MCID: CNG224
MIFTS: 42

Congenital Disorder of Glycosylation Type 1a malady

Neuronal diseases, Liver diseases, Skin diseases, Metabolic diseases categories

Summaries for Congenital Disorder of Glycosylation Type 1a

About this section
Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:42 Congenital disorder of glycosylation type ia (cdg-ia) is an inherited condition that affects many parts of the body. the type and severity of problems associated with cdg-ia vary widely among affected individuals, sometimes even among members of the same family. signs and symptoms are typically evident in infancy and can include hypotonia, inverted nipples, an abnormal distribution of fat, strabismus, developmental delay, failure to thrive, seizures, and distinctive facial features. about 20 percent of affected infants do not survive the first year of life due to multiple organ failure. the most severe cases of cdg-ia are characterized by hydrops fetalis. this condition is caused by mutations in the pmm2 gene and is inherited in an autosomal recessive fashion. last updated: 9/21/2011

MalaCards: Congenital Disorder of Glycosylation Type 1a, also known as cdg1a, is related to congenital disorder of glycosylation and thrombocytopenia. An important gene associated with Congenital Disorder of Glycosylation Type 1a is PMM2 (phosphomannomutase 2), and among its related pathways are Amino sugar and nucleotide sugar metabolism and Fructose and mannose metabolism. The compounds mannose 6-phosphate and Alpha-D-Glucose 1,6-Bisphosphate have been mentioned in the context of this disorder. Affiliated tissues include liver, eye and skin.

Genetics Home Reference:21 Congenital disorder of glycosylation type Ia (CDG-Ia), also known as phosphomannomutase 2 deficiency, is an inherited condition that affects many parts of the body. The type and severity of problems associated with CDG-Ia vary widely among affected individuals, sometimes even among members of the same family.

Description from OMIM:46 212065

Aliases & Classifications for Congenital Disorder of Glycosylation Type 1a

About this section
Sources:
42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Neuronal diseases, Liver diseases, Skin diseases


Characteristics (Orphanet epidemiological data):

48
cdg1a:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

congenital disorder of glycosylation type 1a 42 48
cdg1a 42 21 48
congenital disorder of glycosylation type ia 21 48
phosphomannomutase 2 deficiency 21 48
jaeken syndrome 42 21
cdg ia 21 44
carbohydrate-deficient glycoprotein syndrome type ia 21
carbohydrate deficient glycoprotein syndrome type ia 48
carbohydrate-deficient glycoprotein syndrome type 1a 42
carbohydrate-deficient glycoprotein syndrome type i 60
congenital disorder of glycosylation, type ia 46
cdg syndrome type ia 48
pmm deficiency 21
pmm2-cdg 48
cdgs1a 21
cdg-ia 48
cdg 1a 42


External Ids:

OMIM46 212065
ICD10 via Orphanet26 E77.8

Related Diseases for Congenital Disorder of Glycosylation Type 1a

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Congenital Disorder of Glycosylation Type 1b family:

Congenital Disorder of Glycosylation Type Ii Congenital Disorder of Glycosylation Type I
Congenital Disorder of Glycosylation congenital disorder of glycosylation type 1a
Congenital Disorder of Glycosylation Type 1c Congenital Disorder of Glycosylation Type 1e
Congenital Disorder of Glycosylation Type 1f Congenital Disorder of Glycosylation Type 1i
Congenital Disorder of Glycosylation Type 2a Congenital Disorder of Glycosylation Type 1d
Congenital Disorder of Glycosylation Type 1g Congenital Disorder of Glycosylation Type 1h
Congenital Disorder of Glycosylation Type 1j Congenital Disorder of Glycosylation Type 1k
Congenital Disorder of Glycosylation Type 1l Congenital Disorder of Glycosylation Type 2b
Congenital Disorder of Glycosylation Type 2c Congenital Disorder of Glycosylation Type 2d
Congenital Disorder of Glycosylation Type 2e Congenital Disorder of Glycosylation Type 2g
Congenital Disorder of Glycosylation, Type Ir Congenital Disorder of Glycosylation, Type It
Congenital Disorder of Glycosylation, Type Io Congenital Disorder of Glycosylation, Type Iv
Congenital Disorder of Glycosylation, Type Iq Congenital Disorder of Glycosylation, Type Iif
Congenital Disorder of Glycosylation, Type Iii Congenital Disorder of Glycosylation, Type Iu
Congenital Disorder of Glycosylation, Type Im Congenital Disorder of Glycosylation, Type Il
Congenital Disorder of Glycosylation, Type Ij Congenital Disorder of Glycosylation, Type Iw
Congenital Disorder of Glycosylation, Type Ip Congenital Disorder of Glycosylation, Type Ik
Congenital Disorder of Glycosylation, Type Iih

Diseases related to Congenital Disorder of Glycosylation Type 1a via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 31)
idRelated DiseaseScoreTop Affiliating Genes
1congenital disorder of glycosylation31.0PMM1, PMM2
2thrombocytopenia30.4SERPINC1
3alcohol abuse10.3
4olivopontocerebellar atrophy10.3
5dysostosis10.3
6thyroiditis10.3
7cerebral palsy, spastic quadriplegic, 210.3
8cardiac tamponade10.3
9cerebellar ataxia10.3
10congenital heart defect10.3
11hb bart's hydrops fetalis10.3
12hypertrophic cardiomyopathy10.3
13congenital disorder of glycosylation type 1e10.1
14congenital disorder of glycosylation type 1f10.1
15phosphomannoisomerase deficiency10.1
16retinitis10.0
17thrombophilia10.0
18congenital disorder of glycosylation type 1b9.9
19congenital disorder of glycosylation type 1c9.9
20congenital disorder of glycosylation type 2a9.9
21congenital disorder of glycosylation type 1d9.9
22congenital disorder of glycosylation type 1g9.9
23congenital disorder of glycosylation type 1h9.9
24congenital disorder of glycosylation type 2c9.9
25congenital disorder of glycosylation type 2d9.9
26congenital disorder of glycosylation type 2e9.9
27congenital disorder of glycosylation, type iv9.9
28congenital disorder of glycosylation, type iik9.9
29congenital disorder of glycosylation, type il9.9
30congenital disorder of glycosylation, type ij9.9
31congenital disorder of glycosylation, type ik9.9

Graphical network of the top 20 diseases related to Congenital Disorder of Glycosylation Type 1a:



Diseases related to congenital disorder of glycosylation type 1a

Clinical Features for Congenital Disorder of Glycosylation Type 1a

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

212065

Clinical synopsis from OMIM:

212065

Drugs & Therapeutics for Congenital Disorder of Glycosylation Type 1a

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Congenital Disorder of Glycosylation Type 1a

Drug clinical trials:

Search ClinicalTrials for Congenital Disorder of Glycosylation Type 1a

Search NIH Clinical Center for Congenital Disorder of Glycosylation Type 1a

Search CenterWatch for Congenital Disorder of Glycosylation Type 1a

Genetic Tests for Congenital Disorder of Glycosylation Type 1a

About this section

Anatomical Context for Congenital Disorder of Glycosylation Type 1a

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Congenital Disorder of Glycosylation Type 1a:

32
Liver, Eye, Skin

Animal Models for Congenital Disorder of Glycosylation Type 1a or affiliated genes

About this section

Publications for Congenital Disorder of Glycosylation Type 1a

About this section

Genetic Variations for Congenital Disorder of Glycosylation Type 1a

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Congenital Disorder of Glycosylation Type 1a:

62 (show all 67)
id Symbol AA change Variation ID SNP ID
1PMM2p.Val44AlaVAR_006093
2PMM2p.Asp65TyrVAR_006094
3PMM2p.Asn101LysVAR_006095
4PMM2p.Tyr106CysVAR_006096
5PMM2p.Ala108ValVAR_006097
6PMM2p.Pro113LeuVAR_006098
7PMM2p.Gly117ArgVAR_006099
8PMM2p.Phe119LeuVAR_006100
9PMM2p.Arg123GlnVAR_006101
10PMM2p.Val129MetVAR_006102rs28938475
11PMM2p.Pro131AlaVAR_006103
12PMM2p.Ile132ThrVAR_006104
13PMM2p.Arg141HisVAR_006105rs28936415
14PMM2p.Arg162TrpVAR_006106
15PMM2p.Gly175ArgVAR_006107
16PMM2p.Asp188GlyVAR_006108
17PMM2p.Gly208AlaVAR_006109
18PMM2p.Asn216IleVAR_006110rs78290141
19PMM2p.Asp223GluVAR_006111
20PMM2p.Tyr229SerVAR_006112
21PMM2p.Val231MetVAR_006113
22PMM2p.Thr237MetVAR_006115rs80338708
23PMM2p.Arg238ProVAR_006116
24PMM2p.Glu139LysVAR_009232
25PMM2p.Leu104ValVAR_012344
26PMM2p.Cys9TyrVAR_022469
27PMM2p.Phe11CysVAR_022470
28PMM2p.Gly15GluVAR_022471
29PMM2p.Pro20SerVAR_022472
30PMM2p.Leu32ArgVAR_022473
31PMM2p.Gln37HisVAR_022474
32PMM2p.Tyr64CysVAR_022476
33PMM2p.Val67MetVAR_022477
34PMM2p.Pro69SerVAR_022478
35PMM2p.Tyr76CysVAR_022479
36PMM2p.Glu93AlaVAR_022480
37PMM2p.Cys103PheVAR_022481
38PMM2p.Ile120ThrVAR_022482
39PMM2p.Ile132PheVAR_022483
40PMM2p.Ile132AsnVAR_022484
41PMM2p.Arg141CysVAR_022485
42PMM2p.Phe144LeuVAR_022486rs150719105
43PMM2p.Asp148AsnVAR_022487
44PMM2p.Glu151GlyVAR_022488
45PMM2p.Ile153ThrVAR_022489
46PMM2p.Phe157SerVAR_022490rs190521996
47PMM2p.Phe172ValVAR_022491
48PMM2p.Gly176ValVAR_022492
49PMM2p.Gln177HisVAR_022493
50PMM2p.Phe183SerVAR_022494
51PMM2p.Asp185GlyVAR_022495
52PMM2p.Cys192GlyVAR_022496
53PMM2p.His195ArgVAR_022497
54PMM2p.Glu197AlaVAR_022498rs34258285
55PMM2p.Phe206SerVAR_022499
56PMM2p.Gly214SerVAR_022500
57PMM2p.Asn216SerVAR_022501rs78290141
58PMM2p.Asp217GluVAR_022502
59PMM2p.His218LeuVAR_022503
60PMM2p.Asp223AsnVAR_022504
61PMM2p.Thr226SerVAR_022505
62PMM2p.Gly228CysVAR_022506
63PMM2p.Gly228ArgVAR_022507
64PMM2p.Thr237ArgVAR_022508rs80338708
65PMM2p.Arg238GlyVAR_022509
66PMM2p.Cys241SerVAR_022510
67PMM2p.Val44LeuVAR_022563

Expression for genes affiliated with Congenital Disorder of Glycosylation Type 1a

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Congenital Disorder of Glycosylation Type 1a

Search GEO for disease gene expression data for Congenital Disorder of Glycosylation Type 1a.

Pathways for genes affiliated with Congenital Disorder of Glycosylation Type 1a

About this section
Sources:
29KEGG, 53Reactome, 37NCBI BioSystems Database
See all sources

Compounds for genes affiliated with Congenital Disorder of Glycosylation Type 1a

About this section
Sources:
44Novoseek, 24HMDB, 11DrugBank
See all sources

Compounds related to Congenital Disorder of Glycosylation Type 1a according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1mannose 6-phosphate44 2410.3PMM1, PMM2
2Alpha-D-Glucose 1,6-Bisphosphate11 2410.2PMM1, PMM2
3galactose-1-phosphate449.0PMM1, PMM2

GO Terms for genes affiliated with Congenital Disorder of Glycosylation Type 1a

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Congenital Disorder of Glycosylation Type 1a according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1neuronal cell bodyGO:0430259.3PMM1, PMM2

Biological processes related to Congenital Disorder of Glycosylation Type 1a according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mannose biosynthetic processGO:0193079.4PMM1, PMM2
2GDP-mannose biosynthetic processGO:0092989.4PMM1, PMM2
3dolichol-linked oligosaccharide biosynthetic processGO:0064889.3PMM1, PMM2
4cellular protein metabolic processGO:0442679.3PMM1, PMM2
5protein N-linked glycosylation via asparagineGO:0182799.2PMM2, PMM1
6post-translational protein modificationGO:0436879.0PMM1, PMM2

Molecular functions related to Congenital Disorder of Glycosylation Type 1a according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1phosphomannomutase activityGO:0046159.3PMM1, PMM2

Products for genes affiliated with Congenital Disorder of Glycosylation Type 1a

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Congenital Disorder of Glycosylation Type 1a

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet