MCID: CNG206
MIFTS: 43

Congenital Disorder of Glycosylation, Type Ie malady

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

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
Dpm2-Cdg 10 45 22 51
Congenital Disorder of Glycosylation Type Iu 45 22 51
Cdg-Iu 45 22 51
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 is 49 11
Congenital Disorder of Glycosylation, Type Iu 45 65
Congenital Disorder of Glycosylation 1u 22 24
Cdg Syndrome Type Iu 45 51
 
Cdg1u 45 51
Congenital Disorder of Glycosylation Type is 67
Congenital Disorder of Glycosylation Type I 10
Congenital Disorder of Glycosylation 1s 67
Congenital Disorder of Glycosylation 1e 67
Cdg is 67
Cdg-is 67
Cdgis 67
Cdg1e 67
Cdg1s 67


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology10 DOID:0050570
Orphanet51 329178
ICD10 via Orphanet28 E77.8
MeSH36 D018981

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 i/iix and congenital disorder of glycosylation, type iu, 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, 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 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 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 Ie via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
idRelated DiseaseScoreTop Affiliating Genes
1congenital disorder of glycosylation type i/iix10.6
2congenital disorder of glycosylation, type iu10.4
3congenital disorder of glycosylation, type iii10.3
4congenital disorder of glycosylation, type ia10.3
5st anthony's fire10.3ALG13, DPM1
6hepatic encephalopathy10.2CP, TF
7anemia, hypochromic microcytic10.2CP, TF
8chronic gonorrhea of cervix10.1HP, TF
9early-onset, autosomal dominant alzheimer disease10.1CP, TF
10muscular dystrophy-dystroglycanopathy10.1
11muscular dystrophy10.1
12congenital disorder of glycosylation, type in10.1PMM2, TF
13chronic purulent otitis media10.1CP, HP
14congenital disorder of glycosylation, type ii10.1SERPINA1, TF
15capillary leak syndrome10.1HP, HPR
16ank1-related spherocytosis10.1HP, HPR
17carrion's disease10.1HP, HPR
18toxic labyrinthitis10.1CP, SERPINA1
19congenital disorder of glycosylation, type iid10.1
20congenital disorder of glycosylation, type ih10.1
21congenital disorder of glycosylation, type ig10.1
22cleft lip10.1A2M, SERPINA1
23irritant dermatitis10.1CP, TF
24dysgammaglobulinemia10.1HP, TF
25uterine cervix leukoplakia10.1HP, HPR
26graphite pneumoconiosis10.0CP, SERPINA1
27breast angiosarcoma10.0A2M, SERPINA1
28pneumoconiosis due to talc10.0SERPINA1, TF
29mononeuritis multiplex10.0CP, SERPINA1
30obstructive lung disease10.0CP, TF
31recombinant 8 syndrome10.0HP, PMM2, TF
32vagus nerve neoplasm10.0A2M, SERPINA1
33metaphyseal dysplasia10.0CP, TF
34diffuse cutaneous mastocytosis10.0HP, HPR
35pseudohermaphroditism10.0CP, HP, TF
36fructose intolerance9.9SERPINA1, TF
37mature b-cell neoplasm9.9A2M, CP, HP
38tuberculosis9.9HP, HPR, TF
39infarct of liver9.9CP, HP, HPR
40cockayne syndrome9.9CP, HP, HPR
41galactosemia9.9CP, SERPINA1, TF
42mite infestation9.9CP, TF
43central sleep apnea9.8HP, HPR, SERPINA1
44testis sarcoma9.7HP, HPR, SERPINA1, TF
45atransferrinemia9.5CP, HEPH, HP, HPR, TF
46gout susceptibility 49.4CP, HEPH, HP, SERPINA1, TF
47duane-radial ray syndrome8.5A2M, ALG13, CP, DPM1, DPM2, HEPH

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 62)
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 hydrocephalus rare (5%) HP:0000238
6 flexion contracture rare (5%) HP:0001371
7 abnormal facial shape rare (5%) HP:0001999
8 abnormal pyramidal signs rare (5%) HP:0007256
9 microcephaly HP:0000252
10 optic atrophy HP:0000648
11 horizontal nystagmus HP:0000666
12 seizures HP:0001250
13 muscular hypotonia HP:0001252
14 global developmental delay HP:0001263
15 x-linked recessive inheritance HP:0001419
16 abnormality of extrapyramidal motor function HP:0002071
17 hepatomegaly HP:0002240
18 recurrent infections HP:0002719
19 infantile onset HP:0003593
20 type i transferrin isoform profile HP:0003642
21 autosomal recessive inheritance HP:0000007
22 hypertelorism HP:0000316
23 smooth philtrum HP:0000319
24 micrognathia HP:0000347
25 strabismus HP:0000486
26 retinopathy HP:0000488
27 downslanted palpebral fissures HP:0000494
28 nystagmus HP:0000639
29 telangiectasia HP:0001009
30 hemangioma HP:0001028
31 abnormality of the macula HP:0001103
32 ataxia HP:0001251
33 tremor HP:0001337
34 failure to thrive HP:0001508
35 patent ductus arteriosus HP:0001643
36 splenomegaly HP:0001744
37 reduced antithrombin iii activity HP:0001976
38 respiratory distress HP:0002098
39 nail dysplasia HP:0002164
40 eeg abnormality HP:0002353
41 lower limb hyperreflexia HP:0002395
42 high, narrow palate HP:0002705
43 elevated hepatic transaminases HP:0002910
44 elevated serum creatine phosphokinase HP:0003236
45 muscular dystrophy HP:0003560
46 prolonged partial thromboplastin time HP:0003645
47 progressive HP:0003676
48 variable expressivity HP:0003828
49 short palm HP:0004279
50 reduced protein s activity HP:0004855
51 depressed nasal bridge HP:0005280
52 flat occiput HP:0005469
53 postnatal microcephaly HP:0005484
54 reduced protein c activity HP:0005543
55 knee flexion contracture HP:0006380
56 ankle contracture HP:0006466
57 pontocerebellar atrophy HP:0006879
58 upper limb undergrowth HP:0009824
59 severe global developmental delay HP:0011344
60 camptodactyly HP:0012385
61 cortical visual impairment HP:0100704
62 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
2 Congenital Disorder of Glycosylation Type 1u24

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
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:

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 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1NM_003859.1(DPM1): c.742T> C (p.Ser248Pro)single nucleotide variantPathogenicrs587777114GRCh37Chr 20, 49551710: 49551710
2DPM1NM_003859.1(DPM1): c.373-5T> Asingle nucleotide variantPathogenicrs587777115GRCh37Chr 20, 49562304: 49562304
3NM_003859.1(DPM1): c.455G> T (p.Gly152Val)single nucleotide variantPathogenicrs587777116GRCh37Chr 20, 49558607: 49558607
4NG_008923.1: g.(8339_14860)_(22659_27261)deldeletionPathogenicGRCh38Chr 20, 50936263: 50955185
5DPM2NM_003863.3(DPM2): c.68A> G (p.Tyr23Cys)single nucleotide variantPathogenicrs397514503GRCh37Chr 9, 130699738: 130699738
6DPM2NM_003863.3(DPM2): c.4_93del90single nucleotide variantPathogenicrs797044467GRCh38Chr 9, 127937524: 127937524
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_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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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:003318510.6DPM1, DPM2
2platelet alpha granule lumenGO:003109310.0A2M, SERPINA1
3blood microparticleGO:00725628.7A2M, CP, HP, HPR, TF
4extracellular spaceGO:00056157.8A2M, CP, HP, SERPINA1, TF
5extracellular regionGO:00055767.5A2M, CP, HP, HPR, SERPINA1, TF
6extracellular exosomeGO:00700627.2A2M, CP, HP, HPR, PMM2, SERPINA1

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1GPI anchor biosynthetic processGO:000650610.5DPM1, DPM2
2protein O-linked mannosylationGO:003526910.4DPM1, DPM2
3C-terminal protein lipidationGO:000650110.4DPM1, DPM2
4regulation of protein stabilityGO:003164710.3DPM2, TF
5dolichol metabolic processGO:001934810.1DPM1, DPM2
6iron ion transportGO:00068269.9HEPH, TF
7acute-phase responseGO:00069539.8HP, SERPINA1
8copper ion transportGO:00068259.7CP, HEPH
9dolichol-linked oligosaccharide biosynthetic processGO:00064889.5ALG13, DPM1, DPM2, PMM2
10platelet degranulationGO:00025769.5A2M, SERPINA1, TF
11cellular iron ion homeostasisGO:00068799.3CP, HEPH, TF
12platelet activationGO:00301689.0A2M, SERPINA1, TF
13protein N-linked glycosylation via asparagineGO:00182798.9ALG13, DPM1, DPM2, PMM2, SERPINA1
14post-translational protein modificationGO:00436878.8ALG13, DPM1, DPM2, PMM2, SERPINA1
15cellular protein metabolic processGO:00442678.8ALG13, DPM1, DPM2, PMM2, SERPINA1

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:000458210.3DPM1, DPM2
2hemoglobin bindingGO:00304929.8HP, HPR
3ferrous iron bindingGO:00081989.5HEPH, TF
4ferroxidase activityGO:00043229.2CP, HEPH
5copper ion bindingGO:00055079.2CP, HEPH

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