CDGIT
MCID: CNG379
MIFTS: 19

Congenital Disorder of Glycosylation, Type It (CDGIT) malady

Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases, Neuronal diseases, Cardiovascular diseases, Skin diseases, Fetal diseases, Ear diseases, Gastrointestinal diseases, Nephrological diseases, Blood diseases, Bone diseases, Eye diseases, Muscle diseases categories
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Summaries for Congenital Disorder of Glycosylation, Type It

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MalaCards based summary: Congenital Disorder of Glycosylation, Type It, is also known as CDGIT and has symptoms including An important gene associated with Congenital Disorder of Glycosylation, Type It is PGM1 (phosphoglucomutase 1). Affiliated tissues include liver.

Description from OMIM:46 614921

Aliases & Classifications for Congenital Disorder of Glycosylation, Type It

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Sources:
46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
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Congenital Disorder of Glycosylation, Type It, Aliases & Descriptions:

Name: Congenital Disorder of Glycosylation, Type It 46
Cdgit 48 62
 
Pgm-Cdg 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
cdgit:
Inheritance: Autosomal recessive


External Ids:

OMIM46 614921
ICD10 via Orphanet26 E77.8

Related Diseases for Congenital Disorder of Glycosylation, Type It

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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

Symptoms for Congenital Disorder of Glycosylation, Type It

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Symptoms by clinical synopsis from OMIM:

614921

Clinical features from OMIM:

614921

HPO human phenotypes related to Congenital Disorder of Glycosylation, Type It:

(show all 22)
id Description Frequency HPO Source Accession
1 cleft palate rare (5%) HP:0000175
2 pierre-robin sequence rare (5%) HP:0000201
3 micrognathia rare (5%) HP:0000347
4 reduced antithrombin iii activity rare (5%) HP:0001976
5 dyspnea rare (5%) HP:0002094
6 rhabdomyolysis rare (5%) HP:0003201
7 elevated serum creatine phosphokinase rare (5%) HP:0003236
8 cerebral venous thrombosis rare (5%) HP:0005305
9 fatigue rare (5%) HP:0012378
10 autosomal recessive inheritance HP:0000007
11 bifid uvula HP:0000193
12 delayed puberty HP:0000823
13 muscle weakness HP:0001324
14 hepatic steatosis HP:0001397
15 dilated cardiomyopathy HP:0001644
16 tachycardia HP:0001649
17 hypoglycemia HP:0001943
18 elevated hepatic transaminases HP:0002910
19 exercise intolerance HP:0003546
20 type i transferrin isoform profile HP:0003642
21 short stature HP:0004322
22 hepatitis HP:0012115

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type It

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Drug clinical trials:

Search ClinicalTrials for Congenital Disorder of Glycosylation, Type It

Search NIH Clinical Center for Congenital Disorder of Glycosylation, Type It

Genetic Tests for Congenital Disorder of Glycosylation, Type It

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Anatomical Context for Congenital Disorder of Glycosylation, Type It

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MalaCards organs/tissues related to Congenital Disorder of Glycosylation, Type It:

32
Liver

Animal Models for Congenital Disorder of Glycosylation, Type It or affiliated genes

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Publications for Congenital Disorder of Glycosylation, Type It

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Variations for Congenital Disorder of Glycosylation, Type It

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UniProtKB/Swiss-Prot genetic disease variations for Congenital Disorder of Glycosylation, Type It:

64 (show all 13)
id Symbol AA change Variation ID SNP ID
1PGM1p.Thr115AlaVAR_062280
2PGM1p.Gly121ArgVAR_069219
3PGM1p.Thr19AlaVAR_071635
4PGM1p.Asn38TyrVAR_071636
5PGM1p.Gln41ArgVAR_071637
6PGM1p.Asp62HisVAR_071638
7PGM1p.Asp263GlyVAR_071639
8PGM1p.Asp263TyrVAR_071640
9PGM1p.Gly291ArgVAR_071641
10PGM1p.Gly330ArgVAR_071642
11PGM1p.Glu377LysVAR_071643
12PGM1p.Glu388LysVAR_071644
13PGM1p.Leu516ProVAR_071645

Clinvar genetic disease variations for Congenital Disorder of Glycosylation, Type It:

6
id Gene Name Type Significance SNP ID Assembly Location
1PGM1NM_002633.2(PGM1): c.1547T> C (p.Leu516Pro)single nucleotide variantPathogenicGRCh37Chr 1, 64120085: 64120085
2PGM1NM_002633.2(PGM1): c.112A> T (p.Asn38Tyr)single nucleotide variantPathogenicGRCh37Chr 1, 64059271: 64059271
3PGM1NM_002633.2(PGM1): c.184G> C (p.Asp62His)single nucleotide variantPathogenicGRCh37Chr 1, 64059343: 64059343
4PGM1NM_002633.2(PGM1): c.787G> T (p.Asp263Tyr)single nucleotide variantPathogenicGRCh37Chr 1, 64100604: 64100604
5PGM1NM_002633.2(PGM1): c.661delC (p.Arg221Valfs)deletionPathogenicGRCh37Chr 1, 64097432: 64097432
6PGM1NM_002633.2(PGM1): c.343A> G (p.Thr115Ala)single nucleotide variantPathogenicrs121918371GRCh37Chr 1, 64095192: 64095192
7PGM1NM_002633.2(PGM1): c.1145-1G> Csingle nucleotide variantPathogenicGRCh37Chr 1, 64114187: 64114187
8PGM1NM_002633.2(PGM1): c.361G> C (p.Gly121Arg)single nucleotide variantPathogenicrs398122912GRCh37Chr 1, 64095210: 64095210
9PGM1NM_002633.2(PGM1): c.1507C> T (p.Arg503Ter)single nucleotide variantPathogenicrs397515423GRCh37Chr 1, 64120045: 64120045

Expression for genes affiliated with Congenital Disorder of Glycosylation, Type It

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Expression patterns in normal tissues for genes affiliated with Congenital Disorder of Glycosylation, Type It

Search GEO for disease gene expression data for Congenital Disorder of Glycosylation, Type It.

Pathways for genes affiliated with Congenital Disorder of Glycosylation, Type It

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Compounds for genes affiliated with Congenital Disorder of Glycosylation, Type It

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GO Terms for genes affiliated with Congenital Disorder of Glycosylation, Type It

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Products for genes affiliated with Congenital Disorder of Glycosylation, Type It

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  • Antibodies
  • Proteins
  • Lysates

Sources for Congenital Disorder of Glycosylation, Type It

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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