CDGIK
MCID: ALG025
MIFTS: 19

Alg1-Congenital Disorder of Glycosylation (CDGIK)

Categories: Blood diseases, Eye diseases, Immune diseases

Aliases & Classifications for Alg1-Congenital Disorder of Glycosylation

MalaCards integrated aliases for Alg1-Congenital Disorder of Glycosylation:

Name: Alg1-Congenital Disorder of Glycosylation 43
Congenital Disorder of Glycosylation Type 1k 43 6 70
Carbohydrate Deficient Glycoprotein Syndrome Type Ik 43
Mannosyltransferase 1 Deficiency 43
Cdg1k 43
Cdgik 43

Classifications:



External Ids:

UMLS 70 C2931005

Summaries for Alg1-Congenital Disorder of Glycosylation

MedlinePlus Genetics : 43 ALG1-congenital disorder of glycosylation (ALG1-CDG, also known as congenital disorder of glycosylation type Ik) is an inherited disorder with varying signs and symptoms that typically develop during infancy and can affect several body systems.Individuals with ALG1-CDG often have intellectual disability, delayed development, and weak muscle tone (hypotonia). Many affected individuals develop seizures that can be difficult to treat. Individuals with ALG1-CDG may also have movement problems such as involuntary rhythmic shaking (tremor) or difficulties with movement and balance (ataxia).People with ALG1-CDG often have problems with blood clotting, which can lead to abnormal clotting or bleeding episodes. Additionally, affected individuals may produce abnormally low levels of proteins called antibodies (or immunoglobulins), particularly immunoglobulin G (IgG). Antibodies help protect the body against infection by foreign particles and germs. A reduction in antibodies can make it difficult for affected individuals to fight infections.Some people with ALG1-CDG have physical abnormalities such as a small head size (microcephaly); unusual facial features; joint deformities called contractures; long, slender fingers and toes (arachnodactyly); or unusually fleshy pads at the tips of the fingers and toes. Eye problems that may occur in people with this condition include eyes that do not point in the same direction (strabismus) or involuntary eye movements (nystagmus). Rarely, affected individuals develop vision loss.Less common abnormalities that occur in people with ALG1-CDG include respiratory problems, reduced sensation in their arms and legs (peripheral neuropathy), swelling (edema), and gastrointestinal difficulties.The signs and symptoms of ALG1-CDG are often severe, with affected individuals surviving only into infancy or childhood. However, some people with this condition are more mildly affected and survive into adulthood.

MalaCards based summary : Alg1-Congenital Disorder of Glycosylation, also known as congenital disorder of glycosylation type 1k, is related to congenital disorder of glycosylation, type ik and congenital disorder of glycosylation, type in. An important gene associated with Alg1-Congenital Disorder of Glycosylation is ALG1 (ALG1 Chitobiosyldiphosphodolichol Beta-Mannosyltransferase). Affiliated tissues include eye.

Related Diseases for Alg1-Congenital Disorder of Glycosylation

Diseases related to Alg1-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 ik 29.7 EEF2KMT ALG1
2 congenital disorder of glycosylation, type in 29.5 EEF2KMT ALG1
3 proteinuria, chronic benign 10.2
4 nephrotic syndrome 10.2
5 familial nephrotic syndrome 10.2

Graphical network of the top 20 diseases related to Alg1-Congenital Disorder of Glycosylation:



Diseases related to Alg1-Congenital Disorder of Glycosylation

Symptoms & Phenotypes for Alg1-Congenital Disorder of Glycosylation

Drugs & Therapeutics for Alg1-Congenital Disorder of Glycosylation

Search Clinical Trials , NIH Clinical Center for Alg1-Congenital Disorder of Glycosylation

Genetic Tests for Alg1-Congenital Disorder of Glycosylation

Anatomical Context for Alg1-Congenital Disorder of Glycosylation

MalaCards organs/tissues related to Alg1-Congenital Disorder of Glycosylation:

40
Eye

Publications for Alg1-Congenital Disorder of Glycosylation

Articles related to Alg1-Congenital Disorder of Glycosylation:

# Title Authors PMID Year
1
Congenital nephrotic syndrome in an infant with ALG1-congenital disorder of glycosylation. 6 61
27325525 2016
2
Genomic diagnosis for children with intellectual disability and/or developmental delay. 6
28554332 2017
3
Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy. 6
27172925 2016
4
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. 6
26931382 2016
5
Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs). 6
26453362 2016
6
Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations. 6
22966035 2012
7
Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations. 6
20679665 2010
8
Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I. 6
14973782 2004
9
Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik. 6
14709599 2004
10
Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik. 6
14973778 2004

Variations for Alg1-Congenital Disorder of Glycosylation

ClinVar genetic disease variations for Alg1-Congenital Disorder of Glycosylation:

6 (show top 50) (show all 61)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ALG1 NM_019109.4(ALG1):c.1129A>G (p.Met377Val) SNV Pathogenic 30536 rs387906925 GRCh37: 16:5132616-5132616
GRCh38: 16:5082615-5082615
2 ALG1 NM_019109.4(ALG1):c.1188T>A (p.Cys396Ter) SNV Pathogenic 30538 rs387906927 GRCh37: 16:5133683-5133683
GRCh38: 16:5083682-5083682
3 ALG1 NM_001330504.1(ALG1):c.917_918insTG (p.Ala307fs) Insertion Pathogenic 424339 rs746019074 GRCh37: 16:5133745-5133746
GRCh38: 16:5083744-5083745
4 ALG1 NM_019109.5(ALG1):c.1063del (p.Leu355fs) Deletion Pathogenic 653599 rs758259853 GRCh37: 16:5131044-5131044
GRCh38: 16:5081043-5081043
5 ALG1 NM_001330504.1(ALG1):c.-30C>T SNV Pathogenic 432180 rs780107088 GRCh37: 16:5123171-5123171
GRCh38: 16:5073170-5073170
6 ALG1 NM_019109.5(ALG1):c.723del (p.Ser242fs) Deletion Pathogenic 997640 GRCh37: 16:5128001-5128001
GRCh38: 16:5078000-5078000
7 ALG1 NM_019109.4(ALG1):c.149A>G (p.Gln50Arg) SNV Pathogenic 193418 rs794726944 GRCh37: 16:5121999-5121999
GRCh38: 16:5071998-5071998
8 ALG1 NM_019109.5(ALG1):c.335T>C (p.Met112Thr) SNV Pathogenic 1032825 GRCh37: 16:5123202-5123202
GRCh38: 16:5073201-5073201
9 ALG1 NM_019109.4(ALG1):c.450C>G (p.Ser150Arg) SNV Pathogenic 4726 rs121908340 GRCh37: 16:5125448-5125448
GRCh38: 16:5075447-5075447
10 ALG1 NM_019109.4(ALG1):c.1025A>C (p.Gln342Pro) SNV Pathogenic 4725 rs267606651 GRCh37: 16:5131010-5131010
GRCh38: 16:5081009-5081009
11 ALG1 NM_001330504.1(ALG1):c.440C>T (p.Ser147Leu) SNV Pathogenic/Likely pathogenic 4724 rs28939378 GRCh37: 16:5128790-5128790
GRCh38: 16:5078789-5078789
12 ALG1 NM_001330504.1(ALG1):c.854+3A>G SNV Pathogenic/Likely pathogenic 224118 rs369160589 GRCh37: 16:5132677-5132677
GRCh38: 16:5082676-5082676
13 ALG1 NM_001330504.1(ALG1):c.493C>T (p.Arg165Trp) SNV Likely pathogenic 30539 rs151173406 GRCh37: 16:5128843-5128843
GRCh38: 16:5078842-5078842
14 ALG1 NM_001330504.1(ALG1):c.530-2A>G SNV Likely pathogenic 580876 rs768733117 GRCh37: 16:5129063-5129063
GRCh38: 16:5079062-5079062
15 overlap with 2 genes NC_000016.10:g.(?_5080946)_(5097739_?)del Deletion Likely pathogenic 584089 GRCh37: 16:5130947-5147740
GRCh38: 16:5080946-5097739
16 ALG1 NM_001330504.1(ALG1):c.319C>T (p.Pro107Ser) SNV Likely pathogenic 619122 rs528261173 GRCh37: 16:5127930-5127930
GRCh38: 16:5077929-5077929
17 ALG1 NM_001330504.1(ALG1):c.544T>C (p.Ser182Pro) SNV Likely pathogenic 522808 rs1555452127 GRCh37: 16:5129079-5129079
GRCh38: 16:5079078-5079078
18 ALG1 NM_001330504.1(ALG1):c.543C>G (p.Phe181Leu) SNV Likely pathogenic 522809 rs1009298200 GRCh37: 16:5129078-5129078
GRCh38: 16:5079077-5079077
19 ALG1 NM_019109.5(ALG1):c.1036C>A (p.Pro346Thr) SNV Likely pathogenic 803209 rs143676440 GRCh37: 16:5131021-5131021
GRCh38: 16:5081020-5081020
20 ALG1 NM_019109.5(ALG1):c.34_51dup (p.Cys12_Leu17dup) Duplication Likely pathogenic 803207 rs1436106795 GRCh37: 16:5121878-5121879
GRCh38: 16:5071877-5071878
21 ALG1 , EEF2KMT NM_019109.5(ALG1):c.1280T>G (p.Phe427Cys) SNV Likely pathogenic 1012177 GRCh37: 16:5134767-5134767
GRCh38: 16:5084766-5084766
22 ALG1 NM_001330504.1(ALG1):c.494G>A (p.Arg165Gln) SNV Conflicting interpretations of pathogenicity 471233 rs201975029 GRCh37: 16:5128844-5128844
GRCh38: 16:5078843-5078843
23 ALG1 NM_001330504.1(ALG1):c.433G>A (p.Glu145Lys) SNV Uncertain significance 639433 rs147412842 GRCh37: 16:5128783-5128783
GRCh38: 16:5078782-5078782
24 ALG1 NM_019109.4(ALG1):c.434G>A (p.Gly145Asp) SNV Uncertain significance 30537 rs387906926 GRCh37: 16:5125432-5125432
GRCh38: 16:5075431-5075431
25 ALG1 NM_001330504.1(ALG1):c.803T>G (p.Val268Gly) SNV Uncertain significance 471231 rs1555452573 GRCh37: 16:5132623-5132623
GRCh38: 16:5082622-5082622
26 ALG1 NM_019109.4(ALG1):c.142C>T (p.Arg48Cys) SNV Uncertain significance 471232 rs1051082443 GRCh37: 16:5121992-5121992
GRCh38: 16:5071991-5071991
27 ALG1 , EEF2KMT NM_201400.4(EEF2KMT):c.*804G>A SNV Uncertain significance 382581 rs1047747 GRCh37: 16:5134829-5134829
GRCh38: 16:5084828-5084828
28 ALG1 NM_001330504.1(ALG1):c.271G>T (p.Asp91Tyr) SNV Uncertain significance 654182 rs1239003111 GRCh37: 16:5127510-5127510
GRCh38: 16:5077509-5077509
29 ALG1 NM_019109.5(ALG1):c.901A>G (p.Lys301Glu) SNV Uncertain significance 939983 GRCh37: 16:5129103-5129103
GRCh38: 16:5079102-5079102
30 ALG1 NM_019109.5(ALG1):c.95C>A (p.Ala32Asp) SNV Uncertain significance 969780 GRCh37: 16:5121945-5121945
GRCh38: 16:5071944-5071944
31 ALG1 NM_019109.5(ALG1):c.782C>T (p.Thr261Met) SNV Uncertain significance 970270 GRCh37: 16:5128799-5128799
GRCh38: 16:5078798-5078798
32 ALG1 NM_019109.5(ALG1):c.772_789dup (p.Ser258_Arg263dup) Duplication Uncertain significance 972181 GRCh37: 16:5128777-5128778
GRCh38: 16:5078776-5078777
33 ALG1 NM_019109.5(ALG1):c.946G>A (p.Val316Ile) SNV Uncertain significance 982983 GRCh37: 16:5129793-5129793
GRCh38: 16:5079792-5079792
34 ALG1 NM_019109.5(ALG1):c.121G>A (p.Gly41Ser) SNV Uncertain significance 1028632 GRCh37: 16:5121971-5121971
GRCh38: 16:5071970-5071970
35 ALG1 , EEF2KMT NM_019109.5(ALG1):c.*787C>G SNV Uncertain significance 1032824 GRCh37: 16:5135669-5135669
GRCh38: 16:5085668-5085668
36 ALG1 NM_019109.5(ALG1):c.287T>A (p.Val96Asp) SNV Uncertain significance 1000220 GRCh37: 16:5123154-5123154
GRCh38: 16:5073153-5073153
37 ALG1 NM_019109.5(ALG1):c.728C>T (p.Pro243Leu) SNV Uncertain significance 1001041 GRCh37: 16:5128006-5128006
GRCh38: 16:5078005-5078005
38 ALG1 , EEF2KMT NM_019109.5(ALG1):c.1327G>A (p.Glu443Lys) SNV Uncertain significance 1008938 GRCh37: 16:5134814-5134814
GRCh38: 16:5084813-5084813
39 ALG1 NM_019109.5(ALG1):c.238A>G (p.Asn80Asp) SNV Uncertain significance 803208 rs755346143 GRCh37: 16:5122981-5122981
GRCh38: 16:5072980-5072980
40 ALG1 NM_019109.5(ALG1):c.988A>G (p.Ser330Gly) SNV Uncertain significance 1032826 GRCh37: 16:5130973-5130973
GRCh38: 16:5080972-5080972
41 ALG1 NM_019109.5(ALG1):c.694C>T (p.Arg232Trp) SNV Uncertain significance 1044308 GRCh37: 16:5127972-5127972
GRCh38: 16:5077971-5077971
42 ALG1 NM_019109.5(ALG1):c.20T>G (p.Val7Gly) SNV Uncertain significance 1047043 GRCh37: 16:5121870-5121870
GRCh38: 16:5071869-5071869
43 ALG1 NM_019109.5(ALG1):c.965A>G (p.Lys322Arg) SNV Uncertain significance 1061103 GRCh37: 16:5130950-5130950
GRCh38: 16:5080949-5080949
44 ALG1 NM_001330504.1(ALG1):c.547A>C (p.Ile183Leu) SNV Uncertain significance 568222 rs767003110 GRCh37: 16:5129082-5129082
GRCh38: 16:5079081-5079081
45 ALG1 NM_019109.5(ALG1):c.993C>T (p.Arg331=) SNV Likely benign 717035 rs561385337 GRCh37: 16:5130978-5130978
GRCh38: 16:5080977-5080977
46 ALG1 NM_019109.5(ALG1):c.654C>T (p.Pro218=) SNV Likely benign 754169 rs375422039 GRCh37: 16:5127932-5127932
GRCh38: 16:5077931-5077931
47 ALG1 NM_019109.5(ALG1):c.787C>T (p.Arg263Trp) SNV Likely benign 798144 rs145317306 GRCh37: 16:5128804-5128804
GRCh38: 16:5078803-5078803
48 ALG1 NM_019109.4(ALG1):c.191C>A (p.Thr64Asn) SNV Likely benign 193421 rs145474820 GRCh37: 16:5122041-5122041
GRCh38: 16:5072040-5072040
49 ALG1 NM_001330504.1(ALG1):c.534C>T (p.Asp178=) SNV Likely benign 382580 rs144029725 GRCh37: 16:5129069-5129069
GRCh38: 16:5079068-5079068
50 ALG1 NM_001330504.1(ALG1):c.467G>A (p.Ser156Asn) SNV Benign/Likely benign 166669 rs17849848 GRCh37: 16:5128817-5128817
GRCh38: 16:5078816-5078816

Expression for Alg1-Congenital Disorder of Glycosylation

Search GEO for disease gene expression data for Alg1-Congenital Disorder of Glycosylation.

Pathways for Alg1-Congenital Disorder of Glycosylation

GO Terms for Alg1-Congenital Disorder of Glycosylation

Molecular functions related to Alg1-Congenital Disorder of Glycosylation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 8.62 EEF2KMT ALG1

Sources for Alg1-Congenital Disorder of Glycosylation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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