MCID: CNG379
MIFTS: 31

Congenital Disorder of Glycosylation, Type It

Categories: Genetic diseases, Neuronal diseases, Liver diseases, Metabolic diseases, Rare diseases, Gastrointestinal diseases, Endocrine diseases, Ear diseases, Fetal diseases, Bone diseases, Nephrological diseases, Cardiovascular diseases, Skin diseases, Muscle diseases, Blood 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 54 13
Glycogen Storage Disease Xiv 71 13 69
Phosphoglucomutase 1 Deficiency 24 71
Gsd Xiv 24 71
Congenital Disorder of Glycosylation Type It 71
Congenital Disorder of Glycosylation Type 1t 29
Congenital Disorder of Glycosylation 1t 71
Glycogen Storage Disease Type Xiv 24
Phosphoglucomutase-1 13
Pgm1 Deficiency 71
Cdg It 71
Cdg-It 71
Cdgit 71
Gsd14 71
Cdg1t 71

Characteristics:

OMIM:

54
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 : 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 short stature, micrognathia and cleft palate. An important gene associated with Congenital Disorder of Glycosylation, Type It is PGM1 (Phosphoglucomutase 1). Affiliated tissues include liver.

OMIM : 54
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 Ir Congenital Disorder of Glycosylation, Type It
Congenital Disorder of Glycosylation, Type Ic Congenital Disorder of Glycosylation, Type Io
Congenital Disorder of Glycosylation, Type Iiq Congenital Disorder of Glycosylation, Type Iib
Congenital Disorder of Glycosylation, Type Iio Congenital Disorder of Glycosylation, Type Ix
Congenital Disorder of Glycosylation, Type Id Congenital Disorder of Glycosylation, Type Iq
Congenital Disorder of Glycosylation, Type Iik Congenital Disorder of Glycosylation, Type Iin
Congenital Disorder of Glycosylation, Type Iif Congenital Disorder of Glycosylation, Type 1aa
Congenital Disorder of Glycosylation, Type Iii Congenital Disorder of Glycosylation, Type Iid
Congenital Disorder of Glycosylation, Type Ii Congenital Disorder of Glycosylation, Type Im
Congenital Disorder of Glycosylation, Type Iu Congenital Disorder of Glycosylation, Type Ih
Congenital Disorder of Glycosylation, Type Iic Congenital Disorder of Glycosylation, Type Il
Congenital Disorder of Glycosylation, Type Ij Congenital Disorder of Glycosylation, Type Iw
Congenital Disorder of Glycosylation, Type Iil Congenital Disorder of Glycosylation, Type Ip
Congenital Disorder of Glycosylation, Type Iia Congenital Disorder of Glycosylation, Type Ib
Congenital Disorder of Glycosylation, Type Ik Congenital Disorder of Glycosylation, Type Ia
Congenital Disorder of Glycosylation, Type Iij Congenital Disorder of Glycosylation, Type Iih
Congenital Disorder of Glycosylation, Type if Congenital Disorder of Glycosylation, Type Iip
Congenital Disorder of Glycosylation, Type Iig Congenital Disorder of Glycosylation, Type Ie
Congenital Disorder of Glycosylation, Type Ig Congenital Disorder of Glycosylation, Type Iim
Congenital Disorder of Glycosylation, Type Iy Congenital Disorder of Glycosylation Type I/iix

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

id Related Disease Score Top Affiliating Genes
1 fetal macrosomia 9.8
2 secondary adrenal insufficiency 9.8
3 muscle glycogenosis 9.8

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type It

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Head And Neck- Mouth:
cleft palate
bifid uvula

Muscle Soft Tissue:
fatigue
muscle weakness
exercise intolerance
glycogen accumulation seen on biopsy
rhabdomyolysis (in some patients) endocrine : hypogonadotropic hypogonadism (rare)
more
Cardiovascular- Vascular:
cerebral thrombosis (rare)

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

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- Heart:
dilated cardiomyopathy (in some patients)
tachycardia

Respiratory:
dyspnea (rare)


Clinical features from OMIM:

614921

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

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

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


fatigue, muscle weakness

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type It

Search Clinical Trials , 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:

id Genetic test Affiliating Genes
1 Congenital Disorder of Glycosylation Type 1t 29
2 Glycogen Storage Disease Type Xiv 24 PGM1

Anatomical Context for Congenital Disorder of Glycosylation, Type It

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

39
Liver

Publications for Congenital Disorder of Glycosylation, Type It

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)
id 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
id 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

GO Terms for Congenital Disorder of Glycosylation, Type It

Sources for Congenital Disorder of Glycosylation, Type It

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
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37 KEGG
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40 MedGen
42 MeSH
43 MESH via Orphanet
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59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
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70 UMLS via Orphanet
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