MCID: CNG196
MIFTS: 29

Congenital Disorder of Glycosylation, Type Ic

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

Aliases & Classifications for Congenital Disorder of Glycosylation, Type Ic

MalaCards integrated aliases for Congenital Disorder of Glycosylation, Type Ic:

Name: Congenital Disorder of Glycosylation, Type Ic 57 13
Congenital Disorder of Glycosylation Type 1c 59 29 6 73
Cdg1c 57 59 75
Carbohydrate-Deficient Glycoprotein Syndrome, Type I, with Deficient Glycosylation of Dolichol-Linked Oligosaccharide, Formerly 57
Carbohydrate-Deficient Glycoprotein Syndrome, Type V, Formerly; Cdgs5, Formerly 57
Carbohydrate-Deficient Glycoprotein Syndrome, Type V, Formerly 57
Carbohydrate Deficient Glycoprotein Syndrome Type Ic 59
Carbohydrate-Deficient Glycoprotein Syndrome Type V 75
Glycosylation, Congenital Disorder of, Type Ic 40
Congenital Disorder of Glycosylation Type Ic 59
Congenital Disorder of Glycosylation 1c 75
Glucosyltransferase 1 Deficiency 59
Cdg Syndrome Type Ic 59
Cdgs5, Formerly 57
Cdg Ic; Cdgic 57
Alg6-Cdg 59
Cdg Ic 57
Cdg-Ic 59
Cdgic 57
Cdgs5 75

Characteristics:

Orphanet epidemiological data:

59
alg6-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
congenital disorder of glycosylation, type ic:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 603147
Orphanet 59 ORPHA79320
ICD10 via Orphanet 34 E77.8
UMLS via Orphanet 74 C2930997
MeSH 44 D018981
UMLS 73 C2930997

Summaries for Congenital Disorder of Glycosylation, Type Ic

OMIM : 57 Congenital disorders of glycosylation, previously called carbohydrate-deficient glycoprotein syndromes (CDGSs), are caused by defects in mannose addition during N-linked oligosaccharide assembly. CDGs can be divided into 2 types, depending on whether they impair lipid-linked oligosaccharide (LLO) assembly and transfer (CDG I), or affect trimming of the protein-bound oligosaccharide or the addition of sugars to it (CDG II) (Orlean, 2000). CDG Ic is characterized by psychomotor retardation with delayed walking and speech, hypotonia, seizures, and sometimes protein-losing enteropathy. It is the second largest subtype of CDG (summary by Sun et al., 2005). For a discussion of the classification of CDGs, see CDG1A (212065). Freeze and Aebi (1999) reviewed CDG Ib (602579) and CDG Ic. (603147)

MalaCards based summary : Congenital Disorder of Glycosylation, Type Ic, also known as congenital disorder of glycosylation type 1c, is related to alg6-congenital disorder of glycosylation and congenital disorder of glycosylation, type ib, and has symptoms including ataxia and seizures. An important gene associated with Congenital Disorder of Glycosylation, Type Ic is ALG6 (ALG6, Alpha-1,3-Glucosyltransferase). Related phenotypes are muscular hypotonia and global developmental delay

UniProtKB/Swiss-Prot : 75 Congenital disorder of glycosylation 1C: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.

Related Diseases for Congenital Disorder of Glycosylation, Type Ic

Diseases in the Congenital Disorder of Glycosylation, Type in 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 Iq
Congenital Disorder of Glycosylation, Type Io 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 Ic via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 alg6-congenital disorder of glycosylation 11.8
2 congenital disorder of glycosylation, type ib 11.1
3 congenital disorder of glycosylation, type in 10.2

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Ic

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
ataxia
areflexia
psychomotor retardation
axial hypotonia

Laboratory Abnormalities:
decreased serum cholesterol
abnormal isoelectric focusing of serum transferrin (type 1 pattern)
decreased antithrombin iii
decreased protein c
elevated serum transaminases during infections
more
Head And Neck Eyes:
strabismus

Hematology:
factor xi deficiency


Clinical features from OMIM:

603147

Human phenotypes related to Congenital Disorder of Glycosylation, Type Ic:

59 32 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
2 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
3 hepatic failure 59 32 frequent (33%) Frequent (79-30%) HP:0001399
4 seizures 32 HP:0001250
5 ataxia 32 HP:0001251
6 strabismus 32 HP:0000486
7 areflexia 32 HP:0001284
8 muscular hypotonia of the trunk 32 HP:0008936
9 reduced factor xi activity 32 HP:0001929
10 type i transferrin isoform profile 32 HP:0003642
11 elevated serum transaminases during infections 32 HP:0008150
12 reduced antithrombin iii activity 32 HP:0001976

UMLS symptoms related to Congenital Disorder of Glycosylation, Type Ic:


ataxia, seizures

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type Ic

Search Clinical Trials , NIH Clinical Center for Congenital Disorder of Glycosylation, Type Ic

Genetic Tests for Congenital Disorder of Glycosylation, Type Ic

Genetic tests related to Congenital Disorder of Glycosylation, Type Ic:

# Genetic test Affiliating Genes
1 Congenital Disorder of Glycosylation Type 1c 29 ALG6

Anatomical Context for Congenital Disorder of Glycosylation, Type Ic

Publications for Congenital Disorder of Glycosylation, Type Ic

Articles related to Congenital Disorder of Glycosylation, Type Ic:

# Title Authors Year
1
Congenital disorder of glycosylation type Ic: report of a Japanese case. ( 23044053 )
2013
2
Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic). ( 21334936 )
2011
3
Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis. ( 10852543 )
2000

Variations for Congenital Disorder of Glycosylation, Type Ic

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

75
# Symbol AA change Variation ID SNP ID
1 ALG6 p.Ala333Val VAR_013443 rs121908443
2 ALG6 p.Ser478Pro VAR_013444 rs121908444
3 ALG6 p.Tyr131His VAR_022511 rs35383149
4 ALG6 p.Ser170Ile VAR_022512
5 ALG6 p.Gly227Glu VAR_022513 rs372079206
6 ALG6 p.Ser308Arg VAR_022514

ClinVar genetic disease variations for Congenital Disorder of Glycosylation, Type Ic:

6
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 ALG6 NM_013339.3(ALG6): c.998C> T (p.Ala333Val) single nucleotide variant Pathogenic rs121908443 GRCh37 Chromosome 1, 63885051: 63885051
2 ALG6 NM_013339.3(ALG6): c.998C> T (p.Ala333Val) single nucleotide variant Pathogenic rs121908443 GRCh38 Chromosome 1, 63419380: 63419380
3 ALG6 NM_013339.3(ALG6): c.1432T> C (p.Ser478Pro) single nucleotide variant Pathogenic rs121908444 GRCh37 Chromosome 1, 63902599: 63902599
4 ALG6 NM_013339.3(ALG6): c.1432T> C (p.Ser478Pro) single nucleotide variant Pathogenic rs121908444 GRCh38 Chromosome 1, 63436928: 63436928
5 ALG6 ALG6, IVS3DS, G-A, +5 single nucleotide variant Pathogenic
6 ALG6 NM_013339.3(ALG6): c.897_899delAAT (p.Ile299del) deletion Pathogenic rs387906338 GRCh37 Chromosome 1, 63879812: 63879814
7 ALG6 NM_013339.3(ALG6): c.897_899delAAT (p.Ile299del) deletion Pathogenic rs387906338 GRCh38 Chromosome 1, 63414141: 63414143
8 ALG6 ALG6, IVS7DS, T-G, +2 single nucleotide variant Pathogenic
9 ALG6 NM_013339.3(ALG6): c.257+5G> A single nucleotide variant Pathogenic rs199682486 GRCh37 Chromosome 1, 63868019: 63868019
10 ALG6 NM_013339.3(ALG6): c.257+5G> A single nucleotide variant Pathogenic rs199682486 GRCh38 Chromosome 1, 63402348: 63402348
11 ALG6 NM_013339.3(ALG6): c.988G> T (p.Val330Phe) single nucleotide variant Uncertain significance rs1057518724 GRCh37 Chromosome 1, 63885041: 63885041
12 ALG6 NM_013339.3(ALG6): c.988G> T (p.Val330Phe) single nucleotide variant Uncertain significance rs1057518724 GRCh38 Chromosome 1, 63419370: 63419370
13 ALG6 NM_013339.3(ALG6): c.1357C> G (p.Leu453Val) single nucleotide variant Benign rs41285372 GRCh37 Chromosome 1, 63902524: 63902524
14 ALG6 NM_013339.3(ALG6): c.1357C> G (p.Leu453Val) single nucleotide variant Benign rs41285372 GRCh38 Chromosome 1, 63436853: 63436853
15 ALG6 NM_013339.3(ALG6): c.1092T> C (p.Phe364=) single nucleotide variant Likely benign rs751867296 GRCh38 Chromosome 1, 63428766: 63428766
16 ALG6 NM_013339.3(ALG6): c.1092T> C (p.Phe364=) single nucleotide variant Likely benign rs751867296 GRCh37 Chromosome 1, 63894437: 63894437

Expression for Congenital Disorder of Glycosylation, Type Ic

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

Pathways for Congenital Disorder of Glycosylation, Type Ic

GO Terms for Congenital Disorder of Glycosylation, Type Ic

Sources for Congenital Disorder of Glycosylation, Type Ic

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
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45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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