MCID: CNG195
MIFTS: 33

Congenital Disorder of Glycosylation, Type Id

Categories: Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases, Liver diseases, Skin 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 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 congenital disorders of n-linked glycosylation and multiple pathway, and has symptoms including diarrhea, seizures and vomiting. An important gene associated with Congenital Disorder of Glycosylation, Type Id is ALG3 (ALG3, Alpha-1,3- Mannosyltransferase). Affiliated tissues include liver and eye, and related phenotypes are microcephaly and abnormality of vision

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

# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type in 10.2
2 congenital disorders of n-linked glycosylation and multiple pathway 10.0

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

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


diarrhea, seizures, vomiting

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

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 16)
# 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 GRCh37 Chromosome 3, 183963255: 183963255
16 ALG3 NM_005787.5(ALG3): c.444+1G> T single nucleotide variant Pathogenic rs748878963 GRCh38 Chromosome 3, 184245467: 184245467

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
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
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28 GO
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31 HMDB
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34 ICD10 via Orphanet
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44 MeSH
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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