MCID: CNG206
MIFTS: 49

Congenital Disorder of Glycosylation, Type Ie malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Liver diseases, Metabolic diseases, Muscle diseases, Gastrointestinal diseases, Ear diseases, Fetal diseases, Bone diseases, Nephrological diseases, Cardiovascular diseases, Skin diseases, Blood 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 50 12
Congenital Disorder of Glycosylation, Type is 50 12 66
Dpm2-Cdg 11 46 23
Carbohydrate Deficient Glycoprotein Syndrome Type Ie 52 25
Congenital Disorder of Glycosylation, Type Iu 46 66
Congenital Disorder of Glycosylation Type is 52 68
Congenital Disorder of Glycosylation Type I 11 13
Congenital Disorder of Glycosylation 1u 23 25
Cdg-is 52 68
Cdg1s 52 68
Cdg1e 52 68
Congenital Muscular Dystrophy with Intellectual Disability and Severe Epilepsy 46
Carbohydrate Deficient Glycoprotein Syndrome Type Iu 46
Cmd with Intellectual Disability and Severe Epilepsy 46
Congenital Disorder of Glycosylation Type 1e 52
Congenital Disorder of Glycosylation Type Iu 46
Congenital Disorder of Glycosylation Type Ie 52
Congenital Disorder of Glycosylation Type 1s 52
 
Congenital Disorder of Glycosylation Iu 23
Congenital Disorder of Glycosylation 1y 25
Congenital Disorder of Glycosylation 1s 68
Congenital Disorder of Glycosylation 1e 68
Dol-P-Mannosyltransferase Deficiency 52
Cdg Syndrome Type Ie 52
Cdg Syndrome Type Iu 46
Cdg Syndrome Type is 52
Alg13-Cdg 52
Dpm1-Cdg 52
Cdg-Ie 52
Cdg-Iu 46
Cdg Iu 23
Cdg is 68
Cdg1u 46
Cdgis 68
Cdgiu 23

Characteristics:

Orphanet epidemiological data:

52
congenital disorder of glycosylation type is:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: infantile
carbohydrate deficient glycoprotein syndrome type ie:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

62
congenital disorder of glycosylation, type is:
Inheritance: x-linked recessive inheritance
Onset and clinical course: infantile onset
congenital disorder of glycosylation, type ie:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset, progressive, variable expressivity


Classifications:



External Ids:

Disease Ontology11 DOID:0050570
ICD10 via Orphanet29 E77.8
MeSH37 D018981

Summaries for Congenital Disorder of Glycosylation, Type Ie

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UniProtKB/Swiss-Prot:68 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 congenital disorder of glycosylation, type is, 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 Subunit 1, Catalytic), and among its related pathways are Mineral absorption and N-Glycan biosynthesis. Affiliated tissues include liver and eye.

Disease Ontology:11 A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor.

OMIM:50 Congenital disorders of glycosylation (CDGs) are metabolic deficiencies in glycoprotein biosynthesis that usually cause... (608799) more...

Description from OMIM:50 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 2n
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 all 50)
idRelated DiseaseScoreTop Affiliating Genes
1congenital disorder of glycosylation, type iu12.4
2congenital disorder of glycosylation type i/iix12.3
3congenital disorder of glycosylation, type iy11.6
4congenital disorder of glycosylation, type iii11.2
5cog5-congenital disorder of glycosylation11.2
6periventricular heterotopia with microcephaly10.5PMM2, TF
7congenital disorder of glycosylation, type in10.4PMM2, TF
8postinflammatory pulmonary fibrosis10.4CP, TF
9macrocytic anemia10.4CP, TF
10cognitive impairment with or without cerebellar ataxia10.4CP, TF
11chronic lymphocytic leukemia10.3HP, TF
12scn8a encephalopathy10.3CP, TF
13hyperthyroxinemia10.3HP, TF
14spinal cord lipoma10.3CP, HP
15hydranencephaly10.3CP, HP
16polycystic kidney disease10.3CP, TF
17transvestism10.2CP, HP
18balantidiasis10.2HP, TF
19myasthenic syndrome, congenital, 14, with tubular aggregates10.2SERPINA1, TF
20acquired gastric outlet stenosis10.2CP, SERPINA1
21diphtheria10.2CP, TF
22acute cervicitis10.2A2M, SERPINA1
23slate pneumoconiosis10.1SERPINA1, TF
24posterolateral myocardial infarction10.1A2M, SERPINA1
25paranasal sinus cancer, adult10.1CP, SERPINA1
26pulmonary disease, chronic obstructive10.1A2M, SERPINA1
27breast adenomyoepithelioma10.1CP, HP
28pompholyx10.1HP, SERPINA1
29congenital disorder of glycosylation, type ia10.1
30chronic endophthalmitis10.0A2M, CP
31alcoholic liver cirrhosis10.0PMM2, TF
32xfe progeroid syndrome10.0HP, PMM2, TF
33caplan's syndrome10.0A2M, SERPINA1
34spinal muscular atrophy, lower extremity-predominant, 2, ad10.0SERPINA1, TF
35chronic closed-angle glaucoma10.0A2M, SERPINA1
36urinary bladder posterior wall cancer10.0CP, HP, TF
37tendinosis9.9CP, HEPH, TF
38rectal disease9.9CP, SERPINA1, TF
39eczematous dermatitis of eyelid9.9SERPINA1, TF
40posterior foramen magnum meningioma9.9SERPINA1, TF
41congenital disorder of glycosylation, type iid9.8
42congenital disorder of glycosylation, type ih9.8
43congenital disorder of glycosylation, type ig9.8
44gmppa-cdg9.8
45central nervous system adult germ cell tumor9.7HP, SERPINA1, TF
46lymphedema9.7HP, SERPINA1, TF
47vestibular nystagmus9.7HP, TF
48atransferrinemia9.5CP, HEPH, HP, TF
49nasu-hakola disease8.9CP, HEPH, HP, SERPINA1, TF
50ivic syndrome6.4A2M, 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

Symptoms:

 52
  • microcephaly
  • abnormality of the eye
  • abnormality of vision
  • seizures
  • muscular hypotonia
  • severe global developmental delay

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 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 abnormality of extrapyramidal motor function HP:0002071
16 hepatomegaly HP:0002240
17 recurrent infections HP:0002719
18 type i transferrin isoform profile HP:0003642
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

UMLS symptoms related to Congenital Disorder of Glycosylation, Type Ie:


ataxia, diarrhea, hepatomegaly, seizures, vomiting, weakness, cerebellar ataxia, tremor, respiratory distress, myopathic facies

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 Carbohydrate-Deficient Glycoprotein Syndrome Type I25
2 Congenital Disorder of Glycosylation Type 1e25
3 Congenital Disorder of Glycosylation Type 1u25
4 Congenital Disorder of Glycosylation Type 1y25
5 Dpm2-Cdg (cdg-Iu)23 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:

34
Liver, Eye

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:

68
id Symbol AA change Variation ID SNP ID
1ALG13p.Lys94GluVAR_069218
2DPM1p.Arg92GlyVAR_012341rs121908583
3DPM1p.Ser248ProVAR_019841rs587777114
4DPM1p.Gly152ValVAR_070592rs587777116

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_001257235.2(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:00331859.9DPM1, DPM2
2platelet alpha granule lumenGO:00310939.6A2M, SERPINA1
3blood microparticleGO:00725628.7A2M, CP, HP, TF

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:00193489.9DPM1, DPM2
2protein N-linked glycosylation via asparagineGO:00182799.9DPM1, DPM2
3copper ion transportGO:00068259.8CP, HEPH
4GPI anchor biosynthetic processGO:00065069.8DPM1, DPM2
5acute-phase responseGO:00069539.7HP, SERPINA1
6protein O-linked mannosylationGO:00352699.6DPM1, DPM2
7cellular iron ion homeostasisGO:00068799.5CP, HEPH, TF
8platelet degranulationGO:00025769.3A2M, SERPINA1, TF

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:00045829.9DPM1, DPM2
2ferroxidase activityGO:00043229.7CP, HEPH
3copper ion bindingGO:00055079.6CP, HEPH
4ferrous iron bindingGO:00081989.6HEPH, TF

Sources for Congenital Disorder of Glycosylation, Type Ie

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet