MCID: CNG224
MIFTS: 44

Congenital Disorder of Glycosylation Type 1a malady

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Summaries for Congenital Disorder of Glycosylation Type 1a

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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 based summary: Congenital Disorder of Glycosylation Type 1a, also known as congenital disorder of glycosylation type ia, is related to congenital disorder of glycosylation and skeletal dysplasias, and has symptoms including 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: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

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Sources:
42NIH Rare Diseases, 48Orphanet, 62UMLS, 21Genetics Home Reference, 44Novoseek, 46OMIM, 26ICD10 via Orphanet
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Congenital Disorder of Glycosylation Type 1a, Aliases & Descriptions:

Name: Congenital Disorder of Glycosylation Type 1a 42 48 62
Congenital Disorder of Glycosylation Type Ia 21 48 62
Phosphomannomutase 2 Deficiency 42 21 48
Cdg Ia 21 44 62
Cdg1a 42 21 48
Carbohydrate-Deficient Glycoprotein Syndrome Type Ia 21 62
Jaeken Syndrome 42 21
Carbohydrate Deficient Glycoprotein Syndrome Type Ia 48
Carbohydrate-Deficient Glycoprotein Syndrome Type 1a 42
 
Carbohydrate-Deficient Glycoprotein Syndrome Type I 62
Congenital Disorder of Glycosylation, Type Ia 46
Cdg Syndrome Type Ia 48
Pmm Deficiency 21
Pmm2-Cdg 48
Cdg-Ia 48
Cdg 1a 42
Cdgs1a 21


Classifications:



Characteristics (Orphanet epidemiological data):

48
congenital disorder of glycosylation type 1a:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


External Ids:

OMIM46 212065
ICD10 via Orphanet26 E77.8

Related Diseases for Congenital Disorder of Glycosylation Type 1a

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Diseases in the Congenital Disorder of Glycosylation Type I family:

Congenital Disorder of Glycosylation Type Ii Congenital Disorder of Glycosylation
congenital disorder of glycosylation type 1a Congenital Disorder of Glycosylation Type 1b
Congenital Disorder of Glycosylation Type 1c Congenital Disorder of Glycosylation Type 1d
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 2g
Congenital Disorder of Glycosylation Type Iii 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 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 32)
idRelated DiseaseScoreTop Affiliating Genes
1congenital disorder of glycosylation30.9PMM1, PMM2
2skeletal dysplasias10.5
3cerebellar hypoplasia10.4
4cerebellar ataxia10.4
5cardiac rupture10.4
6hydrops fetalis10.4
7ataxia10.4
8hb bart's hydrops fetalis10.4
9thrombocytopenia10.4
10hypertrophic cardiomyopathy10.4
11congenital disorder of glycosylation type i10.2
12congenital disorder of glycosylation type 1f10.2
13phosphomannoisomerase deficiency10.2
14retinitis10.0
15thrombophilia10.0
16cerebral hemorrhage10.0
17congenital disorder of glycosylation type ii10.0
18cerebritis10.0
19congenital disorder of glycosylation type 1b10.0
20congenital disorder of glycosylation type 1c10.0
21congenital disorder of glycosylation type 1d10.0
22congenital disorder of glycosylation type 1g10.0
23congenital disorder of glycosylation type 1h10.0
24congenital disorder of glycosylation type 2a10.0
25congenital disorder of glycosylation type 2c10.0
26congenital disorder of glycosylation type 2d10.0
27congenital disorder of glycosylation, type it10.0
28congenital disorder of glycosylation, type iv10.0
29congenital disorder of glycosylation, type iik10.0
30congenital disorder of glycosylation, type il10.0
31congenital disorder of glycosylation, type ij10.0
32congenital 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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Symptoms by clinical synopsis from OMIM:

212065

Clinical features from OMIM:

212065

HPO human phenotypes related to Congenital Disorder of Glycosylation Type 1a:

(show all 53)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 proteinuria HP:0000093
3 nephrotic syndrome HP:0000100
4 renal cyst HP:0000107
5 proximal tubulopathy HP:0000114
6 thin upper lip vermilion HP:0000219
7 microcephaly HP:0000252
8 macrotia HP:0000400
9 retinitis pigmentosa HP:0000510
10 esotropia HP:0000565
11 nystagmus HP:0000639
12 hypergonadotropic hypogonadism HP:0000815
13 hypothyroidism HP:0000821
14 osteopenia HP:0000938
15 seizures HP:0001250
16 ataxia HP:0001251
17 muscular hypotonia HP:0001252
18 global developmental delay HP:0001263
19 hyporeflexia HP:0001265
20 polyneuropathy HP:0001271
21 muscle weakness HP:0001324
22 muscle weakness HP:0001324
23 flexion contracture HP:0001371
24 hepatic fibrosis HP:0001395
25 hepatic steatosis HP:0001397
26 failure to thrive HP:0001508
27 abnormality of the amniotic fluid HP:0001560
28 primary ovarian failure HP:0001587
29 cardiomyopathy HP:0001638
30 pericardial effusion HP:0001698
31 nonimmune hydrops fetalis HP:0001790
32 thrombocytosis HP:0001894
33 reduced factor xi activity HP:0001929
34 reduced antithrombin iii activity HP:0001976
35 vomiting HP:0002013
36 diarrhea HP:0002014
37 hepatomegaly HP:0002240
38 stroke-like episodes HP:0002401
39 iga deficiency HP:0002720
40 kyphosis HP:0002808
41 elevated hepatic transaminases HP:0002910
42 hypoalbuminemia HP:0003073
43 hypocholesterolemia HP:0003146
44 inverted nipples HP:0003186
45 type i transferrin isoform profile HP:0003642
46 prolonged partial thromboplastin time HP:0003645
47 igg deficiency HP:0004315
48 depressed nasal bridge HP:0005280
49 olivopontocerebellar hypoplasia HP:0006955
50 abnormal subcutaneous fat tissue distribution HP:0007552
51 prolonged prothrombin time HP:0008151
52 feeding difficulties in infancy HP:0008872
53 prominent forehead HP:0011220

Drugs & Therapeutics for Congenital Disorder of Glycosylation Type 1a

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Drug clinical trials:

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

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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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

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Publications for Congenital Disorder of Glycosylation Type 1a

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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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UniProtKB/Swiss-Prot genetic disease variations for Congenital Disorder of Glycosylation Type 1a:

64 (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:

6 (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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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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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 biosynthesis37
N-acetylglucosamine degradation I37
CMP-N-acetylneuraminate biosynthesis I (eukaryotes)37
UDP-D-xylose and UDP-D-glucuronate biosynthesis37
N-acetylglucosamine degradation II37
UDP-N-acetyl-D-glucosamine biosynthesis II37
UDP-N-acetyl-D-galactosamine biosynthesis II37
GDP-L-fucose biosynthesis I (from GDP-D-mannose)37
9.3PMM1, PMM2
3
Show member pathways
Polyol pathway37
GDP-L-fucose biosynthesis II (from L-fucose)37
sorbitol degradation I37
9.3PMM1, PMM2

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

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

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

idCompoundScoreTop Affiliating Genes
1D-Mannose 1-phosphate249.3PMM1, PMM2
2mannose 6-phosphate44 2410.3PMM1, PMM2
3Alpha-D-Glucose 1,6-bisphosphate24 1110.2PMM1, PMM2
4galactose-1-phosphate449.0PMM1, PMM2

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

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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

Sources for Congenital Disorder of Glycosylation Type 1a

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet