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

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

Name: Congenital Disorder of Glycosylation, Type Ie 54 13 69
Congenital Disorder of Glycosylation, Type is 54 13 69
Dpm2-Cdg 12 50 24
Carbohydrate Deficient Glycoprotein Syndrome Type Ie 56 29
Congenital Disorder of Glycosylation, Type Iu 50 69
Congenital Disorder of Glycosylation Type is 66 29
Congenital Disorder of Glycosylation Type I 12 14
Congenital Disorder of Glycosylation 1u 24 29
Cdg1e 56 66
Congenital Muscular Dystrophy with Intellectual Disability and Severe Epilepsy 50
Carbohydrate Deficient Glycoprotein Syndrome Type Iu 50
Cmd with Intellectual Disability and Severe Epilepsy 50
Epileptic Encephalopathy, Early Infantile, 36 66
Congenital Disorder of Glycosylation Type 1u 50
Congenital Disorder of Glycosylation Type Iu 50
Congenital Disorder of Glycosylation Type 1e 56
Congenital Disorder of Glycosylation Type Ie 56
Congenital Disorder of Glycosylation Iu 24
Congenital Disorder of Glycosylation 1e 66
Congenital Disorder of Glycosylation 1s 66
Dol-P-Mannosyltransferase Deficiency 56
Cdg Syndrome Type Iu 50
Cdg Syndrome Type Ie 56
Dpm1-Cdg 56
Cdg-Iu 50
Eiee36 66
Cdg Iu 24
Cdg-Ie 56
Cdg is 66
Cdg-is 66
Cdg1u 50
Cdgiu 24
Cdg1s 66
Cdgis 66

Characteristics:

Orphanet epidemiological data:

56
dpm1-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

32
congenital disorder of glycosylation, type ie:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity infantile onset progressive

congenital disorder of glycosylation, type is:
Onset and clinical course infantile onset
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0050570
Orphanet 56 ORPHA79322
ICD10 via Orphanet 34 E77.8

Summaries for Congenital Disorder of Glycosylation, Type Ie

UniProtKB/Swiss-Prot : 66 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 seizures, muscular hypotonia and microcephaly. An important gene associated with Congenital Disorder of Glycosylation, Type Ie is DPM1 (Dolichyl-Phosphate Mannosyltransferase Subunit 1, Catalytic), and among its related pathways/superpathways are Transport to the Golgi and subsequent modification and Insulin receptor recycling. Affiliated tissues include eye.

OMIM : 54 Congenital disorders of glycosylation (CDGs) are metabolic deficiencies in glycoprotein biosynthesis that usually cause... (608799) more...

Disease Ontology : 12 A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor.

Related Diseases for Congenital Disorder of Glycosylation, Type Ie

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)
id Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type iu 12.3
2 epileptic encephalopathy, early infantile, 36 12.3
3 congenital disorder of glycosylation type i/iix 12.1
4 congenital disorder of glycosylation, type iii 11.0
5 cog5-congenital disorder of glycosylation 11.0
6 congenital disorder of glycosylation, type ia 10.9
7 congenital disorder of glycosylation, type iid 10.6
8 congenital disorder of glycosylation, type ih 10.6
9 congenital disorder of glycosylation, type ig 10.6
10 gmppa-cdg 10.6
11 muscular dystrophy limb girdle type 2a, erb type 10.2 PMM2 TF
12 periventricular heterotopia with microcephaly 10.2 PMM2 TF
13 epileptic encephalopathy, early infantile, 13 10.2 CP TF
14 post-thrombotic syndrome 10.1 CP TF
15 neonatal urinary tract infectious disease 10.1 CP HP
16 hemoglobin c disease 10.1 HP TF
17 episcleritis periodica fugax 10.1 CP TF
18 ectodermal dysplasia bartalos type 10.1 CP TF
19 hematocele of tunica vaginalis testis 10.1 CP HP
20 choriodal dystrophy, central areolar 2 10.1 SERPINA1 TF
21 de quervain disease 10.1 CP SERPINA1
22 bladder sarcoma 10.1 CP TF
23 chondrosarcoma, extraskeletal myxoid 10.1 SERPINA1 TF
24 lymph node cancer 10.1 A2M SERPINA1
25 periosteal chondrosarcoma 10.1 A2M SERPINA1
26 growth retardation hydrocephaly lung hypoplasia 10.1 CP SERPINA1
27 spastic entropion 10.1 HP TF
28 esophageal leukoplakia 10.1 CP TF
29 bardet-biedl syndrome 8 10.1 A2M SERPINA1
30 homocystinuria 10.1 HP SERPINA1
31 kaolin pneumoconiosis 10.0 SERPINA1 TF
32 xfe progeroid syndrome 10.0 HP PMM2 TF
33 maturity-onset diabetes of the young, type 14 10.0 HP PMM2 TF
34 achilles bursitis 10.0 CP SERPINA1 TF
35 paragonimiasis 10.0 A2M CP HP
36 focal epithelial hyperplasia 9.9 HP SERPINA1 TF
37 lymphoid leukemia 9.9 CP SERPINA1 TF
38 anthracosis 9.9 A2M SERPINA1
39 female breast upper-inner quadrant cancer 9.9 CP HP
40 pyelitis 9.8 HP SLC35A2
41 facial paresis, hereditary congenital, 1 9.8 CP HEPH HP TF
42 fanconi anemia, complementation group c 9.8 HP PMM2 SERPINA1 TF
43 neuronal ceroid-lipofuscinoses 9.8 CP HEPH HP TF
44 nasu-hakola disease 9.6 CP HEPH HP SERPINA1 TF
45 ivic syndrome 8.6 A2M 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

Symptoms by clinical synopsis from OMIM:

300884 608799

Clinical features from OMIM:

608799 300884

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

56 32 (show top 50) (show all 55)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Very frequent (99-80%) HP:0001250
2 muscular hypotonia 56 32 Very frequent (99-80%) HP:0001252
3 microcephaly 56 32 Very frequent (99-80%) HP:0000252
4 abnormality of vision 56 32 Very frequent (99-80%) HP:0000504
5 severe global developmental delay 56 32 Very frequent (99-80%) HP:0011344
6 ataxia 32 HP:0001251
7 tremor 32 HP:0001337
8 respiratory distress 32 HP:0002098
9 abnormality of extrapyramidal motor function 32 HP:0002071
10 abnormal pyramidal signs 32 HP:0007256
11 hypertelorism 32 HP:0000316
12 hydrocephalus 32 HP:0000238
13 nystagmus 32 HP:0000639
14 failure to thrive 32 HP:0001508
15 eeg abnormality 32 HP:0002353
16 global developmental delay 32 HP:0001263
17 splenomegaly 32 HP:0001744
18 hepatomegaly 32 HP:0002240
19 depressed nasal bridge 32 HP:0005280
20 abnormal facial shape 32 HP:0001999
21 smooth philtrum 32 HP:0000319
22 optic atrophy 32 HP:0000648
23 flexion contracture 32 HP:0001371
24 retinopathy 32 HP:0000488
25 abnormality of the eye 56 Very frequent (99-80%)
26 elevated serum creatine phosphokinase 32 HP:0003236
27 micrognathia 32 HP:0000347
28 strabismus 32 HP:0000486
29 patent ductus arteriosus 32 HP:0001643
30 short palm 32 HP:0004279
31 upper limb undergrowth 32 HP:0009824
32 high, narrow palate 32 HP:0002705
33 elevated hepatic transaminases 32 HP:0002910
34 abnormality of the macula 32 HP:0001103
35 small hand 32 HP:0200055
36 downslanted palpebral fissures 32 HP:0000494
37 recurrent infections 32 HP:0002719
38 flat occiput 32 HP:0005469
39 nail dysplasia 32 HP:0002164
40 muscular dystrophy 32 HP:0003560
41 pontocerebellar atrophy 32 HP:0006879
42 prolonged partial thromboplastin time 32 HP:0003645
43 knee flexion contracture 32 HP:0006380
44 camptodactyly 32 HP:0012385
45 hemangioma 32 HP:0001028
46 telangiectasia 32 HP:0001009
47 cortical visual impairment 32 HP:0100704
48 horizontal nystagmus 32 HP:0000666
49 lower limb hyperreflexia 32 HP:0002395
50 postnatal microcephaly 32 HP:0005484

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

Search Clinical Trials , NIH Clinical Center for Congenital Disorder of Glycosylation, Type Ie

Genetic Tests for Congenital Disorder of Glycosylation, Type Ie

Genetic tests related to Congenital Disorder of Glycosylation, Type Ie:

id Genetic test Affiliating Genes
1 Carbohydrate-Deficient Glycoprotein Syndrome Type I 29
2 Congenital Disorder of Glycosylation Type 1e 29
3 Congenital Disorder of Glycosylation Type 1u 29
4 Congenital Disorder of Glycosylation Type 1y 29
5 Dpm2-Cdg (cdg-Iu) 24 DPM2

Anatomical Context for Congenital Disorder of Glycosylation, Type Ie

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

39
Eye

Publications for Congenital Disorder of Glycosylation, Type Ie

Articles related to Congenital Disorder of Glycosylation, Type Ie:

id Title Authors Year
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

UniProtKB/Swiss-Prot genetic disease variations for Congenital Disorder of Glycosylation, Type Ie:

66
id Symbol AA change Variation ID SNP ID
1 ALG13 p.Lys94Glu VAR_069218 rs867599353
2 ALG13 p.Asn107Ser VAR_069412 rs398122394
3 DPM1 p.Arg92Gly VAR_012341 rs121908583
4 DPM1 p.Ser248Pro VAR_019841 rs587777114
5 DPM1 p.Gly152Val VAR_070592 rs587777116

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

6 (show all 48)
id Gene Variation Type Significance SNP ID Assembly Location
1 DPM1 NM_003859.2(DPM1): c.274C> G (p.Arg92Gly) single nucleotide variant Pathogenic rs121908583 GRCh37 Chromosome 20, 49565187: 49565187
2 DPM1 DPM1, 13-BP DEL deletion Pathogenic
3 DPM1 DPM1, 1-BP DEL, 628C deletion Pathogenic
4 PMM2 NM_000303.2(PMM2): c.422G> A (p.Arg141His) single nucleotide variant Pathogenic rs28936415 GRCh37 Chromosome 16, 8905010: 8905010
5 PMM2 NM_000303.2(PMM2): c.647A> T (p.Asn216Ile) single nucleotide variant Pathogenic rs78290141 GRCh37 Chromosome 16, 8941588: 8941588
6 PMM2 NM_000303.2(PMM2): c.385G> A (p.Val129Met) single nucleotide variant Pathogenic/Likely pathogenic rs104894525 GRCh37 Chromosome 16, 8904973: 8904973
7 PMM2 NM_000303.2(PMM2): c.484C> T (p.Arg162Trp) single nucleotide variant Pathogenic/Likely pathogenic rs104894526 GRCh37 Chromosome 16, 8905531: 8905531
8 PMM2 NM_000303.2(PMM2): c.193G> T (p.Asp65Tyr) single nucleotide variant Pathogenic rs104894527 GRCh37 Chromosome 16, 8898638: 8898638
9 PMM2 NM_000303.2(PMM2): c.357C> A (p.Phe119Leu) single nucleotide variant Pathogenic rs80338701 GRCh37 Chromosome 16, 8904945: 8904945
10 PMM2 NM_000303.2(PMM2): c.563A> G (p.Asp188Gly) single nucleotide variant Pathogenic rs80338704 GRCh37 Chromosome 16, 8906887: 8906887
11 PMM2 NM_000303.2(PMM2): c.349G> C (p.Gly117Arg) single nucleotide variant Pathogenic rs104894530 GRCh37 Chromosome 16, 8904937: 8904937
12 PMM2 NM_000303.2(PMM2): c.669C> G (p.Asp223Glu) single nucleotide variant Pathogenic rs104894531 GRCh37 Chromosome 16, 8941610: 8941610
13 PMM2 PMM2, 357C-A single nucleotide variant Pathogenic
14 PMM2 NM_000303.2(PMM2): c.710C> G (p.Thr237Arg) single nucleotide variant Pathogenic rs80338708 GRCh37 Chromosome 16, 8941651: 8941651
15 PMM2 NM_000303.2(PMM2): c.722G> C (p.Cys241Ser) single nucleotide variant Pathogenic rs80338709 GRCh37 Chromosome 16, 8941663: 8941663
16 PMM2 NM_000303.2(PMM2): c.395T> C (p.Ile132Thr) single nucleotide variant Pathogenic/Likely pathogenic rs80338702 GRCh37 Chromosome 16, 8904983: 8904983
17 PMM2 NM_000303.2(PMM2): c.691G> A (p.Val231Met) single nucleotide variant Pathogenic rs80338707 GRCh37 Chromosome 16, 8941632: 8941632
18 PMM2 NM_000303.2(PMM2): c.26G> A (p.Cys9Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs104894532 GRCh37 Chromosome 16, 8891765: 8891765
19 PMM2 NM_000303.2(PMM2): c.95T> G (p.Leu32Arg) single nucleotide variant Pathogenic rs104894533 GRCh37 Chromosome 16, 8895684: 8895684
20 PMM2 NM_000303.2(PMM2): c.677C> G (p.Thr226Ser) single nucleotide variant Pathogenic rs80338706 GRCh37 Chromosome 16, 8941618: 8941618
21 PMM2 NM_000303.2(PMM2): c.338C> T (p.Pro113Leu) single nucleotide variant Pathogenic rs80338700 GRCh37 Chromosome 16, 8900255: 8900255
22 PMM2 PMM2, IVS7, C-T single nucleotide variant Pathogenic
23 PMM2 NM_000303.2(PMM2): c.131T> C (p.Val44Ala) single nucleotide variant Pathogenic/Likely pathogenic rs104894534 GRCh37 Chromosome 16, 8895720: 8895720
24 PMM2 PMM2, 28-KB DEL deletion Pathogenic
25 PMM2 PMM2, IVS3AS, G-C, -1 single nucleotide variant Pathogenic
26 PMM2 NM_000303.2(PMM2): c.415G> A (p.Glu139Lys) single nucleotide variant Pathogenic rs80338703 GRCh37 Chromosome 16, 8905003: 8905003
27 PMM2 NM_000303.2(PMM2): c.653A> T (p.His218Leu) single nucleotide variant Pathogenic rs80338705 GRCh37 Chromosome 16, 8941594: 8941594
28 PMM2 NM_000303.2(PMM2): c.710C> T (p.Thr237Met) single nucleotide variant Pathogenic/Likely pathogenic rs80338708 GRCh37 Chromosome 16, 8941651: 8941651
29 PMM2 NM_000303.2(PMM2): c.317A> T (p.Tyr106Phe) single nucleotide variant Pathogenic rs387906824 GRCh37 Chromosome 16, 8900234: 8900234
30 DPM2 NM_003863.3(DPM2): c.68A> G (p.Tyr23Cys) single nucleotide variant Pathogenic rs397514503 GRCh37 Chromosome 9, 130699738: 130699738
31 DPM2 NM_003863.3(DPM2): c.4_93del90 single nucleotide variant Pathogenic rs797044467 GRCh38 Chromosome 9, 127937524: 127937524
32 ALG13 NM_001099922.2(ALG13): c.339A> G (p.Ala113=) single nucleotide variant Pathogenic rs397514587 GRCh37 Chromosome X, 110928287: 110928287
33 ALG13 NM_001257235.2(ALG13): c.8A> G (p.Asn3Ser) single nucleotide variant Pathogenic rs398122394 GRCh37 Chromosome X, 110928268: 110928268
34 PMM2 NM_000303.2(PMM2): c.623G> C (p.Gly208Ala) single nucleotide variant Pathogenic rs398123309 GRCh37 Chromosome 16, 8906947: 8906947
35 PMM2 NM_000303.2(PMM2): c.95_96delTAinsGC (p.Leu32Arg) indel Pathogenic/Likely pathogenic rs398123312 GRCh37 Chromosome 16, 8895684: 8895685
36 DPM1 NM_003859.2(DPM1): c.742T> C (p.Ser248Pro) single nucleotide variant Pathogenic rs587777114 GRCh37 Chromosome 20, 49551710: 49551710
37 DPM1 NM_003859.2(DPM1): c.373-5T> A single nucleotide variant Pathogenic rs587777115 GRCh37 Chromosome 20, 49562304: 49562304
38 DPM1 NM_003859.2(DPM1): c.455G> T (p.Gly152Val) single nucleotide variant Pathogenic rs587777116 GRCh37 Chromosome 20, 49558607: 49558607
39 DPM1 NG_008923.1: g.(8339_14860)_(22659_27261)del deletion Pathogenic GRCh38 Chromosome 20, 50936263: 50955185
40 PMM2 NM_000303.2(PMM2): c.470T> C (p.Phe157Ser) single nucleotide variant Pathogenic/Likely pathogenic rs190521996 GRCh38 Chromosome 16, 8811660: 8811660
41 PMM2 NM_000303.2(PMM2): c.442G> A (p.Asp148Asn) single nucleotide variant Pathogenic rs148032587 GRCh37 Chromosome 16, 8905030: 8905030
42 SSR4 NM_006280.2(SSR4): c.316delT (p.Phe106Serfs) deletion Pathogenic rs606231298 GRCh38 Chromosome X, 153797779: 153797779
43 PMM2 NM_000303.2(PMM2): c.355T> C (p.Phe119Leu) single nucleotide variant Pathogenic rs1057517110 GRCh38 Chromosome 16, 8811086: 8811086
44 SSR4 NC_000023.10: g.153062612_153063511del900 deletion Pathogenic GRCh37 Chromosome X, 153062612: 153063511
45 SSR4 NM_001204527.1(SSR4): c.382_383delAG (p.Arg128Glufs) deletion Pathogenic/Likely pathogenic rs794729223 GRCh38 Chromosome X, 153798077: 153798078
46 SSR4 NM_001204527.1(SSR4): c.441+1G> A single nucleotide variant Pathogenic rs1057518735 GRCh38 Chromosome X, 153798137: 153798137
47 SSR4 NM_001204527.1(SSR4): c.442-1G> A single nucleotide variant Pathogenic rs1057518736 GRCh37 Chromosome X, 153063783: 153063783
48 PMM2 NM_000303.2(PMM2): c.255+1G> A single nucleotide variant Pathogenic rs1060499598 GRCh38 Chromosome 16, 8804844: 8804844

Expression for Congenital Disorder of Glycosylation, Type Ie

Search GEO for disease gene expression data for Congenital Disorder of Glycosylation, Type Ie.

Pathways for Congenital Disorder of Glycosylation, Type Ie

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.44 ALG13 DPM1 DPM2 PMM2 SERPINA1
2
Show member pathways
11.99 CP HEPH TF
3
Show member pathways
11.21 ALG13 DPM1 DPM2 PMM2
4 11.03 HEPH TF
5
Show member pathways
10.92 ALG13 DPM1 DPM2
6 10.86 CP TF

GO Terms for Congenital Disorder of Glycosylation, Type Ie

Cellular components related to Congenital Disorder of Glycosylation, Type Ie according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.72 A2M CP HP SERPINA1 TF
2 endoplasmic reticulum GO:0005783 9.55 ALG13 DPM1 DPM2 SERPINA1 SLC35A2
3 endoplasmic reticulum lumen GO:0005788 9.43 CP SERPINA1 TF
4 blood microparticle GO:0072562 9.26 A2M CP HP TF
5 dolichol-phosphate-mannose synthase complex GO:0033185 8.62 DPM1 DPM2

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.63 CP SERPINA1 TF
2 protein glycosylation GO:0006486 9.58 DPM1 DPM2 PMM2
3 protein N-linked glycosylation via asparagine GO:0018279 9.51 DPM1 DPM2
4 platelet degranulation GO:0002576 9.5 A2M SERPINA1 TF
5 iron ion homeostasis GO:0055072 9.49 HEPH TF
6 acute-phase response GO:0006953 9.48 HP SERPINA1
7 GPI anchor biosynthetic process GO:0006506 9.43 DPM1 DPM2
8 iron ion transport GO:0006826 9.37 HEPH TF
9 copper ion transport GO:0006825 9.26 CP HEPH
10 protein O-linked mannosylation GO:0035269 9.16 DPM1 DPM2
11 cellular iron ion homeostasis GO:0006879 9.13 CP HEPH TF
12 dolichol metabolic process GO:0019348 8.62 DPM1 DPM2

Molecular functions related to Congenital Disorder of Glycosylation, Type Ie according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 copper ion binding GO:0005507 9.26 CP HEPH
2 ferrous iron binding GO:0008198 9.16 HEPH TF
3 ferroxidase activity GO:0004322 8.96 CP HEPH
4 dolichyl-phosphate beta-D-mannosyltransferase activity GO:0004582 8.62 DPM1 DPM2

Sources for Congenital Disorder of Glycosylation, Type Ie

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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