MCID: CNG013
MIFTS: 60

Congenital Disorder of Glycosylation Type I malady

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Summaries for Congenital Disorder of Glycosylation Type I

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Disease Ontology:8 A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor.

MalaCards based summary: Congenital Disorder of Glycosylation Type I, also known as congenital disorder of glycosylation type 1e, is related to congenital disorder of glycosylation and congenital disorder of glycosylation type 1a, and has symptoms including microcephaly, anomalies of eyes and vision and hypotonia. An important gene associated with Congenital Disorder of Glycosylation Type I is ALG13 (ALG13, UDP-N-acetylglucosaminyltransferase subunit), and among its related pathways are Post-translational modification- synthesis of GPI-anchored proteins and Insulin receptor recycling. The compounds zinc protoporphyrin and protoporphyrin ix have been mentioned in the context of this disorder. Affiliated tissues include eye and liver, and related mouse phenotypes are embryogenesis and cardiovascular system.

Descriptions from OMIM:46 603147, 613661, 608540, 608799, 607906 601110, 609180, 608093, 612379, 607143, 612015, 212065, 612937, 608104, 610768, 608776, 602579, 300884 more

Aliases & Classifications for Congenital Disorder of Glycosylation Type I

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
See all sources

Congenital Disorder of Glycosylation Type I, Aliases & Descriptions:

Name: Congenital Disorder of Glycosylation Type I 8
Congenital Disorder of Glycosylation Type 1e 42 22 48 62
Congenital Disorder of Glycosylation, Type Ie 9 46 62
Carbohydrate-Deficient Glycoprotein Syndrome Type 1e 42 22
Congenital Disorder of Glycosylation, Type is 9 46
Dpm2-Cdg 8 20
Cdg1e 42 48
Cdg1s 48 62
Carbohydrate Deficient Glycoprotein Syndrome Type Ie 48
Congenital Disorder of Glycosylation Type is 48
 
Congenital Disorder of Glycosylation Type 1s 48
Congenital Disorder of Glycosylation Type Ie 48
Dol-P-Mannosyltransferase Deficiency 48
Cdg Syndrome Type is 48
Cdg Syndrome Type Ie 48
Alg13-Cdg 48
Dpm1-Cdg 48
Cdg-is 48
Cdg-Ie 48
Cdg 1e 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
cdg1s:
Inheritance: X-linked recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy
congenital disorder of glycosylation type 1e:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

Disease Ontology8 DOID:0050570
ICD10 via Orphanet26 E77.8

Related Diseases for Congenital Disorder of Glycosylation Type I

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Diseases in the Congenital Disorder of Glycosylation Type I family:

Congenital Disorder of Glycosylation Type Ii Congenital Disorder of Glycosylation
Congenital Disorder of Glycosylation Type 1a Congenital Disorder of Glycosylation Type 1b
Congenital Disorder of Glycosylation Type 1c Congenital Disorder of Glycosylation Type 1d
Congenital Disorder of Glycosylation Type 1f Congenital Disorder of Glycosylation Type 1g
Congenital Disorder of Glycosylation Type 1h Congenital Disorder of Glycosylation Type 1i
Congenital Disorder of Glycosylation Type 1j Congenital Disorder of Glycosylation Type 1k
Congenital Disorder of Glycosylation Type 1l Congenital Disorder of Glycosylation Type 2a
Congenital Disorder of Glycosylation Type 2b Congenital Disorder of Glycosylation Type 2c
Congenital Disorder of Glycosylation Type 2d Congenital Disorder of Glycosylation Type 2g
Congenital Disorder of Glycosylation Type Iii Congenital Disorder of Glycosylation, Type Ir
Congenital Disorder of Glycosylation, Type It Congenital Disorder of Glycosylation, Type Io
Congenital Disorder of Glycosylation, Type Iv Congenital Disorder of Glycosylation, Type Ix
Congenital Disorder of Glycosylation, Type Iq Congenital Disorder of Glycosylation, Type Iif
Congenital Disorder of Glycosylation, Type Iu Congenital Disorder of Glycosylation, Type Im
Congenital Disorder of Glycosylation, Type Il Congenital Disorder of Glycosylation, Type Ij
Congenital Disorder of Glycosylation, Type Iw Congenital Disorder of Glycosylation, Type Ip
Congenital Disorder of Glycosylation, Type Ik Congenital Disorder of Glycosylation, Type Iih

Diseases related to Congenital Disorder of Glycosylation Type I via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 25)
idRelated DiseaseScoreTop Affiliating Genes
1congenital disorder of glycosylation31.0PMM2, DPM1
2congenital disorder of glycosylation type 1a30.3TF, PMM2, HP
3congenital disorder of glycosylation type i/iix10.5
4aceruloplasminemia10.4HEPH
5atransferrinemia10.3TF, HEPH
6congenital hemolytic anemia10.3TF, HP
7iron deficiency anemia10.2TF, HEPH
8hemoglobinopathy10.2TF, HP
9iron metabolism disease10.2TF, HEPH
10sickle cell disease10.2TF, HP
11hemolytic anemia10.2HP, TF
12nephrotic syndrome10.2HP, TF
13fatty liver disease10.2TF, HP
14galactosemia10.1TF, HP
15liver cirrhosis10.1TF, HP
16hemochromatosis10.1TF, HP, HEPH
17hepatitis c10.1HP, TF
18deficiency anemia10.1TF, HP, HEPH
19muscular dystrophy-dystroglycanopathy10.1
20muscular dystrophy10.1
21congenital disorder of glycosylation, type iu10.1
22congenital disorder of glycosylation type 1g10.0
23congenital disorder of glycosylation type 1h10.0
24congenital disorder of glycosylation type 2d10.0
25diabetic nephropathy10.0TF, HP

Graphical network of the top 20 diseases related to Congenital Disorder of Glycosylation Type I:



Diseases related to congenital disorder of glycosylation type i

Symptoms for Congenital Disorder of Glycosylation Type I

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Symptoms by clinical synopsis from OMIM:

300884

Clinical features from OMIM:

603147, 613661, 608540, 608799, 607906, 601110, 609180, 608093, 612379, 607143 612015, 212065, 612937, 608104, 610768, 608776, 602579, 300884 more

Symptoms:

48
  • microcephaly
  • anomalies of eyes and vision
  • hypotonia
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability

HPO human phenotypes related to Congenital Disorder of Glycosylation Type I:

(show all 67)
id Description Frequency HPO Source Accession
1 microcephaly hallmark (90%) HP:0000252
2 abnormality of the eye hallmark (90%) HP:0000478
3 seizures hallmark (90%) HP:0001250
4 muscular hypotonia hallmark (90%) HP:0001252
5 cognitive impairment hallmark (90%) HP:0100543
6 hydrocephalus rare (5%) HP:0000238
7 flexion contracture rare (5%) HP:0001371
8 abnormal facial shape rare (5%) HP:0001999
9 microcephaly HP:0000252
10 optic atrophy HP:0000648
11 horizontal nystagmus HP:0000666
12 seizures HP:0001250
13 global developmental delay HP:0001263
14 x-linked recessive inheritance HP:0001419
15 abnormality of extrapyramidal motor function HP:0002071
16 hepatomegaly HP:0002240
17 recurrent infections HP:0002719
18 infantile onset HP:0003593
19 type i transferrin isoform profile HP:0003642
20 autosomal recessive inheritance HP:0000007
21 hypertelorism HP:0000316
22 smooth philtrum HP:0000319
23 micrognathia HP:0000347
24 strabismus HP:0000486
25 retinopathy HP:0000488
26 downslanted palpebral fissures HP:0000494
27 nystagmus HP:0000639
28 optic atrophy HP:0000648
29 telangiectasia HP:0001009
30 hemangioma HP:0001028
31 seizures HP:0001250
32 ataxia HP:0001251
33 muscular hypotonia HP:0001252
34 tremor HP:0001337
35 failure to thrive HP:0001508
36 patent ductus arteriosus HP:0001643
37 splenomegaly HP:0001744
38 reduced antithrombin iii activity HP:0001976
39 respiratory distress HP:0002098
40 nail dysplasia HP:0002164
41 hepatomegaly HP:0002240
42 eeg abnormality HP:0002353
43 lower limb hyperreflexia HP:0002395
44 high, narrow palate HP:0002705
45 elevated hepatic transaminases HP:0002910
46 elevated hepatic transaminases HP:0002910
47 elevated serum creatine phosphokinase HP:0003236
48 muscular dystrophy HP:0003560
49 infantile onset HP:0003593
50 type i transferrin isoform profile HP:0003642
51 prolonged partial thromboplastin time HP:0003645
52 progressive disorder HP:0003676
53 variable expressivity HP:0003828
54 short palm HP:0004279
55 reduced protein s activity HP:0004855
56 depressed nasal bridge HP:0005280
57 flat occiput HP:0005469
58 postnatal microcephaly HP:0005484
59 reduced protein c activity HP:0005543
60 knee flexion contracture HP:0006380
61 ankle contracture HP:0006466
62 pontocerebellar atrophy HP:0006879
63 upper limb undergrowth HP:0009824
64 severe global developmental delay HP:0011344
65 camptodactyly HP:0012385
66 cortical visual impairment HP:0100704
67 small hand HP:0200055

Drugs & Therapeutics for Congenital Disorder of Glycosylation Type I

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Drug clinical trials:

Search ClinicalTrials for Congenital Disorder of Glycosylation Type I

Search NIH Clinical Center for Congenital Disorder of Glycosylation Type I

Genetic Tests for Congenital Disorder of Glycosylation Type I

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Genetic tests related to Congenital Disorder of Glycosylation Type I:

id Genetic test Affiliating Genes
1 Dpm2-Cdg (cdg-Iu)20 DPM2
2 Carbohydrate-Deficient Glycoprotein Syndrome Type I22
3 Congenital Disorder of Glycosylation Type 1e22
4 Congenital Disorder of Glycosylation Type 1s22

Anatomical Context for Congenital Disorder of Glycosylation Type I

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

32
Eye, Liver

Animal Models for Congenital Disorder of Glycosylation Type I or affiliated genes

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MGI Mouse Phenotypes related to Congenital Disorder of Glycosylation Type I:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.7TBX6, ALG13, HEPH, PMM2
2MP:00053857.8TBX6, ALG13, HP, HEPH, PMM2

Publications for Congenital Disorder of Glycosylation Type I

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Articles related to Congenital Disorder of Glycosylation Type I:

idTitleAuthorsYear
1
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. (22492991)
2012
2
Modeling a congenital disorder of glycosylation type I in C. elegans: a genome-wide RNAi screen for N-glycosylation-dependent loci. (19729382)
2009
3
Elevation of plasma aspartylglucosaminidase is a useful marker for the congenital disorders of glycosylation type I (CDG I). (16435229)
2005
4
The underglycosylation of plasma alpha 1-antitrypsin in congenital disorders of glycosylation type I is not random. (12626422)
2003
5
Glycoforms of six serum glycoproteins in a patient with congenital disorder of glycosylation type I. (11916311)
2002
6
Congenital disorders of glycosylation type I leads to altered processing of N-linked glycans, as well as underglycosylation. (11583570)
2001

Variations for Congenital Disorder of Glycosylation Type I

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

64
id Symbol AA change Variation ID SNP ID
1ALG13p.Lys94GluVAR_069218
2DPM1p.Arg92GlyVAR_012341
3DPM1p.Ser248ProVAR_019841
4DPM1p.Gly152ValVAR_070592

Clinvar genetic disease variations for Congenital Disorder of Glycosylation Type I:

6 (show all 26)
id Gene Name Type Significance SNP ID Assembly Location
1NM_003859.1(DPM1): c.742T> C (p.Ser248Pro)single nucleotide variantPathogenicGRCh37Chr 20, 49551710: 49551710
2DPM1NM_003859.1(DPM1): c.373-5T> Asingle nucleotide variantPathogenicGRCh37Chr 20, 49562304: 49562304
3NM_003859.1(DPM1): c.455G> T (p.Gly152Val)single nucleotide variantPathogenicGRCh37Chr 20, 49558607: 49558607
4DPM1NC_000020.11deletionPathogenicGRCh38Chr 20, 50940865: 50948664
5PMM2NM_000303.2(PMM2): c.415G> A (p.Glu139Lys)single nucleotide variantPathogenicrs80338703GRCh37Chr 16, 8905003: 8905003
6PMM2NM_000303.2(PMM2): c.653A> T (p.His218Leu)single nucleotide variantPathogenicrs80338705GRCh37Chr 16, 8941594: 8941594
7PMM2NM_000303.2(PMM2): c.710C> T (p.Thr237Met)single nucleotide variantPathogenicrs80338708GRCh37Chr 16, 8941651: 8941651
8PMM2NM_000303.2(PMM2): c.317A> T (p.Tyr106Phe)single nucleotide variantPathogenicrs387906824GRCh37Chr 16, 8900234: 8900234
9ALG13NM_001099922.2(ALG13): c.339A> G (p.Ala113=)single nucleotide variantPathogenicrs397514587GRCh37Chr X, 110928287: 110928287
10DPM1NM_003859.1(DPM1): c.274C> G (p.Arg92Gly)single nucleotide variantPathogenicrs121908583GRCh37Chr 20, 49565187: 49565187
11DPM1DPM1, 13-BP DELdeletionPathogenic
12DPM1DPM1, 1-BP DEL, 628CdeletionPathogenic
13ALG13NM_001099922.2(ALG13): c.320A> G (p.Asn107Ser)single nucleotide variantPathogenicrs398122394GRCh37Chr X, 110928268: 110928268
14PMM2NM_000303.2(PMM2): c.647A> T (p.Asn216Ile)single nucleotide variantPathogenicrs78290141GRCh37Chr 16, 8941588: 8941588
15PMM2NM_000303.2(PMM2): c.385G> A (p.Val129Met)single nucleotide variantPathogenicrs104894525GRCh37Chr 16, 8904973: 8904973
16PMM2NM_000303.2(PMM2): c.484C> T (p.Arg162Trp)single nucleotide variantPathogenicrs104894526GRCh37Chr 16, 8905531: 8905531
17PMM2NM_000303.2(PMM2): c.193G> T (p.Asp65Tyr)single nucleotide variantPathogenicrs104894527GRCh37Chr 16, 8898638: 8898638
18PMM2NM_000303.2(PMM2): c.563A> G (p.Asp188Gly)single nucleotide variantPathogenicrs80338704GRCh37Chr 16, 8906887: 8906887
19PMM2NM_000303.2(PMM2): c.349G> C (p.Gly117Arg)single nucleotide variantPathogenicrs104894530GRCh37Chr 16, 8904937: 8904937
20PMM2NM_000303.2(PMM2): c.669C> G (p.Asp223Glu)single nucleotide variantPathogenicrs104894531GRCh37Chr 16, 8941610: 8941610
21PMM2NM_000303.2(PMM2): c.722G> C (p.Cys241Ser)single nucleotide variantPathogenicrs80338709GRCh37Chr 16, 8941663: 8941663
22PMM2NM_000303.2(PMM2): c.395T> C (p.Ile132Thr)single nucleotide variantPathogenicrs80338702GRCh37Chr 16, 8904983: 8904983
23PMM2NM_000303.2(PMM2): c.26G> A (p.Cys9Tyr)single nucleotide variantPathogenicrs104894532GRCh37Chr 16, 8891765: 8891765
24PMM2NM_000303.2(PMM2): c.95T> G (p.Leu32Arg)single nucleotide variantPathogenicrs104894533GRCh37Chr 16, 8895684: 8895684
25PMM2NM_000303.2(PMM2): c.677C> G (p.Thr226Ser)single nucleotide variantPathogenicrs80338706GRCh37Chr 16, 8941618: 8941618
26PMM2NM_000303.2(PMM2): c.131T> C (p.Val44Ala)single nucleotide variantPathogenicrs104894534GRCh37Chr 16, 8895720: 8895720

Expression for genes affiliated with Congenital Disorder of Glycosylation Type I

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Expression patterns in normal tissues for genes affiliated with Congenital Disorder of Glycosylation Type I

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

Pathways for genes affiliated with Congenital Disorder of Glycosylation Type I

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Pathways related to Congenital Disorder of Glycosylation Type I according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6DPM2, DPM1
2
Show member pathways
9.1HEPH, TF
39.1TF, HEPH
4
Show member pathways
8.8ALG13, DPM2, DPM1, PMM2
5
Show member pathways
8.8ALG13, DPM2, DPM1, PMM2

Compounds for genes affiliated with Congenital Disorder of Glycosylation Type I

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Sources:
44Novoseek, 24HMDB, 11DrugBank, 50PharmGKB, 2BitterDB, 28IUPHAR
See all sources

Compounds related to Congenital Disorder of Glycosylation Type I according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
1zinc protoporphyrin449.3HP, TF
2protoporphyrin ix44 24 1111.3HP, TF
3tocopherol449.2TF, HP
4starch449.2HP, TF
58-isoprostane449.2HP, TF
6deferoxamine44 1110.1TF, HP
7ribavirin44 50 1111.0HP, TF
8polyethylene glycol449.0HP, TF
9vitamin b12448.9TF, HP
10copper44 249.8HP, HEPH, TF
11chloroquine44 2 50 28 1112.7HP, TF
12iron44 249.6HP, HEPH, TF

GO Terms for genes affiliated with Congenital Disorder of Glycosylation Type I

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Cellular components related to Congenital Disorder of Glycosylation Type I according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1dolichol-phosphate-mannose synthase complexGO:0331859.6DPM2, DPM1
2blood microparticleGO:0725629.0HP, TF
3endoplasmic reticulum membraneGO:0057898.9DPM1, DPM2, ALG13
4perinuclear region of cytoplasmGO:0484718.5DPM2, HEPH, TF

Biological processes related to Congenital Disorder of Glycosylation Type I according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1dolichol metabolic processGO:0193489.7DPM1, DPM2
2protein O-linked mannosylationGO:0352699.6DPM2, DPM1
3GPI anchor biosynthetic processGO:0065069.5DPM2, DPM1
4C-terminal protein lipidationGO:0065019.3DPM2, DPM1
5cellular iron ion homeostasisGO:0068799.1HEPH, TF
6dolichol-linked oligosaccharide biosynthetic processGO:0064889.0ALG13, DPM2, DPM1, PMM2
7protein N-linked glycosylation via asparagineGO:0182799.0PMM2, DPM1, DPM2, ALG13
8post-translational protein modificationGO:0436878.9ALG13, DPM2, DPM1, PMM2
9cellular protein metabolic processGO:0442678.8PMM2, DPM1, DPM2, ALG13

Molecular functions related to Congenital Disorder of Glycosylation Type I according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1dolichyl-phosphate beta-D-mannosyltransferase activityGO:0045829.6DPM2, DPM1

Products for genes affiliated with Congenital Disorder of Glycosylation Type I

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  • Antibodies
  • Proteins
  • Lysates

Sources for Congenital Disorder of Glycosylation Type I

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet