CDG1M
MCID: CNG199
MIFTS: 32

Congenital Disorder of Glycosylation, Type Im (CDG1M)

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 Im

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

Name: Congenital Disorder of Glycosylation, Type Im 58 13 74
Congenital Disorder of Glycosylation Type 1m 60 30 6
Dolichol Kinase Deficiency 58 60 76
Cdg1m 58 60 76
Congenital Disorder of Glycosylation Type Im 60 76
Dk1 Deficiency 58 76
Cdg Im 58 76
Cdg-Im 60 76
Cdgim 58 76
Hypotonia and Ichthyosis Due to Dolichol Phosphate Deficiency 60
Carbohydrate Deficient Glycoprotein Syndrome Type Im 60
Glycosylation, Congenital Disorder of, Type Im 41
Congenital Disorder of Glycosylation 1m 76
Cdg Syndrome Type Im 60
Cdg Im; Cdgim 58
Dk1-Cdg 60

Characteristics:

Orphanet epidemiological data:

60
dk1-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
death in early infancy (in some patients)
some patients present with apparent nonsyndromic dilated cardiomyopathy in early childhood


HPO:

33
congenital disorder of glycosylation, type im:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Congenital Disorder of Glycosylation, Type Im

UniProtKB/Swiss-Prot : 76 Congenital disorder of glycosylation 1M: 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. CDG1M is a very severe disease with death occurring in early life.

MalaCards based summary : Congenital Disorder of Glycosylation, Type Im, also known as congenital disorder of glycosylation type 1m, is related to dolk-congenital disorder of glycosylation and dilated cardiomyopathy. An important gene associated with Congenital Disorder of Glycosylation, Type Im is DOLK (Dolichol Kinase). Affiliated tissues include skin, liver and bone, and related phenotypes are ichthyosis and cognitive impairment

Description from OMIM: 610768

Related Diseases for Congenital Disorder of Glycosylation, Type Im

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

# Related Disease Score Top Affiliating Genes
1 dolk-congenital disorder of glycosylation 12.1
2 dilated cardiomyopathy 10.0

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Im

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

60 33 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ichthyosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0008064
2 cognitive impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0100543
3 lipoatrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0100578
4 dry skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000958
5 aplasia/hypoplasia of the nipples 60 33 hallmark (90%) Very frequent (99-80%) HP:0006709
6 splenomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0001744
7 hepatomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0002240
8 cerebral cortical atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0002120
9 myalgia 60 33 frequent (33%) Frequent (79-30%) HP:0003326
10 abnormality of coagulation 60 33 frequent (33%) Frequent (79-30%) HP:0001928
11 elevated hepatic transaminase 60 33 occasional (7.5%) Occasional (29-5%) HP:0002910
12 congenital hepatic fibrosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002612
13 adactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0009776
14 muscular hypotonia 33 occasional (7.5%) HP:0001252
15 seizures 33 HP:0001250
16 failure to thrive 33 HP:0001508
17 dilated cardiomyopathy 33 HP:0001644
18 hypsarrhythmia 33 HP:0002521
19 sparse eyelashes 33 HP:0000653
20 postnatal microcephaly 33 HP:0005484
21 hypoketotic hypoglycemia 33 HP:0001985
22 abnormal isoelectric focusing of serum transferrin 33 HP:0003160
23 sparse and thin eyebrow 33 HP:0000535

Symptoms via clinical synopsis from OMIM:

58
Growth Other:
failure to thrive

Cardiovascular Heart:
dilated cardiomyopathy

Skin Nails Hair Hair:
sparse eyelashes
sparse eyebrows
minimal hair growth

Growth Height:
normal birth length

Head And Neck Head:
normal birth head circumference
microcephaly, acquired

Laboratory Abnormalities:
abnormal transferrin isoelectric focusing (ief)
increased disialo- and asialotransferrin
decreased lipid-linked oligosaccharides (llo)

Skin Nails Hair Skin:
ichthyosis

Head And Neck Eyes:
sparse eyelashes
sparse eyebrows

Growth Weight:
normal birth weight

Neurologic Central Nervous System:
seizures (in some patients)
hypsarrhythmia (in some patients)
hypotonia, profound muscular (in some patients)

Metabolic Features:
hypoketotic hypoglycemia (in some patients)

Clinical features from OMIM:

610768

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type Im

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

Genetic Tests for Congenital Disorder of Glycosylation, Type Im

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

# Genetic test Affiliating Genes
1 Congenital Disorder of Glycosylation Type 1m 30 DOLK

Anatomical Context for Congenital Disorder of Glycosylation, Type Im

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

42
Skin, Liver, Bone, Eye

Publications for Congenital Disorder of Glycosylation, Type Im

Articles related to Congenital Disorder of Glycosylation, Type Im:

# Title Authors Year
1
Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion of phenotype. ( 28816422 )
2017
2
From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG). ( 22327749 )
2013
3
Dolichol kinase deficiency (DOLK-CDG) with a purely neurological presentation caused by a novel mutation. ( 23890587 )
2013
4
Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation. ( 22242004 )
2011
5
A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy. ( 17273964 )
2007

Variations for Congenital Disorder of Glycosylation, Type Im

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

76
# Symbol AA change Variation ID SNP ID
1 DOLK p.Cys99Ser VAR_032851 rs137853109
2 DOLK p.Tyr441Ser VAR_032852 rs137853110

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

6 (show top 50) (show all 128)
# Gene Variation Type Significance SNP ID Assembly Location
1 DOLK NM_014908.3(DOLK): c.295T> A (p.Cys99Ser) single nucleotide variant Pathogenic rs137853109 GRCh37 Chromosome 9, 131709288: 131709288
2 DOLK NM_014908.3(DOLK): c.295T> A (p.Cys99Ser) single nucleotide variant Pathogenic rs137853109 GRCh38 Chromosome 9, 128947009: 128947009
3 DOLK NM_014908.3(DOLK): c.1322A> C (p.Tyr441Ser) single nucleotide variant Pathogenic rs137853110 GRCh37 Chromosome 9, 131708261: 131708261
4 DOLK NM_014908.3(DOLK): c.1322A> C (p.Tyr441Ser) single nucleotide variant Pathogenic rs137853110 GRCh38 Chromosome 9, 128945982: 128945982
5 DOLK NM_014908.3(DOLK): c.1222C> G (p.His408Asp) single nucleotide variant Pathogenic rs387907030 GRCh37 Chromosome 9, 131708361: 131708361
6 DOLK NM_014908.3(DOLK): c.1222C> G (p.His408Asp) single nucleotide variant Pathogenic rs387907030 GRCh38 Chromosome 9, 128946082: 128946082
7 DOLK NM_014908.3(DOLK): c.912G> T (p.Trp304Cys) single nucleotide variant Pathogenic GRCh38 Chromosome 9, 128946392: 128946392
8 DOLK NM_014908.3(DOLK): c.912G> T (p.Trp304Cys) single nucleotide variant Pathogenic GRCh37 Chromosome 9, 131708671: 131708671
9 DOLK NM_014908.3(DOLK): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic GRCh37 Chromosome 9, 131709580: 131709580
10 DOLK NM_014908.3(DOLK): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic GRCh38 Chromosome 9, 128947301: 128947301
11 DOLK NM_014908.3(DOLK): c.186G> A (p.Arg62=) single nucleotide variant Conflicting interpretations of pathogenicity rs148171062 GRCh37 Chromosome 9, 131709397: 131709397
12 DOLK NM_014908.3(DOLK): c.186G> A (p.Arg62=) single nucleotide variant Conflicting interpretations of pathogenicity rs148171062 GRCh38 Chromosome 9, 128947118: 128947118
13 DOLK NM_014908.3(DOLK): c.631C> T (p.Arg211Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs145310298 GRCh37 Chromosome 9, 131708952: 131708952
14 DOLK NM_014908.3(DOLK): c.631C> T (p.Arg211Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs145310298 GRCh38 Chromosome 9, 128946673: 128946673
15 DOLK NM_014908.3(DOLK): c.700A> G (p.Met234Val) single nucleotide variant Uncertain significance rs139787271 GRCh37 Chromosome 9, 131708883: 131708883
16 DOLK NM_014908.3(DOLK): c.700A> G (p.Met234Val) single nucleotide variant Uncertain significance rs139787271 GRCh38 Chromosome 9, 128946604: 128946604
17 DOLK NM_014908.3(DOLK): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs587777137 GRCh37 Chromosome 9, 131709581: 131709581
18 DOLK NM_014908.3(DOLK): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs587777137 GRCh38 Chromosome 9, 128947302: 128947302
19 DOLK NM_014908.3(DOLK): c.1447C> A (p.Gln483Lys) single nucleotide variant Pathogenic rs727503904 GRCh37 Chromosome 9, 131708136: 131708136
20 DOLK NM_014908.3(DOLK): c.1447C> A (p.Gln483Lys) single nucleotide variant Pathogenic rs727503904 GRCh38 Chromosome 9, 128945857: 128945857
21 DOLK NM_014908.3(DOLK): c.1dupA (p.Met1Asnfs) duplication Benign/Likely benign rs531969689 GRCh37 Chromosome 9, 131709582: 131709582
22 DOLK NM_014908.3(DOLK): c.1dupA (p.Met1Asnfs) duplication Benign/Likely benign rs531969689 GRCh38 Chromosome 9, 128947303: 128947303
23 DOLK NM_014908.3(DOLK): c.1450A> G (p.Ile484Val) single nucleotide variant Benign rs147630977 GRCh37 Chromosome 9, 131708133: 131708133
24 DOLK NM_014908.3(DOLK): c.1450A> G (p.Ile484Val) single nucleotide variant Benign rs147630977 GRCh38 Chromosome 9, 128945854: 128945854
25 DOLK NM_014908.3(DOLK): c.1394G> A (p.Arg465His) single nucleotide variant Conflicting interpretations of pathogenicity rs148930043 GRCh38 Chromosome 9, 128945910: 128945910
26 DOLK NM_014908.3(DOLK): c.1394G> A (p.Arg465His) single nucleotide variant Conflicting interpretations of pathogenicity rs148930043 GRCh37 Chromosome 9, 131708189: 131708189
27 DOLK NM_014908.3(DOLK): c.1314C> T (p.Leu438=) single nucleotide variant Conflicting interpretations of pathogenicity rs148118523 GRCh38 Chromosome 9, 128945990: 128945990
28 DOLK NM_014908.3(DOLK): c.1314C> T (p.Leu438=) single nucleotide variant Conflicting interpretations of pathogenicity rs148118523 GRCh37 Chromosome 9, 131708269: 131708269
29 DOLK NM_014908.3(DOLK): c.1286A> G (p.Lys429Arg) single nucleotide variant Likely benign rs574562542 GRCh37 Chromosome 9, 131708297: 131708297
30 DOLK NM_014908.3(DOLK): c.1286A> G (p.Lys429Arg) single nucleotide variant Likely benign rs574562542 GRCh38 Chromosome 9, 128946018: 128946018
31 DOLK NM_014908.3(DOLK): c.1079A> G (p.Tyr360Cys) single nucleotide variant Likely benign rs138453255 GRCh37 Chromosome 9, 131708504: 131708504
32 DOLK NM_014908.3(DOLK): c.1079A> G (p.Tyr360Cys) single nucleotide variant Likely benign rs138453255 GRCh38 Chromosome 9, 128946225: 128946225
33 DOLK NM_014908.3(DOLK): c.725G> A (p.Ser242Asn) single nucleotide variant Uncertain significance rs876657786 GRCh37 Chromosome 9, 131708858: 131708858
34 DOLK NM_014908.3(DOLK): c.725G> A (p.Ser242Asn) single nucleotide variant Uncertain significance rs876657786 GRCh38 Chromosome 9, 128946579: 128946579
35 DOLK NM_014908.3(DOLK): c.671A> T (p.Asp224Val) single nucleotide variant Conflicting interpretations of pathogenicity rs17485436 GRCh37 Chromosome 9, 131708912: 131708912
36 DOLK NM_014908.3(DOLK): c.671A> T (p.Asp224Val) single nucleotide variant Conflicting interpretations of pathogenicity rs17485436 GRCh38 Chromosome 9, 128946633: 128946633
37 DOLK NM_014908.3(DOLK): c.633C> T (p.Arg211=) single nucleotide variant Conflicting interpretations of pathogenicity rs147647278 GRCh37 Chromosome 9, 131708950: 131708950
38 DOLK NM_014908.3(DOLK): c.633C> T (p.Arg211=) single nucleotide variant Conflicting interpretations of pathogenicity rs147647278 GRCh38 Chromosome 9, 128946671: 128946671
39 DOLK NM_014908.3(DOLK): c.1446G> A (p.Ala482=) single nucleotide variant Conflicting interpretations of pathogenicity rs201027607 GRCh37 Chromosome 9, 131708137: 131708137
40 DOLK NM_014908.3(DOLK): c.1446G> A (p.Ala482=) single nucleotide variant Conflicting interpretations of pathogenicity rs201027607 GRCh38 Chromosome 9, 128945858: 128945858
41 DOLK NM_014908.3(DOLK): c.579G> A (p.Glu193=) single nucleotide variant Conflicting interpretations of pathogenicity rs28365522 GRCh37 Chromosome 9, 131709004: 131709004
42 DOLK NM_014908.3(DOLK): c.579G> A (p.Glu193=) single nucleotide variant Conflicting interpretations of pathogenicity rs28365522 GRCh38 Chromosome 9, 128946725: 128946725
43 DOLK NM_014908.3(DOLK): c.771C> T (p.Ile257=) single nucleotide variant Benign/Likely benign rs147416890 GRCh37 Chromosome 9, 131708812: 131708812
44 DOLK NM_014908.3(DOLK): c.771C> T (p.Ile257=) single nucleotide variant Benign/Likely benign rs147416890 GRCh38 Chromosome 9, 128946533: 128946533
45 DOLK NM_014908.3(DOLK): c.898C> T (p.Leu300Phe) single nucleotide variant Uncertain significance rs371529625 GRCh37 Chromosome 9, 131708685: 131708685
46 DOLK NM_014908.3(DOLK): c.898C> T (p.Leu300Phe) single nucleotide variant Uncertain significance rs371529625 GRCh38 Chromosome 9, 128946406: 128946406
47 DOLK NM_014908.3(DOLK): c.525T> G (p.Val175=) single nucleotide variant Likely benign rs200278288 GRCh37 Chromosome 9, 131709058: 131709058
48 DOLK NM_014908.3(DOLK): c.525T> G (p.Val175=) single nucleotide variant Likely benign rs200278288 GRCh38 Chromosome 9, 128946779: 128946779
49 DOLK NM_014908.3(DOLK): c.1114T> A (p.Phe372Ile) single nucleotide variant Uncertain significance rs146395561 GRCh37 Chromosome 9, 131708469: 131708469
50 DOLK NM_014908.3(DOLK): c.1114T> A (p.Phe372Ile) single nucleotide variant Uncertain significance rs146395561 GRCh38 Chromosome 9, 128946190: 128946190

Expression for Congenital Disorder of Glycosylation, Type Im

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Pathways for Congenital Disorder of Glycosylation, Type Im

GO Terms for Congenital Disorder of Glycosylation, Type Im

Sources for Congenital Disorder of Glycosylation, Type Im

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