MCID: CNG206
MIFTS: 39

Congenital Disorder of Glycosylation, Type Ie

Categories: Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases, Liver diseases, Skin diseases, Cardiovascular diseases, Fetal diseases, Mental diseases, Blood diseases, Gastrointestinal diseases, Nephrological diseases, Ear diseases, Bone diseases, Muscle diseases, Endocrine 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 57 13 73
Congenital Disorder of Glycosylation Type 1e 59 29 6
Cdg1e 57 59 75
Carbohydrate-Deficient Glycoprotein Syndrome Type I 29 6
Congenital Disorder of Glycosylation Type 1y 29 6
Carbohydrate Deficient Glycoprotein Syndrome Type Ie 59
Congenital Disorder of Glycosylation Type Ie 59
Congenital Disorder of Glycosylation Type 1a 73
Congenital Disorder of Glycosylation 1e 75
Dol-P-Mannosyltransferase Deficiency 59
Cdg Syndrome Type Ie 59
Cdg Ie; Cdgie 57
Dpm1-Cdg 59
Cdg Ie 57
Cdg-Ie 59
Cdgie 57

Characteristics:

Orphanet epidemiological data:

59
dpm1-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity
progressive disorder


HPO:

32
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 : 75 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 ataxia, diarrhea and seizures. 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 : 57 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:

# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type in 28.5 PMM2 SSR4
2 congenital disorder of glycosylation, type ic 11.3
3 ssr4-cdg 11.3
4 congenital disorder of glycosylation, type iy 11.3
5 type i 10.6
6 congenital disorders of n-linked glycosylation and multiple pathway 10.6
7 alcohol abuse 10.0
8 olivopontocerebellar atrophy 10.0
9 dysostosis 10.0
10 thyroiditis 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

Symptoms via clinical synopsis from OMIM:

57
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
AbdomenSpleen:
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

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

59 32 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
2 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
3 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
4 abnormality of vision 59 32 hallmark (90%) Very frequent (99-80%) HP:0000504
5 severe global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0011344
6 hypertelorism 32 HP:0000316
7 nystagmus 32 HP:0000639
8 ataxia 32 HP:0001251
9 tremor 32 HP:0001337
10 failure to thrive 32 HP:0001508
11 eeg abnormality 32 HP:0002353
12 splenomegaly 32 HP:0001744
13 hepatomegaly 32 HP:0002240
14 depressed nasal bridge 32 HP:0005280
15 smooth philtrum 32 HP:0000319
16 optic atrophy 32 HP:0000648
17 retinopathy 32 HP:0000488
18 abnormality of the eye 59 Very frequent (99-80%)
19 elevated serum creatine phosphokinase 32 HP:0003236
20 micrognathia 32 HP:0000347
21 strabismus 32 HP:0000486
22 patent ductus arteriosus 32 HP:0001643
23 respiratory distress 32 HP:0002098
24 short palm 32 HP:0004279
25 upper limb undergrowth 32 HP:0009824
26 high, narrow palate 32 HP:0002705
27 elevated hepatic transaminases 32 HP:0002910
28 small hand 32 HP:0200055
29 downslanted palpebral fissures 32 HP:0000494
30 flat occiput 32 HP:0005469
31 nail dysplasia 32 HP:0002164
32 muscular dystrophy 32 HP:0003560
33 pontocerebellar atrophy 32 HP:0006879
34 postnatal microcephaly 32 HP:0005484
35 generalized hypotonia 32 HP:0001290
36 prolonged partial thromboplastin time 32 HP:0003645
37 knee flexion contracture 32 HP:0006380
38 camptodactyly 32 HP:0012385
39 hemangioma 32 HP:0001028
40 telangiectasia 32 HP:0001009
41 lower limb hyperreflexia 32 HP:0002395
42 cortical visual impairment 32 HP:0100704
43 ankle contracture 32 HP:0006466
44 type i transferrin isoform profile 32 HP:0003642
45 reduced protein c activity 32 HP:0005543
46 reduced antithrombin iii activity 32 HP:0001976
47 abnormal macular morphology 32 HP:0001103
48 reduced protein s activity 32 HP:0004855

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:

# 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:

41
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:

75
# 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 172)
# 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 NM_003859.2(DPM1): c.274C> G (p.Arg92Gly) single nucleotide variant Pathogenic rs121908583 GRCh38 Chromosome 20, 50948650: 50948650
3 DPM1 DPM1, 13-BP DEL deletion Pathogenic
4 DPM1 DPM1, 1-BP DEL, 628C deletion Pathogenic
5 PMM2 NM_000303.2(PMM2): c.422G> A (p.Arg141His) single nucleotide variant Pathogenic rs28936415 GRCh37 Chromosome 16, 8905010: 8905010
6 PMM2 NM_000303.2(PMM2): c.422G> A (p.Arg141His) single nucleotide variant Pathogenic rs28936415 GRCh38 Chromosome 16, 8811153: 8811153
7 PMM2 NM_000303.2(PMM2): c.647A> T (p.Asn216Ile) single nucleotide variant Pathogenic rs78290141 GRCh37 Chromosome 16, 8941588: 8941588
8 PMM2 NM_000303.2(PMM2): c.647A> T (p.Asn216Ile) single nucleotide variant Pathogenic rs78290141 GRCh38 Chromosome 16, 8847731: 8847731
9 PMM2 NM_000303.2(PMM2): c.385G> A (p.Val129Met) single nucleotide variant Pathogenic/Likely pathogenic rs104894525 GRCh37 Chromosome 16, 8904973: 8904973
10 PMM2 NM_000303.2(PMM2): c.385G> A (p.Val129Met) single nucleotide variant Pathogenic/Likely pathogenic rs104894525 GRCh38 Chromosome 16, 8811116: 8811116
11 PMM2 NM_000303.2(PMM2): c.484C> T (p.Arg162Trp) single nucleotide variant Pathogenic/Likely pathogenic rs104894526 GRCh37 Chromosome 16, 8905531: 8905531
12 PMM2 NM_000303.2(PMM2): c.484C> T (p.Arg162Trp) single nucleotide variant Pathogenic/Likely pathogenic rs104894526 GRCh38 Chromosome 16, 8811674: 8811674
13 PMM2 NM_000303.2(PMM2): c.193G> T (p.Asp65Tyr) single nucleotide variant Pathogenic rs104894527 GRCh37 Chromosome 16, 8898638: 8898638
14 PMM2 NM_000303.2(PMM2): c.193G> T (p.Asp65Tyr) single nucleotide variant Pathogenic rs104894527 GRCh38 Chromosome 16, 8804781: 8804781
15 PMM2 NM_000303.2(PMM2): c.357C> A (p.Phe119Leu) single nucleotide variant Pathogenic rs80338701 GRCh37 Chromosome 16, 8904945: 8904945
16 PMM2 NM_000303.2(PMM2): c.357C> A (p.Phe119Leu) single nucleotide variant Pathogenic rs80338701 GRCh38 Chromosome 16, 8811088: 8811088
17 PMM2 NM_000303.2(PMM2): c.563A> G (p.Asp188Gly) single nucleotide variant Pathogenic rs80338704 GRCh37 Chromosome 16, 8906887: 8906887
18 PMM2 NM_000303.2(PMM2): c.563A> G (p.Asp188Gly) single nucleotide variant Pathogenic rs80338704 GRCh38 Chromosome 16, 8813030: 8813030
19 PMM2 NM_000303.2(PMM2): c.349G> C (p.Gly117Arg) single nucleotide variant Pathogenic rs104894530 GRCh37 Chromosome 16, 8904937: 8904937
20 PMM2 NM_000303.2(PMM2): c.349G> C (p.Gly117Arg) single nucleotide variant Pathogenic rs104894530 GRCh38 Chromosome 16, 8811080: 8811080
21 PMM2 NM_000303.2(PMM2): c.669C> G (p.Asp223Glu) single nucleotide variant Pathogenic rs104894531 GRCh37 Chromosome 16, 8941610: 8941610
22 PMM2 NM_000303.2(PMM2): c.669C> G (p.Asp223Glu) single nucleotide variant Pathogenic rs104894531 GRCh38 Chromosome 16, 8847753: 8847753
23 PMM2 PMM2, 357C-A single nucleotide variant Pathogenic
24 PMM2 NM_000303.2(PMM2): c.710C> G (p.Thr237Arg) single nucleotide variant Pathogenic/Likely pathogenic rs80338708 GRCh37 Chromosome 16, 8941651: 8941651
25 PMM2 NM_000303.2(PMM2): c.710C> G (p.Thr237Arg) single nucleotide variant Pathogenic/Likely pathogenic rs80338708 GRCh38 Chromosome 16, 8847794: 8847794
26 PMM2 NM_000303.2(PMM2): c.722G> C (p.Cys241Ser) single nucleotide variant Pathogenic rs80338709 GRCh37 Chromosome 16, 8941663: 8941663
27 PMM2 NM_000303.2(PMM2): c.722G> C (p.Cys241Ser) single nucleotide variant Pathogenic rs80338709 GRCh38 Chromosome 16, 8847806: 8847806
28 PMM2 NM_000303.2(PMM2): c.395T> C (p.Ile132Thr) single nucleotide variant Likely pathogenic rs80338702 GRCh37 Chromosome 16, 8904983: 8904983
29 PMM2 NM_000303.2(PMM2): c.395T> C (p.Ile132Thr) single nucleotide variant Likely pathogenic rs80338702 GRCh38 Chromosome 16, 8811126: 8811126
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.691G> A (p.Val231Met) single nucleotide variant Pathogenic rs80338707 GRCh38 Chromosome 16, 8847775: 8847775
32 PMM2 NM_000303.2(PMM2): c.26G> A (p.Cys9Tyr) single nucleotide variant Likely pathogenic rs104894532 GRCh37 Chromosome 16, 8891765: 8891765
33 PMM2 NM_000303.2(PMM2): c.26G> A (p.Cys9Tyr) single nucleotide variant Likely pathogenic rs104894532 GRCh38 Chromosome 16, 8797908: 8797908
34 PMM2 NM_000303.2(PMM2): c.95T> G (p.Leu32Arg) single nucleotide variant Pathogenic rs104894533 GRCh37 Chromosome 16, 8895684: 8895684
35 PMM2 NM_000303.2(PMM2): c.95T> G (p.Leu32Arg) single nucleotide variant Pathogenic rs104894533 GRCh38 Chromosome 16, 8801827: 8801827
36 PMM2 NM_000303.2(PMM2): c.677C> G (p.Thr226Ser) single nucleotide variant Pathogenic rs80338706 GRCh37 Chromosome 16, 8941618: 8941618
37 PMM2 NM_000303.2(PMM2): c.677C> G (p.Thr226Ser) single nucleotide variant Pathogenic rs80338706 GRCh38 Chromosome 16, 8847761: 8847761
38 PMM2 NM_000303.2(PMM2): c.338C> T (p.Pro113Leu) single nucleotide variant Pathogenic rs80338700 GRCh37 Chromosome 16, 8900255: 8900255
39 PMM2 NM_000303.2(PMM2): c.338C> T (p.Pro113Leu) single nucleotide variant Pathogenic rs80338700 GRCh38 Chromosome 16, 8806398: 8806398
40 PMM2 PMM2, IVS7, C-T single nucleotide variant Pathogenic
41 PMM2 NM_000303.2(PMM2): c.131T> C (p.Val44Ala) single nucleotide variant Likely pathogenic rs104894534 GRCh37 Chromosome 16, 8895720: 8895720
42 PMM2 NM_000303.2(PMM2): c.131T> C (p.Val44Ala) single nucleotide variant Likely pathogenic rs104894534 GRCh38 Chromosome 16, 8801863: 8801863
43 PMM2 PMM2, 28-KB DEL deletion Pathogenic
44 PMM2 PMM2, IVS3AS, G-C, -1 single nucleotide variant Pathogenic
45 PMM2 NM_000303.2(PMM2): c.415G> A (p.Glu139Lys) single nucleotide variant Pathogenic rs80338703 GRCh37 Chromosome 16, 8905003: 8905003
46 PMM2 NM_000303.2(PMM2): c.415G> A (p.Glu139Lys) single nucleotide variant Pathogenic rs80338703 GRCh38 Chromosome 16, 8811146: 8811146
47 PMM2 NM_000303.2(PMM2): c.653A> T (p.His218Leu) single nucleotide variant Pathogenic rs80338705 GRCh37 Chromosome 16, 8941594: 8941594
48 PMM2 NM_000303.2(PMM2): c.653A> T (p.His218Leu) single nucleotide variant Pathogenic rs80338705 GRCh38 Chromosome 16, 8847737: 8847737
49 PMM2 NM_000303.2(PMM2): c.710C> T (p.Thr237Met) single nucleotide variant Pathogenic/Likely pathogenic rs80338708 GRCh37 Chromosome 16, 8941651: 8941651
50 PMM2 NM_000303.2(PMM2): c.710C> T (p.Thr237Met) single nucleotide variant Pathogenic/Likely pathogenic rs80338708 GRCh38 Chromosome 16, 8847794: 8847794

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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....