MCID: CNG379
MIFTS: 22

Congenital Disorder of Glycosylation, Type It malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Blood diseases, Liver diseases, Muscle diseases categories

Summaries for Congenital Disorder of Glycosylation, Type It

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OMIM:45 Congenital disorder of glycosylation type It (CDG1T) is an autosomal recessive disorder characterized by a wide range... (614921) more...

MalaCards based summary: Congenital Disorder of Glycosylation, Type It, also known as glycogen storage disease xiv, is related to glycogen storage disease due to phosphoglucomutase deficiency and pgm-cdg, and has symptoms including cleft palate, pierre-robin sequence and micrognathia. An important gene associated with Congenital Disorder of Glycosylation, Type It is PGM1 (phosphoglucomutase 1).

Aliases & Classifications for Congenital Disorder of Glycosylation, Type It

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Congenital Disorder of Glycosylation, Type It, Aliases & Descriptions:

Name: Congenital Disorder of Glycosylation, Type It 45 10
Glycogen Storage Disease Xiv 10 20 60
 
Glycogen Storage Disease Type 14 22


Classifications:



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OMIM45 614921

Related Diseases for Congenital Disorder of Glycosylation, Type It

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Diseases in the Congenital Disorder of Glycosylation, Type Ie 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 Iib Congenital Disorder of Glycosylation, Type Ix
Congenital Disorder of Glycosylation, Type in Congenital Disorder of Glycosylation, Type Id
Congenital Disorder of Glycosylation, Type Iq Congenital Disorder of Glycosylation, Type Iik
Congenital Disorder of Glycosylation, Type Iif Congenital Disorder of Glycosylation, Type Iii
Congenital Disorder of Glycosylation, Type Iid Congenital Disorder of Glycosylation, Type Ii
Congenital Disorder of Glycosylation, Type Iu Congenital Disorder of Glycosylation, Type Im
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 Iig Congenital Disorder of Glycosylation, Type Ig
Congenital Disorder of Glycosylation, Type Iim Congenital Disorder of Glycosylation, Type Iy
Congenital Disorder of Glycosylation, Type Iv 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:

idRelated DiseaseScoreTop Affiliating Genes
1glycogen storage disease due to phosphoglucomutase deficiency10.4
2pgm-cdg10.3

Symptoms for Congenital Disorder of Glycosylation, Type It

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Symptoms by clinical synopsis from OMIM:

614921

Clinical features from OMIM:

614921

HPO human phenotypes related to Congenital Disorder of Glycosylation, Type It:

(show all 22)
id Description Frequency HPO Source Accession
1 cleft palate rare (5%) HP:0000175
2 pierre-robin sequence rare (5%) HP:0000201
3 micrognathia rare (5%) HP:0000347
4 reduced antithrombin iii activity rare (5%) HP:0001976
5 dyspnea rare (5%) HP:0002094
6 rhabdomyolysis rare (5%) HP:0003201
7 elevated serum creatine phosphokinase rare (5%) HP:0003236
8 cerebral venous thrombosis rare (5%) HP:0005305
9 fatigue rare (5%) HP:0012378
10 autosomal recessive inheritance HP:0000007
11 bifid uvula HP:0000193
12 delayed puberty HP:0000823
13 muscle weakness HP:0001324
14 hepatic steatosis HP:0001397
15 dilated cardiomyopathy HP:0001644
16 tachycardia HP:0001649
17 hypoglycemia HP:0001943
18 elevated hepatic transaminases HP:0002910
19 exercise intolerance HP:0003546
20 type i transferrin isoform profile HP:0003642
21 short stature HP:0004322
22 hepatitis HP:0012115

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type It

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Drug clinical trials:

Search ClinicalTrials for Congenital Disorder of Glycosylation, Type It

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

Genetic Tests for Congenital Disorder of Glycosylation, Type It

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

id Genetic test Affiliating Genes
1 Glycogen Storage Disease Type Xiv20 PGM1
2 Glycogen Storage Disease Xiv22

Anatomical Context for Congenital Disorder of Glycosylation, Type It

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Animal Models for Congenital Disorder of Glycosylation, Type It or affiliated genes

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Publications for Congenital Disorder of Glycosylation, Type It

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Variations for Congenital Disorder of Glycosylation, Type It

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

62 (show all 13)
id Symbol AA change Variation ID SNP ID
1PGM1p.Thr115AlaVAR_062280
2PGM1p.Gly121ArgVAR_069219
3PGM1p.Thr19AlaVAR_071635
4PGM1p.Asn38TyrVAR_071636
5PGM1p.Gln41ArgVAR_071637
6PGM1p.Asp62HisVAR_071638
7PGM1p.Asp263GlyVAR_071639
8PGM1p.Asp263TyrVAR_071640
9PGM1p.Gly291ArgVAR_071641
10PGM1p.Gly330ArgVAR_071642
11PGM1p.Glu377LysVAR_071643
12PGM1p.Glu388LysVAR_071644
13PGM1p.Leu516ProVAR_071645

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1PGM1NM_002633.2(PGM1): c.1547T> C (p.Leu516Pro)single nucleotide variantPathogenicGRCh37Chr 1, 64120085: 64120085
2PGM1NM_002633.2(PGM1): c.112A> T (p.Asn38Tyr)single nucleotide variantPathogenicGRCh37Chr 1, 64059271: 64059271
3PGM1NM_002633.2(PGM1): c.184G> C (p.Asp62His)single nucleotide variantPathogenicGRCh37Chr 1, 64059343: 64059343
4PGM1NM_002633.2(PGM1): c.787G> T (p.Asp263Tyr)single nucleotide variantPathogenicGRCh37Chr 1, 64100604: 64100604
5PGM1NM_002633.2(PGM1): c.661delC (p.Arg221Valfs)deletionPathogenicGRCh37Chr 1, 64097432: 64097432
6PGM1NM_002633.2(PGM1): c.343A> G (p.Thr115Ala)single nucleotide variantPathogenicrs121918371GRCh37Chr 1, 64095192: 64095192
7PGM1NM_002633.2(PGM1): c.1145-1G> Csingle nucleotide variantPathogenicGRCh37Chr 1, 64114187: 64114187
8PGM1NM_002633.2(PGM1): c.361G> C (p.Gly121Arg)single nucleotide variantPathogenicrs398122912GRCh37Chr 1, 64095210: 64095210
9PGM1NM_002633.2(PGM1): c.1507C> T (p.Arg503Ter)single nucleotide variantPathogenicrs397515423GRCh37Chr 1, 64120045: 64120045

Expression for genes affiliated with Congenital Disorder of Glycosylation, Type It

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

Pathways for genes affiliated with Congenital Disorder of Glycosylation, Type It

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Compounds for genes affiliated with Congenital Disorder of Glycosylation, Type It

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GO Terms for genes affiliated with Congenital Disorder of Glycosylation, Type It

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Products for genes affiliated with Congenital Disorder of Glycosylation, Type It

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Congenital Disorder of Glycosylation, Type It

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet