CDG1K
MCID: CNG192
MIFTS: 33

Congenital Disorder of Glycosylation, Type Ik (CDG1K)

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 Ik

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

Name: Congenital Disorder of Glycosylation, Type Ik 57 13
Congenital Disorder of Glycosylation Type 1k 59 29 6 72
Cdg1k 57 59 74
Congenital Disorder of Glycosylation Type Ik 59 74
Congenital Disorder of Glycosylation 1k 12 74
Cdg Ik 57 74
Cdg-Ik 59 74
Cdgik 57 74
Carbohydrate Deficient Glycoprotein Syndrome Type Ik 59
Glycosylation, Congenital Disorder of, Type Ik 40
Congenital Disorder of Glycosylation Ik 12
Mannosyltransferase 1 Deficiency 59
Cdg Syndrome Type Ik 59
Cdg Ik; Cdgik 57
Alg1-Cdg 59

Characteristics:

Orphanet epidemiological data:

59
alg1-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood,infantile;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
severe phenotype
death may occur in early infancy
dysmorphic features are variable


HPO:

32
congenital disorder of glycosylation, type ik:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080563
MeSH 44 D018981
ICD10 via Orphanet 34 E77.8
UMLS via Orphanet 73 C2931005
Orphanet 59 ORPHA79327
UMLS 72 C2931005

Summaries for Congenital Disorder of Glycosylation, Type Ik

OMIM : 57 Congenital disorders of glycosylation (CDGs) comprise a group of multisystem diseases with mostly severe psychomotor and mental retardation. Type I CDG comprises those disorders in which there are defects that affect biosynthesis of dolichol-linked oligosaccharides in the cytosol or the endoplasmic reticulum (ER), as well as defects involving the transfer of oligosaccharides onto nascent glycoproteins. Type II CDG comprises all defects of further trimming and elongation of N-linked oligosaccharides in the ER and Golgi (Schwarz et al., 2004). CDG1K is a type I CDG characterized by predominant neurologic involvement. Survival ranges from the second day of life to adulthood. The liver is affected in a minority of patients and shows hepatomegaly, edema, ascites, cholestatic jaundice, portal hypertension, and Budd-Chiari syndrome (summary by Marques-da-Silva et al., 2017). For a general discussion of CDGs, see CDG1A (212065). (608540)

MalaCards based summary : Congenital Disorder of Glycosylation, Type Ik, also known as congenital disorder of glycosylation type 1k, is related to alg1-congenital disorder of glycosylation and congenital disorder of glycosylation, type in. An important gene associated with Congenital Disorder of Glycosylation, Type Ik is ALG1 (ALG1 Chitobiosyldiphosphodolichol Beta-Mannosyltransferase). Affiliated tissues include liver, and related phenotypes are seizures and global developmental delay

Disease Ontology : 12 A congenital disorder of glycosylation I that is characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly and has material basis in homozygous or compound heterozygous mutation in the gene encoding beta-1,4-mannosyltransferase on chromosome 16p13.

UniProtKB/Swiss-Prot : 74 Congenital disorder of glycosylation 1K: 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 Ik

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 Ik via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 alg1-congenital disorder of glycosylation 11.5
2 congenital disorder of glycosylation, type in 10.4
3 congenital disorders of n-linked glycosylation and multiple pathway 10.4
4 autosomal recessive disease 10.2
5 alcohol use disorder 10.2
6 hypertonia 10.2
7 fetal edema 10.2
8 hydrops fetalis 10.2

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



Diseases related to Congenital Disorder of Glycosylation, Type Ik

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Ik

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

59 32 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
2 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
3 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
4 nephropathy 59 32 frequent (33%) Frequent (79-30%) HP:0000112
5 hypertrophic cardiomyopathy 59 32 frequent (33%) Frequent (79-30%) HP:0001639
6 abnormality of immune system physiology 59 32 frequent (33%) Frequent (79-30%) HP:0010978
7 hypogonadism 59 32 frequent (33%) Frequent (79-30%) HP:0000135
8 hepatic failure 59 32 frequent (33%) Frequent (79-30%) HP:0001399
9 hypertelorism 32 HP:0000316
10 muscular hypotonia 32 HP:0001252
11 splenomegaly 32 HP:0001744
12 hepatomegaly 32 HP:0002240
13 flexion contracture 32 HP:0001371
14 micrognathia 32 HP:0000347
15 generalized hypotonia 32 HP:0001290
16 areflexia 32 HP:0001284
17 intrauterine growth retardation 32 HP:0001511
18 cardiomyopathy 32 HP:0001638
19 large fontanelles 32 HP:0000239
20 thin vermilion border 32 HP:0000233
21 cerebral atrophy 32 HP:0002059
22 type i transferrin isoform profile 32 HP:0003642
23 abnormality of the amniotic fluid 32 HP:0001560
24 nonimmune hydrops fetalis 32 HP:0001790
25 psychomotor retardation 32 HP:0025356

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
partial blindness (in some)
abnormal vep

Head And Neck Face:
micrognathia

Growth Other:
intrauterine growth retardation

Head And Neck Mouth:
thin lips

Abdomen Spleen:
splenomegaly (variable)

Head And Neck Nose:
small, turned-up nose

Abdomen Liver:
hepatomegaly (variable)

Laboratory Abnormalities:
isoelectric focusing of serum transferrin consistent with cdg type i
severely decreased activity of beta-1,4-mannosyltransferase (less than 10% of normal)

Head And Neck Head:
microcephaly
large fontanel

Neurologic Central Nervous System:
areflexia
cerebral atrophy
hypotonia
psychomotor retardation, severe
seizures, recurrent, refractory
more
Genitourinary External Genitalia Male:
hypogonadism

Skeletal:
contractures

Prenatal Manifestations Amniotic Fluid:
hydrops fetalis, nonimmune

Cardiovascular Heart:
cardiomyopathy (variable)

Genitourinary Kidneys:
nephrotic syndrome, congenital (in some patients)

Clinical features from OMIM:

608540

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type Ik

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

Genetic Tests for Congenital Disorder of Glycosylation, Type Ik

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

# Genetic test Affiliating Genes
1 Congenital Disorder of Glycosylation Type 1k 29 ALG1

Anatomical Context for Congenital Disorder of Glycosylation, Type Ik

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

41
Liver

Publications for Congenital Disorder of Glycosylation, Type Ik

Articles related to Congenital Disorder of Glycosylation, Type Ik:

# Title Authors PMID Year
1
Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik. 38 8 71
14709599 2004
2
Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik. 38 8 71
14973778 2004
3
Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I. 38 8 71
14973782 2004
4
Congenital nephrotic syndrome in an infant with ALG1-congenital disorder of glycosylation. 8 71
27325525 2016
5
Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations. 8 71
20679665 2010
6
Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature. 8
28108845 2017
7
Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview 71
20301507 2005
8
Recurrent nonimmune hydrops fetalis associated with carbohydrate-deficient glycoprotein syndrome. 8
9762608 1998

Variations for Congenital Disorder of Glycosylation, Type Ik

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

6 (show all 28)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ALG1 NM_019109.4(ALG1): c.1025A> C (p.Gln342Pro) single nucleotide variant Pathogenic rs267606651 16:5131010-5131010 16:5081009-5081009
2 ALG1 NM_019109.4(ALG1): c.450C> G (p.Ser150Arg) single nucleotide variant Pathogenic rs121908340 16:5125448-5125448 16:5075447-5075447
3 ALG1 NM_019109.4(ALG1): c.1129A> G (p.Met377Val) single nucleotide variant Pathogenic rs387906925 16:5132616-5132616 16:5082615-5082615
4 ALG1 NM_019109.4(ALG1): c.434G> A (p.Gly145Asp) single nucleotide variant Pathogenic rs387906926 16:5125432-5125432 16:5075431-5075431
5 ALG1 NM_019109.4(ALG1): c.1188T> A (p.Cys396Ter) single nucleotide variant Pathogenic rs387906927 16:5133683-5133683 16:5083682-5083682
6 ALG1 NM_019109.4(ALG1): c.1063del (p.Leu355fs) deletion Pathogenic 16:5131048-5131048 16:5081047-5081047
7 ALG1 NM_019109.4(ALG1): c.773C> T (p.Ser258Leu) single nucleotide variant Pathogenic/Likely pathogenic rs28939378 16:5128790-5128790 16:5078789-5078789
8 ALG1 NM_019109.4(ALG1): c.1250_1251insTG (p.Ala418fs) insertion Pathogenic/Likely pathogenic rs746019074 16:5133745-5133746 16:5083744-5083745
9 ALG1 NM_019109.4(ALG1): c.304C> T (p.Gln102Ter) single nucleotide variant Pathogenic/Likely pathogenic rs780107088 16:5123171-5123171 16:5073170-5073170
10 ALG1 NM_019109.4(ALG1): c.876C> G (p.Phe292Leu) single nucleotide variant Likely pathogenic rs1009298200 16:5129078-5129078 16:5079077-5079077
11 ALG1 NM_019109.4(ALG1): c.877T> C (p.Ser293Pro) single nucleotide variant Likely pathogenic rs1555452127 16:5129079-5129079 16:5079078-5079078
12 ALG1 NM_019109.4(ALG1): c.826C> T (p.Arg276Trp) single nucleotide variant Likely pathogenic rs151173406 16:5128843-5128843 16:5078842-5078842
13 ALG1 NM_019109.4(ALG1): c.[1187+3A> G] single nucleotide variant Likely pathogenic rs369160589 16:5132677-5132677 16:5082676-5082676
14 ALG1 NC_000016.9: g.(?_5130947)_(5147740_?)del deletion Likely pathogenic 16:5130947-5147740 16:5080946-5097739
15 ALG1 NM_019109.4(ALG1): c.863-2A> G single nucleotide variant Likely pathogenic 16:5129063-5129063 16:5079062-5079062
16 ALG1 NM_019109.4(ALG1): c.652C> T (p.Pro218Ser) single nucleotide variant Likely pathogenic 16:5127930-5127930 16:5077929-5077929
17 ALG1 NM_019109.4(ALG1): c.1342C> T (p.Arg448Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs1047747 16:5134829-5134829 16:5084828-5084828
18 ALG1 NM_019109.4(ALG1): c.827G> A (p.Arg276Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs201975029 16:5128844-5128844 16:5078843-5078843
19 ALG1 NM_019109.4(ALG1): c.1136T> G (p.Val379Gly) single nucleotide variant Uncertain significance rs1555452573 16:5132623-5132623 16:5082622-5082622
20 ALG1 NM_019109.4(ALG1): c.142C> T (p.Arg48Cys) single nucleotide variant Uncertain significance rs1051082443 16:5121992-5121992 16:5071991-5071991
21 ALG1 NM_019109.4(ALG1): c.604G> T (p.Asp202Tyr) single nucleotide variant Uncertain significance 16:5127510-5127510 16:5077509-5077509
22 ALG1 NM_019109.4(ALG1): c.766G> A (p.Glu256Lys) single nucleotide variant Uncertain significance 16:5128783-5128783 16:5078782-5078782
23 ALG1 NM_019109.4(ALG1): c.880A> C (p.Ile294Leu) single nucleotide variant Uncertain significance 16:5129082-5129082 16:5079081-5079081
24 ALG1 NM_019109.4(ALG1): c.191C> A (p.Thr64Asn) single nucleotide variant Likely benign rs145474820 16:5122041-5122041 16:5072040-5072040
25 ALG1 NM_019109.4(ALG1): c.554T> G (p.Phe185Cys) single nucleotide variant Benign/Likely benign rs112668461 16:5127460-5127460 16:5077459-5077459
26 ALG1 NM_019109.4(ALG1): c.800G> A (p.Ser267Asn) single nucleotide variant Benign/Likely benign rs17849848 16:5128817-5128817 16:5078816-5078816
27 ALG1 NM_019109.4(ALG1): c.840G> C (p.Leu280=) single nucleotide variant Benign rs12921879 16:5128857-5128857 16:5078856-5078856
28 ALG1 NM_019109.4(ALG1): c.334A> C (p.Met112Leu) single nucleotide variant Benign rs113219939 16:5123201-5123201 16:5073200-5073200

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

74 (show all 25)
# Symbol AA change Variation ID SNP ID
1 ALG1 p.Ser150Arg VAR_023364 rs121908340
2 ALG1 p.Ser258Leu VAR_023365 rs28939378
3 ALG1 p.Gln342Pro VAR_023366 rs267606651
4 ALG1 p.Arg438Trp VAR_049350 rs16835020
5 ALG1 p.Gln50Arg VAR_077187 rs794726944
6 ALG1 p.Ser71Phe VAR_077188 rs200605408
7 ALG1 p.His74Leu VAR_077189 rs201337379
8 ALG1 p.Leu88Val VAR_077190 rs794727301
9 ALG1 p.Pro98Leu VAR_077191
10 ALG1 p.Leu114Phe VAR_077192
11 ALG1 p.Ile209Ser VAR_077193
12 ALG1 p.Arg276Trp VAR_077194 rs151173406
13 ALG1 p.Val281Phe VAR_077195 rs553396382
14 ALG1 p.Asp289Gly VAR_077196 rs118051597
15 ALG1 p.Asp291Val VAR_077197 rs192564717
16 ALG1 p.Tyr353Asp VAR_077198
17 ALG1 p.Gly358Arg VAR_077199 rs886042742
18 ALG1 p.Ser359Leu VAR_077200 rs129977599
19 ALG1 p.Ala360Val VAR_077201 rs398124348
20 ALG1 p.Gly363Ala VAR_077202
21 ALG1 p.Leu366Gln VAR_077203
22 ALG1 p.His367Gln VAR_077204
23 ALG1 p.Met382Lys VAR_077205
24 ALG1 p.Gly384Arg VAR_077206 rs105752012
25 ALG1 p.Pro388Ser VAR_077207 rs398124349

Expression for Congenital Disorder of Glycosylation, Type Ik

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

Pathways for Congenital Disorder of Glycosylation, Type Ik

GO Terms for Congenital Disorder of Glycosylation, Type Ik

Sources for Congenital Disorder of Glycosylation, Type Ik

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58 OMIM via Orphanet
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69 SNOMED-CT via HPO
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73 UMLS via Orphanet
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