MCID: PMM002
MIFTS: 14

Pmm2-Congenital Disorder of Glycosylation

Aliases & Classifications for Pmm2-Congenital Disorder of Glycosylation

MalaCards integrated aliases for Pmm2-Congenital Disorder of Glycosylation:

Name: Pmm2-Congenital Disorder of Glycosylation 24
Carbohydrate-Deficient Glycoprotein Syndrome Type Ia 24
Congenital Disorder of Glycosylation Type Ia 24
Congenital Disorder of Glycosylation Type 1a 69
Phosphomannomutase 2 Deficiency 24
Jaeken Syndrome 24
Pmm Deficiency 24
Cdg Ia 24
Cdgs1a 24
Cdg1a 24

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UMLS 69 C0349653

Summaries for Pmm2-Congenital Disorder of Glycosylation

Genetics Home Reference : 24 PMM2-congenital disorder of glycosylation (PMM2-CDG, also known as congenital disorder of glycosylation type Ia) is an inherited condition that affects many parts of the body. The type and severity of problems associated with PMM2-CDG vary widely among affected individuals, sometimes even among members of the same family.

MalaCards based summary : Pmm2-Congenital Disorder of Glycosylation, also known as carbohydrate-deficient glycoprotein syndrome type ia, is related to congenital disorder of glycosylation, type ia and congenital disorder of glycosylation, type in, and has symptoms including weakness, vomiting and seizures.

Related Diseases for Pmm2-Congenital Disorder of Glycosylation

Graphical network of the top 20 diseases related to Pmm2-Congenital Disorder of Glycosylation:



Diseases related to Pmm2-Congenital Disorder of Glycosylation

Symptoms & Phenotypes for Pmm2-Congenital Disorder of Glycosylation

UMLS symptoms related to Pmm2-Congenital Disorder of Glycosylation:


weakness, vomiting, seizures, diarrhea, ataxia

Drugs & Therapeutics for Pmm2-Congenital Disorder of Glycosylation

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Natural History Study Protocol in PMM2-CDG (CDG-Ia) Recruiting NCT03173300

Search NIH Clinical Center for Pmm2-Congenital Disorder of Glycosylation

Genetic Tests for Pmm2-Congenital Disorder of Glycosylation

Anatomical Context for Pmm2-Congenital Disorder of Glycosylation

Publications for Pmm2-Congenital Disorder of Glycosylation

Articles related to Pmm2-Congenital Disorder of Glycosylation:

# Title Authors Year
1
29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype. ( 25497157 )
2014

Variations for Pmm2-Congenital Disorder of Glycosylation

Expression for Pmm2-Congenital Disorder of Glycosylation

Search GEO for disease gene expression data for Pmm2-Congenital Disorder of Glycosylation.

Pathways for Pmm2-Congenital Disorder of Glycosylation

GO Terms for Pmm2-Congenital Disorder of Glycosylation

Sources for Pmm2-Congenital Disorder of Glycosylation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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