CDG1C
MCID: CNG196
MIFTS: 33

Congenital Disorder of Glycosylation, Type Ic (CDG1C)

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 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 seizures and ataxia. An important gene associated with Congenital Disorder of Glycosylation, Type Ic is ALG6 (ALG6, Alpha-1,3-Glucosyltransferase). Affiliated tissues include skin, liver and bone, and 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 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 11.9
2 congenital disorder of glycosylation, type ib 11.2
3 congenital disorder of glycosylation, type in 10.3
4 dilated cardiomyopathy 10.1
5 polyglucosan body myopathy 1 with or without immunodeficiency 10.1
6 epilepsy 10.1

Graphical network of the top 20 diseases related to Congenital Disorder of Glycosylation, Type Ic:



Diseases related to Congenital Disorder of Glycosylation, Type Ic

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:


seizures, ataxia

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

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

41
Skin, Liver, Bone, Eye

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 top 50) (show all 100)
# 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 NM_013339.3(ALG6): c.167+5G> A 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 NM_013339.3(ALG6): c.680+2T> G single nucleotide variant Pathogenic
9 ALG6 NM_013339.3(ALG6): c.391T> C (p.Tyr131His) single nucleotide variant Conflicting interpretations of pathogenicity rs35383149 GRCh37 Chromosome 1, 63872032: 63872032
10 ALG6 NM_013339.3(ALG6): c.391T> C (p.Tyr131His) single nucleotide variant Conflicting interpretations of pathogenicity rs35383149 GRCh38 Chromosome 1, 63406361: 63406361
11 ALG6 NM_013339.3(ALG6): c.257+5G> A single nucleotide variant Pathogenic rs199682486 GRCh37 Chromosome 1, 63868019: 63868019
12 ALG6 NM_013339.3(ALG6): c.257+5G> A single nucleotide variant Pathogenic rs199682486 GRCh38 Chromosome 1, 63402348: 63402348
13 ALG6 NM_013339.3(ALG6): c.1135C> T (p.Pro379Ser) single nucleotide variant Uncertain significance rs150976885 GRCh37 Chromosome 1, 63894606: 63894606
14 ALG6 NM_013339.3(ALG6): c.1135C> T (p.Pro379Ser) single nucleotide variant Uncertain significance rs150976885 GRCh38 Chromosome 1, 63428935: 63428935
15 ALG6 NM_013339.3(ALG6): c.726C> T (p.Phe242=) single nucleotide variant Benign/Likely benign rs59848367 GRCh37 Chromosome 1, 63877642: 63877642
16 ALG6 NM_013339.3(ALG6): c.726C> T (p.Phe242=) single nucleotide variant Benign/Likely benign rs59848367 GRCh38 Chromosome 1, 63411971: 63411971
17 ALG6 NM_013339.3(ALG6): c.751A> G (p.Thr251Ala) single nucleotide variant Benign/Likely benign rs61755863 GRCh37 Chromosome 1, 63877667: 63877667
18 ALG6 NM_013339.3(ALG6): c.751A> G (p.Thr251Ala) single nucleotide variant Benign/Likely benign rs61755863 GRCh38 Chromosome 1, 63411996: 63411996
19 ALG6 NM_013339.3(ALG6): c.156G> A (p.Pro52=) single nucleotide variant Conflicting interpretations of pathogenicity rs751004049 GRCh38 Chromosome 1, 63396586: 63396586
20 ALG6 NM_013339.3(ALG6): c.156G> A (p.Pro52=) single nucleotide variant Conflicting interpretations of pathogenicity rs751004049 GRCh37 Chromosome 1, 63862257: 63862257
21 ALG6 NM_013339.3(ALG6): c.495A> G (p.Gln165=) single nucleotide variant Conflicting interpretations of pathogenicity rs886046471 GRCh38 Chromosome 1, 63411146: 63411146
22 ALG6 NM_013339.3(ALG6): c.495A> G (p.Gln165=) single nucleotide variant Conflicting interpretations of pathogenicity rs886046471 GRCh37 Chromosome 1, 63876817: 63876817
23 ALG6 NM_013339.3(ALG6): c.988G> T (p.Val330Phe) single nucleotide variant Uncertain significance rs1057518724 GRCh37 Chromosome 1, 63885041: 63885041
24 ALG6 NM_013339.3(ALG6): c.988G> T (p.Val330Phe) single nucleotide variant Uncertain significance rs1057518724 GRCh38 Chromosome 1, 63419370: 63419370
25 ALG6 NM_013339.3(ALG6): c.1357C> G (p.Leu453Val) single nucleotide variant Benign rs41285372 GRCh38 Chromosome 1, 63436853: 63436853
26 ALG6 NM_013339.3(ALG6): c.1357C> G (p.Leu453Val) single nucleotide variant Benign rs41285372 GRCh37 Chromosome 1, 63902524: 63902524
27 ALG6 NM_013339.3(ALG6): c.680G> A (p.Gly227Glu) single nucleotide variant Likely pathogenic rs372079206 GRCh37 Chromosome 1, 63877002: 63877002
28 ALG6 NM_013339.3(ALG6): c.680G> A (p.Gly227Glu) single nucleotide variant Likely pathogenic rs372079206 GRCh38 Chromosome 1, 63411331: 63411331
29 ALG6 NM_013339.3(ALG6): c.1092T> C (p.Phe364=) single nucleotide variant Likely benign rs751867296 GRCh37 Chromosome 1, 63894437: 63894437
30 ALG6 NM_013339.3(ALG6): c.1092T> C (p.Phe364=) single nucleotide variant Likely benign rs751867296 GRCh38 Chromosome 1, 63428766: 63428766
31 ALG6 NM_013339.3(ALG6): c.52C> T (p.Arg18Ter) single nucleotide variant Likely pathogenic rs755933716 GRCh37 Chromosome 1, 63836700: 63836700
32 ALG6 NM_013339.3(ALG6): c.52C> T (p.Arg18Ter) single nucleotide variant Likely pathogenic rs755933716 GRCh38 Chromosome 1, 63371029: 63371029
33 ALG6 NM_013339.3(ALG6): c.189_191delCAA (p.Asn64del) deletion Uncertain significance GRCh37 Chromosome 1, 63867943: 63867946
34 ALG6 NM_013339.3(ALG6): c.189_191delCAA (p.Asn64del) deletion Uncertain significance GRCh38 Chromosome 1, 63402275: 63402277
35 ALG6 NM_013339.3(ALG6): c.732_748dup (p.Phe250Serfs) duplication Likely pathogenic GRCh37 Chromosome 1, 63877643: 63877643
36 ALG6 NM_013339.3(ALG6): c.732_748dup (p.Phe250Serfs) duplication Likely pathogenic GRCh38 Chromosome 1, 63411977: 63411993
37 ALG6 NM_013339.3(ALG6): c.784_786delAGA (p.Arg262del) deletion Uncertain significance GRCh37 Chromosome 1, 63877695: 63877698
38 ALG6 NM_013339.3(ALG6): c.784_786delAGA (p.Arg262del) deletion Uncertain significance GRCh38 Chromosome 1, 63412029: 63412031
39 ALG6 NM_013339.3(ALG6): c.1128-2A> C single nucleotide variant Likely pathogenic GRCh37 Chromosome 1, 63894597: 63894597
40 ALG6 NM_013339.3(ALG6): c.1128-2A> C single nucleotide variant Likely pathogenic GRCh38 Chromosome 1, 63428926: 63428926
41 ALG6 NM_013339.3(ALG6): c.1167delC (p.Ser390Leufs) deletion Likely pathogenic GRCh37 Chromosome 1, 63894635: 63894636
42 ALG6 NM_013339.3(ALG6): c.1167delC (p.Ser390Leufs) deletion Likely pathogenic GRCh38 Chromosome 1, 63428967: 63428967
43 ALG6 NM_013339.3(ALG6): c.1A> G (p.Met1Val) single nucleotide variant Likely pathogenic rs562934427 GRCh37 Chromosome 1, 63836649: 63836649
44 ALG6 NM_013339.3(ALG6): c.1A> G (p.Met1Val) single nucleotide variant Likely pathogenic rs562934427 GRCh38 Chromosome 1, 63370978: 63370978
45 ALG6 NM_013339.3(ALG6): c.1193_1198del6 (p.Phe398_Ala400delinsSer) deletion Uncertain significance GRCh37 Chromosome 1, 63894663: 63894669
46 ALG6 NM_013339.3(ALG6): c.1193_1198del6 (p.Phe398_Ala400delinsSer) deletion Uncertain significance GRCh38 Chromosome 1, 63428993: 63428998
47 ALG6 NM_013339.3(ALG6): c.2T> C (p.Met1Thr) single nucleotide variant Likely pathogenic GRCh37 Chromosome 1, 63836650: 63836650
48 ALG6 NM_013339.3(ALG6): c.2T> C (p.Met1Thr) single nucleotide variant Likely pathogenic GRCh38 Chromosome 1, 63370979: 63370979
49 ALG6 NM_013339.3(ALG6): c.1387_1388delCC (p.Pro463Serfs) deletion Uncertain significance GRCh37 Chromosome 1, 63902553: 63902555
50 ALG6 NM_013339.3(ALG6): c.1387_1388delCC (p.Pro463Serfs) deletion Uncertain significance GRCh38 Chromosome 1, 63436883: 63436884

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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