CDG1D
MCID: CNG195
MIFTS: 34

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 58 13 74
Congenital Disorder of Glycosylation Type 1d 60 30 6
Cdg1d 58 60 76
Carbohydrate-Deficient Glycoprotein Syndrome, Type Iv, Formerly; Cdgs4, Formerly 58
Carbohydrate-Deficient Glycoprotein Syndrome, Type Iv, Formerly 58
Carbohydrate Deficient Glycoprotein Syndrome Type Id 60
Carbohydrate-Deficient Glycoprotein Syndrome Type Iv 76
Glycosylation, Congenital Disorder of, Type Id 41
Congenital Disorder of Glycosylation Type Id 60
Congenital Disorder of Glycosylation 1d 76
Mannosyltransferase 6 Deficiency 60
Cdgs, Type Iv, Formerly 58
Cdg Syndrome Type Id 60
Cdgs4, Formerly 58
Cdg Id; Cdgid 58
Alg3-Cdg 60
Cdg Id 58
Cdg-Id 60
Cdgid 58
Cdgs4 76

Characteristics:

Orphanet epidemiological data:

60
alg3-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
congenital disorder of glycosylation, type id:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Congenital Disorder of Glycosylation, Type Id

OMIM : 58 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 rapidly involuting congenital hemangioma, 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 : 76 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 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 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
2 rapidly involuting congenital hemangioma 10.2

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Id

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

60 33 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0001250
2 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
3 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
4 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
5 abnormality of vision 60 33 hallmark (90%) Very frequent (99-80%) HP:0000504
6 clinodactyly 33 HP:0030084
7 high palate 33 HP:0000218
8 hyperreflexia 33 HP:0001347
9 failure to thrive 33 HP:0001508
10 macrotia 33 HP:0000400
11 depressed nasal bridge 33 HP:0005280
12 wide nasal bridge 33 HP:0000431
13 optic atrophy 33 HP:0000648
14 hypertonia 33 HP:0001276
15 vomiting 33 HP:0002013
16 abnormality of the eye 60 Very frequent (99-80%)
17 strabismus 33 HP:0000486
18 epicanthus 33 HP:0000286
19 arthrogryposis multiplex congenita 33 HP:0002804
20 talipes equinovarus 33 HP:0001762
21 small nail 33 HP:0001792
22 hypsarrhythmia 33 HP:0002521
23 bulbous nose 33 HP:0000414
24 diarrhea 33 HP:0002014
25 adducted thumb 33 HP:0001181
26 nail dysplasia 33 HP:0002164
27 iris coloboma 33 HP:0000612
28 cerebellar atrophy 33 HP:0001272
29 bifid uvula 33 HP:0000193
30 long fingers 33 HP:0100807
31 cerebral atrophy 33 HP:0002059
32 muscular hypotonia of the trunk 33 HP:0008936
33 food intolerance 33 HP:0012537
34 villous atrophy 33 HP:0011473
35 severely reduced visual acuity 33 HP:0001141
36 clinodactyly of the 5th toe 33 HP:0001864
37 joint contracture of the hand 33 HP:0009473
38 type i transferrin isoform profile 33 HP:0003642
39 psychomotor retardation 33 HP:0025356
40 decreased light- and dark-adapted electroretinogram amplitude 33 HP:0000654

Symptoms via clinical synopsis from OMIM:

58
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
hypsarrhythmia
cerebellar atrophy
cerebral atrophy
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

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 30 ALG3

Anatomical Context for Congenital Disorder of Glycosylation, Type Id

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

42
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
CDG-Id in two siblings with partially different phenotypes. ( 17551933 )
2007
3
Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia. ( 15840742 )
2005
4
Congenital disorder of glycosylation type Id: clinical phenotype, molecular analysis, prenatal diagnosis, and glycosylation of fetal proteins. ( 16006436 )
2005
5
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
6
Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase. ( 10581255 )
1999
7
Carbohydrate-deficient glycoprotein syndrome--a fourth subtype. ( 8552211 )
1995

Variations for Congenital Disorder of Glycosylation, Type Id

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

76
# 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 28)
# 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.1024C> A (p.Leu342Ile) single nucleotide variant Uncertain significance rs568371168 GRCh37 Chromosome 3, 183960731: 183960731
16 ALG3 NM_005787.5(ALG3): c.1024C> A (p.Leu342Ile) single nucleotide variant Uncertain significance rs568371168 GRCh38 Chromosome 3, 184242943: 184242943
17 ALG3 NM_005787.5(ALG3): c.1263G> A (p.Trp421Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 184242568: 184242568
18 ALG3 NM_005787.5(ALG3): c.1263G> A (p.Trp421Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 183960356: 183960356
19 ALG3 NM_005787.5(ALG3): c.1037A> G (p.Asn346Ser) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 184242930: 184242930
20 ALG3 NM_005787.5(ALG3): c.1037A> G (p.Asn346Ser) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 183960718: 183960718
21 ALG3 NM_005787.5(ALG3): c.296+4A> G single nucleotide variant Likely pathogenic GRCh38 Chromosome 3, 184245709: 184245709
22 ALG3 NM_005787.5(ALG3): c.296+4A> G single nucleotide variant Likely pathogenic GRCh37 Chromosome 3, 183963497: 183963497
23 ALG3 NM_005787.5(ALG3): c.160_196del (p.Val54Thrfs) deletion Pathogenic GRCh38 Chromosome 3, 184248745: 184248781
24 ALG3 NM_005787.5(ALG3): c.160_196del (p.Val54Thrfs) deletion Pathogenic GRCh37 Chromosome 3, 183966533: 183966569
25 ALG3 NM_005787.5(ALG3): c.286G> A (p.Gly96Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 184245723: 184245723
26 ALG3 NM_005787.5(ALG3): c.286G> A (p.Gly96Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 183963511: 183963511
27 ALG3 NM_005787.5(ALG3): c.350G> C (p.Arg117Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 184245562: 184245562
28 ALG3 NM_005787.5(ALG3): c.350G> C (p.Arg117Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 183963350: 183963350

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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