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 51 12
Glycogen Storage Disease Xiv 69 12 67
Congenital Disorder of Glycosylation 1t 69 26
Phosphoglucomutase 1 Deficiency 24 69
Gsd Xiv 24 69
Congenital Disorder of Glycosylation Type It 69
Glycogen Storage Disease Type Xiv 24
 
Phosphoglucomutase-1 12
Pgm1 Deficiency 69
Cdg It 69
Cdg-It 69
Gsd14 69
Cdg1t 69
Cdgit 69

Characteristics:

HPO:

63
congenital disorder of glycosylation, type it:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 614921

Summaries for Congenital Disorder of Glycosylation, Type It

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UniProtKB/Swiss-Prot:69 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 muscle glycogenosis and fetal macrosomia, 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).

OMIM:51 Congenital disorder of glycosylation type It (CDG1T) is an autosomal recessive disorder characterized by a wide range... (614921) more...

Related Diseases for Congenital Disorder of Glycosylation, Type It

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Diseases in the Congenital Disorder of Glycosylation 1aa 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

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

idRelated DiseaseScoreTop Affiliating Genes
1muscle glycogenosis9.8
2fetal macrosomia9.8
3secondary adrenal insufficiency9.8

Symptoms for Congenital Disorder of Glycosylation, Type It

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Symptoms by clinical synopsis from OMIM:

614921

Clinical features from OMIM:

614921

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

 63 (show all 21)
id Description HPO Frequency HPO Source Accession
1 cleft palate63 rare (5%) HP:0000175
2 pierre-robin sequence63 rare (5%) HP:0000201
3 micrognathia63 rare (5%) HP:0000347
4 reduced antithrombin iii activity63 rare (5%) HP:0001976
5 dyspnea63 rare (5%) HP:0002094
6 rhabdomyolysis63 rare (5%) HP:0003201
7 elevated serum creatine phosphokinase63 rare (5%) HP:0003236
8 cerebral venous thrombosis63 rare (5%) HP:0005305
9 fatigue63 rare (5%) HP:0012378
10 bifid uvula63 HP:0000193
11 delayed puberty63 HP:0000823
12 muscle weakness63 HP:0001324
13 hepatic steatosis63 HP:0001397
14 dilated cardiomyopathy63 HP:0001644
15 tachycardia63 HP:0001649
16 hypoglycemia63 HP:0001943
17 elevated hepatic transaminases63 HP:0002910
18 exercise intolerance63 HP:0003546
19 type i transferrin isoform profile63 HP:0003642
20 short stature63 HP:0004322
21 hepatitis63 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 1t26
2 Glycogen Storage Disease Type Xiv24 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:

69 (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)SNVPathogenicrs587777401GRCh37Chr 1, 64120085: 64120085
2PGM1NM_002633.2(PGM1): c.112A> T (p.Asn38Tyr)SNVPathogenicrs587777402GRCh37Chr 1, 64059271: 64059271
3PGM1NM_002633.2(PGM1): c.184G> C (p.Asp62His)SNVPathogenicrs587777403GRCh37Chr 1, 64059343: 64059343
4PGM1NM_002633.2(PGM1): c.787G> T (p.Asp263Tyr)SNVPathogenicrs587777404GRCh37Chr 1, 64100604: 64100604
5PGM1NM_002633.2(PGM1): c.661delC (p.Arg221Valfs)deletionPathogenicrs587777405GRCh37Chr 1, 64097432: 64097432
6PGM1NM_002633.2(PGM1): c.343A> G (p.Thr115Ala)SNVPathogenicrs121918371GRCh37Chr 1, 64095192: 64095192
7PGM1NM_002633.2(PGM1): c.1145-1G> CSNVPathogenicrs587776801GRCh37Chr 1, 64114187: 64114187
8PGM1NM_002633.2(PGM1): c.361G> C (p.Gly121Arg)SNVPathogenicrs398122912GRCh37Chr 1, 64095210: 64095210
9PGM1NM_002633.2(PGM1): c.1507C> T (p.Arg503Ter)SNVPathogenicrs397515423GRCh37Chr 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet