MCID: CNG379
MIFTS: 28

Congenital Disorder of Glycosylation, Type It malady

Categories: Genetic diseases, Neuronal diseases, Liver diseases, Metabolic diseases, Rare diseases, Gastrointestinal 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

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

Name: Congenital Disorder of Glycosylation, Type It 50 12
Glycogen Storage Disease Xiv 68 12 66
Congenital Disorder of Glycosylation 1t 68 25
Phosphoglucomutase 1 Deficiency 23 68
Gsd Xiv 23 68
Congenital Disorder of Glycosylation Type It 68
Glycogen Storage Disease Type Xiv 23
 
Phosphoglucomutase-1 12
Pgm1 Deficiency 68
Cdg It 68
Cdg-It 68
Gsd14 68
Cdg1t 68
Cdgit 68

Characteristics:

HPO:

62
congenital disorder of glycosylation, type it:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 614921

Summaries for Congenital Disorder of Glycosylation, Type It

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OMIM:50 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 fetal macrosomia and secondary adrenal insufficiency, 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).

UniProtKB/Swiss-Prot:68 Congenital disorder of glycosylation 1T: 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.

Related Diseases for Congenital Disorder of Glycosylation, Type It

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Diseases in the Congenital Disorder of Glycosylation 2o 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 Iz 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 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 Congenital Disorder of Glycosylation 2n
Congenital Disorder of Glycosylation 2p

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

idRelated DiseaseScoreTop Affiliating Genes
1fetal macrosomia10.0
2secondary adrenal insufficiency10.0
3muscle glycogenosis9.9

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 21)
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 bifid uvula HP:0000193
11 delayed puberty HP:0000823
12 muscle weakness HP:0001324
13 hepatic steatosis HP:0001397
14 dilated cardiomyopathy HP:0001644
15 tachycardia HP:0001649
16 hypoglycemia HP:0001943
17 elevated hepatic transaminases HP:0002910
18 exercise intolerance HP:0003546
19 type i transferrin isoform profile HP:0003642
20 short stature HP:0004322
21 hepatitis HP:0012115

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


fatigue, muscle weakness

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type It

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Interventional clinical trials:

Search ClinicalTrials, 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 Congenital Disorder of Glycosylation Type 1t25
2 Glycogen Storage Disease Type Xiv23 PGM1

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:

68 (show all 13)
id Symbol AA change Variation ID SNP ID
1PGM1p.Thr115AlaVAR_062280rs121918371
2PGM1p.Gly121ArgVAR_069219rs398122912
3PGM1p.Thr19AlaVAR_071635
4PGM1p.Asn38TyrVAR_071636rs587777402
5PGM1p.Gln41ArgVAR_071637
6PGM1p.Asp62HisVAR_071638rs587777403
7PGM1p.Asp263GlyVAR_071639
8PGM1p.Asp263TyrVAR_071640rs587777404
9PGM1p.Gly291ArgVAR_071641rs772768778
10PGM1p.Gly330ArgVAR_071642rs777164338
11PGM1p.Glu377LysVAR_071643
12PGM1p.Glu388LysVAR_071644
13PGM1p.Leu516ProVAR_071645rs587777401

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1PGM1NM_002633.2(PGM1): c.1547T> C (p.Leu516Pro)single nucleotide variantPathogenicrs587777401GRCh37Chr 1, 64120085: 64120085
2PGM1NM_002633.2(PGM1): c.112A> T (p.Asn38Tyr)single nucleotide variantPathogenicrs587777402GRCh37Chr 1, 64059271: 64059271
3PGM1NM_002633.2(PGM1): c.184G> C (p.Asp62His)single nucleotide variantPathogenicrs587777403GRCh37Chr 1, 64059343: 64059343
4PGM1NM_002633.2(PGM1): c.787G> T (p.Asp263Tyr)single nucleotide variantPathogenicrs587777404GRCh37Chr 1, 64100604: 64100604
5PGM1NM_002633.2(PGM1): c.661delC (p.Arg221Valfs)deletionPathogenicrs587777405GRCh37Chr 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 variantPathogenicrs587776801GRCh37Chr 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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GO Terms for genes affiliated with Congenital Disorder of Glycosylation, Type It

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Sources for Congenital Disorder of Glycosylation, Type It

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet