CDG1K
MCID: CNG192
MIFTS: 30

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 58 13
Cdg1k 58 60 76
Congenital Disorder of Glycosylation Type 1k 60 74
Congenital Disorder of Glycosylation Type Ik 60 76
Cdg Ik 58 76
Cdg-Ik 60 76
Cdgik 58 76
Carbohydrate Deficient Glycoprotein Syndrome Type Ik 60
Glycosylation, Congenital Disorder of, Type Ik 41
Congenital Disorder of Glycosylation 1k 76
Mannosyltransferase 1 Deficiency 60
Cdg Syndrome Type Ik 60
Cdg Ik; Cdgik 58
Alg1-Cdg 60

Characteristics:

Orphanet epidemiological data:

60
alg1-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood,infantile;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
congenital disorder of glycosylation, type ik:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Congenital Disorder of Glycosylation, Type Ik

OMIM : 58 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 cdg1k, 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

UniProtKB/Swiss-Prot : 76 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 Congenital Disorder of Glycosylation, Type Ii 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 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 11.3
2 congenital disorder of glycosylation, type in 10.4

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Ik

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

60 33 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0001250
2 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
3 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
4 nephropathy 60 33 frequent (33%) Frequent (79-30%) HP:0000112
5 hypertrophic cardiomyopathy 60 33 frequent (33%) Frequent (79-30%) HP:0001639
6 abnormality of immune system physiology 60 33 frequent (33%) Frequent (79-30%) HP:0010978
7 hypogonadism 60 33 frequent (33%) Frequent (79-30%) HP:0000135
8 hepatic failure 60 33 frequent (33%) Frequent (79-30%) HP:0001399
9 hypertelorism 33 HP:0000316
10 muscular hypotonia 33 HP:0001252
11 splenomegaly 33 HP:0001744
12 hepatomegaly 33 HP:0002240
13 flexion contracture 33 HP:0001371
14 micrognathia 33 HP:0000347
15 intrauterine growth retardation 33 HP:0001511
16 cardiomyopathy 33 HP:0001638
17 areflexia 33 HP:0001284
18 large fontanelles 33 HP:0000239
19 thin vermilion border 33 HP:0000233
20 generalized hypotonia 33 HP:0001290
21 cerebral atrophy 33 HP:0002059
22 type i transferrin isoform profile 33 HP:0003642
23 abnormality of the amniotic fluid 33 HP:0001560
24 nonimmune hydrops fetalis 33 HP:0001790

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
partial blindness (in some)
abnormal vep

Head And Neck Face:
micrognathia

Genitourinary External Genitalia Male:
hypogonadism

Head And Neck Mouth:
thin lips

Abdomen Spleen:
splenomegaly (variable)

Head And Neck Nose:
small, turned-up nose

Abdomen Liver:
hepatomegaly (variable)

Head And Neck Head:
microcephaly
large fontanelle

Growth Other:
intrauterine growth retardation

Neurologic Central Nervous System:
areflexia
cerebral atrophy
hypotonia
psychomotor retardation, severe
seizures, recurrent, refractory
more
Skeletal:
contractures

Prenatal Manifestations Amniotic Fluid:
hydrops fetalis, nonimmune

Cardiovascular Heart:
cardiomyopathy (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)

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

Anatomical Context for Congenital Disorder of Glycosylation, Type Ik

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

42
Liver

Publications for Congenital Disorder of Glycosylation, Type Ik

Articles related to Congenital Disorder of Glycosylation, Type Ik:

# Title Authors Year
1
Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I. ( 14973782 )
2004
2
Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik. ( 14973778 )
2004
3
Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik. ( 14709599 )
2004

Variations for Congenital Disorder of Glycosylation, Type Ik

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

76 (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

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

6 (show all 48)
# Gene Variation Type Significance SNP ID Assembly Location
1 ALG1 NM_019109.4(ALG1): c.800G> A (p.Ser267Asn) single nucleotide variant Benign/Likely benign rs17849848 GRCh37 Chromosome 16, 5128817: 5128817
2 ALG1 NM_019109.4(ALG1): c.800G> A (p.Ser267Asn) single nucleotide variant Benign/Likely benign rs17849848 GRCh38 Chromosome 16, 5078816: 5078816
3 ALG1 NM_019109.4(ALG1): c.149A> G (p.Gln50Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs794726944 GRCh37 Chromosome 16, 5121999: 5121999
4 ALG1 NM_019109.4(ALG1): c.149A> G (p.Gln50Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs794726944 GRCh38 Chromosome 16, 5071998: 5071998
5 ALG1 NM_019109.4(ALG1): c.191C> A (p.Thr64Asn) single nucleotide variant Likely benign rs145474820 GRCh37 Chromosome 16, 5122041: 5122041
6 ALG1 NM_019109.4(ALG1): c.191C> A (p.Thr64Asn) single nucleotide variant Likely benign rs145474820 GRCh38 Chromosome 16, 5072040: 5072040
7 ALG1 NM_019109.4(ALG1): c.773C> T (p.Ser258Leu) single nucleotide variant Pathogenic/Likely pathogenic rs28939378 GRCh37 Chromosome 16, 5128790: 5128790
8 ALG1 NM_019109.4(ALG1): c.773C> T (p.Ser258Leu) single nucleotide variant Pathogenic/Likely pathogenic rs28939378 GRCh38 Chromosome 16, 5078789: 5078789
9 ALG1 NM_019109.4(ALG1): c.1025A> C (p.Gln342Pro) single nucleotide variant Pathogenic rs267606651 GRCh37 Chromosome 16, 5131010: 5131010
10 ALG1 NM_019109.4(ALG1): c.1025A> C (p.Gln342Pro) single nucleotide variant Pathogenic rs267606651 GRCh38 Chromosome 16, 5081009: 5081009
11 ALG1 NM_019109.4(ALG1): c.450C> G (p.Ser150Arg) single nucleotide variant Pathogenic rs121908340 GRCh37 Chromosome 16, 5125448: 5125448
12 ALG1 NM_019109.4(ALG1): c.450C> G (p.Ser150Arg) single nucleotide variant Pathogenic rs121908340 GRCh38 Chromosome 16, 5075447: 5075447
13 ALG1 NM_019109.4(ALG1): c.1129A> G (p.Met377Val) single nucleotide variant Pathogenic rs387906925 GRCh37 Chromosome 16, 5132616: 5132616
14 ALG1 NM_019109.4(ALG1): c.1129A> G (p.Met377Val) single nucleotide variant Pathogenic rs387906925 GRCh38 Chromosome 16, 5082615: 5082615
15 ALG1 NM_019109.4(ALG1): c.434G> A (p.Gly145Asp) single nucleotide variant Pathogenic rs387906926 GRCh37 Chromosome 16, 5125432: 5125432
16 ALG1 NM_019109.4(ALG1): c.434G> A (p.Gly145Asp) single nucleotide variant Pathogenic rs387906926 GRCh38 Chromosome 16, 5075431: 5075431
17 ALG1 NM_019109.4(ALG1): c.1188T> A (p.Cys396Ter) single nucleotide variant Pathogenic rs387906927 GRCh37 Chromosome 16, 5133683: 5133683
18 ALG1 NM_019109.4(ALG1): c.1188T> A (p.Cys396Ter) single nucleotide variant Pathogenic rs387906927 GRCh38 Chromosome 16, 5083682: 5083682
19 ALG1 NM_019109.4(ALG1): c.826C> T (p.Arg276Trp) single nucleotide variant Likely pathogenic rs151173406 GRCh37 Chromosome 16, 5128843: 5128843
20 ALG1 NM_019109.4(ALG1): c.826C> T (p.Arg276Trp) single nucleotide variant Likely pathogenic rs151173406 GRCh38 Chromosome 16, 5078842: 5078842
21 ALG1 NM_019109.4(ALG1): c.840G> C (p.Leu280=) single nucleotide variant Benign rs12921879 GRCh37 Chromosome 16, 5128857: 5128857
22 ALG1 NM_019109.4(ALG1): c.840G> C (p.Leu280=) single nucleotide variant Benign rs12921879 GRCh38 Chromosome 16, 5078856: 5078856
23 ALG1 NM_019109.4(ALG1): c.1187+3A> G single nucleotide variant Likely pathogenic rs369160589 GRCh37 Chromosome 16, 5132677: 5132677
24 ALG1 NM_019109.4(ALG1): c.1187+3A> G single nucleotide variant Likely pathogenic rs369160589 GRCh38 Chromosome 16, 5082676: 5082676
25 ALG1 NM_019109.4(ALG1): c.554T> G (p.Phe185Cys) single nucleotide variant Benign/Likely benign rs112668461 GRCh37 Chromosome 16, 5127460: 5127460
26 ALG1 NM_019109.4(ALG1): c.554T> G (p.Phe185Cys) single nucleotide variant Benign/Likely benign rs112668461 GRCh38 Chromosome 16, 5077459: 5077459
27 ALG1 NM_019109.4(ALG1): c.334A> C (p.Met112Leu) single nucleotide variant Benign rs113219939 GRCh37 Chromosome 16, 5123201: 5123201
28 ALG1 NM_019109.4(ALG1): c.334A> C (p.Met112Leu) single nucleotide variant Benign rs113219939 GRCh38 Chromosome 16, 5073200: 5073200
29 ALG1 NM_019109.4(ALG1): c.1250_1251insTG (p.Ala418Glufs) insertion Pathogenic/Likely pathogenic rs746019074 GRCh37 Chromosome 16, 5133745: 5133746
30 ALG1 NM_019109.4(ALG1): c.1250_1251insTG (p.Ala418Glufs) insertion Pathogenic/Likely pathogenic rs746019074 GRCh38 Chromosome 16, 5083744: 5083745
31 ALG1 NM_019109.4(ALG1): c.1136T> G (p.Val379Gly) single nucleotide variant Uncertain significance rs1555452573 GRCh37 Chromosome 16, 5132623: 5132623
32 ALG1 NM_019109.4(ALG1): c.1136T> G (p.Val379Gly) single nucleotide variant Uncertain significance rs1555452573 GRCh38 Chromosome 16, 5082622: 5082622
33 ALG1 NM_019109.4(ALG1): c.142C> T (p.Arg48Cys) single nucleotide variant Uncertain significance rs1051082443 GRCh38 Chromosome 16, 5071991: 5071991
34 ALG1 NM_019109.4(ALG1): c.142C> T (p.Arg48Cys) single nucleotide variant Uncertain significance rs1051082443 GRCh37 Chromosome 16, 5121992: 5121992
35 ALG1 NM_019109.4(ALG1): c.827G> A (p.Arg276Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs201975029 GRCh38 Chromosome 16, 5078843: 5078843
36 ALG1 NM_019109.4(ALG1): c.827G> A (p.Arg276Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs201975029 GRCh37 Chromosome 16, 5128844: 5128844
37 ALG1 NM_019109.4(ALG1): c.876C> G (p.Phe292Leu) single nucleotide variant Likely pathogenic rs1009298200 GRCh37 Chromosome 16, 5129078: 5129078
38 ALG1 NM_019109.4(ALG1): c.876C> G (p.Phe292Leu) single nucleotide variant Likely pathogenic rs1009298200 GRCh38 Chromosome 16, 5079077: 5079077
39 ALG1 NM_019109.4(ALG1): c.877T> C (p.Ser293Pro) single nucleotide variant Likely pathogenic rs1555452127 GRCh37 Chromosome 16, 5129079: 5129079
40 ALG1 NM_019109.4(ALG1): c.877T> C (p.Ser293Pro) single nucleotide variant Likely pathogenic rs1555452127 GRCh38 Chromosome 16, 5079078: 5079078
41 ALG1 NC_000016.10: g.(?_5080946)_(5097739_?)del deletion Likely pathogenic GRCh38 Chromosome 16, 5080946: 5097739
42 ALG1 NC_000016.10: g.(?_5080946)_(5097739_?)del deletion Likely pathogenic GRCh37 Chromosome 16, 5130947: 5147740
43 ALG1 NM_019109.4(ALG1): c.880A> C (p.Ile294Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 5129082: 5129082
44 ALG1 NM_019109.4(ALG1): c.880A> C (p.Ile294Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 5079081: 5079081
45 ALG1 NM_019109.4(ALG1): c.863-2A> G single nucleotide variant Likely pathogenic GRCh37 Chromosome 16, 5129063: 5129063
46 ALG1 NM_019109.4(ALG1): c.863-2A> G single nucleotide variant Likely pathogenic GRCh38 Chromosome 16, 5079062: 5079062
47 ALG1 NM_019109.4(ALG1): c.652C> T (p.Pro218Ser) single nucleotide variant Likely pathogenic GRCh38 Chromosome 16, 5077929: 5077929
48 ALG1 NM_019109.4(ALG1): c.652C> T (p.Pro218Ser) single nucleotide variant Likely pathogenic GRCh37 Chromosome 16, 5127930: 5127930

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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