MCID: CNG199
MIFTS: 30

Congenital Disorder of Glycosylation, Type Im

Categories: Genetic diseases, Skin diseases, Metabolic diseases, Rare diseases, Neuronal diseases, Liver diseases, Cardiovascular diseases, Fetal diseases, Mental diseases, Blood diseases, Gastrointestinal diseases, Nephrological diseases, Ear diseases, Bone diseases, Muscle diseases, Endocrine 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 57 13 73
Congenital Disorder of Glycosylation Type 1m 59 29 6
Dolichol Kinase Deficiency 57 59 75
Cdg1m 57 59 75
Congenital Disorder of Glycosylation Type Im 59 75
Dk1 Deficiency 57 75
Cdg Im 57 75
Cdg-Im 59 75
Cdgim 57 75
Hypotonia and Ichthyosis Due to Dolichol Phosphate Deficiency 59
Carbohydrate Deficient Glycoprotein Syndrome Type Im 59
Glycosylation, Congenital Disorder of, Type Im 40
Congenital Disorder of Glycosylation 1m 75
Cdg Syndrome Type Im 59
Cdg Im; Cdgim 57
Dk1-Cdg 59

Characteristics:

Orphanet epidemiological data:

59
dk1-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
congenital disorder of glycosylation, type im:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Congenital Disorder of Glycosylation, Type Im

UniProtKB/Swiss-Prot : 75 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 congenital disorder of glycosylation, type in. An important gene associated with Congenital Disorder of Glycosylation, Type Im is DOLK (Dolichol Kinase). Affiliated tissues include skin, and related phenotypes are dry skin and splenomegaly

Description from OMIM: 610768

Related Diseases for Congenital Disorder of Glycosylation, Type Im

Diseases in the Congenital Disorder of Glycosylation, Type in 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 Iq
Congenital Disorder of Glycosylation, Type Io 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 11.9
2 congenital disorder of glycosylation, type in 9.9
3 dilated cardiomyopathy 9.9

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Im

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dry skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000958
2 splenomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0001744
3 abnormality of coagulation 59 32 frequent (33%) Frequent (79-30%) HP:0001928
4 cerebral cortical atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0002120
5 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
6 congenital hepatic fibrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002612
7 elevated hepatic transaminases 59 32 occasional (7.5%) Occasional (29-5%) HP:0002910
8 myalgia 59 32 frequent (33%) Frequent (79-30%) HP:0003326
9 aplasia/hypoplasia of the nipples 59 32 hallmark (90%) Very frequent (99-80%) HP:0006709
10 ichthyosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008064
11 adactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0009776
12 cognitive impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0100543
13 lipoatrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0100578
14 sparse and thin eyebrow 32 HP:0000535
15 sparse eyelashes 32 HP:0000653
16 seizures 32 HP:0001250
17 muscular hypotonia 32 occasional (7.5%) HP:0001252
18 failure to thrive 32 HP:0001508
19 dilated cardiomyopathy 32 HP:0001644
20 hypoketotic hypoglycemia 32 HP:0001985
21 hypsarrhythmia 32 HP:0002521
22 abnormal isoelectric focusing of serum transferrin 32 HP:0003160
23 postnatal microcephaly 32 HP:0005484

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 29 DOLK

Anatomical Context for Congenital Disorder of Glycosylation, Type Im

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

41
Skin

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

Variations for Congenital Disorder of Glycosylation, Type Im

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

75
# 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 96)
# 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 DOLK, TRP304CYS single nucleotide variant Pathogenic
8 DOLK DOLK, MET1ILE single nucleotide variant Pathogenic
9 DOLK NM_014908.3(DOLK): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs587777137 GRCh37 Chromosome 9, 131709581: 131709581
10 DOLK NM_014908.3(DOLK): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs587777137 GRCh38 Chromosome 9, 128947302: 128947302
11 DOLK NM_014908.3(DOLK): c.1447C> A (p.Gln483Lys) single nucleotide variant Pathogenic rs727503904 GRCh37 Chromosome 9, 131708136: 131708136
12 DOLK NM_014908.3(DOLK): c.1447C> A (p.Gln483Lys) single nucleotide variant Pathogenic rs727503904 GRCh38 Chromosome 9, 128945857: 128945857
13 DOLK NM_014908.3(DOLK): c.1dupA (p.Met1Asnfs) duplication Benign/Likely benign rs531969689 GRCh37 Chromosome 9, 131709582: 131709582
14 DOLK NM_014908.3(DOLK): c.1dupA (p.Met1Asnfs) duplication Benign/Likely benign rs531969689 GRCh38 Chromosome 9, 128947303: 128947303
15 DOLK NM_014908.3(DOLK): c.1450A> G (p.Ile484Val) single nucleotide variant Benign rs147630977 GRCh37 Chromosome 9, 131708133: 131708133
16 DOLK NM_014908.3(DOLK): c.1450A> G (p.Ile484Val) single nucleotide variant Benign rs147630977 GRCh38 Chromosome 9, 128945854: 128945854
17 DOLK NM_014908.3(DOLK): c.1394G> A (p.Arg465His) single nucleotide variant Conflicting interpretations of pathogenicity rs148930043 GRCh38 Chromosome 9, 128945910: 128945910
18 DOLK NM_014908.3(DOLK): c.1394G> A (p.Arg465His) single nucleotide variant Conflicting interpretations of pathogenicity rs148930043 GRCh37 Chromosome 9, 131708189: 131708189
19 DOLK NM_014908.3(DOLK): c.1314C> T (p.Leu438=) single nucleotide variant Conflicting interpretations of pathogenicity rs148118523 GRCh38 Chromosome 9, 128945990: 128945990
20 DOLK NM_014908.3(DOLK): c.1314C> T (p.Leu438=) single nucleotide variant Conflicting interpretations of pathogenicity rs148118523 GRCh37 Chromosome 9, 131708269: 131708269
21 DOLK NM_014908.3(DOLK): c.1286A> G (p.Lys429Arg) single nucleotide variant Likely benign rs574562542 GRCh37 Chromosome 9, 131708297: 131708297
22 DOLK NM_014908.3(DOLK): c.1286A> G (p.Lys429Arg) single nucleotide variant Likely benign rs574562542 GRCh38 Chromosome 9, 128946018: 128946018
23 DOLK NM_014908.3(DOLK): c.1079A> G (p.Tyr360Cys) single nucleotide variant Likely benign rs138453255 GRCh37 Chromosome 9, 131708504: 131708504
24 DOLK NM_014908.3(DOLK): c.1079A> G (p.Tyr360Cys) single nucleotide variant Likely benign rs138453255 GRCh38 Chromosome 9, 128946225: 128946225
25 DOLK NM_014908.3(DOLK): c.725G> A (p.Ser242Asn) single nucleotide variant Uncertain significance rs876657786 GRCh37 Chromosome 9, 131708858: 131708858
26 DOLK NM_014908.3(DOLK): c.725G> A (p.Ser242Asn) single nucleotide variant Uncertain significance rs876657786 GRCh38 Chromosome 9, 128946579: 128946579
27 DOLK NM_014908.3(DOLK): c.671A> T (p.Asp224Val) single nucleotide variant Conflicting interpretations of pathogenicity rs17485436 GRCh37 Chromosome 9, 131708912: 131708912
28 DOLK NM_014908.3(DOLK): c.671A> T (p.Asp224Val) single nucleotide variant Conflicting interpretations of pathogenicity rs17485436 GRCh38 Chromosome 9, 128946633: 128946633
29 DOLK NM_014908.3(DOLK): c.633C> T (p.Arg211=) single nucleotide variant Conflicting interpretations of pathogenicity rs147647278 GRCh37 Chromosome 9, 131708950: 131708950
30 DOLK NM_014908.3(DOLK): c.633C> T (p.Arg211=) single nucleotide variant Conflicting interpretations of pathogenicity rs147647278 GRCh38 Chromosome 9, 128946671: 128946671
31 DOLK NM_014908.3(DOLK): c.1446G> A (p.Ala482=) single nucleotide variant Conflicting interpretations of pathogenicity rs201027607 GRCh37 Chromosome 9, 131708137: 131708137
32 DOLK NM_014908.3(DOLK): c.1446G> A (p.Ala482=) single nucleotide variant Conflicting interpretations of pathogenicity rs201027607 GRCh38 Chromosome 9, 128945858: 128945858
33 DOLK NM_014908.3(DOLK): c.579G> A (p.Glu193=) single nucleotide variant Conflicting interpretations of pathogenicity rs28365522 GRCh37 Chromosome 9, 131709004: 131709004
34 DOLK NM_014908.3(DOLK): c.579G> A (p.Glu193=) single nucleotide variant Conflicting interpretations of pathogenicity rs28365522 GRCh38 Chromosome 9, 128946725: 128946725
35 DOLK NM_014908.3(DOLK): c.771C> T (p.Ile257=) single nucleotide variant Benign/Likely benign rs147416890 GRCh37 Chromosome 9, 131708812: 131708812
36 DOLK NM_014908.3(DOLK): c.771C> T (p.Ile257=) single nucleotide variant Benign/Likely benign rs147416890 GRCh38 Chromosome 9, 128946533: 128946533
37 DOLK NM_014908.3(DOLK): c.898C> T (p.Leu300Phe) single nucleotide variant Uncertain significance rs371529625 GRCh37 Chromosome 9, 131708685: 131708685
38 DOLK NM_014908.3(DOLK): c.898C> T (p.Leu300Phe) single nucleotide variant Uncertain significance rs371529625 GRCh38 Chromosome 9, 128946406: 128946406
39 DOLK NM_014908.3(DOLK): c.525T> G (p.Val175=) single nucleotide variant Likely benign rs200278288 GRCh38 Chromosome 9, 128946779: 128946779
40 DOLK NM_014908.3(DOLK): c.525T> G (p.Val175=) single nucleotide variant Likely benign rs200278288 GRCh37 Chromosome 9, 131709058: 131709058
41 DOLK NM_014908.3(DOLK): c.1114T> A (p.Phe372Ile) single nucleotide variant Uncertain significance rs146395561 GRCh37 Chromosome 9, 131708469: 131708469
42 DOLK NM_014908.3(DOLK): c.1114T> A (p.Phe372Ile) single nucleotide variant Uncertain significance rs146395561 GRCh38 Chromosome 9, 128946190: 128946190
43 DOLK NM_014908.3(DOLK): c.159C> G (p.Ala53=) single nucleotide variant Likely benign rs199857223 GRCh37 Chromosome 9, 131709424: 131709424
44 DOLK NM_014908.3(DOLK): c.159C> G (p.Ala53=) single nucleotide variant Likely benign rs199857223 GRCh38 Chromosome 9, 128947145: 128947145
45 DOLK NM_014908.3(DOLK): c.1481A> G (p.Asp494Gly) single nucleotide variant Benign/Likely benign rs145292760 GRCh38 Chromosome 9, 128945823: 128945823
46 DOLK NM_014908.3(DOLK): c.1481A> G (p.Asp494Gly) single nucleotide variant Benign/Likely benign rs145292760 GRCh37 Chromosome 9, 131708102: 131708102
47 DOLK NM_014908.3(DOLK): c.611T> C (p.Val204Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 9, 131708972: 131708972
48 DOLK NM_014908.3(DOLK): c.611T> C (p.Val204Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 9, 128946693: 128946693
49 DOLK NM_014908.3(DOLK): c.407T> C (p.Val136Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 9, 131709176: 131709176
50 DOLK NM_014908.3(DOLK): c.407T> C (p.Val136Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 9, 128946897: 128946897

Expression for Congenital Disorder of Glycosylation, Type Im

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

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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