MCID: DPM009
MIFTS: 12

Dpm2-Cdg

Categories: Eye diseases, Muscle diseases, Rare diseases

Aliases & Classifications for Dpm2-Cdg

MalaCards integrated aliases for Dpm2-Cdg:

Name: Dpm2-Cdg 54
Congenital Disorder of Glycosylation Type 1u 54 30 6
Congenital Muscular Dystrophy with Intellectual Disability and Severe Epilepsy 54
Carbohydrate Deficient Glycoprotein Syndrome Type Iu 54
Cmd with Intellectual Disability and Severe Epilepsy 54
Congenital Disorder of Glycosylation, Type Iu 54
Congenital Disorder of Glycosylation Type Iu 54
Cdg Syndrome Type Iu 54
Cdg-Iu 54
Cdg1u 54

Classifications:



Summaries for Dpm2-Cdg

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 329178Disease definitionCongenital 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 : Dpm2-Cdg, also known as congenital disorder of glycosylation type 1u, is related to epileptic encephalopathy, early infantile, 36 and congenital disorder of glycosylation, type iu. An important gene associated with Dpm2-Cdg is DPM2 (Dolichyl-Phosphate Mannosyltransferase Subunit 2, Regulatory).

Related Diseases for Dpm2-Cdg

Diseases related to Dpm2-Cdg via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, early infantile, 36 11.4
2 congenital disorder of glycosylation, type iu 11.1
3 muscular dystrophy-dystroglycanopathy 10.1
4 epilepsy 10.1
5 muscular dystrophy 10.1

Graphical network of the top 20 diseases related to Dpm2-Cdg:



Diseases related to Dpm2-Cdg

Symptoms & Phenotypes for Dpm2-Cdg

Drugs & Therapeutics for Dpm2-Cdg

Search Clinical Trials , NIH Clinical Center for Dpm2-Cdg

Genetic Tests for Dpm2-Cdg

Genetic tests related to Dpm2-Cdg:

# Genetic test Affiliating Genes
1 Congenital Disorder of Glycosylation Type 1u 30 DPM2

Anatomical Context for Dpm2-Cdg

Publications for Dpm2-Cdg

Articles related to Dpm2-Cdg:

# Title Authors Year
1
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. ( 23109149 )
2012

Variations for Dpm2-Cdg

Expression for Dpm2-Cdg

Search GEO for disease gene expression data for Dpm2-Cdg.

Pathways for Dpm2-Cdg

GO Terms for Dpm2-Cdg

Sources for Dpm2-Cdg

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....