MCID: CNG507
MIFTS: 25

Congenital Disorder of Glycosylation, Type I/iix

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

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 58
Congenital Disorder of Glycosylation, Type I-Iix 74
Congenital Disorder of Glycosylation Type I/iix 54
Cdg-X 58
Cdg X 54

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
congenital disorder of glycosylation, type i/iix:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 212067
MedGen 43 C0349655
UMLS 74 C0349655

Summaries for Congenital Disorder of Glycosylation, Type I/iix

OMIM : 58 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, liver and bone, and related phenotypes are seizures and abnormality of metabolism/homeostasis

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

Diseases in the Congenital Disorder of Glycosylation, Type Ii 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 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:

# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type iii 11.6
2 cog5-congenital disorder of glycosylation 11.6
3 3-methylglutaconic aciduria, type iii 10.1
4 congenital disorder of glycosylation, type in 10.1
5 diarrhea 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:

33
# Description HPO Frequency HPO Source Accession
1 seizures 33 HP:0001250
2 abnormality of metabolism/homeostasis 33 HP:0001939
3 abnormality of skin pigmentation 33 HP:0001000
4 infantile spasms 33 HP:0012469

Symptoms via clinical synopsis from OMIM:

58
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:

42
Skin, Liver, Bone, Eye

Publications for Congenital Disorder of Glycosylation, Type I/iix

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

# Title Authors Year
1
A new case of CDG-x with stereotyped dystonic hand movements and optic atrophy. ( 12118527 )
2002
2
Neonatal severe intractable diarrhoea as the presenting manifestation of an unclassified congenital disorder of glycosylation (CDG-x). ( 11668168 )
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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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