EIEE36
MCID: CNG206
MIFTS: 47

Congenital Disorder of Glycosylation, Type Ie (EIEE36) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Muscle diseases, Liver 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 52 12 68
Congenital Disorder of Glycosylation, Type is 52 12 68
Dpm2-Cdg 11 48 24
Carbohydrate Deficient Glycoprotein Syndrome Type Ie 54 27
Congenital Disorder of Glycosylation, Type Iu 48 68
Congenital Disorder of Glycosylation Type is 70 27
Congenital Disorder of Glycosylation Type I 11 13
Congenital Disorder of Glycosylation 1u 24 27
Cdg1e 54 70
Congenital Muscular Dystrophy with Intellectual Disability and Severe Epilepsy 48
Cmd with Intellectual Disability and Severe Epilepsy 48
Carbohydrate Deficient Glycoprotein Syndrome Type Iu 48
Epileptic Encephalopathy, Early Infantile, 36 70
Congenital Disorder of Glycosylation Type 1u 48
Congenital Disorder of Glycosylation Type Iu 48
Congenital Disorder of Glycosylation Type 1e 54
Congenital Disorder of Glycosylation Type Ie 54
 
Congenital Disorder of Glycosylation 1s 70
Congenital Disorder of Glycosylation 1e 70
Congenital Disorder of Glycosylation Iu 24
Dol-P-Mannosyltransferase Deficiency 54
Cdg Syndrome Type Ie 54
Cdg Syndrome Type Iu 48
Dpm1-Cdg 54
Cdg-Iu 48
Cdg-Ie 54
Cdg-is 70
Eiee36 70
Cdg is 70
Cdg Iu 24
Cdgiu 24
Cdg1s 70
Cdgis 70
Cdg1u 48

Characteristics:

Orphanet epidemiological data:

54
carbohydrate deficient glycoprotein syndrome type ie:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

64
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
Orphanet54 ORPHA79322
ICD10 via Orphanet31 E77.8

Summaries for Congenital Disorder of Glycosylation, Type Ie

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UniProtKB/Swiss-Prot:70 Congenital disorder of glycosylation 1E: A form of congenital disorder of glycosylation, 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. Epileptic encephalopathy, early infantile, 36: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. Some EIEE36 patients may present with an abnormal isoelectric focusing of serum transferrin, consistent with a diagnostic classification of congenital disorder of glycosylation type I. 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 epileptic encephalopathy, early infantile, 36, and has symptoms including ataxia, diarrhea and seizures. 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 Ferroptosis and Mineral absorption. Affiliated tissues include eye.

OMIM:52 Congenital disorders of glycosylation (CDGs) are metabolic deficiencies in glycoprotein biosynthesis that usually cause... (608799) more...

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

Description from OMIM:52 300884

Related Diseases for Congenital Disorder of Glycosylation, Type Ie

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Diseases in the Congenital Disorder of Glycosylation 1aa 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

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

(show all 45)
idRelated DiseaseScoreTop Affiliating Genes
1congenital disorder of glycosylation, type iu12.3
2epileptic encephalopathy, early infantile, 3612.3
3congenital disorder of glycosylation type i/iix12.1
4congenital disorder of glycosylation, type iii11.0
5cog5-congenital disorder of glycosylation11.0
6congenital disorder of glycosylation, type ia10.9
7congenital disorder of glycosylation, type iid10.6
8congenital disorder of glycosylation, type ih10.6
9congenital disorder of glycosylation, type ig10.6
10gmppa-cdg10.6
11muscular dystrophy limb girdle type 2a, erb type10.2PMM2, TF
12periventricular heterotopia with microcephaly10.2PMM2, TF
13epileptic encephalopathy, early infantile, 1310.2CP, TF
14post-thrombotic syndrome10.1CP, TF
15neonatal urinary tract infectious disease10.1CP, HP
16hemoglobin c disease10.1HP, TF
17episcleritis periodica fugax10.1CP, TF
18ectodermal dysplasia bartalos type10.1CP, TF
19hematocele of tunica vaginalis testis10.1CP, HP
20choriodal dystrophy, central areolar 210.1SERPINA1, TF
21de quervain disease10.1CP, SERPINA1
22bladder sarcoma10.1CP, TF
23chondrosarcoma, extraskeletal myxoid10.1SERPINA1, TF
24lymph node cancer10.1A2M, SERPINA1
25periosteal chondrosarcoma10.1A2M, SERPINA1
26growth retardation hydrocephaly lung hypoplasia10.1CP, SERPINA1
27spastic entropion10.1HP, TF
28esophageal leukoplakia10.1CP, TF
29bardet-biedl syndrome 810.1A2M, SERPINA1
30homocystinuria10.1HP, SERPINA1
31kaolin pneumoconiosis10.0SERPINA1, TF
32xfe progeroid syndrome10.0HP, PMM2, TF
33maturity-onset diabetes of the young, type 1410.0HP, PMM2, TF
34achilles bursitis10.0CP, SERPINA1, TF
35paragonimiasis10.0A2M, CP, HP
36focal epithelial hyperplasia9.9HP, SERPINA1, TF
37lymphoid leukemia9.9CP, SERPINA1, TF
38anthracosis9.9A2M, SERPINA1
39female breast upper-inner quadrant cancer9.9CP, HP
40pyelitis9.8HP, SLC35A2
41facial paresis, hereditary congenital, 19.8CP, HEPH, HP, TF
42fanconi anemia, complementation group c9.8HP, PMM2, SERPINA1, TF
43neuronal ceroid-lipofuscinoses9.8CP, HEPH, HP, TF
44nasu-hakola disease9.6CP, HEPH, HP, SERPINA1, TF
45ivic syndrome8.6A2M, 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 & Phenotypes for Congenital Disorder of Glycosylation, Type Ie

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Symptoms by clinical synopsis from OMIM:

300884

Clinical features from OMIM:

608799,300884

Human phenotypes related to Congenital Disorder of Glycosylation, Type Ie:

 54 64 (show all 55)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly64 54 Very frequent (99-80%) HP:0000252
2 abnormality of the eye54 Very frequent (99-80%)
3 abnormality of vision64 54 Very frequent (99-80%) HP:0000504
4 seizures64 54 Very frequent (99-80%) HP:0001250
5 muscular hypotonia64 54 Very frequent (99-80%) HP:0001252
6 severe global developmental delay64 54 Very frequent (99-80%) HP:0011344
7 hydrocephalus64 HP:0000238
8 optic atrophy64 HP:0000648
9 horizontal nystagmus64 HP:0000666
10 global developmental delay64 HP:0001263
11 flexion contracture64 HP:0001371
12 abnormal facial shape64 HP:0001999
13 abnormality of extrapyramidal motor function64 HP:0002071
14 hepatomegaly64 HP:0002240
15 recurrent infections64 HP:0002719
16 type i transferrin isoform profile64 HP:0003642
17 abnormal pyramidal signs64 HP:0007256
18 hypertelorism64 HP:0000316
19 smooth philtrum64 HP:0000319
20 micrognathia64 HP:0000347
21 strabismus64 HP:0000486
22 retinopathy64 HP:0000488
23 downslanted palpebral fissures64 HP:0000494
24 nystagmus64 HP:0000639
25 telangiectasia64 HP:0001009
26 hemangioma64 HP:0001028
27 abnormality of the macula64 HP:0001103
28 ataxia64 HP:0001251
29 tremor64 HP:0001337
30 failure to thrive64 HP:0001508
31 patent ductus arteriosus64 HP:0001643
32 splenomegaly64 HP:0001744
33 reduced antithrombin iii activity64 HP:0001976
34 respiratory distress64 HP:0002098
35 nail dysplasia64 HP:0002164
36 eeg abnormality64 HP:0002353
37 lower limb hyperreflexia64 HP:0002395
38 high, narrow palate64 HP:0002705
39 elevated hepatic transaminases64 HP:0002910
40 elevated serum creatine phosphokinase64 HP:0003236
41 muscular dystrophy64 HP:0003560
42 prolonged partial thromboplastin time64 HP:0003645
43 short palm64 HP:0004279
44 reduced protein s activity64 HP:0004855
45 depressed nasal bridge64 HP:0005280
46 flat occiput64 HP:0005469
47 postnatal microcephaly64 HP:0005484
48 reduced protein c activity64 HP:0005543
49 knee flexion contracture64 HP:0006380
50 ankle contracture64 HP:0006466
51 pontocerebellar atrophy64 HP:0006879
52 upper limb undergrowth64 HP:0009824
53 camptodactyly64 HP:0012385
54 cortical visual impairment64 HP:0100704
55 small hand64 HP:0200055

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


ataxia, diarrhea, seizures, vomiting, weakness, cerebellar ataxia, tremor, respiratory distress

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 I27
2 Congenital Disorder of Glycosylation Type 1e27
3 Congenital Disorder of Glycosylation Type 1u27
4 Congenital Disorder of Glycosylation Type 1y27
5 Dpm2-Cdg (cdg-Iu)24 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:

36
Eye

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:

70
id Symbol AA change Variation ID SNP ID
1ALG13p.Lys94GluVAR_069218rs867599353
2ALG13p.Asn107SerVAR_069412rs398122394
3DPM1p.Arg92GlyVAR_012341rs121908583
4DPM1p.Ser248ProVAR_019841rs587777114
5DPM1p.Gly152ValVAR_070592rs587777116

Clinvar genetic disease variations for Congenital Disorder of Glycosylation, Type Ie:

5 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1DPM1NM_ 003859.2(DPM1): c.742T> C (p.Ser248Pro)SNVPathogenicrs587777114GRCh37Chr 20, 49551710: 49551710
2DPM1NM_ 003859.2(DPM1): c.373-5T> ASNVPathogenicrs587777115GRCh37Chr 20, 49562304: 49562304
3DPM1NM_ 003859.2(DPM1): c.455G> T (p.Gly152Val)SNVPathogenicrs587777116GRCh37Chr 20, 49558607: 49558607
4DPM1NG_ 008923.1: g.(8339_ 14860)_ (22659_ 27261)deldeletionPathogenicGRCh38Chr 20, 50936263: 50955185
5PMM2NM_ 000303.2(PMM2): c.470T> C (p.Phe157Ser)SNVPathogenic/ Likely pathogenicrs190521996GRCh38Chr 16, 8811660: 8811660
6ALG13NM_ 001099922.2(ALG13): c.339A> G (p.Ala113=)SNVPathogenicrs397514587GRCh37Chr X, 110928287: 110928287
7DPM1NM_ 003859.2(DPM1): c.274C> G (p.Arg92Gly)SNVPathogenicrs121908583GRCh37Chr 20, 49565187: 49565187
8DPM1DPM1, 13-BP DELdeletionPathogenic
9DPM1DPM1, 1-BP DEL, 628CdeletionPathogenic
10ALG13NM_ 001257235.2(ALG13): c.8A> G (p.Asn3Ser)SNVPathogenicrs398122394GRCh37Chr X, 110928268: 110928268
11PMM2NM_ 000303.2(PMM2): c.422G> A (p.Arg141His)SNVPathogenicrs28936415GRCh37Chr 16, 8905010: 8905010
12PMM2NM_ 000303.2(PMM2): c.357C> A (p.Phe119Leu)SNVPathogenicrs80338701GRCh37Chr 16, 8904945: 8904945
13PMM2NM_ 000303.2(PMM2): c.710C> G (p.Thr237Arg)SNVPathogenicrs80338708GRCh37Chr 16, 8941651: 8941651

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 pathwaysScoreTop Affiliating Genes
19.7CP, TF
29.6HEPH, TF
3
Show member pathways
9.5ALG13, DPM1, DPM2
4
Show member pathways
9.2ALG13, DPM1, DPM2, PMM2
5
Show member pathways
9.2CP, HEPH, TF
6
Show member pathways
8.6ALG13, DPM1, DPM2, PMM2, SERPINA1

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
2endoplasmic reticulum lumenGO:00057889.8CP, SERPINA1, TF
3blood microparticleGO:00725629.5A2M, CP, HP, TF
4endoplasmic reticulumGO:00057838.8ALG13, DPM1, DPM2, SERPINA1, SLC35A2
5extracellular spaceGO:00056158.1A2M, CP, HP, SERPINA1, TF

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1dolichol metabolic processGO:001934810.5DPM1, DPM2
2GPI anchor biosynthetic processGO:000650610.5DPM1, DPM2
3iron ion homeostasisGO:005507210.2HEPH, TF
4iron ion transportGO:000682610.2HEPH, TF
5copper ion transportGO:000682510.2CP, HEPH
6protein N-linked glycosylation via asparagineGO:001827910.2DPM1, DPM2
7acute-phase responseGO:000695310.0HP, SERPINA1
8protein glycosylationGO:000648610.0DPM1, DPM2, PMM2
9protein O-linked mannosylationGO:00352699.8DPM1, DPM2
10cellular iron ion homeostasisGO:00068799.8CP, HEPH, TF
11cellular protein metabolic processGO:00442679.7CP, SERPINA1, TF
12platelet degranulationGO:00025769.6A2M, 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:000458210.2DPM1, DPM2
2copper ion bindingGO:00055079.9CP, HEPH
3ferrous iron bindingGO:00081989.7HEPH, TF
4ferroxidase activityGO:00043229.5CP, HEPH

Sources for Congenital Disorder of Glycosylation, Type Ie

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet