CDG-X
MCID: CNG507
MIFTS: 22

Congenital Disorder of Glycosylation, Type I/iix (CDG-X)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases, Smell/Taste diseases

Aliases & Classifications for Congenital Disorder of Glycosylation, Type I/iix

MalaCards integrated aliases for Congenital Disorder of Glycosylation, Type I/iix:

Name: Congenital Disorder of Glycosylation, Type I/iix 56
Congenital Disorder of Glycosylation, Type I-Iix 71
Congenital Disorder of Glycosylation Type I/iix 52
Cdg-X 56
Cdg X 52

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
congenital disorder of glycosylation, type i/iix:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 212067
MedGen 41 C0349655
UMLS 71 C0349655

Summaries for Congenital Disorder of Glycosylation, Type I/iix

OMIM : 56 Congenital disorders of glycosylation (CDGs) are divided into 2 main groups: type I CDGs (see, e.g., 212065) comprise defects in the assembly of the dolichol lipid-linked oligosaccharide (LLO) chain and its transfer to the nascent protein, whereas type II CDGs (see, e.g., 212066) refer to defects in the trimming and processing of the protein-bound glycans either late in the endoplasmic reticulum or the Golgi compartments. Conventionally, untyped and unclassified cases are labeled 'CDG-x' (Orlean, 2000; Marquardt and Denecke, 2003). The phenotypes described in this entry most likely do not represent a single disorder, but have been referred by the authors as CDG-x and are included here pending further molecular characterization. In a review of CDGs, Marquardt and Denecke (2003) stated that more than 20% of CDG patients identified still cannot be ascribed to a known enzyme defect and are thus named CDG-x. (212067)

MalaCards based summary : Congenital Disorder of Glycosylation, Type I/iix, also known as congenital disorder of glycosylation, type i-iix, is related to congenital disorder of glycosylation, type iii and cog5-congenital disorder of glycosylation. Affiliated tissues include skin and liver, and related phenotypes are seizures and abnormality of metabolism/homeostasis

Related Diseases for Congenital Disorder of Glycosylation, Type I/iix

Diseases in the Disorder of Multiple Glycosylation family:

Congenital Disorder of Glycosylation, Type Ia Congenital Disorder of Glycosylation, Type Iia
Congenital Disorder of Glycosylation, Type I/iix Congenital Disorder of Glycosylation, Type Iic
Congenital Disorder of Glycosylation, Type Iim Congenital Disorder of Glycosylation, Type Iy
Congenital Disorder of Glycosylation, Type Id Congenital Disorder of Glycosylation, Type Ib
Congenital Disorder of Glycosylation, Type Ic Congenital Disorder of Glycosylation, Type Iif
Congenital Disorder of Glycosylation, Type Iib Congenital Disorder of Glycosylation, Type Iid
Congenital Disorder of Glycosylation, Type Ig Congenital Disorder of Glycosylation, Type Ii
Congenital Disorder of Glycosylation, Type Ij Congenital Disorder of Glycosylation, Type Ih
Congenital Disorder of Glycosylation, Type Ik Congenital Disorder of Glycosylation, Type Il
Congenital Disorder of Glycosylation, Type Ie Congenital Disorder of Glycosylation, Type if
Congenital Disorder of Glycosylation, Type Im Congenital Disorder of Glycosylation, Type Iih
Congenital Disorder of Glycosylation, Type Iig Congenital Disorder of Glycosylation, Type in
Congenital Disorder of Glycosylation, Type Iq Congenital Disorder of Glycosylation, Type Iij
Congenital Disorder of Glycosylation, Type Iii Congenital Disorder of Glycosylation, Type Ip
Congenital Disorder of Glycosylation, Type Ir Congenital Disorder of Glycosylation, Type Iil
Congenital Disorder of Glycosylation, Type Iik Congenital Disorder of Glycosylation, Type It
Congenital Disorder of Glycosylation, Type Iu Congenital Disorder of Glycosylation, Type Iw
Congenital Disorder of Glycosylation, Type Ix Congenital Disorder of Glycosylation, Type Iin
Congenital Disorder of Glycosylation, Type Iio Congenital Disorder of Glycosylation, Type Iip
Congenital Disorder of Glycosylation, Type Iiq

Diseases related to Congenital Disorder of Glycosylation, Type I/iix via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type iii 11.7
2 cog5-congenital disorder of glycosylation 11.7
3 strabismus 10.1
4 cerebellar hypoplasia 10.1
5 3-methylglutaconic aciduria, type iii 10.1
6 congenital disorder of glycosylation, type in 10.1
7 diarrhea 10.1
8 mechanical strabismus 10.1
9 pathologic nystagmus 10.1
10 microcephaly 10.1
11 hypotonia 10.1

Graphical network of the top 20 diseases related to Congenital Disorder of Glycosylation, Type I/iix:



Diseases related to Congenital Disorder of Glycosylation, Type I/iix

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type I/iix

Human phenotypes related to Congenital Disorder of Glycosylation, Type I/iix:

31
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 abnormality of metabolism/homeostasis 31 HP:0001939
3 abnormality of skin pigmentation 31 HP:0001000
4 infantile spasms 31 HP:0012469

Symptoms via clinical synopsis from OMIM:

56
Neuro:
infantile spasms

Lab:
carbohydrate moiety deficiency of secretory glycoproteins, lysosomal enzymes, and probably membrane glycoproteins

Skin:
pigmentary skin changes

Clinical features from OMIM:

212067

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type I/iix

Search Clinical Trials , NIH Clinical Center for Congenital Disorder of Glycosylation, Type I/iix

Genetic Tests for Congenital Disorder of Glycosylation, Type I/iix

Anatomical Context for Congenital Disorder of Glycosylation, Type I/iix

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

40
Skin, Liver

Publications for Congenital Disorder of Glycosylation, Type I/iix

Articles related to Congenital Disorder of Glycosylation, Type I/iix:

(show all 18)
# Title Authors PMID Year
1
A new case of CDG-x with stereotyped dystonic hand movements and optic atrophy. 56 61
12118527 2002
2
A previously undescribed form of congenital disorder of glycosylation with variable presentation in siblings: early fetal loss with hydrops fetalis, and infant death with hypoproteinemia. 56
17663480 2007
3
Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies. 56
12756558 2003
4
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases. 56
11134235 2001
5
Budd-Chiari syndrome associated with coagulation abnormalities in a child with carbohydrate deficient glycoprotein syndrome type Ix. 56
10802506 2000
6
Congenital disorders of glycosylation caused by defects in mannose addition during N-linked oligosaccharide assembly. 56
10642590 2000
7
Carbohydrate-deficient glycoprotein syndrome type 1 with profound thrombocytopenia and normal phosphomannomutase and phosphomannose isomerase activities. 56
9821433 1998
8
Carbohydrate-deficient glycoprotein (CDG) syndrome--a new variant, type III. 56
8474612 1993
9
Congenital disorders of glycosylation with emphasis on cerebellar involvement. 61
25192513 2014
10
Congenital disorders of glycosylation. 61
21175687 2010
11
Congenital disorders of glycosylation: a rapidly expanding disease family. 61
17506657 2007
12
Cryptogenic liver disease in four children: a novel congenital disorder of glycosylation. 61
16439595 2006
13
Clinical and biochemical presentation of siblings with COG-7 deficiency, a lethal multiple O- and N-glycosylation disorder. 61
16151902 2005
14
Western blotting with diaminobenzidine detection for the diagnosis of congenital disorders of glycosylation. 61
12763243 2003
15
Komrower Lecture. Congenital disorders of glycosylation (CDG): it's all in it! 61
12889654 2003
16
A new subtype of a congenital disorder of glycosylation (CDG) with mild clinical manifestations. 61
11870587 2001
17
Neonatal severe intractable diarrhoea as the presenting manifestation of an unclassified congenital disorder of glycosylation (CDG-x). 61
11668168 2001
18
Congenital disorders of glycosylation. 61
11701646 2001

Variations for Congenital Disorder of Glycosylation, Type I/iix

Expression for Congenital Disorder of Glycosylation, Type I/iix

Search GEO for disease gene expression data for Congenital Disorder of Glycosylation, Type I/iix.

Pathways for Congenital Disorder of Glycosylation, Type I/iix

GO Terms for Congenital Disorder of Glycosylation, Type I/iix

Sources for Congenital Disorder of Glycosylation, Type I/iix

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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