MCID: CNG224
MIFTS: 43

Congenital Disorder of Glycosylation Type 1a malady

Genetic diseases, Rare diseases, Neuronal diseases, Liver diseases, Skin diseases, Ear diseases, Fetal diseases, Cardiovascular diseases, Gastrointestinal diseases, Nephrological diseases, Blood diseases, Bone diseases, Eye diseases, Muscle diseases categories

Summaries for Congenital Disorder of Glycosylation Type 1a

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22Genetics Home Reference, 44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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 phosphomannomutase 2 deficiency, is related to congenital disorder of glycosylation and skeletal dysplasias. An important gene associated with Congenital Disorder of Glycosylation Type 1a is PMM2 (phosphomannomutase 2), and among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Amino sugar and nucleotide sugar metabolism. The compounds D-Mannose 1-phosphate and mannose 6-phosphate have been mentioned in the context of this disorder. Affiliated tissues include liver, eye and skin.

Genetics Home Reference:22 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:48 212065

Aliases & Classifications for Congenital Disorder of Glycosylation Type 1a

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44NIH Rare Diseases, 50Orphanet, 22Genetics Home Reference, 46Novoseek, 48OMIM, 63UMLS, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
phosphomannomutase 2 deficiency:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

congenital disorder of glycosylation type 1a 44 50
phosphomannomutase 2 deficiency 44 22 50
cdg1a 44 22 50
congenital disorder of glycosylation type ia 22 50
jaeken syndrome 44 22
cdg ia 22 46
carbohydrate-deficient glycoprotein syndrome type ia 22
carbohydrate-deficient glycoprotein syndrome type 1a 44
carbohydrate deficient glycoprotein syndrome type ia 50
carbohydrate-deficient glycoprotein syndrome type i 63
congenital disorder of glycosylation, type ia 48
cdg syndrome type ia 50
pmm deficiency 22
pmm2-cdg 50
cdg-ia 50
cdg 1a 44
cdgs1a 22


External Ids:

OMIM48 212065
ICD10 via Orphanet27 E77.8

Related Diseases for Congenital Disorder of Glycosylation Type 1a

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18GeneCards, 19GeneDecks
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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 1d
Congenital Disorder of Glycosylation Type 1e Congenital Disorder of Glycosylation Type 1f
Congenital Disorder of Glycosylation Type 1g Congenital Disorder of Glycosylation Type 1h
Congenital Disorder of Glycosylation Type 1i Congenital Disorder of Glycosylation Type 1j
Congenital Disorder of Glycosylation Type 1k Congenital Disorder of Glycosylation Type 1l
Congenital Disorder of Glycosylation Type 2a 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 Ix 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 30)
idRelated DiseaseScoreTop Affiliating Genes
1congenital disorder of glycosylation31.0PMM1, PMM2
2skeletal dysplasias10.5
3cerebellar hypoplasia10.4
4cerebellar ataxia10.4
5cardiac rupture10.4
6hydrops fetalis10.4
7ataxia10.4
8hb bart's hydrops fetalis10.4
9hypertrophic cardiomyopathy10.3
10thrombocytopenia10.3
11congenital disorder of glycosylation type 1e10.2
12congenital disorder of glycosylation type 1f10.2
13phosphomannoisomerase deficiency10.2
14retinitis10.0
15thrombophilia10.0
16congenital disorder of glycosylation type 1b10.0
17congenital disorder of glycosylation type 1c10.0
18congenital disorder of glycosylation type 1d10.0
19congenital disorder of glycosylation type 1g10.0
20congenital disorder of glycosylation type 1h10.0
21congenital disorder of glycosylation type 2a10.0
22congenital disorder of glycosylation type 2c10.0
23congenital disorder of glycosylation type 2d10.0
24congenital disorder of glycosylation type 2e10.0
25congenital disorder of glycosylation, type it10.0
26congenital disorder of glycosylation, type iv10.0
27congenital disorder of glycosylation, type iik10.0
28congenital disorder of glycosylation, type il10.0
29congenital disorder of glycosylation, type ij10.0
30congenital disorder of glycosylation, type ik10.0

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



Diseases related to congenital disorder of glycosylation type 1a

Symptoms for Congenital Disorder of Glycosylation Type 1a

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48OMIM
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Symptoms by clinical synopsis from OMIM:

212065

Clinical features from OMIM:

212065

Drugs & Therapeutics for Congenital Disorder of Glycosylation Type 1a

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Congenital Disorder of Glycosylation Type 1a

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Anatomical Context for Congenital Disorder of Glycosylation Type 1a

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34MalaCards
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MalaCards organs/tissues related to Congenital Disorder of Glycosylation Type 1a:

34
Liver, Eye, Skin

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

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Publications for Congenital Disorder of Glycosylation Type 1a

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53PubMed
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Articles related to Congenital Disorder of Glycosylation Type 1a:

idTitleAuthorsYear
1
Prenatal cardiac ultrasound finding in congenital disorder of glycosylation type 1a. (19176971)
2009
2
Congenital disorder of glycosylation type 1a: three siblings with a mild neurological phenotype. (17451957)
2007
3
The X-ray crystal structures of human alpha-phosphomannomutase 1 reveal the structural basis of congenital disorder of glycosylation type 1a. (16540464)
2006
4
Unusual presentation of congenital disorder of glycosylation type 1a: congenital persistent thrombocytopenia, hypertrophic cardiomyopathy and hydrops-like aspect due to marked peripheral oedema. (15645285)
2005
5
Ophthalmic manifestations of congenital disorder of glycosylation type 1a. (12789572)
2003
6
Congenital disorder of glycosylation type 1a in a macrosomic 16-month-old boy with an atypical phenotype and homozygosity of the N216I mutation. (12905014)
2003

Variations for Congenital Disorder of Glycosylation Type 1a

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Congenital Disorder of Glycosylation Type 1a:

65 (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

Clinvar genetic disease variations for Congenital Disorder of Glycosylation Type 1a:

1 (show all 26)
id Gene Name Type Significance SNP ID Assembly Location
1PMM2NM_000303.2(PMM2): c.415G> A (p.Glu139Lys)single nucleotide variantPathogenicrs80338703GRCh37Chr 16, 8905003: 8905003
2PMM2NM_000303.2(PMM2): c.653A> T (p.His218Leu)single nucleotide variantPathogenicrs80338705GRCh37Chr 16, 8941594: 8941594
3PMM2NM_000303.2(PMM2): c.710C> T (p.Thr237Met)single nucleotide variantPathogenicrs80338708GRCh37Chr 16, 8941651: 8941651
4PMM2NM_000303.2(PMM2): c.317A> T (p.Tyr106Phe)single nucleotide variantPathogenicrs387906824GRCh37Chr 16, 8900234: 8900234
5PMM2NM_000303.2(PMM2): c.422G> A (p.Arg141His)single nucleotide variantPathogenicrs28936415GRCh37Chr 16, 8905010: 8905010
6PMM2NM_000303.2(PMM2): c.647A> T (p.Asn216Ile)single nucleotide variantPathogenicrs78290141GRCh37Chr 16, 8941588: 8941588
7PMM2NM_000303.2(PMM2): c.385G> A (p.Val129Met)single nucleotide variantPathogenicrs104894525GRCh37Chr 16, 8904973: 8904973
8PMM2NM_000303.2(PMM2): c.484C> T (p.Arg162Trp)single nucleotide variantPathogenicrs104894526GRCh37Chr 16, 8905531: 8905531
9PMM2NM_000303.2(PMM2): c.193G> T (p.Asp65Tyr)single nucleotide variantPathogenicrs104894527GRCh37Chr 16, 8898638: 8898638
10PMM2NM_000303.2(PMM2): c.357C> A (p.Phe119Leu)single nucleotide variantPathogenicrs80338701GRCh37Chr 16, 8904945: 8904945
11PMM2NM_000303.2(PMM2): c.563A> G (p.Asp188Gly)single nucleotide variantPathogenicrs80338704GRCh37Chr 16, 8906887: 8906887
12PMM2NM_000303.2(PMM2): c.349G> C (p.Gly117Arg)single nucleotide variantPathogenicrs104894530GRCh37Chr 16, 8904937: 8904937
13PMM2NM_000303.2(PMM2): c.669C> G (p.Asp223Glu)single nucleotide variantPathogenicrs104894531GRCh37Chr 16, 8941610: 8941610
14PMM2PMM2, 357C-Asingle nucleotide variantPathogenic
15PMM2NM_000303.2(PMM2): c.710C> G (p.Thr237Arg)single nucleotide variantPathogenicrs80338708GRCh37Chr 16, 8941651: 8941651
16PMM2NM_000303.2(PMM2): c.722G> C (p.Cys241Ser)single nucleotide variantPathogenicrs80338709GRCh37Chr 16, 8941663: 8941663
17PMM2NM_000303.2(PMM2): c.395T> C (p.Ile132Thr)single nucleotide variantPathogenicrs80338702GRCh37Chr 16, 8904983: 8904983
18PMM2NM_000303.2(PMM2): c.691G> A (p.Val231Met)single nucleotide variantPathogenicrs80338707GRCh37Chr 16, 8941632: 8941632
19PMM2NM_000303.2(PMM2): c.26G> A (p.Cys9Tyr)single nucleotide variantPathogenicrs104894532GRCh37Chr 16, 8891765: 8891765
20PMM2NM_000303.2(PMM2): c.95T> G (p.Leu32Arg)single nucleotide variantPathogenicrs104894533GRCh37Chr 16, 8895684: 8895684
21PMM2NM_000303.2(PMM2): c.677C> G (p.Thr226Ser)single nucleotide variantPathogenicrs80338706GRCh37Chr 16, 8941618: 8941618
22PMM2NM_000303.2(PMM2): c.338C> T (p.Pro113Leu)single nucleotide variantPathogenicrs80338700GRCh37Chr 16, 8900255: 8900255
23PMM2PMM2, IVS7, C-Tsingle nucleotide variantPathogenic
24PMM2NM_000303.2(PMM2): c.131T> C (p.Val44Ala)single nucleotide variantPathogenicrs104894534GRCh37Chr 16, 8895720: 8895720
25PMM2PMM2, 28-KB DELdeletionPathogenic
26PMM2PMM2, IVS3AS, G-C, -1single nucleotide variantPathogenic

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

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Congenital Disorder of Glycosylation Type 1a

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

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51PathCards, 56Reactome, 39NCBI BioSystems Database, 31KEGG
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Pathways related to Congenital Disorder of Glycosylation Type 1a according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3PMM1, PMM2
2
Show member pathways
colanic acid building blocks biosynthesis39
N-acetylglucosamine degradation I39
CMP-N-acetylneuraminate biosynthesis I (eukaryotes)39
UDP-D-xylose and UDP-D-glucuronate biosynthesis39
N-acetylglucosamine degradation II39
UDP-N-acetyl-D-glucosamine biosynthesis II39
UDP-N-acetyl-D-galactosamine biosynthesis II39
GDP-L-fucose biosynthesis I (from GDP-D-mannose)39
9.3PMM1, PMM2
3
Show member pathways
Polyol pathway39
GDP-L-fucose biosynthesis II (from L-fucose)39
sorbitol degradation I39
9.3PMM1, PMM2

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

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25HMDB, 46Novoseek, 12DrugBank
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Compounds related to Congenital Disorder of Glycosylation Type 1a according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1D-Mannose 1-phosphate259.3PMM1, PMM2
2mannose 6-phosphate46 2510.3PMM1, PMM2
3Alpha-D-Glucose 1,6-bisphosphate25 1210.2PMM1, PMM2
4galactose-1-phosphate469.0PMM1, PMM2

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

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17Gene Ontology
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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Congenital Disorder of Glycosylation Type 1a

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet