CDG1E
MCID: CNG206
MIFTS: 49

Congenital Disorder of Glycosylation, Type Ie (CDG1E)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases, Smell/Taste diseases

Aliases & Classifications for Congenital Disorder of Glycosylation, Type Ie

MalaCards integrated aliases for Congenital Disorder of Glycosylation, Type Ie:

Name: Congenital Disorder of Glycosylation, Type Ie 56 13 71
Congenital Disorder of Glycosylation Type 1y 52 29 6
Congenital Disorder of Glycosylation Type 1e 58 29 6
Congenital Disorder of Glycosylation Type I 12 15 17
Cdg1e 56 58 73
Carbohydrate-Deficient Glycoprotein Syndrome Type I 29 6
Congenital Disorder of Glycosylation 1e 12 73
Carbohydrate Deficient Glycoprotein Syndrome Type Iy 52
Carbohydrate Deficient Glycoprotein Syndrome Type Ie 58
Glycosylation, Congenital Disorder of, Type Ie 39
Glycosylation, Congenital Disorder of, Type is 39
Congenital Disorder of Glycosylation, Type Iy 52
Glycosylation, Congenital Disorder of, Type I 39
Congenital Disorder of Glycosylation Type Iy 52
Congenital Disorder of Glycosylation Type Ie 58
Congenital Disorder of Glycosylation Type 1a 71
Congenital Disorders of Glycosylation Type I 36
Congenital Disorder of Glycosylation Ie 12
Dol-P-Mannosyltransferase Deficiency 58
Cdg Syndrome Type Iy 52
Cdg Syndrome Type Ie 58
Cdg Ie; Cdgie 56
Ssr4-Cdg 52
Dpm1-Cdg 58
Cdg Iy 52
Cdg Ie 56
Cdg-Iy 52
Cdg-Ie 58
Cdg1y 52
Cdgiy 52
Cdgie 56

Characteristics:

Orphanet epidemiological data:

58
dpm1-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity
progressive disorder


HPO:

31
congenital disorder of glycosylation, type ie:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity infantile onset progressive


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Congenital Disorder of Glycosylation, Type Ie

UniProtKB/Swiss-Prot : 73 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.

MalaCards based summary : Congenital Disorder of Glycosylation, Type Ie, also known as congenital disorder of glycosylation type 1y, is related to congenital disorder of glycosylation, type iii and congenital disorder of glycosylation, type ii, and has symptoms including seizures, ataxia and tremor. 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 N-Glycan biosynthesis and Fructose and mannose metabolism. Affiliated tissues include eye, brain and liver, and related phenotypes are seizures and muscular hypotonia

Disease Ontology : 12 A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins.

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 370927 Definition SSR4-CDG is a form of congenital disorders of N-linked glycosylation characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability , hypotonia , microcephaly , seizures /epilepsy ), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus . The disease is caused by mutations in the gene SSR4 (Xq28). Visit the Orphanet disease page for more resources.

OMIM : 56 Congenital disorders of glycosylation (CDGs) are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. Different forms of CDGs can be recognized by altered isoelectric focusing (IEF) patterns of serum transferrin. For a general discussion of CDGs, see CDG Ia (212065) and CDG Ib (602579). (608799)

KEGG : 36 Congenital disorders of glycosylation (CDG) are a group of disorders caused by defects in various genes for N-glycan biosynthesis. CDG type I is defined by mutations in genes encoding enzymes which involves disrupted synthesis of the lipid linked oligosaccharide precursor and its transfer to polypeptide chain of protein, affecting N-glycan assembly in cytosol and endoplasmic reticulum. An increasing number of disorders have been discovered, with many subtypes identified. PMM2-CDG is the most common form, with over 800 patients diagnosed mostly in Europe. Almost all type present in infancy. These diseases demonstrate a broad range of clinical manifestation, associated with developmental delay, psychomotor retardation, hypotonia, seizures, hepatomegaly, microcephaly, and pericardial effusion.

Related Diseases for Congenital Disorder of Glycosylation, Type Ie

Diseases in the Disorder of Multiple Glycosylation family:

Congenital Disorder of Glycosylation, Type Ia Congenital Disorder of Glycosylation, Type Iia
Congenital Disorder of Glycosylation, Type I/iix Congenital Disorder of Glycosylation, Type Iic
Congenital Disorder of Glycosylation, Type Iim Congenital Disorder of Glycosylation, Type Iy
Congenital Disorder of Glycosylation, Type Id Congenital Disorder of Glycosylation, Type Ib
Congenital Disorder of Glycosylation, Type Ic Congenital Disorder of Glycosylation, Type Iif
Congenital Disorder of Glycosylation, Type Iib Congenital Disorder of Glycosylation, Type Iid
Congenital Disorder of Glycosylation, Type Ig Congenital Disorder of Glycosylation, Type Ii
Congenital Disorder of Glycosylation, Type Ij Congenital Disorder of Glycosylation, Type Ih
Congenital Disorder of Glycosylation, Type Ik Congenital Disorder of Glycosylation, Type Il
Congenital Disorder of Glycosylation, Type Ie Congenital Disorder of Glycosylation, Type if
Congenital Disorder of Glycosylation, Type Im Congenital Disorder of Glycosylation, Type Iih
Congenital Disorder of Glycosylation, Type Iig Congenital Disorder of Glycosylation, Type in
Congenital Disorder of Glycosylation, Type Iq Congenital Disorder of Glycosylation, Type Iij
Congenital Disorder of Glycosylation, Type Iii Congenital Disorder of Glycosylation, Type Ip
Congenital Disorder of Glycosylation, Type Ir Congenital Disorder of Glycosylation, Type Iil
Congenital Disorder of Glycosylation, Type Iik Congenital Disorder of Glycosylation, Type It
Congenital Disorder of Glycosylation, Type Iu Congenital Disorder of Glycosylation, Type Iw
Congenital Disorder of Glycosylation, Type Ix Congenital Disorder of Glycosylation, Type Iin
Congenital Disorder of Glycosylation, Type Iio Congenital Disorder of Glycosylation, Type Iip
Congenital Disorder of Glycosylation, Type Iiq

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

(show top 50) (show all 63)
# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type iii 32.5 PMM2 ALG2
2 congenital disorder of glycosylation, type ii 32.3 PMM2 DPM1 ALG2
3 congenital disorders of n-linked glycosylation and multiple pathway 30.6 ALG2 ALG13
4 congenital disorder of glycosylation, type in 29.7 SSR4 PMM2 DPM1 ALG2 ALG13
5 congenital disorder of glycosylation, type iy 12.7
6 congenital disorder of glycosylation, type i/iix 12.6
7 congenital disorder of glycosylation, type ic 11.9
8 epileptic encephalopathy, early infantile, 36 11.6
9 cog5-congenital disorder of glycosylation 11.4
10 congenital disorder of glycosylation, type ia 10.6
11 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type i 10.4
12 autosomal recessive disease 10.3
13 congenital disorder of glycosylation, type iik 10.2 PMM2 ALG2
14 aceruloplasminemia 10.2
15 congenital disorder of glycosylation, type iih 10.2 PMM2 ALG2
16 congenital disorder of glycosylation, type iid 10.2 PMM2 ALG2
17 congenital disorder of glycosylation, type iif 10.2 PMM2 ALG2
18 enterocolitis 10.2
19 protein-losing enteropathy 10.2
20 microcephaly 10.2
21 ataxia and polyneuropathy, adult-onset 10.2
22 congenital disorder of glycosylation, type iib 10.2 PMM2 ALG2
23 congenital disorder of glycosylation, type iia 10.1 PMM2 ALG2
24 alcohol dependence 10.1
25 cerebellar hypoplasia 10.1
26 dandy-walker syndrome 10.1
27 congenital disorder of glycosylation, type ib 10.1
28 abdominal obesity-metabolic syndrome 1 10.1
29 hemopericardium 10.1
30 pericardial effusion 10.1
31 polyneuropathy 10.1
32 olivopontocerebellar atrophy 10.1
33 alcohol use disorder 10.1
34 dysostosis 10.1
35 fundus dystrophy 10.1
36 hypoglycemia 10.1
37 congenital hepatic fibrosis 10.1
38 48,xyyy 10.1
39 inherited thyroxine-binding globulin deficiency 10.1
40 inherited retinal disorder 10.1
41 lysosomal storage disease with skeletal involvement 10.1
42 fructose intolerance, hereditary 10.0 PMM2 ALG2
43 carbohydrate metabolic disorder 10.0 PMM2 ALG2
44 coloboma of macula 10.0
45 retinitis pigmentosa 10.0
46 congenital disorder of glycosylation, type ij 10.0
47 muscular dystrophy-dystroglycanopathy , type c, 15 10.0
48 congenital disorder of glycosylation, type it 10.0
49 congenital disorder of glycosylation, type iu 10.0
50 muscular dystrophy-dystroglycanopathy 10.0

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

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

58 31 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 58 31 hallmark (90%) Very frequent (99-80%) HP:0001250
2 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
3 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
4 abnormality of vision 58 31 hallmark (90%) Very frequent (99-80%) HP:0000504
5 severe global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0011344
6 hypertelorism 31 HP:0000316
7 nystagmus 31 HP:0000639
8 ataxia 31 HP:0001251
9 tremor 31 HP:0001337
10 failure to thrive 31 HP:0001508
11 eeg abnormality 31 HP:0002353
12 splenomegaly 31 HP:0001744
13 hepatomegaly 31 HP:0002240
14 depressed nasal bridge 31 HP:0005280
15 micrognathia 31 HP:0000347
16 downslanted palpebral fissures 31 HP:0000494
17 smooth philtrum 31 HP:0000319
18 optic atrophy 31 HP:0000648
19 retinopathy 31 HP:0000488
20 abnormality of the eye 58 Very frequent (99-80%)
21 generalized hypotonia 31 HP:0001290
22 high, narrow palate 31 HP:0002705
23 strabismus 31 HP:0000486
24 patent ductus arteriosus 31 HP:0001643
25 respiratory distress 31 HP:0002098
26 short palm 31 HP:0004279
27 upper limb undergrowth 31 HP:0009824
28 elevated hepatic transaminase 31 HP:0002910
29 abnormal macular morphology 31 HP:0001103
30 small hand 31 HP:0200055
31 flat occiput 31 HP:0005469
32 hemangioma 31 HP:0001028
33 nail dysplasia 31 HP:0002164
34 muscular dystrophy 31 HP:0003560
35 pontocerebellar atrophy 31 HP:0006879
36 lower limb hyperreflexia 31 HP:0002395
37 camptodactyly 31 HP:0012385
38 knee flexion contracture 31 HP:0006380
39 postnatal microcephaly 31 HP:0005484
40 prolonged partial thromboplastin time 31 HP:0003645
41 cerebral visual impairment 31 HP:0100704
42 telangiectasia 31 HP:0001009
43 type i transferrin isoform profile 31 HP:0003642
44 reduced antithrombin iii activity 31 HP:0001976
45 reduced protein c activity 31 HP:0005543
46 reduced protein s activity 31 HP:0004855
47 elevated serum creatine kinase 31 HP:0003236
48 ankle flexion contracture 31 HP:0006466

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
nystagmus
optic atrophy
retinopathy
strabismus
more
Growth Other:
failure to thrive

Abdomen Liver:
hepatomegaly

Head And Neck Mouth:
high, narrow palate
'gothic' palate
inverted 'v-shaped' mouth

Respiratory:
respiratory distress

Muscle Soft Tissue:
muscular dystrophy
hypotonia
decreased glycosylation of alpha-dystroglycan
wide variation in fiber size

Skin Nails Hair Skin:
telangiectasia
hemangiomas

Head And Neck Nose:
flat nasal bridge

Laboratory Abnormalities:
increased serum creatine kinase
increased liver function tests
abnormal isoelectric focusing of serum transferrin (type i pattern)
decreased tetrasialotransferrin levels
increased disialotransferrin and asialotransferrin levels

Neurologic Central Nervous System:
seizures
tremor
pontocerebellar atrophy
cerebellar ataxia
hypotonia
more
Abdomen Spleen:
splenomegaly

Head And Neck Face:
micrognathia
smooth philtrum

Cardiovascular Vascular:
patent ductus arteriosus

Head And Neck Head:
flat occiput
microcephaly, acquired

Skeletal Hands:
camptodactyly
small hands

Skin Nails Hair Nails:
dysplastic nails

Skeletal Limbs:
knee contractures
ankle contractures
shortening of the arms

Hematology:
antithrombin iii deficiency
prolonged activated partial thromboplastin time (aptt)
protein s deficiency
protein c deficiency

Clinical features from OMIM:

608799

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


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

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:

# Genetic test Affiliating Genes
1 Carbohydrate-Deficient Glycoprotein Syndrome Type I 29 PMM2
2 Congenital Disorder of Glycosylation Type 1e 29 DPM1
3 Congenital Disorder of Glycosylation Type 1y 29 SSR4

Anatomical Context for Congenital Disorder of Glycosylation, Type Ie

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

40
Eye, Brain, Liver, Testes

Publications for Congenital Disorder of Glycosylation, Type Ie

Articles related to Congenital Disorder of Glycosylation, Type Ie:

# Title Authors PMID Year
1
Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie. 56 6 61
10642602 2000
2
Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy. 6 56
23856421 2013
3
A new intronic mutation in the DPM1 gene is associated with a milder form of CDG Ie in two French siblings. 56 6
16641202 2006
4
Congenital disorder of glycosylation (CDG) type Ie. A new patient. 6 56
15669674 2004
5
Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie) 6 56
10642597 2000
6
DMP1-CDG (CDG1e) with Significant Gastrointestinal Manifestations; Phenotype and Genotype Expansion. 61
27481510 2017

Variations for Congenital Disorder of Glycosylation, Type Ie

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

6 (show top 50) (show all 166) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DPM1 NM_003859.2(DPM1):c.274C>G (p.Arg92Gly)SNV Pathogenic 6296 rs121908583 20:49565187-49565187 20:50948650-50948650
2 DPM1 DPM1, 13-BP DELdeletion Pathogenic 6297
3 DPM1 NM_003859.2(DPM1):c.628del (p.Gln210fs)deletion Pathogenic 6298 rs1568757730 20:49552735-49552735 20:50936198-50936198
4 PMM2 NM_000303.3(PMM2):c.422G>A (p.Arg141His)SNV Pathogenic 7706 rs28936415 16:8905010-8905010 16:8811153-8811153
5 PMM2 NM_000303.3(PMM2):c.647A>T (p.Asn216Ile)SNV Pathogenic 7707 rs78290141 16:8941588-8941588 16:8847731-8847731
6 PMM2 NM_000303.3(PMM2):c.193G>T (p.Asp65Tyr)SNV Pathogenic 7710 rs104894527 16:8898638-8898638 16:8804781-8804781
7 PMM2 NM_000303.3(PMM2):c.357C>A (p.Phe119Leu)SNV Pathogenic 7711 rs80338701 16:8904945-8904945 16:8811088-8811088
8 PMM2 NM_000303.3(PMM2):c.349G>C (p.Gly117Arg)SNV Pathogenic 7713 rs104894530 16:8904937-8904937 16:8811080-8811080
9 PMM2 NM_000303.3(PMM2):c.669C>G (p.Asp223Glu)SNV Pathogenic 7714 rs104894531 16:8941610-8941610 16:8847753-8847753
10 PMM2 NM_000303.3(PMM2):c.722G>C (p.Cys241Ser)SNV Pathogenic 7717 rs80338709 16:8941663-8941663 16:8847806-8847806
11 PMM2 NM_000303.3(PMM2):c.691G>A (p.Val231Met)SNV Pathogenic 7719 rs80338707 16:8941632-8941632 16:8847775-8847775
12 PMM2 NM_000303.3(PMM2):c.95T>G (p.Leu32Arg)SNV Pathogenic 7721 rs104894533 16:8895684-8895684 16:8801827-8801827
13 PMM2 NM_000303.3(PMM2):c.677C>G (p.Thr226Ser)SNV Pathogenic 7722 rs80338706 16:8941618-8941618 16:8847761-8847761
14 PMM2 NM_000303.3(PMM2):c.338C>T (p.Pro113Leu)SNV Pathogenic 7723 rs80338700 16:8900255-8900255 16:8806398-8806398
15 PMM2 PMM2, 28-KB DELdeletion Pathogenic 7726
16 PMM2 NM_000303.3(PMM2):c.256-1G>CSNV Pathogenic 7727 16:8900172-8900172 16:8806315-8806315
17 PMM2 NM_000303.3(PMM2):c.653A>T (p.His218Leu)SNV Pathogenic 21144 rs80338705 16:8941594-8941594 16:8847737-8847737
18 DPM1 NM_003859.2(DPM1):c.742T>C (p.Ser248Pro)SNV Pathogenic 100634 rs587777114 20:49551710-49551710 20:50935173-50935173
19 DPM1 NM_003859.2(DPM1):c.373-5T>ASNV Pathogenic 100635 rs587777115 20:49562304-49562304 20:50945767-50945767
20 DPM1 NM_003859.2(DPM1):c.455G>T (p.Gly152Val)SNV Pathogenic 100636 rs587777116 20:49558607-49558607 20:50942070-50942070
21 DPM1 NC_000020.11:g.(50936263_50940865)_(50948664_50955185)deldeletion Pathogenic 100637 20:49552800-49571722 20:50936263-50955185
22 SSR4 NM_006280.3(SSR4):c.317del (p.Phe106fs)deletion Pathogenic 209110 rs606231298 X:153063234-153063234 X:153797779-153797779
23 PMM2 NM_000303.3(PMM2):c.355T>C (p.Phe119Leu)SNV Pathogenic 371231 rs1057517110 16:8904943-8904943 16:8811086-8811086
24 SSR4 NM_006280.3(SSR4):c.187-301_352-15deldeletion Pathogenic 372143 rs1557072752 X:153062612-153063511 X:153797157-153798056
25 SSR4 NM_006280.3(SSR4):c.417+1G>ASNV Pathogenic 372145 rs1057518735 X:153063592-153063592 X:153798137-153798137
26 SSR4 NM_006280.3(SSR4):c.418-1G>ASNV Pathogenic 372146 rs1057518736 X:153063783-153063783 X:153798328-153798328
27 DPM1 NM_003859.2(DPM1):c.409G>T (p.Glu137Ter)SNV Pathogenic 464504 rs753780084 20:49558653-49558653 20:50942116-50942116
28 PMM2 NC_000016.9:g.(?_8898599)_(8906983_?)deldeletion Pathogenic 530391 16:8898599-8906983 16:8804742-8813126
29 DPM1 NM_003859.2(DPM1):c.331_343del (p.Gly111fs)deletion Pathogenic 570864 rs1272097668 20:49562413-49562425 20:50945876-50945888
30 PMM2 NM_000303.3(PMM2):c.548T>C (p.Phe183Ser)SNV Pathogenic 651739 16:8906872-8906872 16:8813015-8813015
31 PMM2 NM_000303.3(PMM2):c.640-9T>GSNV Pathogenic 632945 rs370160676 16:8941572-8941572 16:8847715-8847715
32 PMM2 NM_000303.3(PMM2):c.55del (p.Ala19fs)deletion Pathogenic 659079 16:8891794-8891794 16:8797937-8797937
33 PMM2 NM_000303.3(PMM2):c.463C>T (p.Gln155Ter)SNV Pathogenic 656436 16:8905510-8905510 16:8811653-8811653
34 PMM2 NC_000016.9:g.(?_8891730)_(8906973_?)deldeletion Pathogenic 639371 16:8891730-8906973 16:8797873-8813116
35 PMM2 NC_000016.9:g.(?_8873316)_(8941702_?)deldeletion Pathogenic 661750 16:8873316-8941702 16:8779459-8847845
36 PMM2 NM_000303.3(PMM2):c.-167G>TSNV Pathogenic 656718 16:8891573-8891573 16:8797716-8797716
37 DPM1 NC_000020.10:g.(?_49551401)_(49575111_?)deldeletion Pathogenic 656838 20:49551401-49575111 20:50934864-50958574
38 PMM2 NM_000303.3(PMM2):c.109C>T (p.Gln37Ter)SNV Pathogenic/Likely pathogenic 632947 rs764353860 16:8895698-8895698 16:8801841-8801841
39 PMM2 NM_000303.3(PMM2):c.324del (p.Ile110fs)deletion Pathogenic/Likely pathogenic 503676 rs1555449314 16:8900241-8900241 16:8806384-8806384
40 PMM2 NM_000303.3(PMM2):c.392del (p.Pro131fs)deletion Pathogenic/Likely pathogenic 545732 rs1555449607 16:8904980-8904980 16:8811123-8811123
41 PMM2 NM_000303.3(PMM2):c.255+1G>ASNV Pathogenic/Likely pathogenic 417920 rs1060499598 16:8898701-8898701 16:8804844-8804844
42 SSR4 NM_006280.3(SSR4):c.356_357AG[1] (p.Arg120fs)short repeat Pathogenic/Likely pathogenic 372144 rs794729223 X:153063532-153063533 X:153798077-153798078
43 PMM2 NM_000303.3(PMM2):c.511dup (p.Thr171fs)duplication Pathogenic/Likely pathogenic 370217 rs1057516323 16:8905558-8905558 16:8811701-8811701
44 PMM2 NM_000303.3(PMM2):c.580C>T (p.Arg194Ter)SNV Pathogenic/Likely pathogenic 225443 rs199562225 16:8906904-8906904 16:8813047-8813047
45 PMM2 NM_000303.3(PMM2):c.442G>A (p.Asp148Asn)SNV Pathogenic/Likely pathogenic 197659 rs148032587 16:8905030-8905030 16:8811173-8811173
46 PMM2 NM_000303.3(PMM2):c.255+2T>CSNV Pathogenic/Likely pathogenic 321216 rs139716296 16:8898702-8898702 16:8804845-8804845
47 PMM2 NM_000303.3(PMM2):c.24del (p.Cys9fs)deletion Pathogenic/Likely pathogenic 188744 rs768021123 16:8891763-8891763 16:8797906-8797906
48 PMM2 NM_000303.3(PMM2):c.470T>C (p.Phe157Ser)SNV Pathogenic/Likely pathogenic 188763 rs190521996 16:8905517-8905517 16:8811660-8811660
49 PMM2 NM_000303.3(PMM2):c.710C>T (p.Thr237Met)SNV Pathogenic/Likely pathogenic 21145 rs80338708 16:8941651-8941651 16:8847794-8847794
50 PMM2 NM_000303.3(PMM2):c.415G>A (p.Glu139Lys)SNV Pathogenic/Likely pathogenic 21143 rs80338703 16:8905003-8905003 16:8811146-8811146

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

73
# Symbol AA change Variation ID SNP ID
1 DPM1 p.Arg92Gly VAR_012341 rs121908583
2 DPM1 p.Ser248Pro VAR_019841 rs587777114
3 DPM1 p.Gly152Val VAR_070592 rs587777116

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 KEGG:

36
# Name Kegg Source Accession
1 N-Glycan biosynthesis hsa00510
2 Fructose and mannose metabolism hsa00051
3 Protein processing in endoplasmic reticulum hsa04141

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:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.02 SSR4 SARAF DPM1 ALG2 ALG13

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

# Name GO ID Score Top Affiliating Genes
1 protein N-linked glycosylation via asparagine GO:0018279 9.26 UGGT1 DPM1
2 mannosylation GO:0097502 9.16 DPM1 ALG2
3 dolichol-linked oligosaccharide biosynthetic process GO:0006488 8.96 ALG2 ALG13
4 protein glycosylation GO:0006486 8.92 UGGT1 PMM2 DPM1 ALG2

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring glycosyl groups GO:0016757 8.92 UGGT1 DPM1 ALG2 ALG13

Sources for Congenital Disorder of Glycosylation, Type Ie

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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