MCID: CNG386
MIFTS: 24

Congenital Disorder of Glycosylation, Type Iu

Categories: Genetic diseases, Neuronal diseases, Liver diseases, Metabolic diseases, Rare diseases, Muscle diseases, Skin diseases, Cardiovascular diseases, Fetal diseases, Mental diseases, Blood diseases, Gastrointestinal diseases, Nephrological diseases, Ear diseases, Bone diseases, Endocrine 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 73
Cdg1u 57 59 75
Congenital Disorder of Glycosylation Type Iu 59 75
Cdg Iu 57 75
Cdg-Iu 59 75
Cdgiu 57 75
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 Type 1u 59
Congenital Disorder of Glycosylation 1u 75
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:
Mortality/Aging death in infancy
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Congenital Disorder of Glycosylation, Type Iu

UniProtKB/Swiss-Prot : 75 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 cdg1u, is related to 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 high palate and seizures

Description from OMIM: 615042

Related Diseases for Congenital Disorder of Glycosylation, Type Iu

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

# Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, early infantile, 36 11.5

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Iu

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 Nose:
small nose

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 Mouth:
high-arched palate
thin upper lip

Abdomen Gastrointestinal:
poor feeding

Skeletal:
congenital contractures

Respiratory:
respiratory distress at birth


Clinical features from OMIM:

615042

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

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 high palate 32 HP:0000218
2 seizures 32 HP:0001250
3 scoliosis 32 HP:0002650
4 global developmental delay 32 HP:0001263
5 short nose 32 HP:0003196
6 optic atrophy 32 frequent (33%) HP:0000648
7 elevated serum creatine phosphokinase 32 HP:0003236
8 micrognathia 32 HP:0000347
9 feeding difficulties 32 HP:0011968
10 strabismus 32 HP:0000486
11 cerebellar hypoplasia 32 HP:0001321
12 thin upper lip vermilion 32 HP:0000219
13 hypotelorism 32 HP:0000601
14 myopathic facies 32 HP:0002058
15 postnatal microcephaly 32 HP:0005484
16 congenital contracture 32 HP:0002803
17 severe muscular hypotonia 32 HP:0006829
18 primitive reflex 32 HP:0002476

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

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

Variations for Congenital Disorder of Glycosylation, Type Iu

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

75
# Symbol AA change Variation ID SNP ID
1 DPM2 p.Tyr23Cys VAR_069745 rs397514503

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

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 DPM2 NM_003863.3(DPM2): c.68A> G (p.Tyr23Cys) single nucleotide variant Pathogenic rs397514503 GRCh37 Chromosome 9, 130699738: 130699738
2 DPM2 NM_003863.3(DPM2): c.68A> G (p.Tyr23Cys) single nucleotide variant Pathogenic rs397514503 GRCh38 Chromosome 9, 127937459: 127937459
3 DPM2 NM_003863.3(DPM2): c.4_93del90 single nucleotide variant Pathogenic rs797044467 GRCh38 Chromosome 9, 127937524: 127937524
4 DPM2 NM_003863.3(DPM2): c.4_93del90 single nucleotide variant Pathogenic rs797044467 GRCh37 Chromosome 9, 130699803: 130699803
5 DPM2 NM_003863.3(DPM2): c.64A> G (p.Thr22Ala) single nucleotide variant Likely benign rs7042788 GRCh38 Chromosome 9, 127937463: 127937463
6 DPM2 NM_003863.3(DPM2): c.64A> G (p.Thr22Ala) single nucleotide variant Likely benign rs7042788 GRCh37 Chromosome 9, 130699742: 130699742
7 DPM2 NM_003863.3(DPM2): c.208T> G (p.Ser70Ala) single nucleotide variant Uncertain significance rs759597928 GRCh38 Chromosome 9, 127935769: 127935769
8 DPM2 NM_003863.3(DPM2): c.208T> G (p.Ser70Ala) single nucleotide variant Uncertain significance rs759597928 GRCh37 Chromosome 9, 130698048: 130698048
9 DPM2 NM_003863.3(DPM2): c.145T> A (p.Tyr49Asn) single nucleotide variant Uncertain significance rs755055369 GRCh38 Chromosome 9, 127936604: 127936604
10 DPM2 NM_003863.3(DPM2): c.145T> A (p.Tyr49Asn) single nucleotide variant Uncertain significance rs755055369 GRCh37 Chromosome 9, 130698883: 130698883
11 DPM2 NM_003863.3(DPM2): c.154G> A (p.Ala52Thr) single nucleotide variant Uncertain significance rs147263320 GRCh38 Chromosome 9, 127936595: 127936595
12 DPM2 NM_003863.3(DPM2): c.154G> A (p.Ala52Thr) single nucleotide variant Uncertain significance rs147263320 GRCh37 Chromosome 9, 130698874: 130698874

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

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
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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
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