MCID: CNG206
MIFTS: 40

Congenital Disorder of Glycosylation, Type Ie

Categories: Genetic diseases, Endocrine diseases, Fetal diseases, Liver diseases, Muscle diseases, Bone diseases, Neuronal diseases, Rare diseases, Metabolic diseases, Ear diseases, Cardiovascular diseases, Skin diseases, Nephrological diseases, Gastrointestinal diseases, Blood diseases, Mental 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 53 13 69
Cdg1e 53 55 71
Congenital Disorder of Glycosylation Type 1e 55 28
Carbohydrate Deficient Glycoprotein Syndrome Type Ie 55
Carbohydrate-Deficient Glycoprotein Syndrome Type I 28
Congenital Disorder of Glycosylation Type 1y 28
Congenital Disorder of Glycosylation Type Ie 55
Congenital Disorder of Glycosylation Type 1a 69
Congenital Disorder of Glycosylation 1e 71
Dol-P-Mannosyltransferase Deficiency 55
Cdg Syndrome Type Ie 55
Cdg Ie; Cdgie 53
Dpm1-Cdg 55
Cdg Ie 53
Cdg-Ie 55
Cdgie 53

Characteristics:

Orphanet epidemiological data:

55
dpm1-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity
progressive disorder


HPO:

31
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 : 71 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 cdg1e, is related to congenital disorder of glycosylation, type iy and ssr4-cdg, 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 Metabolism of proteins and Synthesis of substrates in N-glycan biosythesis. Affiliated tissues include brain, liver and testes.

OMIM : 53 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 in 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 Iq
Congenital Disorder of Glycosylation, Type Io 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 all 11)
# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type iy 31.2 DPM1 SSR4
2 ssr4-cdg 31.1 DPM1 SSR4
3 congenital disorder of glycosylation, type in 29.1 PMM2 SSR4
4 congenital disorder of glycosylation, type ic 11.3
5 congenital disorders of n-linked glycosylation and multiple pathway 10.6
6 congenital disorder of glycosylation, type io 10.2
7 alcohol abuse 10.0
8 olivopontocerebellar atrophy 10.0
9 dysostosis 10.0
10 thyroiditis 10.0
11 epileptic encephalopathy, early infantile, 36 9.2 DPM1 PMM2 SSR4

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 via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
seizures
tremor
cerebellar ataxia
pontocerebellar atrophy
hypotonia
more
Head And Neck Eyes:
hypertelorism
nystagmus
optic atrophy
retinopathy
strabismus
more
Abdomen Spleen:
splenomegaly

Head And Neck Face:
smooth philtrum
micrognathia

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

Respiratory:
respiratory distress

Growth Other:
failure to thrive

Abdomen Liver:
hepatomegaly

Cardiovascular Vascular:
patent ductus arteriosus

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

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

55 31 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 55 31 hallmark (90%) Very frequent (99-80%) HP:0001250
2 muscular hypotonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001252
3 microcephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000252
4 abnormality of vision 55 31 hallmark (90%) Very frequent (99-80%) HP:0000504
5 severe global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0011344
6 ataxia 31 HP:0001251
7 tremor 31 HP:0001337
8 respiratory distress 31 HP:0002098
9 hypertelorism 31 HP:0000316
10 nystagmus 31 HP:0000639
11 failure to thrive 31 HP:0001508
12 eeg abnormality 31 HP:0002353
13 splenomegaly 31 HP:0001744
14 hepatomegaly 31 HP:0002240
15 depressed nasal bridge 31 HP:0005280
16 smooth philtrum 31 HP:0000319
17 optic atrophy 31 HP:0000648
18 retinopathy 31 HP:0000488
19 abnormality of the eye 55 Very frequent (99-80%)
20 elevated serum creatine phosphokinase 31 HP:0003236
21 micrognathia 31 HP:0000347
22 strabismus 31 HP:0000486
23 patent ductus arteriosus 31 HP:0001643
24 short palm 31 HP:0004279
25 upper limb undergrowth 31 HP:0009824
26 high, narrow palate 31 HP:0002705
27 elevated hepatic transaminases 31 HP:0002910
28 small hand 31 HP:0200055
29 downslanted palpebral fissures 31 HP:0000494
30 flat occiput 31 HP:0005469
31 nail dysplasia 31 HP:0002164
32 muscular dystrophy 31 HP:0003560
33 pontocerebellar atrophy 31 HP:0006879
34 postnatal microcephaly 31 HP:0005484
35 generalized hypotonia 31 HP:0001290
36 prolonged partial thromboplastin time 31 HP:0003645
37 knee flexion contracture 31 HP:0006380
38 camptodactyly 31 HP:0012385
39 hemangioma 31 HP:0001028
40 telangiectasia 31 HP:0001009
41 cortical visual impairment 31 HP:0100704
42 lower limb hyperreflexia 31 HP:0002395
43 type i transferrin isoform profile 31 HP:0003642
44 ankle contracture 31 HP:0006466
45 reduced protein c activity 31 HP:0005543
46 reduced antithrombin iii activity 31 HP:0001976
47 abnormal macular morphology 31 HP:0001103
48 reduced protein s activity 31 HP:0004855

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


respiratory distress, tremor, seizures, cerebellar ataxia, weakness, vomiting, diarrhea, 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 28 PMM2
2 Congenital Disorder of Glycosylation Type 1e 28 DPM1
3 Congenital Disorder of Glycosylation Type 1y 28 SSR4

Anatomical Context for Congenital Disorder of Glycosylation, Type Ie

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

38
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:

71
# 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 all 47)
# Gene Variation Type Significance SNP ID Assembly Location
1 PMM2 NM_000303.2(PMM2): c.415G> A (p.Glu139Lys) single nucleotide variant Pathogenic rs80338703 GRCh37 Chromosome 16, 8905003: 8905003
2 PMM2 NM_000303.2(PMM2): c.653A> T (p.His218Leu) single nucleotide variant Pathogenic rs80338705 GRCh37 Chromosome 16, 8941594: 8941594
3 PMM2 NM_000303.2(PMM2): c.710C> T (p.Thr237Met) single nucleotide variant Pathogenic/Likely pathogenic rs80338708 GRCh37 Chromosome 16, 8941651: 8941651
4 PMM2 NM_000303.2(PMM2): c.317A> T (p.Tyr106Phe) single nucleotide variant Pathogenic rs387906824 GRCh37 Chromosome 16, 8900234: 8900234
5 PMM2 NM_000303.2(PMM2): c.323C> T (p.Ala108Val) single nucleotide variant Pathogenic/Likely pathogenic rs200503569 GRCh37 Chromosome 16, 8900240: 8900240
6 PMM2 NM_000303.2(PMM2): c.623G> C (p.Gly208Ala) single nucleotide variant Pathogenic rs398123309 GRCh37 Chromosome 16, 8906947: 8906947
7 PMM2 NM_000303.2(PMM2): c.95_96delTAinsGC (p.Leu32Arg) indel Pathogenic/Likely pathogenic rs398123312 GRCh37 Chromosome 16, 8895684: 8895685
8 DPM1 NM_003859.2(DPM1): c.742T> C (p.Ser248Pro) single nucleotide variant Pathogenic rs587777114 GRCh37 Chromosome 20, 49551710: 49551710
9 DPM1 NM_003859.2(DPM1): c.373-5T> A single nucleotide variant Pathogenic rs587777115 GRCh37 Chromosome 20, 49562304: 49562304
10 DPM1 NM_003859.2(DPM1): c.455G> T (p.Gly152Val) single nucleotide variant Pathogenic/Likely pathogenic rs587777116 GRCh37 Chromosome 20, 49558607: 49558607
11 DPM1 NG_008923.1: g.(8339_14860)_(22659_27261)del deletion Pathogenic GRCh38 Chromosome 20, 50936263: 50955185
12 PMM2 NM_000303.2(PMM2): c.470T> C (p.Phe157Ser) single nucleotide variant Pathogenic/Likely pathogenic rs190521996 GRCh38 Chromosome 16, 8811660: 8811660
13 PMM2 NM_000303.2(PMM2): c.442G> A (p.Asp148Asn) single nucleotide variant Pathogenic/Likely pathogenic rs148032587 GRCh37 Chromosome 16, 8905030: 8905030
14 DPM1 NM_003859.2(DPM1): c.274C> G (p.Arg92Gly) single nucleotide variant Pathogenic rs121908583 GRCh37 Chromosome 20, 49565187: 49565187
15 DPM1 DPM1, 13-BP DEL deletion Pathogenic
16 DPM1 DPM1, 1-BP DEL, 628C deletion Pathogenic
17 PMM2 NM_000303.2(PMM2): c.422G> A (p.Arg141His) single nucleotide variant Pathogenic rs28936415 GRCh37 Chromosome 16, 8905010: 8905010
18 PMM2 NM_000303.2(PMM2): c.647A> T (p.Asn216Ile) single nucleotide variant Pathogenic rs78290141 GRCh37 Chromosome 16, 8941588: 8941588
19 PMM2 NM_000303.2(PMM2): c.385G> A (p.Val129Met) single nucleotide variant Pathogenic/Likely pathogenic rs104894525 GRCh37 Chromosome 16, 8904973: 8904973
20 PMM2 NM_000303.2(PMM2): c.484C> T (p.Arg162Trp) single nucleotide variant Pathogenic/Likely pathogenic rs104894526 GRCh37 Chromosome 16, 8905531: 8905531
21 PMM2 NM_000303.2(PMM2): c.193G> T (p.Asp65Tyr) single nucleotide variant Pathogenic rs104894527 GRCh37 Chromosome 16, 8898638: 8898638
22 PMM2 NM_000303.2(PMM2): c.357C> A (p.Phe119Leu) single nucleotide variant Pathogenic rs80338701 GRCh37 Chromosome 16, 8904945: 8904945
23 PMM2 NM_000303.2(PMM2): c.563A> G (p.Asp188Gly) single nucleotide variant Pathogenic rs80338704 GRCh37 Chromosome 16, 8906887: 8906887
24 PMM2 NM_000303.2(PMM2): c.349G> C (p.Gly117Arg) single nucleotide variant Pathogenic rs104894530 GRCh37 Chromosome 16, 8904937: 8904937
25 PMM2 NM_000303.2(PMM2): c.669C> G (p.Asp223Glu) single nucleotide variant Pathogenic rs104894531 GRCh37 Chromosome 16, 8941610: 8941610
26 PMM2 PMM2, 357C-A single nucleotide variant Pathogenic
27 PMM2 NM_000303.2(PMM2): c.710C> G (p.Thr237Arg) single nucleotide variant Pathogenic/Likely pathogenic rs80338708 GRCh37 Chromosome 16, 8941651: 8941651
28 PMM2 NM_000303.2(PMM2): c.722G> C (p.Cys241Ser) single nucleotide variant Pathogenic rs80338709 GRCh37 Chromosome 16, 8941663: 8941663
29 PMM2 NM_000303.2(PMM2): c.395T> C (p.Ile132Thr) single nucleotide variant Pathogenic/Likely pathogenic rs80338702 GRCh37 Chromosome 16, 8904983: 8904983
30 PMM2 NM_000303.2(PMM2): c.691G> A (p.Val231Met) single nucleotide variant Pathogenic rs80338707 GRCh37 Chromosome 16, 8941632: 8941632
31 PMM2 NM_000303.2(PMM2): c.26G> A (p.Cys9Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs104894532 GRCh37 Chromosome 16, 8891765: 8891765
32 PMM2 NM_000303.2(PMM2): c.95T> G (p.Leu32Arg) single nucleotide variant Pathogenic rs104894533 GRCh37 Chromosome 16, 8895684: 8895684
33 PMM2 NM_000303.2(PMM2): c.677C> G (p.Thr226Ser) single nucleotide variant Pathogenic rs80338706 GRCh37 Chromosome 16, 8941618: 8941618
34 PMM2 NM_000303.2(PMM2): c.338C> T (p.Pro113Leu) single nucleotide variant Pathogenic rs80338700 GRCh37 Chromosome 16, 8900255: 8900255
35 PMM2 PMM2, IVS7, C-T single nucleotide variant Pathogenic
36 PMM2 NM_000303.2(PMM2): c.131T> C (p.Val44Ala) single nucleotide variant Pathogenic/Likely pathogenic rs104894534 GRCh37 Chromosome 16, 8895720: 8895720
37 PMM2 PMM2, 28-KB DEL deletion Pathogenic
38 PMM2 PMM2, IVS3AS, G-C, -1 single nucleotide variant Pathogenic
39 SSR4 NM_006280.2(SSR4): c.316delT (p.Phe106Serfs) deletion Pathogenic rs606231298 GRCh38 Chromosome X, 153797779: 153797779
40 PMM2 NM_000303.2(PMM2): c.368G> A (p.Arg123Gln) single nucleotide variant Pathogenic rs141498002 GRCh37 Chromosome 16, 8904956: 8904956
41 PMM2 NM_000303.2(PMM2): c.355T> C (p.Phe119Leu) single nucleotide variant Pathogenic rs1057517110 GRCh37 Chromosome 16, 8904943: 8904943
42 SSR4 NM_006280.2(SSR4): c.187-301_352-15del deletion Pathogenic GRCh37 Chromosome X, 153062612: 153063511
43 SSR4 NM_001204527.1(SSR4): c.382_383delAG (p.Arg128Glufs) deletion Pathogenic/Likely pathogenic rs794729223 GRCh38 Chromosome X, 153798077: 153798078
44 SSR4 NM_001204527.1(SSR4): c.441+1G> A single nucleotide variant Pathogenic rs1057518735 GRCh38 Chromosome X, 153798137: 153798137
45 SSR4 NM_001204527.1(SSR4): c.442-1G> A single nucleotide variant Pathogenic rs1057518736 GRCh37 Chromosome X, 153063783: 153063783
46 PMM2 NM_000303.2(PMM2): c.255+1G> A single nucleotide variant Pathogenic rs1060499598 GRCh37 Chromosome 16, 8898701: 8898701
47 DPM1 NM_003859.2(DPM1): c.409G> T (p.Glu137Ter) single nucleotide variant Pathogenic rs753780084 GRCh37 Chromosome 20, 49558653: 49558653

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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33 ICD10 via Orphanet
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36 KEGG
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41 MeSH
42 MESH via Orphanet
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65 SNOMED-CT via HPO
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70 UMLS via Orphanet
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