CDG1E
MCID: CNG206
MIFTS: 40

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

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 58 13 74
Congenital Disorder of Glycosylation Type 1e 60 30 6
Cdg1e 58 60 76
Carbohydrate-Deficient Glycoprotein Syndrome Type I 30 6
Congenital Disorder of Glycosylation Type 1y 30 6
Carbohydrate Deficient Glycoprotein Syndrome Type Ie 60
Congenital Disorder of Glycosylation Type Ie 60
Congenital Disorder of Glycosylation Type 1a 74
Congenital Disorder of Glycosylation 1e 76
Dol-P-Mannosyltransferase Deficiency 60
Cdg Syndrome Type Ie 60
Cdg Ie; Cdgie 58
Dpm1-Cdg 60
Cdg Ie 58
Cdg-Ie 60
Cdgie 58

Characteristics:

Orphanet epidemiological data:

60
dpm1-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity
progressive disorder


HPO:

33
congenital disorder of glycosylation, type ie:
Onset and clinical course variable expressivity infantile onset progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Congenital Disorder of Glycosylation, Type Ie

UniProtKB/Swiss-Prot : 76 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 1e, is related to congenital disorder of glycosylation, type in and congenital disorder of glycosylation, type ic, 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 Metabolism of proteins and Transport to the Golgi and subsequent modification. Affiliated tissues include brain, liver and testes, and related phenotypes are seizures and muscular hypotonia

OMIM : 58 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)

Related Diseases for Congenital Disorder of Glycosylation, Type Ie

Diseases in the Congenital Disorder of Glycosylation, Type Ii 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 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:

# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type in 29.5 PMM2 SSR4
2 congenital disorder of glycosylation, type ic 11.4
3 congenital disorder of glycosylation, type iy 11.4
4 ssr4-cdg 11.4
5 congenital disorders of n-linked glycosylation and multiple pathway 10.2
6 alcohol abuse 10.1
7 olivopontocerebellar atrophy 10.1
8 dysostosis 10.1
9 congenital disorder of glycosylation, type iia 9.6 DPM1 PMM2

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:

60 33 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0001250
2 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
3 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
4 abnormality of vision 60 33 hallmark (90%) Very frequent (99-80%) HP:0000504
5 severe global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0011344
6 hypertelorism 33 HP:0000316
7 nystagmus 33 HP:0000639
8 ataxia 33 HP:0001251
9 tremor 33 HP:0001337
10 failure to thrive 33 HP:0001508
11 eeg abnormality 33 HP:0002353
12 splenomegaly 33 HP:0001744
13 hepatomegaly 33 HP:0002240
14 depressed nasal bridge 33 HP:0005280
15 smooth philtrum 33 HP:0000319
16 optic atrophy 33 HP:0000648
17 retinopathy 33 HP:0000488
18 abnormality of the eye 60 Very frequent (99-80%)
19 micrognathia 33 HP:0000347
20 strabismus 33 HP:0000486
21 patent ductus arteriosus 33 HP:0001643
22 respiratory distress 33 HP:0002098
23 short palm 33 HP:0004279
24 upper limb undergrowth 33 HP:0009824
25 high, narrow palate 33 HP:0002705
26 small hand 33 HP:0200055
27 downslanted palpebral fissures 33 HP:0000494
28 flat occiput 33 HP:0005469
29 nail dysplasia 33 HP:0002164
30 muscular dystrophy 33 HP:0003560
31 pontocerebellar atrophy 33 HP:0006879
32 generalized hypotonia 33 HP:0001290
33 ankle contracture 33 HP:0006466
34 knee flexion contracture 33 HP:0006380
35 postnatal microcephaly 33 HP:0005484
36 prolonged partial thromboplastin time 33 HP:0003645
37 camptodactyly 33 HP:0012385
38 hemangioma 33 HP:0001028
39 telangiectasia 33 HP:0001009
40 lower limb hyperreflexia 33 HP:0002395
41 type i transferrin isoform profile 33 HP:0003642
42 elevated serum creatine kinase 33 HP:0003236
43 cerebral visual impairment 33 HP:0100704
44 elevated hepatic transaminase 33 HP:0002910
45 reduced protein c activity 33 HP:0005543
46 reduced antithrombin iii activity 33 HP:0001976
47 abnormal macular morphology 33 HP:0001103
48 reduced protein s activity 33 HP:0004855

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
nystagmus
optic atrophy
retinopathy
strabismus
more
Growth Other:
failure to thrive

Abdomen Liver:
hepatomegaly

Cardiovascular Vascular:
patent ductus arteriosus

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

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

Skeletal Limbs:
knee contractures
ankle contractures
shortening of the arms

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

Head And Neck Face:
smooth philtrum
micrognathia

Respiratory:
respiratory distress

Head And Neck Head:
flat occiput
microcephaly, acquired

Skeletal Hands:
camptodactyly
small hands

Skin Nails Hair Nails:
dysplastic nails

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

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, weakness, cerebellar ataxia

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 30 PMM2
2 Congenital Disorder of Glycosylation Type 1e 30 DPM1
3 Congenital Disorder of Glycosylation Type 1y 30 SSR4

Anatomical Context for Congenital Disorder of Glycosylation, Type Ie

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

42
Brain, Liver, Testes, Eye

Publications for Congenital Disorder of Glycosylation, Type Ie

Articles related to Congenital Disorder of Glycosylation, Type Ie:

# 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:

76
# 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

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

6 (show top 50) (show all 272)
# Gene Variation Type Significance SNP ID Assembly Location
1 PMM2 NM_000303.2(PMM2): c.1A> G (p.Met1Val) single nucleotide variant Likely pathogenic rs786204591 GRCh38 Chromosome 16, 8797883: 8797883
2 PMM2 NM_000303.2(PMM2): c.1A> G (p.Met1Val) single nucleotide variant Likely pathogenic rs786204591 GRCh37 Chromosome 16, 8891740: 8891740
3 PMM2 NM_000303.2(PMM2): c.24delC (p.Cys9Alafs) deletion Pathogenic/Likely pathogenic rs768021123 GRCh37 Chromosome 16, 8891763: 8891763
4 PMM2 NM_000303.2(PMM2): c.24delC (p.Cys9Alafs) deletion Pathogenic/Likely pathogenic rs768021123 GRCh38 Chromosome 16, 8797906: 8797906
5 PMM2 NM_000303.2(PMM2): c.470T> C (p.Phe157Ser) single nucleotide variant Pathogenic/Likely pathogenic rs190521996 GRCh38 Chromosome 16, 8811660: 8811660
6 PMM2 NM_000303.2(PMM2): c.470T> C (p.Phe157Ser) single nucleotide variant Pathogenic/Likely pathogenic rs190521996 GRCh37 Chromosome 16, 8905517: 8905517
7 PMM2 NM_000303.2(PMM2): c.620T> C (p.Phe207Ser) single nucleotide variant Likely pathogenic rs532870929 GRCh38 Chromosome 16, 8813087: 8813087
8 PMM2 NM_000303.2(PMM2): c.620T> C (p.Phe207Ser) single nucleotide variant Likely pathogenic rs532870929 GRCh37 Chromosome 16, 8906944: 8906944
9 PMM2 NM_000303.2(PMM2): c.61C> T (p.Arg21Trp) single nucleotide variant Uncertain significance rs758340382 GRCh37 Chromosome 16, 8891800: 8891800
10 PMM2 NM_000303.2(PMM2): c.61C> T (p.Arg21Trp) single nucleotide variant Uncertain significance rs758340382 GRCh38 Chromosome 16, 8797943: 8797943
11 PMM2 NM_000303.2(PMM2): c.430T> C (p.Phe144Leu) single nucleotide variant Likely pathogenic rs150719105 GRCh37 Chromosome 16, 8905018: 8905018
12 PMM2 NM_000303.2(PMM2): c.430T> C (p.Phe144Leu) single nucleotide variant Likely pathogenic rs150719105 GRCh38 Chromosome 16, 8811161: 8811161
13 PMM2 NM_000303.2(PMM2): c.442G> A (p.Asp148Asn) single nucleotide variant Pathogenic/Likely pathogenic rs148032587 GRCh37 Chromosome 16, 8905030: 8905030
14 PMM2 NM_000303.2(PMM2): c.442G> A (p.Asp148Asn) single nucleotide variant Pathogenic/Likely pathogenic rs148032587 GRCh38 Chromosome 16, 8811173: 8811173
15 PMM2 NM_000303.2(PMM2): c.647A> G (p.Asn216Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs78290141 GRCh37 Chromosome 16, 8941588: 8941588
16 PMM2 NM_000303.2(PMM2): c.647A> G (p.Asn216Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs78290141 GRCh38 Chromosome 16, 8847731: 8847731
17 PMM2 NM_000303.2(PMM2): c.713G> A (p.Arg238His) single nucleotide variant Uncertain significance rs151319324 GRCh37 Chromosome 16, 8941654: 8941654
18 PMM2 NM_000303.2(PMM2): c.713G> A (p.Arg238His) single nucleotide variant Uncertain significance rs151319324 GRCh38 Chromosome 16, 8847797: 8847797
19 SSR4 NM_006280.2(SSR4): c.316delT (p.Phe106Serfs) deletion Pathogenic rs606231298 GRCh38 Chromosome X, 153797779: 153797779
20 SSR4 NM_006280.2(SSR4): c.316delT (p.Phe106Serfs) deletion Pathogenic rs606231298 GRCh37 Chromosome X, 153063234: 153063234
21 DPM1 NM_003859.2(DPM1): c.274C> G (p.Arg92Gly) single nucleotide variant Pathogenic rs121908583 GRCh37 Chromosome 20, 49565187: 49565187
22 DPM1 NM_003859.2(DPM1): c.274C> G (p.Arg92Gly) single nucleotide variant Pathogenic rs121908583 GRCh38 Chromosome 20, 50948650: 50948650
23 DPM1 DPM1, 13-BP DEL deletion Pathogenic
24 DPM1 NM_003859.2(DPM1): c.628del (p.Gln210Argfs) deletion Pathogenic GRCh37 Chromosome 20, 49552735: 49552735
25 DPM1 NM_003859.2(DPM1): c.628del (p.Gln210Argfs) deletion Pathogenic GRCh38 Chromosome 20, 50936198: 50936198
26 PMM2 NM_000303.2(PMM2): c.422G> A (p.Arg141His) single nucleotide variant Pathogenic rs28936415 GRCh37 Chromosome 16, 8905010: 8905010
27 PMM2 NM_000303.2(PMM2): c.422G> A (p.Arg141His) single nucleotide variant Pathogenic rs28936415 GRCh38 Chromosome 16, 8811153: 8811153
28 PMM2 NM_000303.2(PMM2): c.647A> T (p.Asn216Ile) single nucleotide variant Pathogenic rs78290141 GRCh37 Chromosome 16, 8941588: 8941588
29 PMM2 NM_000303.2(PMM2): c.647A> T (p.Asn216Ile) single nucleotide variant Pathogenic rs78290141 GRCh38 Chromosome 16, 8847731: 8847731
30 PMM2 NM_000303.2(PMM2): c.385G> A (p.Val129Met) single nucleotide variant Pathogenic/Likely pathogenic rs104894525 GRCh37 Chromosome 16, 8904973: 8904973
31 PMM2 NM_000303.2(PMM2): c.385G> A (p.Val129Met) single nucleotide variant Pathogenic/Likely pathogenic rs104894525 GRCh38 Chromosome 16, 8811116: 8811116
32 PMM2 NM_000303.2(PMM2): c.484C> T (p.Arg162Trp) single nucleotide variant Pathogenic/Likely pathogenic rs104894526 GRCh37 Chromosome 16, 8905531: 8905531
33 PMM2 NM_000303.2(PMM2): c.484C> T (p.Arg162Trp) single nucleotide variant Pathogenic/Likely pathogenic rs104894526 GRCh38 Chromosome 16, 8811674: 8811674
34 PMM2 NM_000303.2(PMM2): c.193G> T (p.Asp65Tyr) single nucleotide variant Pathogenic rs104894527 GRCh37 Chromosome 16, 8898638: 8898638
35 PMM2 NM_000303.2(PMM2): c.193G> T (p.Asp65Tyr) single nucleotide variant Pathogenic rs104894527 GRCh38 Chromosome 16, 8804781: 8804781
36 PMM2 NM_000303.2(PMM2): c.357C> A (p.Phe119Leu) single nucleotide variant Pathogenic rs80338701 GRCh37 Chromosome 16, 8904945: 8904945
37 PMM2 NM_000303.2(PMM2): c.357C> A (p.Phe119Leu) single nucleotide variant Pathogenic rs80338701 GRCh38 Chromosome 16, 8811088: 8811088
38 PMM2 NM_000303.2(PMM2): c.563A> G (p.Asp188Gly) single nucleotide variant Pathogenic/Likely pathogenic rs80338704 GRCh37 Chromosome 16, 8906887: 8906887
39 PMM2 NM_000303.2(PMM2): c.563A> G (p.Asp188Gly) single nucleotide variant Pathogenic/Likely pathogenic rs80338704 GRCh38 Chromosome 16, 8813030: 8813030
40 PMM2 NM_000303.2(PMM2): c.349G> C (p.Gly117Arg) single nucleotide variant Pathogenic rs104894530 GRCh37 Chromosome 16, 8904937: 8904937
41 PMM2 NM_000303.2(PMM2): c.349G> C (p.Gly117Arg) single nucleotide variant Pathogenic rs104894530 GRCh38 Chromosome 16, 8811080: 8811080
42 PMM2 NM_000303.2(PMM2): c.669C> G (p.Asp223Glu) single nucleotide variant Pathogenic rs104894531 GRCh37 Chromosome 16, 8941610: 8941610
43 PMM2 NM_000303.2(PMM2): c.669C> G (p.Asp223Glu) single nucleotide variant Pathogenic rs104894531 GRCh38 Chromosome 16, 8847753: 8847753
44 PMM2 NM_000303.2(PMM2): c.710C> G (p.Thr237Arg) single nucleotide variant Pathogenic/Likely pathogenic rs80338708 GRCh37 Chromosome 16, 8941651: 8941651
45 PMM2 NM_000303.2(PMM2): c.710C> G (p.Thr237Arg) single nucleotide variant Pathogenic/Likely pathogenic rs80338708 GRCh38 Chromosome 16, 8847794: 8847794
46 PMM2 NM_000303.2(PMM2): c.722G> C (p.Cys241Ser) single nucleotide variant Pathogenic rs80338709 GRCh37 Chromosome 16, 8941663: 8941663
47 PMM2 NM_000303.2(PMM2): c.722G> C (p.Cys241Ser) single nucleotide variant Pathogenic rs80338709 GRCh38 Chromosome 16, 8847806: 8847806
48 PMM2 NM_000303.2(PMM2): c.395T> C (p.Ile132Thr) single nucleotide variant Likely pathogenic rs80338702 GRCh37 Chromosome 16, 8904983: 8904983
49 PMM2 NM_000303.2(PMM2): c.395T> C (p.Ile132Thr) single nucleotide variant Likely pathogenic rs80338702 GRCh38 Chromosome 16, 8811126: 8811126
50 PMM2 NM_000303.2(PMM2): c.691G> A (p.Val231Met) single nucleotide variant Pathogenic rs80338707 GRCh37 Chromosome 16, 8941632: 8941632

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

GO Terms for Congenital Disorder of Glycosylation, Type Ie

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 glycosylation GO:0006486 8.62 DPM1 PMM2

Sources for Congenital Disorder of Glycosylation, Type Ie

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7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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45 MeSH
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