MCID: CNG206
MIFTS: 37

Congenital Disorder of Glycosylation, Type Ie malady

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

Summaries for Congenital Disorder of Glycosylation, Type Ie

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OMIM:45 Congenital disorders of glycosylation (CDGs) are metabolic deficiencies in glycoprotein biosynthesis that usually cause... (608799) more...

MalaCards based summary: Congenital Disorder of Glycosylation, Type Ie, also known as dpm2-cdg, is related to congenital disorder of glycosylation, type iu and congenital disorder of glycosylation type i/iix, and has symptoms including hydrocephalus, flexion contracture and abnormal facial shape. An important gene associated with Congenital Disorder of Glycosylation, Type Ie is DPM1 (dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit), and among its related pathways are Post-translational modification- synthesis of GPI-anchored proteins and Metabolism. Affiliated tissues include liver.

Disease Ontology:9 A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor.

Description from OMIM:45 300884

Aliases & Classifications for Congenital Disorder of Glycosylation, Type Ie

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Sources:
41NIH Rare Diseases, 60UMLS, 45OMIM, 10diseasecard, 9Disease Ontology, 22GTR, 20GeneTests, 47Orphanet, 26ICD10 via Orphanet
See all sources

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

Name: Congenital Disorder of Glycosylation, Type Ie 45 10
Dpm2-Cdg 9 41 20 47
Congenital Muscular Dystrophy with Intellectual Disability and Severe Epilepsy 41 47
Carbohydrate Deficient Glycoprotein Syndrome Type Iu 41 47
Cmd with Intellectual Disability and Severe Epilepsy 41 47
Congenital Disorder of Glycosylation, Type is 45 10
 
Congenital Disorder of Glycosylation, Type Iu 41 60
Congenital Disorder of Glycosylation Type Iu 41 47
Congenital Disorder of Glycosylation Type I 9 22
Cdg Syndrome Type Iu 41 47
Cdg-Iu 41 47
Cdg1u 41 47


Classifications:



Characteristics (Orphanet epidemiological data):

47
dpm2-cdg:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

Disease Ontology9 DOID:0050570
Orphanet47 329178
ICD10 via Orphanet26 E77.8

Related Diseases for Congenital Disorder of Glycosylation, Type Ie

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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 Ie via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1congenital disorder of glycosylation, type iu10.7
2congenital disorder of glycosylation type i/iix10.6
3congenital disorder of glycosylation, type iii10.3
4congenital disorder of glycosylation, type ia10.3
5muscular dystrophy-dystroglycanopathy10.1
6muscular dystrophy10.1

Graphical network of diseases related to Congenital Disorder of Glycosylation, Type Ie:



Diseases related to congenital disorder of glycosylation, type ie

Symptoms for Congenital Disorder of Glycosylation, Type Ie

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Symptoms by clinical synopsis from OMIM:

300884

Clinical features from OMIM:

608799,300884

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

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

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type Ie

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Drug clinical trials:

Search ClinicalTrials for Congenital Disorder of Glycosylation, Type Ie

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

Genetic Tests for Congenital Disorder of Glycosylation, Type Ie

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

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

Anatomical Context for Congenital Disorder of Glycosylation, Type Ie

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

31
Liver

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

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Publications for Congenital Disorder of Glycosylation, Type Ie

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Articles related to Congenital Disorder of Glycosylation, Type Ie:

idTitleAuthorsYear
1
Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie. (10642602)
2000

Variations for Congenital Disorder of Glycosylation, Type Ie

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

62
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 Ie:

6 (show all 11)
id Gene Variation 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
5DPM2NM_003863.3(DPM2): c.68A> G (p.Tyr23Cys)single nucleotide variantPathogenicrs397514503GRCh37Chr 9, 130699738: 130699738
6DPM2DPM2, IVS1AS, G-C, -1single nucleotide variantPathogenic
7ALG13NM_001099922.2(ALG13): c.339A> G (p.Ala113=)single nucleotide variantPathogenicrs397514587GRCh37Chr X, 110928287: 110928287
8DPM1NM_003859.1(DPM1): c.274C> G (p.Arg92Gly)single nucleotide variantPathogenicrs121908583GRCh37Chr 20, 49565187: 49565187
9DPM1DPM1, 13-BP DELdeletionPathogenic
10DPM1DPM1, 1-BP DEL, 628CdeletionPathogenic
11ALG13NM_001099922.2(ALG13): c.320A> G (p.Asn107Ser)single nucleotide variantPathogenicrs398122394GRCh37Chr X, 110928268: 110928268

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

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

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

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Pathways related to Congenital Disorder of Glycosylation, Type Ie according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3DPM2, DPM1
2
Show member pathways
8.5ALG13, DPM2, DPM1
3
Show member pathways
8.5ALG13, DPM2, DPM1

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

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

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Cellular components related to Congenital Disorder of Glycosylation, Type Ie according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1dolichol-phosphate-mannose synthase complexGO:00331859.0DPM2, DPM1
2endoplasmic reticulum membraneGO:00057898.5ALG13, DPM2, DPM1

Biological processes related to Congenital Disorder of Glycosylation, Type Ie according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1dolichol metabolic processGO:00193489.4DPM2, DPM1
2protein O-linked mannosylationGO:00352699.4DPM2, DPM1
3GPI anchor biosynthetic processGO:00065069.2DPM2, DPM1
4C-terminal protein lipidationGO:00065019.0DPM2, DPM1
5dolichol-linked oligosaccharide biosynthetic processGO:00064888.7ALG13, DPM2, DPM1
6protein N-linked glycosylation via asparagineGO:00182798.7DPM1, DPM2, ALG13
7post-translational protein modificationGO:00436878.5DPM1, DPM2, ALG13
8cellular protein metabolic processGO:00442678.5ALG13, DPM2, DPM1

Molecular functions related to Congenital Disorder of Glycosylation, Type Ie according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1dolichyl-phosphate beta-D-mannosyltransferase activityGO:00045829.3DPM2, DPM1

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

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

Sources for Congenital Disorder of Glycosylation, Type Ie

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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