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 53
Congenital Muscular Dystrophy with Intellectual Disability and Severe Epilepsy 53
Carbohydrate Deficient Glycoprotein Syndrome Type Iu 53
Cmd with Intellectual Disability and Severe Epilepsy 53
Congenital Disorder of Glycosylation, Type Iu 53
Congenital Disorder of Glycosylation Type 1u 53
Congenital Disorder of Glycosylation Type Iu 53
Cdg Syndrome Type Iu 53
Cdg-Iu 53
Cdg1u 53

Classifications:



Summaries for Dpm2-Cdg

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 329178DefinitionCongenital 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 muscular dystrophy with intellectual disability and severe epilepsy, is related to congenital disorder of glycosylation, type iu and epileptic encephalopathy, early infantile, 36. An important gene associated with Dpm2-Cdg is DPM2 (Dolichyl-Phosphate Mannosyltransferase Subunit 2, Regulatory).

Related Diseases for Dpm2-Cdg

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

Anatomical Context for Dpm2-Cdg

Publications for Dpm2-Cdg

Articles related to Dpm2-Cdg:

# Title Authors PMID Year
1
Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs). 38
26453362 2016
2
Congenital disorders of glycosylation with emphasis on cerebellar involvement. 38
25192513 2014
3
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. 38
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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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