MCID: CNG206
MIFTS: 46

Congenital Disorder of Glycosylation, Type Ie 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 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 eye.

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

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

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 48)
idRelated DiseaseScoreTop Affiliating Genes
1congenital disorder of glycosylation, type iu12.3
2epileptic encephalopathy, early infantile, 3612.3
3congenital disorder of glycosylation type i/iix12.2
4congenital disorder of glycosylation, type iii11.0
5cog5-congenital disorder of glycosylation11.0
6congenital disorder of glycosylation, type ia11.0
7congenital disorder of glycosylation, type iid10.6
8congenital disorder of glycosylation, type ih10.6
9congenital disorder of glycosylation, type ig10.6
10periventricular heterotopia with microcephaly10.4PMM2, TF
11congenital disorder of glycosylation, type in10.4PMM2, TF
12postinflammatory pulmonary fibrosis10.3CP, TF
13macrocytic anemia10.3CP, TF
14cognitive impairment with or without cerebellar ataxia10.3CP, TF
15chronic lymphocytic leukemia10.3HP, TF
16hyperthyroxinemia10.3HP, TF
17scn8a encephalopathy10.3CP, TF
18spinal cord lipoma10.2CP, HP
19hydranencephaly10.2CP, HP
20transvestism10.2CP, HP
21balantidiasis10.1HP, TF
22myasthenic syndrome, congenital, 14, with tubular aggregates10.1SERPINA1, TF
23diphtheria10.1CP, TF
24acquired gastric outlet stenosis10.1CP, SERPINA1
25acute cervicitis10.1A2M, SERPINA1
26slate pneumoconiosis10.1SERPINA1, TF
27posterolateral myocardial infarction10.1A2M, SERPINA1
28paranasal sinus cancer, adult10.1CP, SERPINA1
29breast adenomyoepithelioma10.1CP, HP
30pulmonary disease, chronic obstructive10.1A2M, SERPINA1
31pompholyx10.0HP, SERPINA1
32chronic endophthalmitis10.0A2M, CP
33alcoholic liver cirrhosis10.0PMM2, TF
34xfe progeroid syndrome10.0HP, PMM2, TF
35spinal muscular atrophy, lower extremity-predominant, 2, ad10.0SERPINA1, TF
36caplan's syndrome10.0A2M, SERPINA1
37chronic closed-angle glaucoma10.0A2M, SERPINA1
38urinary bladder posterior wall cancer9.9CP, HP, TF
39tendinosis9.9CP, HEPH, TF
40rectal disease9.9CP, SERPINA1, TF
41eczematous dermatitis of eyelid9.9SERPINA1, TF
42posterior foramen magnum meningioma9.9SERPINA1, TF
43central nervous system adult germ cell tumor9.7HP, SERPINA1, TF
44lymphedema9.7HP, SERPINA1, TF
45vestibular nystagmus9.7HP, TF
46atransferrinemia9.5CP, HEPH, HP, TF
47nasu-hakola disease9.0CP, HEPH, HP, SERPINA1, TF
48ivic syndrome6.8A2M, 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:

 64 54 (show all 56)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly64 54 hallmark (90%) Very frequent (99-80%) HP:0000252
2 seizures64 54 hallmark (90%) Very frequent (99-80%) HP:0001250
3 muscular hypotonia64 54 hallmark (90%) Very frequent (99-80%) HP:0001252
4 cognitive impairment64 hallmark (90%) HP:0100543
5 hydrocephalus64 rare (5%) HP:0000238
6 flexion contracture64 rare (5%) HP:0001371
7 abnormal facial shape64 rare (5%) HP:0001999
8 abnormal pyramidal signs64 rare (5%) HP:0007256
9 optic atrophy64 HP:0000648
10 horizontal nystagmus64 HP:0000666
11 global developmental delay64 HP:0001263
12 abnormality of extrapyramidal motor function64 HP:0002071
13 hepatomegaly64 HP:0002240
14 recurrent infections64 HP:0002719
15 type i transferrin isoform profile64 HP:0003642
16 hypertelorism64 HP:0000316
17 smooth philtrum64 HP:0000319
18 micrognathia64 HP:0000347
19 strabismus64 HP:0000486
20 retinopathy64 HP:0000488
21 downslanted palpebral fissures64 HP:0000494
22 nystagmus64 HP:0000639
23 telangiectasia64 HP:0001009
24 hemangioma64 HP:0001028
25 abnormality of the macula64 HP:0001103
26 ataxia64 HP:0001251
27 tremor64 HP:0001337
28 failure to thrive64 HP:0001508
29 patent ductus arteriosus64 HP:0001643
30 splenomegaly64 HP:0001744
31 reduced antithrombin iii activity64 HP:0001976
32 respiratory distress64 HP:0002098
33 nail dysplasia64 HP:0002164
34 eeg abnormality64 HP:0002353
35 lower limb hyperreflexia64 HP:0002395
36 high, narrow palate64 HP:0002705
37 elevated hepatic transaminases64 HP:0002910
38 elevated serum creatine phosphokinase64 HP:0003236
39 muscular dystrophy64 HP:0003560
40 prolonged partial thromboplastin time64 HP:0003645
41 short palm64 HP:0004279
42 reduced protein s activity64 HP:0004855
43 depressed nasal bridge64 HP:0005280
44 flat occiput64 HP:0005469
45 postnatal microcephaly64 HP:0005484
46 reduced protein c activity64 HP:0005543
47 knee flexion contracture64 HP:0006380
48 ankle contracture64 HP:0006466
49 pontocerebellar atrophy64 HP:0006879
50 upper limb undergrowth64 HP:0009824
51 severe global developmental delay64 54 Very frequent (99-80%) HP:0011344
52 camptodactyly64 HP:0012385
53 cortical visual impairment64 HP:0100704
54 small hand64 HP:0200055
55 abnormality of the eye54 Very frequent (99-80%)
56 abnormality of vision54 Very frequent (99-80%)

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 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 41)
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)SNVLikely pathogenic, Pathogenicrs190521996GRCh38Chr 16, 8811660: 8811660
6PMM2NM_000303.2(PMM2): c.442G> A (p.Asp148Asn)SNVPathogenicrs148032587GRCh37Chr 16, 8905030: 8905030
7PMM2NM_000303.2(PMM2): c.415G> A (p.Glu139Lys)SNVPathogenicrs80338703GRCh37Chr 16, 8905003: 8905003
8PMM2NM_000303.2(PMM2): c.653A> T (p.His218Leu)SNVPathogenicrs80338705GRCh37Chr 16, 8941594: 8941594
9PMM2NM_000303.2(PMM2): c.710C> T (p.Thr237Met)SNVLikely pathogenic, Pathogenicrs80338708GRCh37Chr 16, 8941651: 8941651
10PMM2NM_000303.2(PMM2): c.317A> T (p.Tyr106Phe)SNVPathogenicrs387906824GRCh37Chr 16, 8900234: 8900234
11DPM2NM_003863.3(DPM2): c.68A> G (p.Tyr23Cys)SNVPathogenicrs397514503GRCh37Chr 9, 130699738: 130699738
12DPM2NM_003863.3(DPM2): c.4_93del90SNVPathogenicrs797044467GRCh38Chr 9, 127937524: 127937524
13ALG13NM_001099922.2(ALG13): c.339A> G (p.Ala113=)SNVPathogenicrs397514587GRCh37Chr X, 110928287: 110928287
14DPM1NM_003859.2(DPM1): c.274C> G (p.Arg92Gly)SNVPathogenicrs121908583GRCh37Chr 20, 49565187: 49565187
15DPM1DPM1, 13-BP DELdeletionPathogenicChr na, -1: -1
16DPM1DPM1, 1-BP DEL, 628CdeletionPathogenicChr na, -1: -1
17ALG13NM_001257235.2(ALG13): c.8A> G (p.Asn3Ser)SNVPathogenicrs398122394GRCh37Chr X, 110928268: 110928268
18PMM2NM_000303.2(PMM2): c.422G> A (p.Arg141His)SNVPathogenicrs28936415GRCh37Chr 16, 8905010: 8905010
19PMM2NM_000303.2(PMM2): c.647A> T (p.Asn216Ile)SNVPathogenicrs78290141GRCh37Chr 16, 8941588: 8941588
20PMM2NM_000303.2(PMM2): c.385G> A (p.Val129Met)SNVLikely pathogenic, Pathogenicrs104894525GRCh37Chr 16, 8904973: 8904973
21PMM2NM_000303.2(PMM2): c.484C> T (p.Arg162Trp)SNVLikely pathogenic, Pathogenicrs104894526GRCh37Chr 16, 8905531: 8905531
22PMM2NM_000303.2(PMM2): c.193G> T (p.Asp65Tyr)SNVPathogenicrs104894527GRCh37Chr 16, 8898638: 8898638
23PMM2NM_000303.2(PMM2): c.357C> A (p.Phe119Leu)SNVPathogenicrs80338701GRCh37Chr 16, 8904945: 8904945
24PMM2NM_000303.2(PMM2): c.563A> G (p.Asp188Gly)SNVPathogenicrs80338704GRCh37Chr 16, 8906887: 8906887
25PMM2NM_000303.2(PMM2): c.349G> C (p.Gly117Arg)SNVPathogenicrs104894530GRCh37Chr 16, 8904937: 8904937
26PMM2NM_000303.2(PMM2): c.669C> G (p.Asp223Glu)SNVPathogenicrs104894531GRCh37Chr 16, 8941610: 8941610
27PMM2PMM2, 357C-ASNVPathogenicChr na, -1: -1
28PMM2NM_000303.2(PMM2): c.710C> G (p.Thr237Arg)SNVPathogenicrs80338708GRCh37Chr 16, 8941651: 8941651
29PMM2NM_000303.2(PMM2): c.722G> C (p.Cys241Ser)SNVPathogenicrs80338709GRCh37Chr 16, 8941663: 8941663
30PMM2NM_000303.2(PMM2): c.395T> C (p.Ile132Thr)SNVLikely pathogenic, Pathogenicrs80338702GRCh37Chr 16, 8904983: 8904983
31PMM2NM_000303.2(PMM2): c.691G> A (p.Val231Met)SNVPathogenicrs80338707GRCh37Chr 16, 8941632: 8941632
32PMM2NM_000303.2(PMM2): c.26G> A (p.Cys9Tyr)SNVLikely pathogenic, Pathogenicrs104894532GRCh37Chr 16, 8891765: 8891765
33PMM2NM_000303.2(PMM2): c.95T> G (p.Leu32Arg)SNVPathogenicrs104894533GRCh37Chr 16, 8895684: 8895684
34PMM2NM_000303.2(PMM2): c.677C> G (p.Thr226Ser)SNVPathogenicrs80338706GRCh37Chr 16, 8941618: 8941618
35PMM2NM_000303.2(PMM2): c.338C> T (p.Pro113Leu)SNVPathogenicrs80338700GRCh37Chr 16, 8900255: 8900255
36PMM2PMM2, IVS7, C-TSNVPathogenicChr na, -1: -1
37PMM2NM_000303.2(PMM2): c.131T> C (p.Val44Ala)SNVLikely pathogenic, Pathogenicrs104894534GRCh37Chr 16, 8895720: 8895720
38PMM2PMM2, 28-KB DELdeletionPathogenicChr na, -1: -1
39PMM2PMM2, IVS3AS, G-C, -1SNVPathogenicChr na, -1: -1
40PMM2NM_000303.2(PMM2): c.623G> C (p.Gly208Ala)SNVPathogenicrs398123309GRCh37Chr 16, 8906947: 8906947
41PMM2NM_000303.2(PMM2): c.95_96delTAinsGC (p.Leu32Arg)indelLikely pathogenic, Pathogenicrs398123312GRCh37Chr 16, 8895684: 8895685

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:003318510.3DPM1, DPM2
2platelet alpha granule lumenGO:00310939.4A2M, SERPINA1
3blood microparticleGO:00725629.2A2M, 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:001934810.5DPM1, DPM2
2GPI anchor biosynthetic processGO:000650610.4DPM1, DPM2
3protein N-linked glycosylation via asparagineGO:001827910.2DPM1, DPM2
4copper ion transportGO:000682510.1CP, HEPH
5acute-phase responseGO:00069539.9HP, SERPINA1
6protein O-linked mannosylationGO:00352699.9DPM1, DPM2
7cellular iron ion homeostasisGO:00068799.8CP, HEPH, TF
8platelet degranulationGO:00025769.5A2M, 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:000458210.3DPM1, DPM2
2copper ion bindingGO:000550710.0CP, 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