CDG1C
MCID: CNG196
MIFTS: 34

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, Smell/Taste 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 56 13
Congenital Disorder of Glycosylation Type 1c 58 29 6 71
Cdg1c 56 58 73
Congenital Disorder of Glycosylation 1c 12 73
Carbohydrate-Deficient Glycoprotein Syndrome, Type I, with Deficient Glycosylation of Dolichol-Linked Oligosaccharide, Formerly 56
Carbohydrate-Deficient Glycoprotein Syndrome, Type V, Formerly; Cdgs5, Formerly 56
Carbohydrate-Deficient Glycoprotein Syndrome, Type V, Formerly 56
Carbohydrate Deficient Glycoprotein Syndrome Type Ic 58
Carbohydrate-Deficient Glycoprotein Syndrome Type V 73
Glycosylation, Congenital Disorder of, Type Ic 39
Congenital Disorder of Glycosylation Type Ic 58
Congenital Disorder of Glycosylation Ic 12
Glucosyltransferase 1 Deficiency 58
Cdg Syndrome Type Ic 58
Cdgs5, Formerly 56
Cdg Ic; Cdgic 56
Alg6-Cdg 58
Cdg Ic 56
Cdg-Ic 58
Cdgic 56
Cdgs5 73

Characteristics:

Orphanet epidemiological data:

58
alg6-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
congenital disorder of glycosylation, type ic:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare gastroenterological diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0080555
OMIM 56 603147
OMIM Phenotypic Series 56 PS212065
MeSH 43 D018981
ICD10 via Orphanet 33 E77.8
UMLS via Orphanet 72 C2930997
Orphanet 58 ORPHA79320
UMLS 71 C2930997

Summaries for Congenital Disorder of Glycosylation, Type Ic

OMIM : 56 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). Related phenotypes are muscular hypotonia and global developmental delay

Disease Ontology : 12 A congenital disorder of glycosylation I that is characterized by psychomotor retardation with delayed walking and speech, hypotonia, seizures, and sometimes protein-losing enteropathy and has material basis in homozygous or compound heterozygous mutation in the ALG6 gene on chromosome 1p31.

UniProtKB/Swiss-Prot : 73 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 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 Ic via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 alg6-congenital disorder of glycosylation 12.3
2 congenital disorder of glycosylation, type ib 11.4
3 congenital disorder of glycosylation, type in 10.3
4 congenital disorders of n-linked glycosylation and multiple pathway 10.2
5 hypotonia 10.2
6 abnormal hair, joint laxity, and developmental delay 10.1
7 brachydactyly 10.1
8 protein-losing enteropathy 10.1
9 epilepsy 10.1
10 strabismus 10.1
11 cerebellar hypoplasia 10.1
12 ataxia and polyneuropathy, adult-onset 10.1
13 mechanical strabismus 10.1
14 atrial standstill 1 10.0
15 dilated cardiomyopathy 10.0
16 congenital disorder of glycosylation, type ia 10.0

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

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

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 hepatic failure 58 31 frequent (33%) Frequent (79-30%) HP:0001399
4 seizures 31 HP:0001250
5 ataxia 31 HP:0001251
6 areflexia 31 HP:0001284
7 strabismus 31 HP:0000486
8 elevated serum transaminases during infections 31 HP:0008150
9 muscular hypotonia of the trunk 31 HP:0008936
10 type i transferrin isoform profile 31 HP:0003642
11 reduced antithrombin iii activity 31 HP:0001976
12 reduced factor xi activity 31 HP:0001929
13 psychomotor retardation 31 HP:0025356

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
ataxia
areflexia
psychomotor retardation
axial hypotonia

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

Hematology:
factor xi deficiency

Clinical features from OMIM:

603147

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

Publications for Congenital Disorder of Glycosylation, Type Ic

Articles related to Congenital Disorder of Glycosylation, Type Ic:

(show all 15)
# Title Authors PMID Year
1
Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic). 6 56 61
21334936 2011
2
Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient. 56 6
16007612 2005
3
Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic. 6 56
10924277 2000
4
Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic. 6 56
10914684 2000
5
A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic. 56 6
10359825 1999
6
The T911C (F304S) substitution in the human ALG6 gene is a common polymorphism and not a causal mutation of CDG-Ic. 6 61
11558905 2001
7
Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview 6
20301507 2005
8
Congenital disorders of glycosylation caused by defects in mannose addition during N-linked oligosaccharide assembly. 56
10642590 2000
9
Molecular basis of carbohydrate-deficient glycoprotein syndromes type I with normal phosphomannomutase activity. 56
10571010 1999
10
Carbohydrate-deficient glycoprotein syndrome type V: deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase. 56
9789065 1998
11
A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide. 56
9710431 1998
12
Congenital disorder of glycosylation type Ic: report of a Japanese case. 61
23044053 2013
13
Employment of single-strand conformation polymorphism analysis in screening for α-1,3 glucosyltransferase gene mutation A333V in Croatian population. 61
21437994 2011
14
Congenital disorder of glycosylation Ic in patients of Indian origin. 61
12855228 2003
15
Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis. 61
10852543 2000

Variations for Congenital Disorder of Glycosylation, Type Ic

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

6 (show top 50) (show all 55) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ALG6 NM_013339.4(ALG6):c.998C>T (p.Ala333Val)SNV Pathogenic 5497 rs121908443 1:63885051-63885051 1:63419380-63419380
2 ALG6 NM_013339.4(ALG6):c.1432T>C (p.Ser478Pro)SNV Pathogenic 5498 rs121908444 1:63902599-63902599 1:63436928-63436928
3 ALG6 NM_013339.4(ALG6):c.167+5G>ASNV Pathogenic 5499 rs1557585860 1:63862273-63862273 1:63396602-63396602
4 ALG6 NM_013339.4(ALG6):c.894_896AAT[1] (p.Ile299del)short repeat Pathogenic 30420 rs387906338 1:63879812-63879814 1:63414141-63414143
5 ALG6 NM_013339.4(ALG6):c.680+2T>GSNV Pathogenic 30421 1:63877004-63877004 1:63411333-63411333
6 ALG6 NM_013339.4(ALG6):c.257+5G>ASNV Pathogenic 95529 rs199682486 1:63868019-63868019 1:63402348-63402348
7 ALG6 NM_013339.4(ALG6):c.146_147del (p.Thr48_Phe49insTer)deletion Pathogenic 651010 1:63862245-63862246 1:63396576-63396577
8 ALG6 NM_013339.4(ALG6):c.999dup (p.Leu334fs)duplication Pathogenic 644709 1:63885052-63885052 1:63419381-63419381
9 ALG6 NC_000001.10:g.(?_63862174)_(63862278_?)deldeletion Pathogenic 661749 1:63862174-63862278 1:63396503-63396607
10 ALG6 NM_013339.4(ALG6):c.171T>A (p.Tyr57Ter)SNV Pathogenic/Likely pathogenic 557002 rs780528545 1:63867928-63867928 1:63402257-63402257
11 ALG6 NM_013339.4(ALG6):c.250G>A (p.Ala84Thr)SNV Likely pathogenic 556498 rs762643273 1:63868007-63868007 1:63402336-63402336
12 ALG6 NM_013339.4(ALG6):c.732_748dup (p.Phe250fs)duplication Likely pathogenic 556039 rs1553155823 1:63877643-63877643 1:63411977-63411993
13 ALG6 NM_013339.4(ALG6):c.429+1G>TSNV Likely pathogenic 553556 rs781097055 1:63872071-63872071 1:63406400-63406400
14 ALG6 NM_013339.4(ALG6):c.430-2A>GSNV Likely pathogenic 558221 rs1553155565 1:63872731-63872731 1:63407060-63407060
15 ALG6 NM_013339.4(ALG6):c.1194_1195delinsG (p.Phe398fs)indel Likely pathogenic 552249 rs1553156894 1:63894664-63894666 1:63428994-63428995
16 ALG6 NM_013339.4(ALG6):c.1128-2A>CSNV Likely pathogenic 553967 rs1553156882 1:63894597-63894597 1:63428926-63428926
17 ALG6 NM_013339.4(ALG6):c.1167del (p.Ser390fs)deletion Likely pathogenic 552130 rs769698652 1:63894635-63894636 1:63428967-63428967
18 ALG6 NM_013339.4(ALG6):c.1A>G (p.Met1Val)SNV Likely pathogenic 554144 rs562934427 1:63836649-63836649 1:63370978-63370978
19 ALG6 NM_013339.4(ALG6):c.2T>C (p.Met1Thr)SNV Likely pathogenic 558047 rs1387214955 1:63836650-63836650 1:63370979-63370979
20 ALG6 NM_013339.4(ALG6):c.680G>A (p.Gly227Glu)SNV Likely pathogenic 381535 rs372079206 1:63877002-63877002 1:63411331-63411331
21 ALG6 NM_013339.4(ALG6):c.257+2dupduplication Likely pathogenic 550168 rs745426479 1:63868015-63868015 1:63402345-63402345
22 ALG6 NM_013339.4(ALG6):c.902+1G>ASNV Likely pathogenic 568368 1:63879818-63879818 1:63414147-63414147
23 ALG6 NM_013339.4(ALG6):c.1127+1G>ASNV Likely pathogenic 575038 rs1557597486 1:63894473-63894473 1:63428802-63428802
24 ALG6 NM_013339.4(ALG6):c.65_66insAAGA (p.Leu23fs)insertion Likely pathogenic 555062 rs1553153399 1:63836713-63836713 1:63371042-63371043
25 ALG6 NM_013339.4(ALG6):c.1194dup (p.Ile399fs)duplication Likely pathogenic 551075 rs1207096732 1:63894659-63894659 1:63428994-63428994
26 ALG6 NM_013339.4(ALG6):c.82_82+8deldeletion Likely pathogenic 558193 rs1424742651 1:63836727-63836736 1:63371059-63371067
27 ALG6 NM_013339.4(ALG6):c.495-2A>GSNV Likely pathogenic 552253 rs1227131990 1:63876815-63876815 1:63411144-63411144
28 ALG6 NM_013339.4(ALG6):c.1136del (p.Pro379fs)deletion Likely pathogenic 555579 rs1553156884 1:63894605-63894606 1:63428936-63428936
29 ALG6 NM_013339.4(ALG6):c.52C>T (p.Arg18Ter)SNV Conflicting interpretations of pathogenicity 555747 rs755933716 1:63836700-63836700 1:63371029-63371029
30 ALG6 NM_013339.4(ALG6):c.156G>A (p.Pro52=)SNV Conflicting interpretations of pathogenicity 297845 rs751004049 1:63862257-63862257 1:63396586-63396586
31 ALG6 NM_013339.4(ALG6):c.495A>G (p.Gln165=)SNV Conflicting interpretations of pathogenicity 297849 rs886046471 1:63876817-63876817 1:63411146-63411146
32 ALG6 NM_013339.4(ALG6):c.988G>T (p.Val330Phe)SNV Uncertain significance 374388 rs1057518724 1:63885041-63885041 1:63419370-63419370
33 ALG6 NM_013339.4(ALG6):c.189_191del (p.Asn64del)deletion Uncertain significance 553295 rs1553155267 1:63867943-63867946 1:63402275-63402277
34 ALG6 NM_013339.4(ALG6):c.1135C>T (p.Pro379Ser)SNV Uncertain significance 128350 rs150976885 1:63894606-63894606 1:63428935-63428935
35 ALG6 NM_013339.4(ALG6):c.1387_1388del (p.Pro463fs)deletion Uncertain significance 555103 rs774242915 1:63902553-63902555 1:63436883-63436884
36 ALG6 NM_013339.4(ALG6):c.1390C>T (p.Gln464Ter)SNV Uncertain significance 555315 rs1553157428 1:63902557-63902557 1:63436886-63436886
37 ALG6 NM_013339.4(ALG6):c.1394_1398dup (p.Pro467fs)duplication Uncertain significance 552110 rs1553157429 1:63902559-63902559 1:63436890-63436894
38 ALG6 NM_013339.4(ALG6):c.1193_1198del (p.Phe398_Ala400delinsSer)deletion Uncertain significance 550138 rs1553156893 1:63894663-63894669 1:63428993-63428998
39 ALG6 NM_013339.4(ALG6):c.1473_1475TAT[4] (p.Ile493dup)short repeat Uncertain significance 555299 rs1475726598 1:63902637-63902637 1:63436975-63436977
40 ALG6 NM_013339.4(ALG6):c.1524del (p.Ter508TyrextTer?)deletion Uncertain significance 551272 rs759636698 1:63902690-63902691 1:63437020-63437020
41 ALG6 NM_013339.4(ALG6):c.781_783AGA[1] (p.Arg262del)short repeat Uncertain significance 552109 rs886548508 1:63877695-63877698 1:63412029-63412031
42 ALG6 NM_013339.4(ALG6):c.338G>A (p.Arg113His)SNV Uncertain significance 551854 rs768372697 1:63870204-63870204 1:63404533-63404533
43 ALG6 NM_013339.4(ALG6):c.1237_1239GAA[2] (p.Glu415del)short repeat Uncertain significance 552476 rs773295759 1:63894707-63894710 1:63429043-63429045
44 ALG6 NM_013339.4(ALG6):c.1469_1474del (p.Asn490_Ile491del)deletion Uncertain significance 556311 rs1553157450 1:63902632-63902638 1:63436965-63436970
45 ALG6 NM_013339.4(ALG6):c.1364_1366TGA[1] (p.Met456del)short repeat Uncertain significance 551929 rs1553157427 1:63902530-63902533 1:63436863-63436865
46 ALG6 NM_013339.4(ALG6):c.235_237del (p.His79del)deletion Uncertain significance 556815 rs1297610094 1:63867989-63867992 1:63402321-63402323
47 ALG6 NM_013339.4(ALG6):c.482A>G (p.Tyr161Cys)SNV Uncertain significance 632114 rs201354339 1:63872785-63872785 1:63407114-63407114
48 ALG6 NM_013339.4(ALG6):c.53G>A (p.Arg18Gln)SNV Uncertain significance 552732 rs1287725303 1:63836701-63836701 1:63371030-63371030
49 ALG6 NM_013339.4(ALG6):c.471_476del (p.156_157LI[1])deletion Uncertain significance 556770 rs1553155569 1:63872768-63872774 1:63407103-63407108
50 ALG6 NM_013339.4(ALG6):c.671A>G (p.Lys224Arg)SNV Uncertain significance 640169 1:63876993-63876993 1:63411322-63411322

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

73
# 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

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

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
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35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
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48 NCI
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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
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72 UMLS via Orphanet
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