CDG1U
MCID: CNG386
MIFTS: 34

Congenital Disorder of Glycosylation, Type Iu (CDG1U)

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 Iu

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

Name: Congenital Disorder of Glycosylation, Type Iu 56 52 13 71
Congenital Disorder of Glycosylation Type 1u 52 58 29 6
Cdg1u 56 52 58 73
Congenital Disorder of Glycosylation Type Iu 52 58 73
Cdg-Iu 52 58 73
Congenital Muscular Dystrophy with Intellectual Disability and Severe Epilepsy 52 58
Carbohydrate Deficient Glycoprotein Syndrome Type Iu 52 58
Cmd with Intellectual Disability and Severe Epilepsy 52 58
Congenital Disorder of Glycosylation 1u 12 73
Cdg Syndrome Type Iu 52 58
Dpm2-Cdg 52 58
Cdg Iu 56 73
Cdgiu 56 73
Glycosylation, Congenital Disorder of, Type Iu 39
Congenital Disorder of Glycosylation Iu 12
Cdg Iu; Cdgiu 56

Characteristics:

Orphanet epidemiological data:

58
congenital muscular dystrophy with intellectual disability and severe epilepsy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
death in early childhood
three patients have been described (last curated january 2013)


HPO:

31
congenital disorder of glycosylation, type iu:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare hepatic diseases
Inborn errors of metabolism


Summaries for Congenital Disorder of Glycosylation, Type Iu

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 329178 Definition Congenital muscular dystrophy with intellectual disability and severe epilepsy is a rare, fatal, inborn error of metabolism disorder characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay , early-onset intractable seizures , myopathic fascies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly , low anterior hairline, arched eyebrows, hypotelorism, strabismus , small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia , malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels. Scoliosis , optic atrophy, mild hepatomegaly, and hypoplastic genitalia may also be associated. Visit the Orphanet disease page for more resources.

MalaCards based summary : Congenital Disorder of Glycosylation, Type Iu, also known as congenital disorder of glycosylation type 1u, is related to epileptic encephalopathy, early infantile, 36 and muscular dystrophy-dystroglycanopathy. An important gene associated with Congenital Disorder of Glycosylation, Type Iu is DPM2 (Dolichyl-Phosphate Mannosyltransferase Subunit 2, Regulatory). Affiliated tissues include liver, and related phenotypes are osteopenia and failure to thrive

Disease Ontology : 12 A congenital disorder of glycosylation I that is characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic fascies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels and has material basis in homozygous or compound heterozygous mutation in the DPM2 gene on chromosome 9q34.

UniProtKB/Swiss-Prot : 73 Congenital disorder of glycosylation 1U: 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 CDG1U patients have dystrophic changes seen on muscle biopsy and reduced O-mannosyl glycans on alpha- dystroglycan.

More information from OMIM: 615042 PS212065

Related Diseases for Congenital Disorder of Glycosylation, Type Iu

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 Iu via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, early infantile, 36 11.6
2 muscular dystrophy-dystroglycanopathy 10.1
3 epilepsy 10.1
4 muscular dystrophy 10.1
5 microcephaly 10.1
6 congenital disorders of n-linked glycosylation and multiple pathway 10.1
7 congenital muscular dystrophy due to dystroglycanopathy 10.1
8 hypotonia 10.1
9 qualitative or quantitative defects of alpha-dystroglycan 10.1

Graphical network of the top 20 diseases related to Congenital Disorder of Glycosylation, Type Iu:



Diseases related to Congenital Disorder of Glycosylation, Type Iu

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Iu

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

58 31 (show top 50) (show all 51)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteopenia 58 31 frequent (33%) Frequent (79-30%) HP:0000938
2 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
3 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
4 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
5 abnormal facial shape 58 31 frequent (33%) Frequent (79-30%) HP:0001999
6 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
7 optic atrophy 58 31 frequent (33%) Occasional (29-5%) HP:0000648
8 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
9 generalized myoclonic seizures 58 31 frequent (33%) Frequent (79-30%) HP:0002123
10 absent speech 58 31 frequent (33%) Frequent (79-30%) HP:0001344
11 cerebellar hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0001321
12 epileptic encephalopathy 58 31 frequent (33%) Frequent (79-30%) HP:0200134
13 myopathic facies 58 31 frequent (33%) Frequent (79-30%) HP:0002058
14 poor head control 58 31 frequent (33%) Frequent (79-30%) HP:0002421
15 generalized clonic seizures 58 31 frequent (33%) Frequent (79-30%) HP:0011169
16 contractures of the large joints 58 31 frequent (33%) Frequent (79-30%) HP:0005781
17 progressive microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000253
18 type i transferrin isoform profile 58 31 frequent (33%) Frequent (79-30%) HP:0003642
19 absent smooth pursuit 58 31 frequent (33%) Frequent (79-30%) HP:0007179
20 elevated serum creatine kinase 31 frequent (33%) HP:0003236
21 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
22 dental malocclusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000689
23 recurrent respiratory infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002205
24 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
25 short nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0003196
26 polyhydramnios 58 31 occasional (7.5%) Occasional (29-5%) HP:0001561
27 nasogastric tube feeding 58 31 occasional (7.5%) Occasional (29-5%) HP:0040288
28 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
29 respiratory distress 58 31 occasional (7.5%) Occasional (29-5%) HP:0002098
30 elevated hepatic transaminase 58 31 occasional (7.5%) Occasional (29-5%) HP:0002910
31 thin upper lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000219
32 deep philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002002
33 trigonocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000243
34 low anterior hairline 58 31 occasional (7.5%) Occasional (29-5%) HP:0000294
35 hypotelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000601
36 abnormality of the periventricular white matter 58 31 occasional (7.5%) Occasional (29-5%) HP:0002518
37 eeg with burst suppression 58 31 occasional (7.5%) Occasional (29-5%) HP:0010851
38 external genital hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003241
39 cerebral white matter atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0012762
40 reduced antithrombin iii activity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001976
41 seizures 31 HP:0001250
42 feeding difficulties 31 HP:0011968
43 elevated serum creatine phosphokinase 58 Frequent (79-30%)
44 neonatal respiratory distress 31 HP:0002643
45 severe muscular hypotonia 31 HP:0006829
46 hypokinesia 31 HP:0002375
47 congenital contracture 31 HP:0002803
48 postnatal microcephaly 31 HP:0005484
49 abnormal isoelectric focusing of serum transferrin 31 HP:0003160
50 primitive reflex 31 HP:0002476

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis

Head And Neck Eyes:
strabismus
hypotelorism
optic atrophy (in 1 of 3 patients)

Head And Neck Mouth:
thin upper lip
high-arched palate

Head And Neck Head:
microcephaly, postnatal

Laboratory Abnormalities:
increased serum creatine kinase
increased serum transaminases (in 1 of 3 patients)
abnormal n-glycosylation of transferrin
fibroblasts accumulate dol-pp-glcnac2man5

Muscle Soft Tissue:
hypotonia, severe
dystrophic changes seen on muscle biopsy
reduced o-mannosyl glycans on alpha-dystroglycan

Head And Neck Face:
micrognathia
myopathic facies

Neurologic Central Nervous System:
cerebellar hypoplasia
seizures, refractory
primitive reflexes
lack of psychomotor development
absence of spontaneous movements
more
Head And Neck Nose:
small nose

Abdomen Gastrointestinal:
poor feeding

Skeletal:
congenital contractures

Respiratory:
respiratory distress at birth

Clinical features from OMIM:

615042

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type Iu

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

Genetic Tests for Congenital Disorder of Glycosylation, Type Iu

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

# Genetic test Affiliating Genes
1 Congenital Disorder of Glycosylation Type 1u 29 DPM2

Anatomical Context for Congenital Disorder of Glycosylation, Type Iu

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

40
Liver

Publications for Congenital Disorder of Glycosylation, Type Iu

Articles related to Congenital Disorder of Glycosylation, Type Iu:

# Title Authors PMID Year
1
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. 56 61 6
23109149 2012
2
Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy. 6 56
19901254 2009
3
Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview 6
20301507 2005
4
A mutation in mannose-phosphate-dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy. 61
31741824 2019
5
Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs). 61
26453362 2016
6
Congenital disorders of glycosylation with emphasis on cerebellar involvement. 61
25192513 2014

Variations for Congenital Disorder of Glycosylation, Type Iu

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

6 (show all 16) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DPM2 NM_003863.3(DPM2):c.68A>G (p.Tyr23Cys)SNV Pathogenic 39446 rs397514503 9:130699738-130699738 9:127937459-127937459
2 DPM2 NM_003863.3(DPM2):c.4-1G>CSNV Pathogenic 39447 rs797044467 9:130699803-130699803 9:127937524-127937524
3 DPM2 NM_003863.3(DPM2):c.177C>T (p.Leu59=)SNV Conflicting interpretations of pathogenicity 128918 rs35334863 9:130698851-130698851 9:127936572-127936572
4 DPM2 NM_003863.3(DPM2):c.208T>G (p.Ser70Ala)SNV Uncertain significance 540608 rs759597928 9:130698048-130698048 9:127935769-127935769
5 DPM2 NM_003863.3(DPM2):c.145T>A (p.Tyr49Asn)SNV Uncertain significance 540610 rs755055369 9:130698883-130698883 9:127936604-127936604
6 DPM2 NM_003863.3(DPM2):c.154G>A (p.Ala52Thr)SNV Uncertain significance 540609 rs147263320 9:130698874-130698874 9:127936595-127936595
7 DPM2 NM_003863.3(DPM2):c.16G>A (p.Asp6Asn)SNV Uncertain significance 567111 rs1564141716 9:130699790-130699790 9:127937511-127937511
8 DPM2 NM_003863.3(DPM2):c.146A>G (p.Tyr49Cys)SNV Uncertain significance 568680 9:130698882-130698882 9:127936603-127936603
9 DPM2 NM_003863.3(DPM2):c.37del (p.Leu13fs)deletion Uncertain significance 632533 rs1349389319 9:130699768-130699769 9:127937491-127937491
10 DPM2 NM_003863.3(DPM2):c.212_213delinsGC (p.Tyr71Cys)indel Uncertain significance 652697 9:130698043-130698044 9:127935764-127935765
11 DPM2 NM_003863.3(DPM2):c.107G>A (p.Ser36Asn)SNV Uncertain significance 650014 9:130698921-130698921 9:127936642-127936642
12 subset of 41 genes: ENG , STXBP1 NC_000009.11:g.(?_130216797)_(130953151_?)dupduplication Uncertain significance 663424 9:130216797-130953151 9:127454518-128190872
13 DPM2 NM_003863.3(DPM2):c.64A>G (p.Thr22Ala)SNV Likely benign 392159 rs7042788 9:130699742-130699742 9:127937463-127937463
14 DPM2 NM_003863.3(DPM2):c.183G>A (p.Leu61=)SNV Benign/Likely benign 128919 rs11552794 9:130698845-130698845 9:127936566-127936566
15 DPM2 NM_003863.3(DPM2):c.213T>C (p.Tyr71=)SNV Benign 128920 rs6781 9:130698043-130698043 9:127935764-127935764
16 DPM2 NM_003863.3(DPM2):c.227C>G (p.Thr76Ser)SNV Benign 128921 rs7997 9:130698029-130698029 9:127935750-127935750

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

73
# Symbol AA change Variation ID SNP ID
1 DPM2 p.Tyr23Cys VAR_069745 rs397514503

Expression for Congenital Disorder of Glycosylation, Type Iu

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

Pathways for Congenital Disorder of Glycosylation, Type Iu

GO Terms for Congenital Disorder of Glycosylation, Type Iu

Sources for Congenital Disorder of Glycosylation, Type Iu

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63 QIAGEN
68 SNOMED-CT via HPO
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