CDG1T
MCID: CNG379
MIFTS: 35

Congenital Disorder of Glycosylation, Type It (CDG1T)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin 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 57 13
Glycogen Storage Disease Xiv 57 75 13 73
Congenital Disorder of Glycosylation Type 1t 29 6
Phosphoglucomutase 1 Deficiency 57 75
Pgm1 Deficiency 57 75
Gsd Xiv 57 75
Cdg It 57 75
Cdg1t 57 75
Cdgit 57 75
Gsd14 57 75
Glycosylation, Congenital Disorder of, Type It 40
Congenital Disorder of Glycosylation Type It 75
Congenital Disorder of Glycosylation 1t 75
Glycogen Storage Disease Xiv; Gsd14 57
Glycogen Storage Disease Type Xiv 37
Phosphoglucomutase-1 13
Cdg It; Cdgit 57
Cdg-It 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
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 : 75 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 6-phosphogluconate dehydrogenase deficiency and fetal macrosomia, and has symptoms including muscle weakness and fatigue. 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, skin and bone, and related phenotypes are muscle weakness and short stature

OMIM : 57 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 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 6-phosphogluconate dehydrogenase deficiency 10.2
2 fetal macrosomia 10.0
3 secondary adrenal insufficiency 10.0

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type It

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
muscle weakness
fatigue
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:

32 (show all 21)
# Description HPO Frequency HPO Source Accession
1 muscle weakness 32 HP:0001324
2 short stature 32 HP:0004322
3 delayed puberty 32 HP:0000823
4 fatigue 32 occasional (7.5%) HP:0012378
5 dyspnea 32 occasional (7.5%) HP:0002094
6 elevated serum creatine phosphokinase 32 occasional (7.5%) HP:0003236
7 hypoglycemia 32 HP:0001943
8 hepatitis 32 HP:0012115
9 cleft palate 32 occasional (7.5%) HP:0000175
10 micrognathia 32 occasional (7.5%) HP:0000347
11 hepatic steatosis 32 HP:0001397
12 dilated cardiomyopathy 32 HP:0001644
13 bifid uvula 32 HP:0000193
14 exercise intolerance 32 HP:0003546
15 tachycardia 32 HP:0001649
16 pierre-robin sequence 32 occasional (7.5%) HP:0000201
17 rhabdomyolysis 32 occasional (7.5%) HP:0003201
18 cerebral venous thrombosis 32 occasional (7.5%) HP:0005305
19 type i transferrin isoform profile 32 HP:0003642
20 elevated hepatic transaminase 32 HP:0002910
21 reduced antithrombin iii activity 32 occasional (7.5%) HP:0001976

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


muscle weakness, fatigue

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 Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of ORL-1G (D-galactose) in Patients With Glycogen Storage Disease Type 14 Recruiting NCT03404856 Phase 1, Phase 2 ORL-1G - D-galactose
2 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269 Not Applicable

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 29 PGM1

Anatomical Context for Congenital Disorder of Glycosylation, Type It

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

41
Liver, Skin, Bone, Eye

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
Phosphoglucomutase-1 deficiency: Intrafamilial clinical variability and common secondary adrenal insufficiency. ( 26768186 )
2015
3
Multiple phenotypes in phosphoglucomutase 1 deficiency. ( 24499211 )
2014
4
Compromised catalysis and potential folding defects in in vitro studies of missense mutants associated with hereditary phosphoglucomutase 1 deficiency. ( 25288802 )
2014
5
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:

75 (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 rs130065177
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 rs130102179
13 PGM1 p.Leu516Pro VAR_071645 rs587777401

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

6 (show top 50) (show all 96)
# 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.343A> G (p.Thr115Ala) single nucleotide variant Pathogenic rs121918371 GRCh38 Chromosome 1, 63629521: 63629521
3 PGM1 NM_002633.2(PGM1): c.1145-1G> C single nucleotide variant Pathogenic rs587776801 GRCh37 Chromosome 1, 64114187: 64114187
4 PGM1 NM_002633.2(PGM1): c.1145-1G> C single nucleotide variant Pathogenic rs587776801 GRCh38 Chromosome 1, 63648516: 63648516
5 PGM1 NM_002633.2(PGM1): c.361G> C (p.Gly121Arg) single nucleotide variant Pathogenic rs398122912 GRCh37 Chromosome 1, 64095210: 64095210
6 PGM1 NM_002633.2(PGM1): c.361G> C (p.Gly121Arg) single nucleotide variant Pathogenic rs398122912 GRCh38 Chromosome 1, 63629539: 63629539
7 PGM1 NM_002633.2(PGM1): c.1507C> T (p.Arg503Ter) single nucleotide variant Pathogenic rs397515423 GRCh37 Chromosome 1, 64120045: 64120045
8 PGM1 NM_002633.2(PGM1): c.1507C> T (p.Arg503Ter) single nucleotide variant Pathogenic rs397515423 GRCh38 Chromosome 1, 63654374: 63654374
9 PGM1 NM_002633.2(PGM1): c.1547T> C (p.Leu516Pro) single nucleotide variant Pathogenic rs587777401 GRCh37 Chromosome 1, 64120085: 64120085
10 PGM1 NM_002633.2(PGM1): c.1547T> C (p.Leu516Pro) single nucleotide variant Pathogenic rs587777401 GRCh38 Chromosome 1, 63654414: 63654414
11 PGM1 NM_002633.2(PGM1): c.112A> T (p.Asn38Tyr) single nucleotide variant Pathogenic rs587777402 GRCh37 Chromosome 1, 64059271: 64059271
12 PGM1 NM_002633.2(PGM1): c.112A> T (p.Asn38Tyr) single nucleotide variant Pathogenic rs587777402 GRCh38 Chromosome 1, 63593600: 63593600
13 PGM1 NM_002633.2(PGM1): c.184G> C (p.Asp62His) single nucleotide variant Pathogenic rs587777403 GRCh37 Chromosome 1, 64059343: 64059343
14 PGM1 NM_002633.2(PGM1): c.184G> C (p.Asp62His) single nucleotide variant Pathogenic rs587777403 GRCh38 Chromosome 1, 63593672: 63593672
15 PGM1 NM_002633.2(PGM1): c.787G> T (p.Asp263Tyr) single nucleotide variant Pathogenic rs587777404 GRCh37 Chromosome 1, 64100604: 64100604
16 PGM1 NM_002633.2(PGM1): c.787G> T (p.Asp263Tyr) single nucleotide variant Pathogenic rs587777404 GRCh38 Chromosome 1, 63634933: 63634933
17 PGM1 NM_002633.2(PGM1): c.661delC (p.Arg221Valfs) deletion Pathogenic rs587777405 GRCh37 Chromosome 1, 64097432: 64097432
18 PGM1 NM_002633.2(PGM1): c.661delC (p.Arg221Valfs) deletion Pathogenic rs587777405 GRCh38 Chromosome 1, 63631761: 63631761
19 PGM1 NM_002633.2(PGM1): c.1103C> T (p.Ala368Val) single nucleotide variant Uncertain significance rs145972303 GRCh37 Chromosome 1, 64104430: 64104430
20 PGM1 NM_002633.2(PGM1): c.1103C> T (p.Ala368Val) single nucleotide variant Uncertain significance rs145972303 GRCh38 Chromosome 1, 63638759: 63638759
21 PGM1 NM_001172818.1(PGM1): c.1161C> A (p.Ser387Arg) single nucleotide variant Uncertain significance rs200407907 GRCh37 Chromosome 1, 64104434: 64104434
22 PGM1 NM_001172818.1(PGM1): c.1161C> A (p.Ser387Arg) single nucleotide variant Uncertain significance rs200407907 GRCh38 Chromosome 1, 63638763: 63638763
23 PGM1 NM_002633.2(PGM1): c.399T> C (p.Ile133=) single nucleotide variant Benign/Likely benign rs1126727 GRCh37 Chromosome 1, 64095248: 64095248
24 PGM1 NM_002633.2(PGM1): c.399T> C (p.Ile133=) single nucleotide variant Benign/Likely benign rs1126727 GRCh38 Chromosome 1, 63629577: 63629577
25 PGM1 NM_002633.2(PGM1): c.985C> T (p.Arg329Cys) single nucleotide variant Uncertain significance rs778199808 GRCh37 Chromosome 1, 64102016: 64102016
26 PGM1 NM_002633.2(PGM1): c.985C> T (p.Arg329Cys) single nucleotide variant Uncertain significance rs778199808 GRCh38 Chromosome 1, 63636345: 63636345
27 PGM1 NM_002633.2(PGM1): c.1144+10A> G single nucleotide variant Conflicting interpretations of pathogenicity rs886046482 GRCh38 Chromosome 1, 63638810: 63638810
28 PGM1 NM_002633.2(PGM1): c.1144+10A> G single nucleotide variant Conflicting interpretations of pathogenicity rs886046482 GRCh37 Chromosome 1, 64104481: 64104481
29 PGM1 NM_002633.2(PGM1): c.1195C> G (p.Leu399Val) single nucleotide variant Uncertain significance rs200065327 GRCh38 Chromosome 1, 63648567: 63648567
30 PGM1 NM_002633.2(PGM1): c.1195C> G (p.Leu399Val) single nucleotide variant Uncertain significance rs200065327 GRCh37 Chromosome 1, 64114238: 64114238
31 PGM1 NM_002633.2(PGM1): c.1411G> A (p.Ala471Thr) single nucleotide variant Uncertain significance rs148979330 GRCh38 Chromosome 1, 63651799: 63651799
32 PGM1 NM_002633.2(PGM1): c.1411G> A (p.Ala471Thr) single nucleotide variant Uncertain significance rs148979330 GRCh37 Chromosome 1, 64117470: 64117470
33 PGM1 NM_002633.2(PGM1): c.*37G> A single nucleotide variant Likely benign rs61765314 GRCh38 Chromosome 1, 63659712: 63659712
34 PGM1 NM_002633.2(PGM1): c.*37G> A single nucleotide variant Likely benign rs61765314 GRCh37 Chromosome 1, 64125383: 64125383
35 PGM1 NM_002633.2(PGM1): c.*198C> T single nucleotide variant Likely benign rs10909 GRCh38 Chromosome 1, 63659873: 63659873
36 PGM1 NM_002633.2(PGM1): c.*198C> T single nucleotide variant Likely benign rs10909 GRCh37 Chromosome 1, 64125544: 64125544
37 PGM1 NM_002633.2(PGM1): c.*236T> C single nucleotide variant Uncertain significance rs534628770 GRCh38 Chromosome 1, 63659911: 63659911
38 PGM1 NM_002633.2(PGM1): c.*236T> C single nucleotide variant Uncertain significance rs534628770 GRCh37 Chromosome 1, 64125582: 64125582
39 PGM1 NM_002633.2(PGM1): c.*357A> G single nucleotide variant Uncertain significance rs886046484 GRCh38 Chromosome 1, 63660032: 63660032
40 PGM1 NM_002633.2(PGM1): c.*357A> G single nucleotide variant Uncertain significance rs886046484 GRCh37 Chromosome 1, 64125703: 64125703
41 PGM1 NM_002633.2(PGM1): c.708C> G (p.Ile236Met) single nucleotide variant Uncertain significance rs200237046 GRCh37 Chromosome 1, 64100525: 64100525
42 PGM1 NM_002633.2(PGM1): c.708C> G (p.Ile236Met) single nucleotide variant Uncertain significance rs200237046 GRCh38 Chromosome 1, 63634854: 63634854
43 PGM1 NM_002633.2(PGM1): c.900T> C (p.His300=) single nucleotide variant Conflicting interpretations of pathogenicity rs145807501 GRCh37 Chromosome 1, 64101931: 64101931
44 PGM1 NM_002633.2(PGM1): c.900T> C (p.His300=) single nucleotide variant Conflicting interpretations of pathogenicity rs145807501 GRCh38 Chromosome 1, 63636260: 63636260
45 PGM1 NM_002633.2(PGM1): c.1258T> C (p.Tyr420His) single nucleotide variant Benign rs11208257 GRCh38 Chromosome 1, 63648630: 63648630
46 PGM1 NM_002633.2(PGM1): c.1258T> C (p.Tyr420His) single nucleotide variant Benign rs11208257 GRCh37 Chromosome 1, 64114301: 64114301
47 PGM1 NM_002633.2(PGM1): c.1280+7C> T single nucleotide variant Benign/Likely benign rs72922610 GRCh38 Chromosome 1, 63648659: 63648659
48 PGM1 NM_002633.2(PGM1): c.1280+7C> T single nucleotide variant Benign/Likely benign rs72922610 GRCh37 Chromosome 1, 64114330: 64114330
49 PGM1 NM_002633.2(PGM1): c.1501G> A (p.Val501Ile) single nucleotide variant Benign/Likely benign rs6676290 GRCh38 Chromosome 1, 63654368: 63654368
50 PGM1 NM_002633.2(PGM1): c.1501G> A (p.Val501Ile) single nucleotide variant Benign/Likely benign rs6676290 GRCh37 Chromosome 1, 64120039: 64120039

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:

37
# 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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