MCID: PMM002
MIFTS: 16

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 73
Phosphomannomutase 2 Deficiency 25
Jaeken Syndrome 25
Pmm Deficiency 25
Cdg Ia 25
Cdgs1a 25
Cdg1a 25

External Ids:

UMLS 73 C0349653

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 congenital disorder of glycosylation, type in, 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:

(show all 25)
# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type ia 11.7
2 congenital disorder of glycosylation, type in 11.1
3 congenital disorder of glycosylation, type iik 10.8
4 congenital disorder of glycosylation, type iia 10.8
5 congenital disorder of glycosylation, type it 10.8
6 congenital disorder of glycosylation, type iic 10.8
7 congenital disorder of deglycosylation 10.8
8 epileptic encephalopathy, early infantile, 36 10.8
9 congenital disorder of glycosylation, type iio 10.8
10 congenital disorder of glycosylation, type iim 10.8
11 congenital disorder of glycosylation, type iip 10.8
12 congenital disorder of glycosylation, type id 10.8
13 congenital disorder of glycosylation with defective fucosylation 10.8
14 congenital disorder of glycosylation, type ib 10.8
15 congenital disorder of glycosylation, type ic 10.8
16 congenital disorder of glycosylation, type iid 10.8
17 congenital disorder of glycosylation, type ig 10.8
18 congenital disorder of glycosylation, type ij 10.8
19 congenital disorder of glycosylation, type ih 10.8
20 congenital disorder of glycosylation, type ik 10.8
21 congenital disorder of glycosylation, type il 10.8
22 congenital disorder of glycosylation, type iil 10.8
23 cerebral hemorrhage 9.9
24 cerebritis 9.9
25 congenital disorders of n-linked glycosylation and multiple pathway 9.9

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:


ataxia, diarrhea, seizures, vomiting, weakness

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
2
Carbohydrate deficient glycoprotein syndrome type Ia. ( 15361947 )
2004
3
Denaturing high-performance liquid chromatography is a suitable method for PMM2 mutation screening in carbohydrate-deficient glycoprotein syndrome type IA patients. ( 11142762 )
2000
4
Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate- deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping. ( 10571956 )
1999
5
Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2. ( 10386614 )
1999

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
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
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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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