CDGIC
MCID: ALG024
MIFTS: 21

Alg6-Congenital Disorder of Glycosylation (CDGIC)

Categories: Blood diseases, Eye diseases

Aliases & Classifications for Alg6-Congenital Disorder of Glycosylation

MalaCards integrated aliases for Alg6-Congenital Disorder of Glycosylation:

Name: Alg6-Congenital Disorder of Glycosylation 43
Carbohydrate-Deficient Glycoprotein Syndrome Type Ic 43
Carbohydrate-Deficient Glycoprotein Syndrome, Type V 6
Carbohydrate-Deficient Glycoprotein Syndrome Type V 43
Congenital Disorder of Glycosylation Type Ic 43
Congenital Disorder of Glycosylation Type 1c 71
Glucosyltransferase 1 Deficiency 43
Cdg Syndrome Type Ic 43
Cdg1c 43
Cdgic 43

Classifications:



External Ids:

UMLS 71 C2930997

Summaries for Alg6-Congenital Disorder of Glycosylation

MedlinePlus Genetics : 43 ALG6-congenital disorder of glycosylation (ALG6-CDG, also known as congenital disorder of glycosylation type Ic) is an inherited condition that affects many parts of the body. The signs and symptoms of ALG6-CDG vary widely among people with the condition.Individuals with ALG6-CDG typically develop signs and symptoms of the condition during infancy. They may have difficulty gaining weight and growing at the expected rate (failure to thrive). Affected infants often have weak muscle tone (hypotonia) and developmental delay.People with ALG6-CDG may have seizures, problems with coordination and balance (ataxia), or stroke-like episodes that involve an extreme lack of energy (lethargy) and temporary paralysis. They may also develop blood clotting disorders. Some individuals with ALG6-CDG have eye abnormalities including eyes that do not look in the same direction (strabismus) and an eye disorder called retinitis pigmentosa, which causes vision loss. Females with ALG6-CDG have hypergonadotropic hypogonadism, which affects the production of hormones that direct sexual development. As a result, most females with ALG6-CDG do not go through puberty.

MalaCards based summary : Alg6-Congenital Disorder of Glycosylation, also known as carbohydrate-deficient glycoprotein syndrome type ic, is related to congenital disorder of glycosylation, type ic and congenital disorders of n-linked glycosylation and multiple pathway, and has symptoms including seizures and ataxia. An important gene associated with Alg6-Congenital Disorder of Glycosylation is ALG6 (ALG6 Alpha-1,3-Glucosyltransferase). Affiliated tissues include eye.

Related Diseases for Alg6-Congenital Disorder of Glycosylation

Diseases related to Alg6-Congenital Disorder of Glycosylation via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type ic 11.3
2 congenital disorders of n-linked glycosylation and multiple pathway 10.3
3 hypotonia 10.3
4 congenital disorder of glycosylation, type in 10.2
5 strabismus 10.2
6 ataxia and polyneuropathy, adult-onset 10.2
7 cerebellar hypoplasia 10.2
8 mechanical strabismus 10.2

Graphical network of the top 20 diseases related to Alg6-Congenital Disorder of Glycosylation:



Diseases related to Alg6-Congenital Disorder of Glycosylation

Symptoms & Phenotypes for Alg6-Congenital Disorder of Glycosylation

UMLS symptoms related to Alg6-Congenital Disorder of Glycosylation:


seizures, ataxia

Drugs & Therapeutics for Alg6-Congenital Disorder of Glycosylation

Search Clinical Trials , NIH Clinical Center for Alg6-Congenital Disorder of Glycosylation

Genetic Tests for Alg6-Congenital Disorder of Glycosylation

Anatomical Context for Alg6-Congenital Disorder of Glycosylation

MalaCards organs/tissues related to Alg6-Congenital Disorder of Glycosylation:

40
Eye

Publications for Alg6-Congenital Disorder of Glycosylation

Articles related to Alg6-Congenital Disorder of Glycosylation:

# Title Authors PMID Year
1
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
2
Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient. 6
16007612 2005
3
Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic. 6
10924277 2000
4
Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic. 6
10914684 2000
5
A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic. 6
10359825 1999
6
Congenital disorder of glycosylation type Ic: report of a Japanese case. 61
23044053 2013
7
Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic). 61
21334936 2011
8
Employment of single-strand conformation polymorphism analysis in screening for α-1,3 glucosyltransferase gene mutation A333V in Croatian population. 61
21437994 2011
9
Congenital disorder of glycosylation Ic in patients of Indian origin. 61
12855228 2003
10
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 Alg6-Congenital Disorder of Glycosylation

ClinVar genetic disease variations for Alg6-Congenital Disorder of Glycosylation:

6 (show top 50) (show all 140)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ALG6 NM_013339.4(ALG6):c.1432T>C (p.Ser478Pro) SNV Pathogenic 5498 rs121908444 1:63902599-63902599 1:63436928-63436928
2 ALG6 NM_013339.4(ALG6):c.167+5G>A SNV Pathogenic 5499 rs1557585860 1:63862273-63862273 1:63396602-63396602
3 ALG6 NM_013339.4(ALG6):c.680+2T>G SNV Pathogenic 30421 rs868768232 1:63877004-63877004 1:63411333-63411333
4 ALG6 NM_013339.4(ALG6):c.999dup (p.Leu334fs) Duplication Pathogenic 644709 rs1570077925 1:63885051-63885052 1:63419380-63419381
5 ALG6 NM_013339.4(ALG6):c.146_147del (p.Thr48_Phe49insTer) Deletion Pathogenic 651010 rs756566938 1:63862245-63862246 1:63396574-63396575
6 ALG6 NC_000001.11:g.(?_63396503)_(63396607_?)del Deletion Pathogenic 661749 1:63862174-63862278 1:63396503-63396607
7 ALG6 NC_000001.11:g.(?_63428723)_(63429136_?)del Deletion Pathogenic 830956 1:63894394-63894807
8 ALG6 NM_013339.4(ALG6):c.290del (p.Leu97fs) Deletion Pathogenic 842549 1:63870156-63870156 1:63404485-63404485
9 ALG6 NM_013339.4(ALG6):c.492dup (p.Gln165fs) Duplication Pathogenic 849281 1:63872791-63872792 1:63407120-63407121
10 ALG6 NM_013339.4(ALG6):c.1338dup (p.Val447fs) Duplication Pathogenic 851522 1:63902504-63902505 1:63436833-63436834
11 ALG6 NM_013339.4(ALG6):c.316C>T (p.Gln106Ter) SNV Pathogenic 856276 1:63870182-63870182 1:63404511-63404511
12 ALG6 NM_013339.4(ALG6):c.1006_1007del (p.Phe336fs) Deletion Pathogenic 959942 1:63885059-63885060 1:63419388-63419389
13 ALG6 NM_013339.4(ALG6):c.452del (p.Leu151fs) Deletion Pathogenic 960558 1:63872754-63872754 1:63407083-63407083
14 ALG6 NM_013339.4(ALG6):c.1018del (p.Ser340fs) Deletion Pathogenic 965480 1:63885068-63885068 1:63419397-63419397
15 ALG6 NM_013339.4(ALG6):c.1249C>T (p.Gln417Ter) SNV Pathogenic 968257 1:63894720-63894720 1:63429049-63429049
16 ALG6 NM_013339.4(ALG6):c.849del (p.Asn283fs) Deletion Pathogenic 940304 1:63879764-63879764 1:63414093-63414093
17 ALG6 NM_013339.4(ALG6):c.998C>T (p.Ala333Val) SNV Pathogenic 5497 rs121908443 1:63885051-63885051 1:63419380-63419380
18 ALG6 NM_013339.4(ALG6):c.894_896AAT[1] (p.Ile299del) Microsatellite Pathogenic 30420 rs387906338 1:63879808-63879810 1:63414137-63414139
19 ALG6 NM_013339.4(ALG6):c.257+5G>A SNV Pathogenic/Likely pathogenic 95529 rs199682486 1:63868019-63868019 1:63402348-63402348
20 ALG6 NM_013339.4(ALG6):c.171T>A (p.Tyr57Ter) SNV Pathogenic/Likely pathogenic 557002 rs780528545 1:63867928-63867928 1:63402257-63402257
21 ALG6 NM_013339.4(ALG6):c.2T>C (p.Met1Thr) SNV Likely pathogenic 558047 rs1387214955 1:63836650-63836650 1:63370979-63370979
22 ALG6 NM_013339.4(ALG6):c.82_82+8del Deletion Likely pathogenic 558193 rs1424742651 1:63836728-63836736 1:63371057-63371065
23 ALG6 NM_013339.4(ALG6):c.430-2A>G SNV Likely pathogenic 558221 rs1553155565 1:63872731-63872731 1:63407060-63407060
24 ALG6 NM_013339.4(ALG6):c.1127+1G>A SNV Likely pathogenic 575038 rs1557597486 1:63894473-63894473 1:63428802-63428802
25 ALG6 NM_013339.4(ALG6):c.732_748dup (p.Phe250fs) Duplication Likely pathogenic 556039 rs1553155823 1:63877643-63877644 1:63411972-63411973
26 ALG6 NM_013339.4(ALG6):c.250G>A (p.Ala84Thr) SNV Likely pathogenic 556498 rs762643273 1:63868007-63868007 1:63402336-63402336
27 ALG6 NM_013339.4(ALG6):c.1A>G (p.Met1Val) SNV Likely pathogenic 554144 rs562934427 1:63836649-63836649 1:63370978-63370978
28 ALG6 NM_013339.4(ALG6):c.65_66insAAGA (p.Leu23fs) Insertion Likely pathogenic 555062 rs1553153399 1:63836713-63836714 1:63371042-63371043
29 ALG6 NM_013339.4(ALG6):c.429+1G>T SNV Likely pathogenic 553556 rs781097055 1:63872071-63872071 1:63406400-63406400
30 ALG6 NM_013339.4(ALG6):c.1128-2A>C SNV Likely pathogenic 553967 rs1553156882 1:63894597-63894597 1:63428926-63428926
31 ALG6 NM_013339.4(ALG6):c.1136del (p.Pro379fs) Deletion Likely pathogenic 555579 rs1553156884 1:63894606-63894606 1:63428935-63428935
32 ALG6 NC_000001.11:g.(?_63396503)_(63396607_?)dup Duplication Likely pathogenic 832047 1:63862174-63862278
33 ALG6 NM_013339.4(ALG6):c.257+2dup Duplication Likely pathogenic 550168 rs745426479 1:63868015-63868016 1:63402344-63402345
34 ALG6 NM_013339.4(ALG6):c.680G>A (p.Gly227Glu) SNV Likely pathogenic 381535 rs372079206 1:63877002-63877002 1:63411331-63411331
35 ALG6 NM_013339.4(ALG6):c.1194dup (p.Ile399fs) Duplication Likely pathogenic 551075 rs1207096732 1:63894659-63894660 1:63428988-63428989
36 ALG6 NM_013339.4(ALG6):c.1167del (p.Ser390fs) Deletion Likely pathogenic 552130 rs769698652 1:63894636-63894636 1:63428965-63428965
37 ALG6 NM_013339.4(ALG6):c.1194_1195delinsG (p.Phe398fs) Indel Likely pathogenic 552249 rs1553156894 1:63894665-63894666 1:63428994-63428995
38 ALG6 NM_013339.4(ALG6):c.495-2A>G SNV Likely pathogenic 552253 rs1227131990 1:63876815-63876815 1:63411144-63411144
39 ALG6 NM_013339.4(ALG6):c.257+2T>C SNV Likely pathogenic 955909 1:63868016-63868016 1:63402345-63402345
40 ALG6 NM_013339.4(ALG6):c.1128-1G>A SNV Likely pathogenic 983074 1:63894598-63894598 1:63428927-63428927
41 ALG6 NM_013339.4(ALG6):c.902+1G>A SNV Likely pathogenic 568368 rs1036516188 1:63879818-63879818 1:63414147-63414147
42 ALG6 NM_013339.4(ALG6):c.167+7T>C SNV Conflicting interpretations of pathogenicity 297846 rs374146302 1:63862275-63862275 1:63396604-63396604
43 ALG6 NM_013339.4(ALG6):c.156G>A (p.Pro52=) SNV Conflicting interpretations of pathogenicity 297845 rs751004049 1:63862257-63862257 1:63396586-63396586
44 ALG6 NM_013339.4(ALG6):c.1398A>T (p.Leu466=) SNV Conflicting interpretations of pathogenicity 382062 rs140158304 1:63902565-63902565 1:63436894-63436894
45 ALG6 NM_013339.4(ALG6):c.1314T>C (p.Ile438=) SNV Conflicting interpretations of pathogenicity 210119 rs146939069 1:63894785-63894785 1:63429114-63429114
46 ALG6 NM_013339.4(ALG6):c.52C>T (p.Arg18Ter) SNV Conflicting interpretations of pathogenicity 555747 rs755933716 1:63836700-63836700 1:63371029-63371029
47 ALG6 NM_013339.4(ALG6):c.495A>G (p.Gln165=) SNV Conflicting interpretations of pathogenicity 297849 rs886046471 1:63876817-63876817 1:63411146-63411146
48 ALG6 NM_013339.4(ALG6):c.1387_1388del (p.Pro463fs) Deletion Uncertain significance 555103 rs774242915 1:63902554-63902555 1:63436883-63436884
49 ALG6 NM_013339.4(ALG6):c.1473_1475TAT[4] (p.Ile493dup) Microsatellite Uncertain significance 555299 rs1475726598 1:63902637-63902638 1:63436966-63436967
50 ALG6 NM_013339.4(ALG6):c.1390C>T (p.Gln464Ter) SNV Uncertain significance 555315 rs1553157428 1:63902557-63902557 1:63436886-63436886

Expression for Alg6-Congenital Disorder of Glycosylation

Search GEO for disease gene expression data for Alg6-Congenital Disorder of Glycosylation.

Pathways for Alg6-Congenital Disorder of Glycosylation

GO Terms for Alg6-Congenital Disorder of Glycosylation

Sources for Alg6-Congenital Disorder of Glycosylation

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