CDG1D
MCID: CNG195
MIFTS: 33

Congenital Disorder of Glycosylation, Type Id (CDG1D)

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 Id

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

Name: Congenital Disorder of Glycosylation, Type Id 57 13 73
Congenital Disorder of Glycosylation Type 1d 59 29 6
Cdg1d 57 59 75
Carbohydrate-Deficient Glycoprotein Syndrome, Type Iv, Formerly; Cdgs4, Formerly 57
Carbohydrate-Deficient Glycoprotein Syndrome, Type Iv, Formerly 57
Carbohydrate Deficient Glycoprotein Syndrome Type Id 59
Carbohydrate-Deficient Glycoprotein Syndrome Type Iv 75
Glycosylation, Congenital Disorder of, Type Id 40
Congenital Disorder of Glycosylation Type Id 59
Congenital Disorder of Glycosylation 1d 75
Mannosyltransferase 6 Deficiency 59
Cdgs, Type Iv, Formerly 57
Cdg Syndrome Type Id 59
Cdgs4, Formerly 57
Cdg Id; Cdgid 57
Alg3-Cdg 59
Cdg Id 57
Cdg-Id 59
Cdgid 57
Cdgs4 75

Characteristics:

Orphanet epidemiological data:

59
alg3-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
congenital disorder of glycosylation, type id:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Congenital Disorder of Glycosylation, Type Id

OMIM : 57 Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of autosomal recessive disorders caused by enzymatic defects in the synthesis and processing of asparagine (N)-linked glycans or oligosaccharides on glycoproteins. Type I CDGs comprise defects in the assembly of the dolichol lipid-linked oligosaccharide (LLO) chain and its transfer to the nascent protein. These disorders can be identified by a characteristic abnormal isoelectric focusing profile of plasma transferrin (Leroy, 2006). CDG1D is a type I CDG that generally presents with severe neurologic involvement associated with dysmorphism and visual impairment. Liver involvement is sometimes present (summary by Marques-da-Silva et al., 2017). For a discussion of the classification of CDGs, see CDG1A (212065). (601110)

MalaCards based summary : Congenital Disorder of Glycosylation, Type Id, also known as congenital disorder of glycosylation type 1d, is related to congenital disorder of glycosylation, type in, and has symptoms including seizures, vomiting and diarrhea. An important gene associated with Congenital Disorder of Glycosylation, Type Id is ALG3 (ALG3, Alpha-1,3- Mannosyltransferase). Affiliated tissues include liver, eye and skin, and related phenotypes are seizures and muscular hypotonia

UniProtKB/Swiss-Prot : 75 Congenital disorder of glycosylation 1D: 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 Id

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

# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type in 10.3

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Id

Symptoms via clinical synopsis from OMIM:

57
Skeletal Hands:
clinodactyly
long fingers
adducted thumbs
contractures of the hands

Growth Other:
failure to thrive

Head And Neck Eyes:
optic atrophy
strabismus
epicanthus
iris coloboma
severe visual impairment
more
Head And Neck Nose:
bulbous nose
broad, flat bridge

Skeletal Feet:
clubfoot

Skeletal Limbs:
contractures

Skin Nails Hair Nails:
small, dysplastic nails

Neurologic Central Nervous System:
seizures
hyperreflexia
cerebellar atrophy
cerebral atrophy
hypsarrhythmia
more
Head And Neck Head:
microcephaly

Abdomen Gastrointestinal:
vomiting
diarrhea
food intolerance
duodenal villous atrophy

Head And Neck Mouth:
bifid uvula
high-arched palate

Head And Neck Ears:
large ears

Skeletal:
arthrogryposis multiplex

Laboratory Abnormalities:
abnormal isoelectric focusing of serum transferrin (type 1 pattern without increase of asialotransferrin)
hypoglycosylation of plasma glycoproteins
dolichyl-p-man:man(5)glcnac(2)-pp-dolichyl mannosyltransferase deficiency


Clinical features from OMIM:

601110

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

59 32 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
2 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
3 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
4 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
5 abnormality of vision 59 32 hallmark (90%) Very frequent (99-80%) HP:0000504
6 clinodactyly 32 HP:0030084
7 high palate 32 HP:0000218
8 hyperreflexia 32 HP:0001347
9 failure to thrive 32 HP:0001508
10 macrotia 32 HP:0000400
11 depressed nasal bridge 32 HP:0005280
12 wide nasal bridge 32 HP:0000431
13 optic atrophy 32 HP:0000648
14 hypertonia 32 HP:0001276
15 vomiting 32 HP:0002013
16 abnormality of the eye 59 Very frequent (99-80%)
17 strabismus 32 HP:0000486
18 epicanthus 32 HP:0000286
19 arthrogryposis multiplex congenita 32 HP:0002804
20 talipes equinovarus 32 HP:0001762
21 small nail 32 HP:0001792
22 bulbous nose 32 HP:0000414
23 diarrhea 32 HP:0002014
24 adducted thumb 32 HP:0001181
25 nail dysplasia 32 HP:0002164
26 iris coloboma 32 HP:0000612
27 cerebellar atrophy 32 HP:0001272
28 bifid uvula 32 HP:0000193
29 long fingers 32 HP:0100807
30 cerebral atrophy 32 HP:0002059
31 hypsarrhythmia 32 HP:0002521
32 villous atrophy 32 HP:0011473
33 muscular hypotonia of the trunk 32 HP:0008936
34 clinodactyly of the 5th toe 32 HP:0001864
35 joint contracture of the hand 32 HP:0009473
36 type i transferrin isoform profile 32 HP:0003642
37 food intolerance 32 HP:0012537
38 severe vision loss 32 HP:0001141
39 decreased light- and dark-adapted electroretinogram amplitude 32 HP:0000654

UMLS symptoms related to Congenital Disorder of Glycosylation, Type Id:


seizures, vomiting, diarrhea

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type Id

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

Genetic Tests for Congenital Disorder of Glycosylation, Type Id

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

# Genetic test Affiliating Genes
1 Congenital Disorder of Glycosylation Type 1d 29 ALG3

Anatomical Context for Congenital Disorder of Glycosylation, Type Id

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

41
Liver, Eye, Skin, Bone

Publications for Congenital Disorder of Glycosylation, Type Id

Articles related to Congenital Disorder of Glycosylation, Type Id:

# Title Authors Year
1
Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient. ( 18679822 )
2008
2
Congenital disorder of glycosylation type Id: clinical phenotype, molecular analysis, prenatal diagnosis, and glycosylation of fetal proteins. ( 16006436 )
2005
3
An activated 5' cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id). ( 15108280 )
2004

Variations for Congenital Disorder of Glycosylation, Type Id

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

75
# Symbol AA change Variation ID SNP ID
1 ALG3 p.Gly118Asp VAR_010306 rs28940588
2 ALG3 p.Arg171Gln VAR_037806 rs119103236

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

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 ALG3 NM_005787.5(ALG3): c.353G> A (p.Gly118Asp) single nucleotide variant Pathogenic rs28940588 GRCh37 Chromosome 3, 183963347: 183963347
2 ALG3 NM_005787.5(ALG3): c.353G> A (p.Gly118Asp) single nucleotide variant Pathogenic rs28940588 GRCh38 Chromosome 3, 184245559: 184245559
3 ALG3 NM_005787.5(ALG3): c.165C> T (p.Gly55=) single nucleotide variant Pathogenic rs387906273 GRCh37 Chromosome 3, 183966564: 183966564
4 ALG3 NM_005787.5(ALG3): c.165C> T (p.Gly55=) single nucleotide variant Pathogenic rs387906273 GRCh38 Chromosome 3, 184248776: 184248776
5 ALG3 NM_005787.5(ALG3): c.512G> A (p.Arg171Gln) single nucleotide variant Pathogenic rs119103236 GRCh37 Chromosome 3, 183963079: 183963079
6 ALG3 NM_005787.5(ALG3): c.512G> A (p.Arg171Gln) single nucleotide variant Pathogenic rs119103236 GRCh38 Chromosome 3, 184245291: 184245291
7 ALG3 NM_005787.5(ALG3): c.211T> C (p.Trp71Arg) single nucleotide variant Pathogenic rs119103237 GRCh37 Chromosome 3, 183963586: 183963586
8 ALG3 NM_005787.5(ALG3): c.211T> C (p.Trp71Arg) single nucleotide variant Pathogenic rs119103237 GRCh38 Chromosome 3, 184245798: 184245798
9 ALG3 NM_005787.5(ALG3): c.470T> A (p.Met157Lys) single nucleotide variant Pathogenic rs119103238 GRCh37 Chromosome 3, 183963121: 183963121
10 ALG3 NM_005787.5(ALG3): c.470T> A (p.Met157Lys) single nucleotide variant Pathogenic rs119103238 GRCh38 Chromosome 3, 184245333: 184245333
11 ALG3 NM_005787.5(ALG3): c.1271C> T (p.Pro424Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs79144888 GRCh37 Chromosome 3, 183960348: 183960348
12 ALG3 NM_005787.5(ALG3): c.1271C> T (p.Pro424Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs79144888 GRCh38 Chromosome 3, 184242560: 184242560
13 ALG3 NM_005787.5(ALG3): c.799C> A (p.Gln267Lys) single nucleotide variant Uncertain significance rs528154210 GRCh38 Chromosome 3, 184243924: 184243924
14 ALG3 NM_005787.5(ALG3): c.799C> A (p.Gln267Lys) single nucleotide variant Uncertain significance rs528154210 GRCh37 Chromosome 3, 183961712: 183961712
15 ALG3 NM_005787.5(ALG3): c.444+1G> T single nucleotide variant Pathogenic rs748878963 GRCh38 Chromosome 3, 184245467: 184245467
16 ALG3 NM_005787.5(ALG3): c.444+1G> T single nucleotide variant Pathogenic rs748878963 GRCh37 Chromosome 3, 183963255: 183963255
17 ALG3 NM_005787.5(ALG3): c.1024C> A (p.Leu342Ile) single nucleotide variant Uncertain significance rs568371168 GRCh37 Chromosome 3, 183960731: 183960731
18 ALG3 NM_005787.5(ALG3): c.1024C> A (p.Leu342Ile) single nucleotide variant Uncertain significance rs568371168 GRCh38 Chromosome 3, 184242943: 184242943

Expression for Congenital Disorder of Glycosylation, Type Id

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

Pathways for Congenital Disorder of Glycosylation, Type Id

GO Terms for Congenital Disorder of Glycosylation, Type Id

Sources for Congenital Disorder of Glycosylation, Type Id

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7 CNVD
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10 dbSNP
11 DGIdb
17 ExPASy
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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