MCID: PMM002
MIFTS: 8

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 25
Carbohydrate-Deficient Glycoprotein Syndrome Type Ia 25
Congenital Disorder of Glycosylation Type Ia 25
Congenital Disorder of Glycosylation Type 1a 69
Phosphomannomutase 2 Deficiency 25
Phosphomannomutase 2 13
Jaeken Syndrome 25
Pmm Deficiency 25
Cdg Ia 25
Cdgs1a 25
Cdg1a 25

Summaries for Pmm2-Congenital Disorder of Glycosylation

Genetics Home Reference : 25 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 has symptoms including ataxia, diarrhea and seizures.

Related Diseases for Pmm2-Congenital Disorder of Glycosylation

Diseases related to Pmm2-Congenital Disorder of Glycosylation via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type ia 11.4

Symptoms & Phenotypes for Pmm2-Congenital Disorder of Glycosylation

UMLS symptoms related to Pmm2-Congenital Disorder of Glycosylation:


ataxia, diarrhea, seizures, vomiting, weakness

Drugs & Therapeutics for Pmm2-Congenital Disorder of Glycosylation

Search Clinical Trials , 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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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