G (p.Thr115Ala) single nucleotide variant Pathogenic rs121918371 GRCh37 Chromosome 1, 64095192: 64095192
2 PGM1 NM_002633.2(PGM1): c.1145-1G> C single nucleotide variant Pathogenic rs587776801 GRCh37 Chromosome 1, 64114187: 64114187
3 PGM1 NM_002633.2(PGM1): c.361G> C (p.Gly121Arg) single nucleotide variant Pathogenic rs398122912 GRCh37 Chromosome 1, 64095210: 64095210
4 PGM1 NM_002633.2(PGM1): c.1507C> T (p.Arg503Ter) single nucleotide variant Pathogenic rs397515423 GRCh37 Chromosome 1, 64120045: 64120045
5 PGM1 NM_002633.2(PGM1): c.1547T> C (p.Leu516Pro) single nucleotide variant Pathogenic rs587777401 GRCh37 Chromosome 1, 64120085: 64120085
6 PGM1 NM_002633.2(PGM1): c.112A> T (p.Asn38Tyr) single nucleotide variant Pathogenic rs587777402 GRCh37 Chromosome 1, 64059271: 64059271
7 PGM1 NM_002633.2(PGM1): c.184G> C (p.Asp62His) single nucleotide variant Pathogenic rs587777403 GRCh37 Chromosome 1, 64059343: 64059343
8 PGM1 NM_002633.2(PGM1): c.787G> T (p.Asp263Tyr) single nucleotide variant Pathogenic rs587777404 GRCh37 Chromosome 1, 64100604: 64100604
9 PGM1 NM_002633.2(PGM1): c.661delC (p.Arg221Valfs) deletion Pathogenic rs587777405 GRCh37 Chromosome 1, 64097432: 64097432

Expression for Congenital Disorder of Glycosylation, Type It

Search GEO for disease gene expression data for Congenital Disorder of Glycosylation, Type It.

Pathways for Congenital Disorder of Glycosylation, Type It

Pathways related to Congenital Disorder of Glycosylation, Type It according to KEGG:

36
# Name Kegg Source Accession
1 Glycolysis / Gluconeogenesis hsa00010
2 Starch and sucrose metabolism hsa00500
3 Amino sugar and nucleotide sugar metabolism hsa00520

GO Terms for Congenital Disorder of Glycosylation, Type It

Sources for Congenital Disorder of Glycosylation, Type It

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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