CDG1T
MCID: CNG379
MIFTS: 28

Congenital Disorder of Glycosylation, Type It (CDG1T) 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

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

Name: Congenital Disorder of Glycosylation, Type It 54 13
Glycogen Storage Disease Xiv 66 13 69
Congenital Disorder of Glycosylation 1t 66 29
Phosphoglucomutase 1 Deficiency 24 66
Gsd Xiv 24 66
Congenital Disorder of Glycosylation Type It 66
Glycogen Storage Disease Type Xiv 24
Phosphoglucomutase-1 13
Pgm1 Deficiency 66
Cdg It 66
Cdg-It 66
Cdgit 66
Gsd14 66
Cdg1t 66

Characteristics:

HPO:

32
congenital disorder of glycosylation, type it:
Inheritance autosomal recessive inheritance
Onset and clinical course phenotypic variability


Classifications:



External Ids:

OMIM 54 614921

Summaries for Congenital Disorder of Glycosylation, Type It

UniProtKB/Swiss-Prot : 66 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 fatigue, dyspnea and muscle weakness. An important gene associated with Congenital Disorder of Glycosylation, Type It is PGM1 (Phosphoglucomutase 1).

OMIM : 54 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

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:

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 by clinical synopsis from OMIM:

614921

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 fatigue 32 HP:0012378
2 dyspnea 32 HP:0002094
3 muscle weakness 32 HP:0001324
4 short stature 32 HP:0004322
5 delayed puberty 32 HP:0000823
6 elevated serum creatine phosphokinase 32 HP:0003236
7 hypoglycemia 32 HP:0001943
8 hepatitis 32 HP:0012115
9 cleft palate 32 HP:0000175
10 micrognathia 32 HP:0000347
11 hepatic steatosis 32 HP:0001397
12 elevated hepatic transaminases 32 HP:0002910
13 bifid uvula 32 HP:0000193
14 dilated cardiomyopathy 32 HP:0001644
15 exercise intolerance 32 HP:0003546
16 tachycardia 32 HP:0001649
17 pierre-robin sequence 32 HP:0000201
18 cerebral venous thrombosis 32 HP:0005305
19 rhabdomyolysis 32 HP:0003201
20 reduced antithrombin iii activity 32 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

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:

66 (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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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