MCID: CNG206
MIFTS: 49

Congenital Disorder of Glycosylation, Type Ie malady

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

Aliases & Classifications for Congenital Disorder of Glycosylation, Type Ie

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

Name: Congenital Disorder of Glycosylation, Type Ie 49 11 65
Dpm2-Cdg 10 45 22 51
Congenital Disorder of Glycosylation, Type is 49 11 65
Congenital Muscular Dystrophy with Intellectual Disability and Severe Epilepsy 45 51
Carbohydrate Deficient Glycoprotein Syndrome Type Iu 45 51
Cmd with Intellectual Disability and Severe Epilepsy 45 51
Congenital Disorder of Glycosylation, Type Iu 45 65
Congenital Disorder of Glycosylation Type Iu 45 51
Congenital Disorder of Glycosylation Type I 10 12
Congenital Disorder of Glycosylation 1u 22 24
Cdg Syndrome Type Iu 45 51
Cdg-Iu 45 51
Cdg1u 45 51
 
Congenital Disorder of Glycosylation Type is 67
Congenital Disorder of Glycosylation Iu 22
Congenital Disorder of Glycosylation 1y 24
Congenital Disorder of Glycosylation 1s 67
Congenital Disorder of Glycosylation 1e 67
Cdg-is 67
Cdg is 67
Cdg Iu 22
Cdgis 67
Cdg1e 67
Cdg1s 67
Cdgiu 22

Characteristics:

Orphanet epidemiological data:

51
dpm2-cdg:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

61
congenital disorder of glycosylation, type is:
Onset and clinical course: infantile onset
Inheritance: x-linked recessive inheritance
congenital disorder of glycosylation, type ie:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset, progressive, variable expressivity


Classifications:



External Ids:

Disease Ontology10 DOID:0050570
Orphanet51 329178
ICD10 via Orphanet28 E77.8
MeSH36 D018981
UMLS65 C3554385, C1837396, C3550904

Summaries for Congenital Disorder of Glycosylation, Type Ie

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UniProtKB/Swiss-Prot:67 Congenital disorder of glycosylation 1E: 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. Some CDG1E patients have features consistent with a dystroglycanopathy and congenital muscular dystrophy, including O-mannosylation defect, camptodactyly, elevated creatine kinase, motor delay and dystrophic changes on muscel biopsy. Congenital disorder of glycosylation 1S: 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 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 microcephaly, seizures and muscular hypotonia. 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 N-Glycan biosynthesis and amb2 Integrin signaling. Affiliated tissues include liver.

Disease Ontology:10 A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor.

OMIM:49 Congenital disorders of glycosylation (CDGs) are metabolic deficiencies in glycoprotein biosynthesis that usually cause... (608799) more...

Description from OMIM:49 300884

Related Diseases for Congenital Disorder of Glycosylation, Type Ie

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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 2p

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

(show top 50)    (show all 65)
idRelated DiseaseScoreTop Affiliating Genes
1congenital disorder of glycosylation, type iu12.8
2congenital disorder of glycosylation type i/iix12.7
3congenital disorder of glycosylation, type iy12.2
4ssr4-cdg11.6
5cog5-congenital disorder of glycosylation11.5
6congenital disorder of glycosylation, type ia10.5
7peritonitis10.4
8lichen planus10.3
9lichen planus pemphigoides10.3
10myocardial infarction10.2
11hodgkin lymphoma10.2
12cystic fibrosis10.2
13acute myocardial infarction10.2
14lymphoma10.2
15heart disease10.2
16congenital heart disease10.2
17sternal cleft10.2
18cognitive impairment with or without cerebellar ataxia10.2CP, TF
19early-onset, autosomal dominant alzheimer disease10.2CP, TF
20pulmonary alveolar proteinosis10.2CP, TF
21myelophthisic anemia10.2CP, TF
22hepatitis c virus10.2
23hepatitis10.2
24persistent hyperplastic primary vitreous10.2
25hyperandrogenism10.2
26hepatitis c10.2
27status asthmaticus10.2
28tonsillar fossa cancer10.1CP, TF
29bladder leiomyoma10.1HP, HPR
30myasthenic syndrome, congenital, 14, with tubular aggregates10.1SERPINA1, TF
31ank1-related spherocytosis10.1HP, HPR
32graphite pneumoconiosis10.1CP, SERPINA1
33infertility due to extratesticular cause10.1CP, SERPINA1
34allergic urticaria10.1SERPINA1, TF
35vestibular nystagmus10.1HP, HPR
36acute gonococcal cervicitis10.1A2M, SERPINA1
37skin amelanotic melanoma10.1HP, HPR
38pneumoconiosis due to talc10.1SERPINA1, TF
39congenital disorder of glycosylation, type iid10.1
40congenital disorder of glycosylation, type ih10.1
41congenital disorder of glycosylation, type ig10.1
42gmppa-cdg10.1
43inferior myocardial infarction10.1A2M, SERPINA1
44xanthogranulomatous pyelonephritis10.1CP, TF
45malignant adult ependymoma10.1HP, TF
46xeroderma pigmentosum, group f10.0HP, PMM2, TF
47congenital disorder of glycosylation, type in10.0HP, PMM2, TF
48anthracosilicosis10.0A2M, SERPINA1
49bladder neck cancer10.0CP, HP, TF
50spinal muscular atrophy, lower extremity-predominant, 2, ad10.0SERPINA1, TF

Graphical network of the top 20 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 57)
id Description Frequency HPO Source Accession
1 microcephaly hallmark (90%) HP:0000252
2 seizures hallmark (90%) HP:0001250
3 muscular hypotonia hallmark (90%) HP:0001252
4 cognitive impairment hallmark (90%) HP:0100543
5 abnormal pyramidal signs rare (5%) HP:0007256
6 abnormal facial shape rare (5%) HP:0001999
7 flexion contracture rare (5%) HP:0001371
8 hydrocephalus rare (5%) HP:0000238
9 type i transferrin isoform profile HP:0003642
10 recurrent infections HP:0002719
11 hepatomegaly HP:0002240
12 abnormality of extrapyramidal motor function HP:0002071
13 global developmental delay HP:0001263
14 muscular hypotonia HP:0001252
15 seizures HP:0001250
16 horizontal nystagmus HP:0000666
17 optic atrophy HP:0000648
18 microcephaly HP:0000252
19 hypertelorism HP:0000316
20 smooth philtrum HP:0000319
21 micrognathia HP:0000347
22 strabismus HP:0000486
23 retinopathy HP:0000488
24 downslanted palpebral fissures HP:0000494
25 nystagmus HP:0000639
26 telangiectasia HP:0001009
27 hemangioma HP:0001028
28 abnormality of the macula HP:0001103
29 ataxia HP:0001251
30 tremor HP:0001337
31 failure to thrive HP:0001508
32 patent ductus arteriosus HP:0001643
33 splenomegaly HP:0001744
34 reduced antithrombin iii activity HP:0001976
35 respiratory distress HP:0002098
36 nail dysplasia HP:0002164
37 eeg abnormality HP:0002353
38 lower limb hyperreflexia HP:0002395
39 high, narrow palate HP:0002705
40 elevated hepatic transaminases HP:0002910
41 elevated serum creatine phosphokinase HP:0003236
42 muscular dystrophy HP:0003560
43 prolonged partial thromboplastin time HP:0003645
44 short palm HP:0004279
45 reduced protein s activity HP:0004855
46 depressed nasal bridge HP:0005280
47 flat occiput HP:0005469
48 postnatal microcephaly HP:0005484
49 reduced protein c activity HP:0005543
50 knee flexion contracture HP:0006380
51 ankle contracture HP:0006466
52 pontocerebellar atrophy HP:0006879
53 upper limb undergrowth HP:0009824
54 severe global developmental delay HP:0011344
55 camptodactyly HP:0012385
56 cortical visual impairment HP:0100704
57 small hand HP:0200055

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type Ie

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Interventional clinical trials:

Search ClinicalTrials, 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)22 DPM2

Anatomical Context for Congenital Disorder of Glycosylation, Type Ie

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

33
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
Role of the single cysteine residue, Cys 3, of human and bovine cystatin B (stefin B) in the inhibition of cysteine proteinases. (11514663)
2001

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:

67
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:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NM_003859.2(DPM1): c.742T> C (p.Ser248Pro)single nucleotide variantPathogenicrs587777114GRCh37Chr 20, 49551710: 49551710
2DPM1NM_003859.2(DPM1): c.373-5T> Asingle nucleotide variantPathogenicrs587777115GRCh37Chr 20, 49562304: 49562304
3NM_003859.2(DPM1): c.455G> T (p.Gly152Val)single nucleotide variantPathogenicrs587777116GRCh37Chr 20, 49558607: 49558607
4NG_008923.1: g.(8339_14860)_(22659_27261)deldeletionPathogenicGRCh38Chr 20, 50936263: 50955185
5ALG13NM_001099922.2(ALG13): c.339A> G (p.Ala113=)single nucleotide variantPathogenicrs397514587GRCh37Chr X, 110928287: 110928287
6DPM1NM_003859.2(DPM1): c.274C> G (p.Arg92Gly)single nucleotide variantPathogenicrs121908583GRCh37Chr 20, 49565187: 49565187
7DPM1DPM1, 13-BP DELdeletionPathogenic
8DPM1DPM1, 1-BP DEL, 628CdeletionPathogenic
9ALG13NM_001257235.1(ALG13): c.8A> G (p.Asn3Ser)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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GO Terms for genes affiliated with Congenital Disorder of Glycosylation, Type Ie

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1protein O-linked mannosylationGO:003526910.4DPM1, DPM2
2C-terminal protein lipidationGO:000650110.2DPM1, DPM2
3dolichol-linked oligosaccharide biosynthetic processGO:000648810.0ALG13, DPM2, PMM2
4acute-phase responseGO:00069539.8HP, SERPINA1
5cellular iron ion homeostasisGO:00068799.6HEPH, TF
6cellular protein metabolic processGO:00442679.2DPM1, DPM2, SERPINA1
7blood coagulationGO:00075969.2A2M, SERPINA1, TF
8post-translational protein modificationGO:00436878.5ALG13, DPM1, DPM2, PMM2, SERPINA1

Sources for Congenital Disorder of Glycosylation, Type Ie

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet