CDG1U
MCID: CNG386
MIFTS: 31

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

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 57 13 72
Congenital Disorder of Glycosylation Type 1u 59 29 6
Cdg1u 57 59 74
Congenital Disorder of Glycosylation Type Iu 59 74
Congenital Disorder of Glycosylation 1u 12 74
Cdg Iu 57 74
Cdg-Iu 59 74
Cdgiu 57 74
Congenital Muscular Dystrophy with Intellectual Disability and Severe Epilepsy 59
Carbohydrate Deficient Glycoprotein Syndrome Type Iu 59
Cmd with Intellectual Disability and Severe Epilepsy 59
Glycosylation, Congenital Disorder of, Type Iu 40
Congenital Disorder of Glycosylation Iu 12
Cdg Syndrome Type Iu 59
Cdg Iu; Cdgiu 57
Dpm2-Cdg 59

Characteristics:

Orphanet epidemiological data:

59
congenital muscular dystrophy with intellectual disability and severe epilepsy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
congenital disorder of glycosylation, type iu:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0080571
MeSH 44 D018981
ICD10 via Orphanet 34 E77.8
Orphanet 59 ORPHA329178
UMLS 72 C3554385

Summaries for Congenital Disorder of Glycosylation, Type Iu

UniProtKB/Swiss-Prot : 74 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.

MalaCards based summary : Congenital Disorder of Glycosylation, Type Iu, also known as congenital disorder of glycosylation type 1u, is related to dpm2-cdg and epileptic encephalopathy, early infantile, 36. 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 optic atrophy and high palate

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.

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 dpm2-cdg 11.7
2 epileptic encephalopathy, early infantile, 36 11.6
3 muscular dystrophy-dystroglycanopathy 10.1
4 epilepsy 10.1
5 muscular dystrophy 10.1
6 microcephaly 10.1
7 congenital disorders of n-linked glycosylation and multiple pathway 10.1
8 congenital muscular dystrophy due to dystroglycanopathy 10.1
9 hypotonia 10.1
10 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:

32 (show all 24)
# Description HPO Frequency HPO Source Accession
1 optic atrophy 32 frequent (33%) HP:0000648
2 high palate 32 HP:0000218
3 seizures 32 HP:0001250
4 scoliosis 32 HP:0002650
5 global developmental delay 32 HP:0001263
6 short nose 32 HP:0003196
7 micrognathia 32 HP:0000347
8 generalized hypotonia 32 HP:0001290
9 feeding difficulties 32 HP:0011968
10 strabismus 32 HP:0000486
11 elevated hepatic transaminase 32 HP:0002910
12 neonatal respiratory distress 32 HP:0002643
13 cerebellar hypoplasia 32 HP:0001321
14 thin upper lip vermilion 32 HP:0000219
15 hypotelorism 32 HP:0000601
16 severe muscular hypotonia 32 HP:0006829
17 hypokinesia 32 HP:0002375
18 myopathic facies 32 HP:0002058
19 postnatal microcephaly 32 HP:0005484
20 congenital contracture 32 HP:0002803
21 abnormal isoelectric focusing of serum transferrin 32 HP:0003160
22 primitive reflex 32 HP:0002476
23 cerebral white matter atrophy 32 HP:0012762
24 elevated serum creatine kinase 32 HP:0003236

Symptoms via clinical synopsis from OMIM:

57
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:

41
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. 38 8 71
23109149 2012
2
Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy. 8 71
19901254 2009
3
Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview 71
20301507 2005
4
Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs). 38
26453362 2016
5
Congenital disorders of glycosylation with emphasis on cerebellar involvement. 38
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 Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 DPM2 NM_003863.3(DPM2): c.68A> G (p.Tyr23Cys) single nucleotide variant Pathogenic rs397514503 9:130699738-130699738 9:127937459-127937459
2 DPM2 NM_003863.3(DPM2): c.4_93del90 single nucleotide variant Pathogenic rs797044467 9:130699803-130699803 9:127937524-127937524
3 DPM2 NM_003863.3(DPM2): c.177C> T (p.Leu59=) single nucleotide variant Conflicting interpretations of pathogenicity rs35334863 9:130698851-130698851 9:127936572-127936572
4 DPM2 NM_003863.3(DPM2): c.16G> A (p.Asp6Asn) single nucleotide variant Uncertain significance 9:130699790-130699790 9:127937511-127937511
5 DPM2 NM_003863.3(DPM2): c.146A> G (p.Tyr49Cys) single nucleotide variant Uncertain significance 9:130698882-130698882 9:127936603-127936603
6 DPM2 NM_003863.3(DPM2): c.37del (p.Leu13fs) deletion Uncertain significance 9:130699768-130699769 9:127937491-127937491
7 DPM2 NM_003863.3(DPM2): c.212_213delinsGC (p.Tyr71Cys) indel Uncertain significance 9:130698043-130698044 9:127935764-127935765
8 DPM2 NM_003863.3(DPM2): c.107G> A (p.Ser36Asn) single nucleotide variant Uncertain significance 9:130698921-130698921 9:127936642-127936642
9 subset of 41 genes:ENG ; STXBP1 NC_000009.11: g.(?_130216797)_(130953151_?)dup duplication Uncertain significance 9:130216797-130953151 9:127454518-128190872
10 DPM2 NM_003863.3(DPM2): c.208T> G (p.Ser70Ala) single nucleotide variant Uncertain significance rs759597928 9:130698048-130698048 9:127935769-127935769
11 DPM2 NM_003863.3(DPM2): c.145T> A (p.Tyr49Asn) single nucleotide variant Uncertain significance rs755055369 9:130698883-130698883 9:127936604-127936604
12 DPM2 NM_003863.3(DPM2): c.154G> A (p.Ala52Thr) single nucleotide variant Uncertain significance rs147263320 9:130698874-130698874 9:127936595-127936595
13 DPM2 NM_003863.3(DPM2): c.64A> G (p.Thr22Ala) single nucleotide variant Likely benign rs7042788 9:130699742-130699742 9:127937463-127937463
14 DPM2 NM_003863.3(DPM2): c.183G> A (p.Leu61=) single nucleotide variant Benign/Likely benign rs11552794 9:130698845-130698845 9:127936566-127936566
15 DPM2 NM_003863.3(DPM2): c.213T> C (p.Tyr71=) single nucleotide variant Benign rs6781 9:130698043-130698043 9:127935764-127935764
16 DPM2 NM_003863.3(DPM2): c.227C> G (p.Thr76Ser) single nucleotide variant Benign rs7997 9:130698029-130698029 9:127935750-127935750

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

74
# 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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73 UMLS via Orphanet
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